A3243G

# **General Information**

| **Position** | **3243** | **Variant** | **m.3243A\>G** | **Locus** | **MT\-TL1** | **RNA** | **tRNA Leu (UUR)** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | Pathogenic | **Pathogenicity** | Cfrm \[P] |

"Pathogenicity" status is derived from published literature or predictions from bioinformatics tools. Researchers and clinicians are cautioned that additional data and/or analysis may still be necessary to confirm the pathological significance of these variants. For more information, please see [Mitofam Info](https://mitofam.com/doc/385/).

# **Pedigree Information**

The **m.3243A\>G** variant in MT\-TL1 has been reported in 662 pedigrees. To date, 1223 carriers have been reported. Homoplasmy was reported in 1/1223 carriers (0\.1%), and 970/1223 carriers (79\.3%) were affected. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in blood (30%) than in blood (5%). In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in blood (30%) than in blood (5%). Similar tissue\-specific differences were observed in 195 additional carriers. The main clinical manifestations among affected carriers included MELAS, short stature, diabetes, lactic acidosis, seizures, hearing loss, dementia, deafness, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3243 | m.3243A\>G | A3243G\-F1 | Japan | MELAS with cardiomyopathy and sensorineural hearing loss | 0 | 0 | 1991 | [1670860](https://pubmed.ncbi.nlm.nih.gov/1670860/) | / |
| 2 | 3243 | m.3243A\>G | A3243G\-F2 | Japan | MELAS with diabetes and hypertrophic cardiomyopathy | 0 | 0 | 1991 | [1670860](https://pubmed.ncbi.nlm.nih.gov/1670860/) | / |
| 3 | 3243 | m.3243A\>G | A3243G\-F3 | Japan | MELAS | 2 | 1 | 1990 | [2268345](https://pubmed.ncbi.nlm.nih.gov/2268345/) | Case 1 |
| 4 | 3243 | m.3243A\>G | A3243G\-F4 | Japan | MELAS | 0 | 0 | 1990 | [2268345](https://pubmed.ncbi.nlm.nih.gov/2268345/) | Case 2 |
| 5 | 3243 | m.3243A\>G | A3243G\-F5 | Japan | MELAS | 0 | 0 | 1990 | [2268345](https://pubmed.ncbi.nlm.nih.gov/2268345/) | Case 3 |
| 6 | 3243 | m.3243A\>G | A3243G\-F6 | Japan | MELAS | 0 | 0 | 1990 | [2268345](https://pubmed.ncbi.nlm.nih.gov/2268345/) | Case 4 |
| 7 | 3243 | m.3243A\>G | A3243G\-F7 | Japan | MELAS | 0 | 0 | 1990 | [2268345](https://pubmed.ncbi.nlm.nih.gov/2268345/) | Case 5 |
| 8 | 3243 | m.3243A\>G | A3243G\-F8 | Japan | MELAS | 0 | 0 | 1990 | [2268345](https://pubmed.ncbi.nlm.nih.gov/2268345/) | Case 6 |
| 9 | 3243 | m.3243A\>G | A3243G\-F9 | Japan | MELAS | 0 | 0 | 1991 | [1715668](https://pubmed.ncbi.nlm.nih.gov/1715668/) | Case 1\. |
| 10 | 3243 | m.3243A\>G | A3243G\-F10 | Japan | MELAS | 2 | 1 | 1991 | [1715668](https://pubmed.ncbi.nlm.nih.gov/1715668/) | Case 2 family. |
| 11 | 3243 | m.3243A\>G | A3243G\-F11 | Japan | MELAS | 0 | 0 | 1991 | [1715668](https://pubmed.ncbi.nlm.nih.gov/1715668/) | Case 3; unrelated singleton MELAS patient. |
| 12 | 3243 | m.3243A\>G | A3243G\-F12 | Japan | MELAS | 0 | 0 | 1991 | [1715668](https://pubmed.ncbi.nlm.nih.gov/1715668/) | Case 4; unrelated singleton MELAS patient. |
| 13 | 3243 | m.3243A\>G | A3243G\-F13 | Japan | MELAS | 0 | 0 | 1991 | [1715668](https://pubmed.ncbi.nlm.nih.gov/1715668/) | Case 5; unrelated singleton MELAS patient. |
| 14 | 3243 | m.3243A\>G | A3243G\-F14 | Japan | MELAS | 0 | 0 | 1991 | [1715668](https://pubmed.ncbi.nlm.nih.gov/1715668/) | Case 6; unrelated singleton MELAS patient. |
| 15 | 3243 | m.3243A\>G | A3243G\-F15 | Japan | MELAS | 0 | 0 | 1991 | [1715668](https://pubmed.ncbi.nlm.nih.gov/1715668/) | Case 7; unrelated singleton MELAS patient. |
| 16 | 3243 | m.3243A\>G | A3243G\-F16 | Japan | MELAS | 0 | 0 | 1991 | [1715668](https://pubmed.ncbi.nlm.nih.gov/1715668/) | Case 8; unrelated singleton MELAS patient. |
| 17 | 3243 | m.3243A\>G | A3243G\-F17 | Japan | MELAS | 0 | 0 | 1991 | [1899574](https://pubmed.ncbi.nlm.nih.gov/1899574/) | / |
| 18 | 3243 | m.3243A\>G | A3243G\-F18 | Japan | MELAS | 0 | 0 | 1991 | [1899574](https://pubmed.ncbi.nlm.nih.gov/1899574/) | / |
| 19 | 3243 | m.3243A\>G | A3243G\-F19 | United States | MELAS | 0 | 0 | 1991 | [1922812](https://pubmed.ncbi.nlm.nih.gov/1922812/) | / |
| 20 | 3243 | m.3243A\>G | [A3243G\-F20](https://mitofam.com/doc/993/) | Netherlands | Maternally transmitted type II diabetes mellitus and sensorineural hearing loss | 5 | 16 | 1992 | [1284550](https://pubmed.ncbi.nlm.nih.gov/1284550/) | Large Dutch pedigree; group blood heteroplasmy range applies to descendants from affected females where individual percentages are not reported. |
| 21 | 3243 | m.3243A\>G | A3243G\-F21 | United States | MELAS | 0 | 0 | 1992 | [1315123](https://pubmed.ncbi.nlm.nih.gov/1315123/) | MELAS1; Table 1 muscle 95%. |
| 22 | 3243 | m.3243A\>G | A3243G\-F22 | United States | MELAS | 0 | 0 | 1992 | [1315123](https://pubmed.ncbi.nlm.nih.gov/1315123/) | MELAS2; Table 1 muscle 91%. |
| 23 | 3243 | m.3243A\>G | A3243G\-F23 | United States | MELAS | 0 | 0 | 1992 | [1315123](https://pubmed.ncbi.nlm.nih.gov/1315123/) | MELAS3; Table 1 muscle 95%. |
| 24 | 3243 | m.3243A\>G | A3243G\-F24 | United States | atypical MELAS / PEO with lactic acidosis | 0 | 0 | 1992 | [1315123](https://pubmed.ncbi.nlm.nih.gov/1315123/) | MELAS4; Table 1 muscle 63%. |
| 25 | 3243 | m.3243A\>G | A3243G\-F25 | United States | MELAS | 0 | 0 | 1992 | [1315123](https://pubmed.ncbi.nlm.nih.gov/1315123/) | MELAS5; Table 1 muscle 91%. |
| 26 | 3243 | m.3243A\>G | [A3243G\-F26](https://mitofam.com/doc/994/) | United States | MELAS\-spectrum maternal dyad | 0 | 1 | 1992 | [1315123](https://pubmed.ncbi.nlm.nih.gov/1315123/) | MELAS6; mother of a typical MELAS patient. |
| 27 | 3243 | m.3243A\>G | A3243G\-F27 | United States | MELAS | 0 | 0 | 1992 | [1315123](https://pubmed.ncbi.nlm.nih.gov/1315123/) | MELAS7; Table 1 muscle 91%. |
| 28 | 3243 | m.3243A\>G | A3243G\-F28 | United States | atypical MELAS / PEO with seizures and developmental delay | 0 | 0 | 1992 | [1315123](https://pubmed.ncbi.nlm.nih.gov/1315123/) | MELAS8; Table 1 muscle 25%. |
| 29 | 3243 | m.3243A\>G | [A3243G\-F29](https://mitofam.com/doc/995/) | Japan | MELAS / mitochondrial encephalomyopathy | 1 | 0 | 1992 | [1370535](https://pubmed.ncbi.nlm.nih.gov/1370535/) | Fig.1 pedigree and mutant loads reviewed; spouse B0 records excluded. |
| 30 | 3243 | m.3243A\>G | [A3243G\-F30](https://mitofam.com/doc/996/) | Japan | MELAS / mitochondrial encephalomyopathy | 0 | 2 | 1992 | [1370535](https://pubmed.ncbi.nlm.nih.gov/1370535/) | Fig.1 pedigree and mutant loads reviewed; spouse B0 records excluded. |
| 31 | 3243 | m.3243A\>G | [A3243G\-F31](https://mitofam.com/doc/997/)| Japan | MELAS / mitochondrial encephalomyopathy | 0 | 2 | 1992 | [1370535](https://pubmed.ncbi.nlm.nih.gov/1370535/) | Fig.1 pedigree and mutant loads reviewed; spouse B0 records excluded. |
| 32 | 3243 | m.3243A\>G | [A3243G\-F32](https://mitofam.com/doc/998/) | Japan | Atypical mitochondrial encephalomyopathy | 2 | 0 | 1992 | [1370535](https://pubmed.ncbi.nlm.nih.gov/1370535/) | Fig.1 pedigree and mutant loads reviewed; spouse B0 records excluded. |
| 33 | 3243 | m.3243A\>G | [A3243G\-F33](https://mitofam.com/doc/999/) | Japan | Mitochondrial encephalomyopathy with MELAS\-spectrum features and cardiomyopathy | 1 | 0 | 1992 | [1405464](https://pubmed.ncbi.nlm.nih.gov/1405464/) | Paper family 1 |
| 34 | 3243 | m.3243A\>G | [A3243G\-F34](https://mitofam.com/doc/1000/) | Japan | Mitochondrial encephalomyopathy/MELAS\-spectrum disease in mother and two children | 0 | 2 | 1992 | [1405464](https://pubmed.ncbi.nlm.nih.gov/1405464/) | Paper family 2 |
| 35 | 3243 | m.3243A\>G |[ A3243G\-F35](https://mitofam.com/doc/1001/) | Japan | MELAS and maternal\-line mitochondrial encephalomyopathy features | 0 | 2 | 1992 | [1405464](https://pubmed.ncbi.nlm.nih.gov/1405464/) | Paper family 3 |
| 36 | 3243 | m.3243A\>G |[ A3243G\-F36 ](https://mitofam.com/doc/1002/)| Japan | Mitochondrial encephalomyopathy/MELAS\-spectrum disease | 1 | 0 | 1992 | [1405464](https://pubmed.ncbi.nlm.nih.gov/1405464/) | Paper family 4 |
| 37 | 3243 | m.3243A\>G | [A3243G\-F37](https://mitofam.com/doc/1003/) | Japan | Mitochondrial encephalomyopathy/MELAS\-spectrum disease with germline mosaicism possibility | 2 | 0 | 1992 | [1405464](https://pubmed.ncbi.nlm.nih.gov/1405464/) | Paper family 5 |
| 38 | 3243 | m.3243A\>G | [A3243G\-F38](https://mitofam.com/doc/1004/) | Japan | Mitochondrial encephalomyopathy/MELAS\-spectrum disease | 2 | 0 | 1992 | [1405464](https://pubmed.ncbi.nlm.nih.gov/1405464/) | Paper family 6 |
| 39 | 3243 | m.3243A\>G | [A3243G\-F39](https://mitofam.com/doc/1005/) | Japan | MELAS | 2 | 1 | 1992 | [1434521](https://pubmed.ncbi.nlm.nih.gov/1434521/) | Case 1 pedigree/gel: proband 58%, mother 1\.5%, asymptomatic sister 7\.1%; an additional affected/deceased maternal sibling is shown in the pedigree but has no molecular load. |
| 40 | 3243 | m.3243A\>G |[ A3243G\-F40](https://mitofam.com/doc/1006/) | Japan | MELAS | 2 | 0 | 1992 | [1434521](https://pubmed.ncbi.nlm.nih.gov/1434521/) | Case 2 pedigree/gel: proband 62%, mother 8\.5%, asymptomatic brother 28%. |
| 41 | 3243 | m.3243A\>G | [A3243G\-F41](https://mitofam.com/doc/1007/) | Japan | MELAS | 1 | 0 | 1992 | [1434521](https://pubmed.ncbi.nlm.nih.gov/1434521/) | Case 3 pedigree/gel: proband 50%, mother 7\.9%. |
| 42 | 3243 | m.3243A\>G | A3243G\-F42 | Japan | MELAS | 0 | 0 | 1992 | [1434521](https://pubmed.ncbi.nlm.nih.gov/1434521/) | Case 4 patient has 55% mutant mtDNA; family members are not reported with target\-positive molecular data. |
| 43 | 3243 | m.3243A\>G |[ A3243G\-F43](https://mitofam.com/doc/1008/) | Canada | MELAS syndrome with maternal family neurologic and hearing\-loss phenotype | 0 | 2 | 1992 | [1436526](https://pubmed.ncbi.nlm.nih.gov/1436526/) | / |
| 44 | 3243 | m.3243A\>G | A3243G\-F44 | Japan | Hypertrophic cardiomyopathy | 0 | 0 | 1992 | [1442494](https://pubmed.ncbi.nlm.nih.gov/1442494/) | Patient 2\. |
| 45 | 3243 | m.3243A\>G | A3243G\-F45 | Japan | Hypertrophic cardiomyopathy with diabetes mellitus | 0 | 1 | 1992 | [1442494](https://pubmed.ncbi.nlm.nih.gov/1442494/) | Patient 6\. |
| 46 | 3243 | m.3243A\>G | [A3243G\-F46](https://mitofam.com/doc/1009/) | Japan | MELAS | 2 | 0 | 1992 | [1539604](https://pubmed.ncbi.nlm.nih.gov/1539604/) | Figure 1 Pedigree A; qualitative ASO evidence only. |
| 47 | 3243 | m.3243A\>G | [A3243G\-F47](https://mitofam.com/doc/1010/) | Japan | MELAS | 1 | 0 | 1992 | [1539604](https://pubmed.ncbi.nlm.nih.gov/1539604/) | Figure 1 Pedigree B; qualitative ASO evidence only. |
| 48 | 3243 | m.3243A\>G | [A3243G\-F48](https://mitofam.com/doc/1011/) | Japan | MELAS | 5 | 0 | 1992 | [1539604](https://pubmed.ncbi.nlm.nih.gov/1539604/) | Figure 1 Pedigree C; includes Individual14 as eligible negative\-tested maternal\-line transmission record. |
| 49 | 3243 | m.3243A\>G | [A3243G\-F49](https://mitofam.com/doc/1012/) | USA | MELAS | 5 | 2 | 1992 | [1586140](https://pubmed.ncbi.nlm.nih.gov/1586140/) | Fig.2 pedigree A; table and figure rows reconciled before G/H counting. |
| 50 | 3243 | m.3243A\>G |[ A3243G\-F50 ](https://mitofam.com/doc/1013/)| USA | MELAS | 8 | 1 | 1992 | [1586140](https://pubmed.ncbi.nlm.nih.gov/1586140/) | Fig.2 pedigree B; includes target\-positive asymptomatic maternal\-line relatives and untested children of B\-II5\. |
| 51 | 3243 | m.3243A\>G | [A3243G\-F51](https://mitofam.com/doc/1014/) | USA | MELAS | 1 | 1 | 1992 | [1586140](https://pubmed.ncbi.nlm.nih.gov/1586140/) | Fig.2 pedigree C. |
| 52 | 3243 | m.3243A\>G |[ A3243G\-F52](https://mitofam.com/doc/1015/) | USA | MELAS | 4 | 0 | 1992 | [1586140](https://pubmed.ncbi.nlm.nih.gov/1586140/) | Fig.2 pedigree D; D\-I1 is a target\-positive mother with five children. |
| 53 | 3243 | m.3243A\>G | [A3243G\-F53](https://mitofam.com/doc/1016/) | USA | MELAS | 6 | 5 | 1992 | [1586140](https://pubmed.ncbi.nlm.nih.gov/1586140/) | Fig.2 pedigree E; includes positive, eligible negative\-tested, and untested children from target\-positive mothers. |
| 54 | 3243 | m.3243A\>G | [A3243G\-F54 ](https://mitofam.com/doc/1017/)| USA | MELAS | 0 | 1 | 1992 | [1586140](https://pubmed.ncbi.nlm.nih.gov/1586140/) | Non\-figure Table1/Table2 maternal\-relative link. |
| 55 | 3243 | m.3243A\>G |[ A3243G\-F55](https://mitofam.com/doc/1018/) | USA | MELAS | 1 | 0 | 1992 | [1586140](https://pubmed.ncbi.nlm.nih.gov/1586140/) | Non\-figure Table1/Table2 maternal\-relative link. |
| 56 | 3243 | m.3243A\>G | [A3243G\-F56 ](https://mitofam.com/doc/1019/)| USA | MELAS | 1 | 0 | 1992 | [1586140](https://pubmed.ncbi.nlm.nih.gov/1586140/) | Non\-figure Table1/Table2 maternal\-relative link. |
| 57 | 3243 | m.3243A\>G | A3243G\-F57 | USA | MELAS family; oligosymptomatic relative | 0 | 1 | 1992 | [1586140](https://pubmed.ncbi.nlm.nih.gov/1586140/) | Table2 patient33; affected relative had typical MELAS but no molecular tissue was available. |
| 58 | 3243 | m.3243A\>G | A3243G\-F58 | USA | MELAS family; oligosymptomatic relative | 0 | 1 | 1992 | [1586140](https://pubmed.ncbi.nlm.nih.gov/1586140/) | Table2 patient34; affected relative had typical MELAS but no molecular tissue was available. |
| 59 | 3243 | m.3243A\>G | A3243G\-F59 | USA | MELAS family; asymptomatic carrier mother | 1 | 0 | 1992 | [1586140](https://pubmed.ncbi.nlm.nih.gov/1586140/) | Table2 patient47 is a target\-positive mother of a clinically typical MELAS relative whose tissue was unavailable. |
| 60 | 3243 | m.3243A\>G | A3243G\-F60 | USA | MELAS | 0 | 0 | 1992 | [1586140](https://pubmed.ncbi.nlm.nih.gov/1586140/) | Table 1 patient 5; target\-positive MELAS singleton in this workbook context. |
| 61 | 3243 | m.3243A\>G | A3243G\-F61 | USA | MELAS | 0 | 0 | 1992 | [1586140](https://pubmed.ncbi.nlm.nih.gov/1586140/) | Table 1 patient 6; target\-positive MELAS singleton in this workbook context. |
| 62 | 3243 | m.3243A\>G | A3243G\-F62 | USA | MELAS | 0 | 0 | 1992 | [1586140](https://pubmed.ncbi.nlm.nih.gov/1586140/) | Table 1 patient 7; target\-positive MELAS singleton in this workbook context. |
| 63 | 3243 | m.3243A\>G | A3243G\-F63 | USA | MELAS | 0 | 0 | 1992 | [1586140](https://pubmed.ncbi.nlm.nih.gov/1586140/) | Table 1 patient 10; target\-positive MELAS singleton in this workbook context. |
| 64 | 3243 | m.3243A\>G | A3243G\-F64 | USA | MELAS | 0 | 0 | 1992 | [1586140](https://pubmed.ncbi.nlm.nih.gov/1586140/) | Table 1 patient 12; target\-positive MELAS singleton in this workbook context. |
| 65 | 3243 | m.3243A\>G | A3243G\-F65 | USA | MELAS | 0 | 0 | 1992 | [1586140](https://pubmed.ncbi.nlm.nih.gov/1586140/) | Table 1 patient 13; target\-positive MELAS singleton in this workbook context. |
| 66 | 3243 | m.3243A\>G | A3243G\-F66 | USA | MELAS | 0 | 0 | 1992 | [1586140](https://pubmed.ncbi.nlm.nih.gov/1586140/) | Table 1 patient 14; target\-positive MELAS singleton in this workbook context. |
| 67 | 3243 | m.3243A\>G | A3243G\-F67 | USA | MELAS | 0 | 0 | 1992 | [1586140](https://pubmed.ncbi.nlm.nih.gov/1586140/) | Table 1 patient 15; target\-positive MELAS singleton in this workbook context. |
| 68 | 3243 | m.3243A\>G | A3243G\-F68 | USA | MELAS | 0 | 0 | 1992 | [1586140](https://pubmed.ncbi.nlm.nih.gov/1586140/) | Table 1 patient 17; target\-positive MELAS singleton in this workbook context. |
| 69 | 3243 | m.3243A\>G | A3243G\-F69 | USA | MELAS | 0 | 0 | 1992 | [1586140](https://pubmed.ncbi.nlm.nih.gov/1586140/) | Table 1 patient 19; target\-positive MELAS singleton in this workbook context. |
| 70 | 3243 | m.3243A\>G | A3243G\-F70 | USA | MELAS | 0 | 0 | 1992 | [1586140](https://pubmed.ncbi.nlm.nih.gov/1586140/) | Table 1 patient 21; target\-positive MELAS singleton in this workbook context. |
| 71 | 3243 | m.3243A\>G | [A3243G\-F71](https://mitofam.com/doc/1020/) | USA | PEO, sensorineural deafness, weakness, exercise intolerance; atypical mitochondrial disease | 0 | 1 | 1992 | [1586140](https://pubmed.ncbi.nlm.nih.gov/1586140/) | Table4 patient1 and affected target\-positive mother. |
| 72 | 3243 | m.3243A\>G | A3243G\-F72 | USA | seizures, myoclonus, mental deterioration, hearing loss | 0 | 0 | 1992 | [1586140](https://pubmed.ncbi.nlm.nih.gov/1586140/) | Table4 patient2; no eligible molecularly mapped maternal relative. |
| 73 | 3243 | m.3243A\>G | A3243G\-F73 | USA | seizures, myoclonus, ptosis, short stature, dementia, exercise intolerance | 0 | 0 | 1992 | [1586140](https://pubmed.ncbi.nlm.nih.gov/1586140/) | Table4 patient3; no eligible molecularly mapped maternal relative. |
| 74 | 3243 | m.3243A\>G | A3243G\-F74 | USA | delayed milestones, short stature, recurrent vomiting, dementia, pigmentary retinopathy, weakness, cardiomyopathy | 0 | 0 | 1992 | [1586140](https://pubmed.ncbi.nlm.nih.gov/1586140/) | Table4 patient4; no eligible molecularly mapped maternal relative. |
| 75 | 3243 | m.3243A\>G | A3243G\-F75 | USA | developmental delay, short stature, slight mental retardation, PEO, seizures, mild ataxia, right bundle\-branch block | 0 | 0 | 1992 | [1586140](https://pubmed.ncbi.nlm.nih.gov/1586140/) | Table4 patient5; no eligible molecularly mapped maternal relative. |
| 76 | 3243 | m.3243A\>G | A3243G\-F76 | Japan | MELAS with hypophyseal dysfunction and multi\-organ autopsy tissue A3243G distribution | 0 | 0 | 1993 | [8138807](https://pubmed.ncbi.nlm.nih.gov/8138807/) | / |
| 77 | 3243 | m.3243A\>G | A3243G\-F77 | USA | MELAS/HSE\-like presentation | 0 | 0 | 1993 | [8255441](https://pubmed.ncbi.nlm.nih.gov/8255441/) | / |
| 78 | 3243 | m.3243A\>G | A3243G\-F78 | USA | MELAS/HSE\-like presentation | 0 | 0 | 1993 | [8255441](https://pubmed.ncbi.nlm.nih.gov/8255441/) | / |
| 79 | 3243 | m.3243A\>G | A3243G\-F79 | USA | MELAS/HSE\-like presentation | 0 | 0 | 1993 | [8255441](https://pubmed.ncbi.nlm.nih.gov/8255441/) | / |
| 80 | 3243 | m.3243A\>G | A3243G\-F80 | United Kingdom | MELAS with multi\-tissue A3243G quantification in paraffin sections | 0 | 0 | 1993 | [8326463](https://pubmed.ncbi.nlm.nih.gov/8326463/) | Case 1 |
| 81 | 3243 | m.3243A\>G | A3243G\-F81 | Taiwan | MERRF/MELAS overlap syndrome with A3243G | 0 | 0 | 1993 | [8356881](https://pubmed.ncbi.nlm.nih.gov/8356881/) | / |
| 82 | 3243 | m.3243A\>G | A3243G\-F82 | Taiwan | MELAS with chronic progressive external ophthalmoplegia and optic atrophy | 0 | 0 | 1993 | [8363452](https://pubmed.ncbi.nlm.nih.gov/8363452/) | / |
| 83 | 3243 | m.3243A\>G | A3243G\-F83 | USA | KSS/MELAS/MERRF overlap | 0 | 0 | 1993 | [8363469](https://pubmed.ncbi.nlm.nih.gov/8363469/) | / |
| 84 | 3243 | m.3243A\>G | A3243G\-F84 | USA | KSS/MELAS/MERRF overlap | 0 | 0 | 1993 | [8363469](https://pubmed.ncbi.nlm.nih.gov/8363469/) | / |
| 85 | 3243 | m.3243A\>G | A3243G\-F85 | USA | Atypical mitochondrial disease with A3243G | 0 | 0 | 1993 | [8392410](https://pubmed.ncbi.nlm.nih.gov/8392410/) | Table 1 lists one A3243G\-positive non\-MELAS patient; family history is not enough to create additional carrier rows without individual molecular data. |
| 86 | 3243 | m.3243A\>G | A3243G\-F86 | USA | Atypical mitochondrial disease with A3243G | 0 | 0 | 1993 | [8392410](https://pubmed.ncbi.nlm.nih.gov/8392410/) | Table 1 lists one A3243G\-positive non\-MELAS patient; family history is not enough to create additional carrier rows without individual molecular data. |
| 87 | 3243 | m.3243A\>G | A3243G\-F87 | USA | Atypical mitochondrial disease with A3243G | 0 | 0 | 1993 | [8392410](https://pubmed.ncbi.nlm.nih.gov/8392410/) | Table 1 lists one A3243G\-positive non\-MELAS patient; family history is not enough to create additional carrier rows without individual molecular data. |
| 88 | 3243 | m.3243A\>G | A3243G\-F88 | USA | Atypical mitochondrial disease with A3243G | 0 | 0 | 1993 | [8392410](https://pubmed.ncbi.nlm.nih.gov/8392410/) | Table 1 lists one A3243G\-positive non\-MELAS patient; family history is not enough to create additional carrier rows without individual molecular data. |
| 89 | 3243 | m.3243A\>G | A3243G\-F89 | USA | Atypical mitochondrial disease with A3243G | 0 | 0 | 1993 | [8392410](https://pubmed.ncbi.nlm.nih.gov/8392410/) | Table 1 lists one A3243G\-positive non\-MELAS patient; family history is not enough to create additional carrier rows without individual molecular data. |
| 90 | 3243 | m.3243A\>G | A3243G\-F90 | USA | Atypical mitochondrial disease with A3243G | 0 | 0 | 1993 | [8392410](https://pubmed.ncbi.nlm.nih.gov/8392410/) | Table 1 lists one A3243G\-positive non\-MELAS patient; family history is not enough to create additional carrier rows without individual molecular data. |
| 91 | 3243 | m.3243A\>G | A3243G\-F91 | USA | Atypical mitochondrial disease with A3243G | 0 | 0 | 1993 | [8392410](https://pubmed.ncbi.nlm.nih.gov/8392410/) | Table 1 lists one A3243G\-positive non\-MELAS patient; family history is not enough to create additional carrier rows without individual molecular data. |
| 92 | 3243 | m.3243A\>G | A3243G\-F92 | USA | Atypical mitochondrial disease with A3243G | 0 | 0 | 1993 | [8392410](https://pubmed.ncbi.nlm.nih.gov/8392410/) | Table 1 lists one A3243G\-positive non\-MELAS patient; family history is not enough to create additional carrier rows without individual molecular data. |
| 93 | 3243 | m.3243A\>G | A3243G\-F93 | USA | Atypical mitochondrial disease with A3243G | 0 | 0 | 1993 | [8392410](https://pubmed.ncbi.nlm.nih.gov/8392410/) | Table 1 lists one A3243G\-positive non\-MELAS patient; family history is not enough to create additional carrier rows without individual molecular data. |
| 94 | 3243 | m.3243A\>G | A3243G\-F94 | USA | Atypical mitochondrial disease with A3243G | 0 | 0 | 1993 | [8392410](https://pubmed.ncbi.nlm.nih.gov/8392410/) | Table 1 lists one A3243G\-positive non\-MELAS patient; family history is not enough to create additional carrier rows without individual molecular data. |
| 95 | 3243 | m.3243A\>G | A3243G\-F95 | USA | Atypical mitochondrial disease with A3243G | 0 | 0 | 1993 | [8392410](https://pubmed.ncbi.nlm.nih.gov/8392410/) | Table 1 lists one A3243G\-positive non\-MELAS patient; family history is not enough to create additional carrier rows without individual molecular data. |
| 96 | 3243 | m.3243A\>G | A3243G\-F96 | USA | Atypical mitochondrial disease with A3243G | 0 | 0 | 1993 | [8392410](https://pubmed.ncbi.nlm.nih.gov/8392410/) | Table 1 lists one A3243G\-positive non\-MELAS patient; family history is not enough to create additional carrier rows without individual molecular data. |
| 97 | 3243 | m.3243A\>G | [A3243G\-F97](https://mitofam.com/doc/1021/) | USA | Atypical mitochondrial disease with A3243G | 0 | 1 | 1993 | [8392410](https://pubmed.ncbi.nlm.nih.gov/8392410/) | Patients 13 and 14 are mother/son in the PDF text; both are A3243G\-positive, so they form one maternal family. |
| 98 | 3243 | m.3243A\>G | A3243G\-F98 | USA | Atypical mitochondrial disease with A3243G | 0 | 0 | 1993 | [8392410](https://pubmed.ncbi.nlm.nih.gov/8392410/) | Table 1 lists one A3243G\-positive non\-MELAS patient; family history is not enough to create additional carrier rows without individual molecular data. |
| 99 | 3243 | m.3243A\>G | A3243G\-F99 | USA | Atypical mitochondrial disease with A3243G | 0 | 0 | 1993 | [8392410](https://pubmed.ncbi.nlm.nih.gov/8392410/) | Table 1 lists one A3243G\-positive non\-MELAS patient; family history is not enough to create additional carrier rows without individual molecular data. |
| 100 | 3243 | m.3243A\>G | A3243G\-F100 | USA | Atypical mitochondrial disease with A3243G | 0 | 0 | 1993 | [8392410](https://pubmed.ncbi.nlm.nih.gov/8392410/) | Table 1 lists one A3243G\-positive non\-MELAS patient; family history is not enough to create additional carrier rows without individual molecular data. |
| 101 | 3243 | m.3243A\>G | A3243G\-F101 | USA | Atypical mitochondrial disease with A3243G | 0 | 0 | 1993 | [8392410](https://pubmed.ncbi.nlm.nih.gov/8392410/) | Table 1 lists one A3243G\-positive non\-MELAS patient; family history is not enough to create additional carrier rows without individual molecular data. |
| 102 | 3243 | m.3243A\>G | A3243G\-F102 | USA | Atypical mitochondrial disease with A3243G | 0 | 0 | 1993 | [8392410](https://pubmed.ncbi.nlm.nih.gov/8392410/) | Table 1 lists one A3243G\-positive non\-MELAS patient; family history is not enough to create additional carrier rows without individual molecular data. |
| 103 | 3243 | m.3243A\>G | A3243G\-F103 | USA | Atypical mitochondrial disease with A3243G | 0 | 0 | 1993 | [8392410](https://pubmed.ncbi.nlm.nih.gov/8392410/) | Table 1 lists one A3243G\-positive non\-MELAS patient; family history is not enough to create additional carrier rows without individual molecular data. |
| 104 | 3243 | m.3243A\>G | A3243G\-F104 | USA | Atypical mitochondrial disease with A3243G | 0 | 0 | 1993 | [8392410](https://pubmed.ncbi.nlm.nih.gov/8392410/) | Table 1 lists one A3243G\-positive non\-MELAS patient; family history is not enough to create additional carrier rows without individual molecular data. |
| 105 | 3243 | m.3243A\>G |[ A3243G\-F105 ](https://mitofam.com/doc/1022/)| Canada | MELAS\-like encephalomyopathy, sensorineural hearing loss, retinal degeneration, migraine, hypogonadism, and mild myopathy | 2 | 4 | 1993 | [8442706](https://pubmed.ncbi.nlm.nih.gov/8442706/) | Fig.2 is the controlling evidence for labels and mutation percentages. |
| 106 | 3243 | m.3243A\>G | [A3243G\-F106 ](https://mitofam.com/doc/1023/)| Germany | Diabetes mellitus, deafness, cardiomyopathy, and neurologic symptoms | 1 | 4 | 1993 | [8477849](https://pubmed.ncbi.nlm.nih.gov/8477849/) | Carrier rows use only molecularly supported subjects; II3 is G/H\-only. |
| 107 | 3243 | m.3243A\>G | A3243G\-F107 | Japan | MELAS with multi\-tissue A3243G distribution | 0 | 0 | 1993 | [8487499](https://pubmed.ncbi.nlm.nih.gov/8487499/) | Singleton autopsy tissue\-distribution case; no countable relatives. |
| 108 | 3243 | m.3243A\>G | [A3243G\-F108](https://mitofam.com/doc/1024/) | Finland | MELAS; maternally transmitted diabetes/lactacidemia | 4 | 5 | 1993 | [8518790](https://pubmed.ncbi.nlm.nih.gov/8518790/) | Figure 2 pedigree/quantification used; I/1, II/1 and III/2 are G/H\-only clinical relatives without molecular carrier rows. |
| 109 | 3243 | m.3243A\>G | [A3243G\-F109](https://mitofam.com/doc/1025/) | France | Maternally inherited diabetes and deafness | 0 | 5 | 1994 | [7910800](https://pubmed.ncbi.nlm.nih.gov/7910800/) | F254 from the French CEPH NIDDM pedigrees; Fig.3 confirms leukocyte A3243G in II\-3 18%, III\-2 36%, and III\-5 18%. |
| 110 | 3243 | m.3243A\>G | [A3243G\-F110 ](https://mitofam.com/doc/1026/)| Netherlands | Maternally inherited diabetes and deafness | 0 | 2 | 1994 | [7910800](https://pubmed.ncbi.nlm.nih.gov/7910800/) | Pedigree S was identified in the Leiden clinic group; text states mutation detection in II\-2, III\-2, and III\-4\. |
| 111 | 3243 | m.3243A\>G | A3243G\-F111 | United States | PEO/MELAS spectrum; PEO patient W | 0 | 0 | 1994 | [7912129](https://pubmed.ncbi.nlm.nih.gov/7912129/) | / |
| 112 | 3243 | m.3243A\>G | A3243G\-F112 | United States | PEO/MELAS spectrum; PEO patient H | 0 | 0 | 1994 | [7912129](https://pubmed.ncbi.nlm.nih.gov/7912129/) | / |
| 113 | 3243 | m.3243A\>G | A3243G\-F113 | United States | PEO/MELAS spectrum; MELAS patient K | 0 | 0 | 1994 | [7912129](https://pubmed.ncbi.nlm.nih.gov/7912129/) | / |
| 114 | 3243 | m.3243A\>G |  [A3243G\-F114 ](https://mitofam.com/doc/1027/ ) | USA | MELAS; atypical multisystem symptoms | 0 | 8 | 1994 | [7965431](https://pubmed.ncbi.nlm.nih.gov/7965431/) | Extended pedigree; all molecularly documented table carriers are entered individually. |
| 115 | 3243 | m.3243A\>G | A3243G\-F115 | Australia | MELAS with migraine, ataxia, stroke\-like episodes and deafness | 0 | 0 | 1994 | [8042948](https://pubmed.ncbi.nlm.nih.gov/8042948/) | Singleton A3243G\-positive case in this supplied PDF; no eligible maternal relatives reported. |
| 116 | 3243 | m.3243A\>G | A3243G\-F116 | Australia | CPEO/MELAS overlap with ophthalmoplegia, ptosis, heart block and lactic acidosis | 0 | 0 | 1994 | [8042948](https://pubmed.ncbi.nlm.nih.gov/8042948/) | Patient 19 has an affected mother by clinical history, but the mother is deceased and has no A3243G molecular result in this PDF. |
| 117 | 3243 | m.3243A\>G |[ A3243G\-F117](https://mitofam.com/doc/1028/) | Australia | Mild isolated deafness in fourth\-generation members of a pedigree | 0 | 0 | 1994 | [8042948](https://pubmed.ncbi.nlm.nih.gov/8042948/) | Patients 20 and 21 are reported as fourth\-generation members of a pedigree, but the supplied PDF does not show the pedigree or define their maternal relationship. |
| 118 | 3243 | m.3243A\>G | [A3243G\-F118](https://mitofam.com/doc/1029/) | United Kingdom | NIDDM with sensorineural deafness and A3243G | 1 | 5 | 1994 | [8063037](https://pubmed.ncbi.nlm.nih.gov/8063037/) | Pedigree\-first family row; do not use aggregate carrier row. |
| 119 | 3243 | m.3243A\>G | A3243G\-F119 | Spain | Mitochondrial myopathy with leukoencephalopathy and epileptic seizures | 0 | 0 | 1994 | [8122891](https://pubmed.ncbi.nlm.nih.gov/8122891/) | Single target\-positive female twin; inheritance unresolved/de novo versus undetected maternal mosaicism. |
| 120 | 3243 | m.3243A\>G | A3243G\-F120 | Japan | Mitochondrial myopathy without CNS symptoms | 0 | 0 | 1994 | [8122892](https://pubmed.ncbi.nlm.nih.gov/8122892/) | Original singleton case; healthy relatives are clinical\-only and excluded from G/H. |
| 121 | 3243 | m.3243A\>G |[ A3243G\-F121 ](https://mitofam.com/doc/1030/)| United Kingdom | MELAS, deafness, cardiomyopathy/lactic acidosis, short stature/myopathy; stillborn fetus without mitochondrial\-disease pathology | 2 | 3 | 1994 | [8151636](https://pubmed.ncbi.nlm.nih.gov/8151636/) | Fig.1 |
| 122 | 3243 | m.3243A\>G | [A3243G\-F122 ](https://mitofam.com/doc/1031/)| Taiwan | MELAS syndrome in a Chinese family | 2 | 4 | 1994 | [8201329](https://pubmed.ncbi.nlm.nih.gov/8201329/) | Table 1; figure |
| 123 | 3243 | m.3243A\>G |[ A3243G\-F123 ](https://mitofam.com/doc/1032/)| France | Maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure and sensorineural deafness | 1 | 13 | 1995 | [7473662](https://pubmed.ncbi.nlm.nih.gov/7473662/) | Four\-generation French pedigree; individual molecular rows come from Fig. 2 and text. |
| 124 | 3243 | m.3243A\>G | A3243G\-F124 | United Kingdom | A3243G mitochondrial disease | 0 | 0 | 1995 | [7599199](https://pubmed.ncbi.nlm.nih.gov/7599199/) | Original 14\-patient genotype\-phenotype study; no countable maternal relatives in this supplied PDF for this family. |
| 125 | 3243 | m.3243A\>G | A3243G\-F125 | United Kingdom | A3243G mitochondrial disease | 0 | 0 | 1995 | [7599199](https://pubmed.ncbi.nlm.nih.gov/7599199/) | Original 14\-patient genotype\-phenotype study; no countable maternal relatives in this supplied PDF for this family. |
| 126 | 3243 | m.3243A\>G | A3243G\-F126 | United Kingdom | A3243G mitochondrial disease | 0 | 0 | 1995 | [7599199](https://pubmed.ncbi.nlm.nih.gov/7599199/) | Original 14\-patient genotype\-phenotype study; no countable maternal relatives in this supplied PDF for this family. |
| 127 | 3243 | m.3243A\>G | A3243G\-F127 | United Kingdom | A3243G mitochondrial disease | 0 | 0 | 1995 | [7599199](https://pubmed.ncbi.nlm.nih.gov/7599199/) | Original 14\-patient genotype\-phenotype study; no countable maternal relatives in this supplied PDF for this family. |
| 128 | 3243 | m.3243A\>G | A3243G\-F128 | United Kingdom | A3243G mitochondrial disease | 0 | 0 | 1995 | [7599199](https://pubmed.ncbi.nlm.nih.gov/7599199/) | Original 14\-patient genotype\-phenotype study; no countable maternal relatives in this supplied PDF for this family. |
| 129 | 3243 | m.3243A\>G | A3243G\-F129 | United Kingdom | A3243G mitochondrial disease | 0 | 0 | 1995 | [7599199](https://pubmed.ncbi.nlm.nih.gov/7599199/) | Original 14\-patient genotype\-phenotype study; no countable maternal relatives in this supplied PDF for this family. |
| 130 | 3243 | m.3243A\>G | A3243G\-F130 | Norway | A3243G mitochondrial disease | 0 | 0 | 1995 | [7599199](https://pubmed.ncbi.nlm.nih.gov/7599199/) | Original 14\-patient genotype\-phenotype study; no countable maternal relatives in this supplied PDF for this family. |
| 131 | 3243 | m.3243A\>G | A3243G\-F131 | United Kingdom | A3243G mitochondrial disease | 0 | 0 | 1995 | [7599199](https://pubmed.ncbi.nlm.nih.gov/7599199/) | Original 14\-patient genotype\-phenotype study; no countable maternal relatives in this supplied PDF for this family. |
| 132 | 3243 | m.3243A\>G | A3243G\-F132 | United Kingdom | A3243G mitochondrial disease | 0 | 0 | 1995 | [7599199](https://pubmed.ncbi.nlm.nih.gov/7599199/) | Original 14\-patient genotype\-phenotype study; no countable maternal relatives in this supplied PDF for this family. |
| 133 | 3243 | m.3243A\>G | A3243G\-F133 | United Kingdom | A3243G mitochondrial disease | 0 | 0 | 1995 | [7599199](https://pubmed.ncbi.nlm.nih.gov/7599199/) | Original 14\-patient genotype\-phenotype study; no countable maternal relatives in this supplied PDF for this family. |
| 134 | 3243 | m.3243A\>G | [A3243G\-F134](https://mitofam.com/doc/1033/) | United Kingdom | A3243G mitochondrial disease | 1 | 0 | 1995 | [7599199](https://pubmed.ncbi.nlm.nih.gov/7599199/) | Case 119 plus asymptomatic mother with small percentage mutant mtDNA in biopsied muscle. |
| 135 | 3243 | m.3243A\>G |[ A3243G\-F135](https://mitofam.com/doc/1034/) | United Kingdom | A3243G mitochondrial disease | 0 | 2 | 1995 | [7599199](https://pubmed.ncbi.nlm.nih.gov/7599199/) | Cases 21a, 21b, and 21c belong to the same family/pedigree; 21c is the daughter of 21a. |
| 136 | 3243 | m.3243A\>G | A3243G\-F136 | United Kingdom | mitochondrial encephalomyopathy; MELAS/CPEO/MERRF/MIDD spectrum | 0 | 0 | 1995 | [7600089](https://pubmed.ncbi.nlm.nih.gov/7600089/) | Family label from Table 1/Fig. 1; exact nationality per family not always reported. |
| 137 | 3243 | m.3243A\>G | [A3243G\-F137](https://mitofam.com/doc/1035/) | United Kingdom | mitochondrial encephalomyopathy; MELAS/CPEO/MERRF/MIDD spectrum | 1 | 2 | 1995 | [7600089](https://pubmed.ncbi.nlm.nih.gov/7600089/) | Family label from Table 1/Fig. 1; exact nationality per family not always reported. |
| 138 | 3243 | m.3243A\>G | A3243G\-F138 | United Kingdom | mitochondrial encephalomyopathy; MELAS/CPEO/MERRF/MIDD spectrum | 0 | 0 | 1995 | [7600089](https://pubmed.ncbi.nlm.nih.gov/7600089/) | Family label from Table 1/Fig. 1; exact nationality per family not always reported. |
| 139 | 3243 | m.3243A\>G | A3243G\-F139 | United Kingdom | mitochondrial encephalomyopathy; MELAS/CPEO/MERRF/MIDD spectrum | 0 | 0 | 1995 | [7600089](https://pubmed.ncbi.nlm.nih.gov/7600089/) | Family label from Table 1/Fig. 1; exact nationality per family not always reported. |
| 140 | 3243 | m.3243A\>G | A3243G\-F140 | United Kingdom | mitochondrial encephalomyopathy; MELAS/CPEO/MERRF/MIDD spectrum | 0 | 0 | 1995 | [7600089](https://pubmed.ncbi.nlm.nih.gov/7600089/) | Family label from Table 1/Fig. 1; exact nationality per family not always reported. |
| 141 | 3243 | m.3243A\>G | [A3243G\-F141](https://mitofam.com/doc/1036/) | United Kingdom | mitochondrial encephalomyopathy; MELAS/CPEO/MERRF/MIDD spectrum | 2 | 1 | 1995 | [7600089](https://pubmed.ncbi.nlm.nih.gov/7600089/) | Family label from Table 1/Fig. 1; exact nationality per family not always reported. |
| 142 | 3243 | m.3243A\>G | A3243G\-F142 | United Kingdom | mitochondrial encephalomyopathy; MELAS/CPEO/MERRF/MIDD spectrum | 0 | 0 | 1995 | [7600089](https://pubmed.ncbi.nlm.nih.gov/7600089/) | Family label from Table 1/Fig. 1; exact nationality per family not always reported. |
| 143 | 3243 | m.3243A\>G | A3243G\-F143 | United Kingdom | mitochondrial encephalomyopathy; MELAS/CPEO/MERRF/MIDD spectrum | 0 | 0 | 1995 | [7600089](https://pubmed.ncbi.nlm.nih.gov/7600089/) | Family label from Table 1/Fig. 1; exact nationality per family not always reported. |
| 144 | 3243 | m.3243A\>G | A3243G\-F144 | Norway | mitochondrial encephalomyopathy; MELAS/CPEO/MERRF/MIDD spectrum | 0 | 0 | 1995 | [7600089](https://pubmed.ncbi.nlm.nih.gov/7600089/) | Family label from Table 1/Fig. 1; exact nationality per family not always reported. |
| 145 | 3243 | m.3243A\>G | A3243G\-F145 | United Kingdom | mitochondrial encephalomyopathy; MELAS/CPEO/MERRF/MIDD spectrum | 0 | 0 | 1995 | [7600089](https://pubmed.ncbi.nlm.nih.gov/7600089/) | Family label from Table 1/Fig. 1; exact nationality per family not always reported. |
| 146 | 3243 | m.3243A\>G | A3243G\-F146 | United Kingdom | mitochondrial encephalomyopathy; MELAS/CPEO/MERRF/MIDD spectrum | 0 | 0 | 1995 | [7600089](https://pubmed.ncbi.nlm.nih.gov/7600089/) | Family label from Table 1/Fig. 1; exact nationality per family not always reported. |
| 147 | 3243 | m.3243A\>G | [A3243G\-F147](https://mitofam.com/doc/1037/) | United Kingdom | mitochondrial encephalomyopathy; MELAS/CPEO/MERRF/MIDD spectrum | 1 | 0 | 1995 | [7600089](https://pubmed.ncbi.nlm.nih.gov/7600089/) | Family label from Table 1/Fig. 1; exact nationality per family not always reported. |
| 148 | 3243 | m.3243A\>G | [A3243G\-F148 ](https://mitofam.com/doc/1038)| United Kingdom | mitochondrial encephalomyopathy; MELAS/CPEO/MERRF/MIDD spectrum | 2 | 2 | 1995 | [7600089](https://pubmed.ncbi.nlm.nih.gov/7600089/) | Family label from Table 1/Fig. 1; exact nationality per family not always reported. |
| 149 | 3243 | m.3243A\>G | [A3243G\-F149](https://mitofam.com/doc/1039/) | United Kingdom | mitochondrial encephalomyopathy; MELAS/CPEO/MERRF/MIDD spectrum | 1 | 0 | 1995 | [7600089](https://pubmed.ncbi.nlm.nih.gov/7600089/) | Family label from Table 1/Fig. 1; exact nationality per family not always reported. |
| 150 | 3243 | m.3243A\>G | [A3243G\-F150](https://mitofam.com/doc/1040/) | United Kingdom | mitochondrial encephalomyopathy; MELAS/CPEO/MERRF/MIDD spectrum | 1 | 0 | 1995 | [7600089](https://pubmed.ncbi.nlm.nih.gov/7600089/) | Family label from Table 1/Fig. 1; exact nationality per family not always reported. |
| 151 | 3243 | m.3243A\>G | [A3243G\-F151](https://mitofam.com/doc/1041/) | United Kingdom | mitochondrial encephalomyopathy; MELAS/CPEO/MERRF/MIDD spectrum | 4 | 0 | 1995 | [7600089](https://pubmed.ncbi.nlm.nih.gov/7600089/) | Family label from Table 1/Fig. 1; exact nationality per family not always reported. |
| 152 | 3243 | m.3243A\>G | [A3243G\-F152 ](https://mitofam.com/doc/1042/)| United Kingdom | mitochondrial encephalomyopathy; MELAS/CPEO/MERRF/MIDD spectrum | 0 | 2 | 1995 | [7600089](https://pubmed.ncbi.nlm.nih.gov/7600089/) | Family label from Table 1/Fig. 1; exact nationality per family not always reported. |
| 153 | 3243 | m.3243A\>G | [A3243G\-F153](https://mitofam.com/doc/1043/) | United Kingdom | mitochondrial encephalomyopathy; MELAS/CPEO/MERRF/MIDD spectrum | 7 | 4 | 1995 | [7600089](https://pubmed.ncbi.nlm.nih.gov/7600089/) | Family label from Table 1/Fig. 1; exact nationality per family not always reported. |
| 154 | 3243 | m.3243A\>G | [A3243G\-F154](https://mitofam.com/doc/1044/) | United Kingdom | mitochondrial encephalomyopathy; MELAS/CPEO/MERRF/MIDD spectrum | 0 | 1 | 1995 | [7600089](https://pubmed.ncbi.nlm.nih.gov/7600089/) | Family label from Table 1/Fig. 1; exact nationality per family not always reported. |
| 155 | 3243 | m.3243A\>G |[ A3243G\-F155 ](https://mitofam.com/doc/1045/)| United Kingdom | mitochondrial encephalomyopathy; MELAS/CPEO/MERRF/MIDD spectrum | 1 | 0 | 1995 | [7600089](https://pubmed.ncbi.nlm.nih.gov/7600089/) | Family label from Table 1/Fig. 1; exact nationality per family not always reported. |
| 156 | 3243 | m.3243A\>G | [A3243G\-F156](https://mitofam.com/doc/1046/) | United Kingdom | mitochondrial encephalomyopathy; MELAS/CPEO/MERRF/MIDD spectrum | 1 | 0 | 1995 | [7600089](https://pubmed.ncbi.nlm.nih.gov/7600089/) | Family label from Table 1/Fig. 1; exact nationality per family not always reported. |
| 157 | 3243 | m.3243A\>G | [A3243G\-F157](https://mitofam.com/doc/1047/) | United Kingdom | mitochondrial encephalomyopathy; MELAS/CPEO/MERRF/MIDD spectrum | 0 | 2 | 1995 | [7600089](https://pubmed.ncbi.nlm.nih.gov/7600089/) | Family label from Table 1/Fig. 1; exact nationality per family not always reported. |
| 158 | 3243 | m.3243A\>G | [A3243G\-F158](https://mitofam.com/doc/1048/) | Japan | Maternally inherited diabetes and deafness | 1 | 0 | 1995 | [7603515](https://pubmed.ncbi.nlm.nih.gov/7603515/) | Table 3 family; blood/peripheral\-white\-cell positive, individual load not reported. |
| 159 | 3243 | m.3243A\>G | [A3243G\-F159](https://mitofam.com/doc/1049/) | Japan | Maternally inherited diabetes and deafness | 1 | 0 | 1995 | [7603515](https://pubmed.ncbi.nlm.nih.gov/7603515/) | Table 3 family; blood/peripheral\-white\-cell positive, individual load not reported. |
| 160 | 3243 | m.3243A\>G | A3243G\-F160 | Japan | Maternally inherited diabetes and deafness | 0 | 0 | 1995 | [7603515](https://pubmed.ncbi.nlm.nih.gov/7603515/) | Original label: Patient 3\. |
| 161 | 3243 | m.3243A\>G | [A3243G\-F161 ](https://mitofam.com/doc/1050/)| Japan | Maternally inherited diabetes and deafness | 0 | 1 | 1995 | [7603515](https://pubmed.ncbi.nlm.nih.gov/7603515/) | Table 3 family; both mother and son affected. |
| 162 | 3243 | m.3243A\>G | A3243G\-F162 | Japan | Maternally inherited diabetes and deafness | 0 | 0 | 1995 | [7603515](https://pubmed.ncbi.nlm.nih.gov/7603515/) | Original label: Patient 5\. |
| 163 | 3243 | m.3243A\>G | [A3243G\-F163 ](https://mitofam.com/doc/1051/)| France | maternally inherited diabetes and deafness with macular pattern dystrophy | 0 | 2 | 1995 | [7639309](https://pubmed.ncbi.nlm.nih.gov/7639309/) | Case 1\. |
| 164 | 3243 | m.3243A\>G | A3243G\-F164 | France | maternally inherited diabetes and deafness with macular pattern dystrophy | 0 | 0 | 1995 | [7639309](https://pubmed.ncbi.nlm.nih.gov/7639309/) | Case 2\. |
| 165 | 3243 | m.3243A\>G | [A3243G\-F165](https://mitofam.com/doc/1052/) | Japan | Impaired glucose tolerance with A3243G; child with MELAS | 0 | 1 | 1995 | [7714102](https://pubmed.ncbi.nlm.nih.gov/7714102/) | Patient 1 family; son is included despite no molecular testing because mother is confirmed A3243G\-positive and child phenotype is explicitly reported. |
| 166 | 3243 | m.3243A\>G | A3243G\-F166 | Japan | Diabetes with A3243G | 0 | 0 | 1995 | [7714102](https://pubmed.ncbi.nlm.nih.gov/7714102/) | Patient 2 singleton row despite aggregate maternal diabetes history. |
| 167 | 3243 | m.3243A\>G | A3243G\-F167 | Japan | Non\-insulin\-dependent diabetes mellitus with A3243G | 0 | 0 | 1995 | [7714102](https://pubmed.ncbi.nlm.nih.gov/7714102/) | Patient 3 singleton row. |
| 168 | 3243 | m.3243A\>G | [A3243G\-F168](https://mitofam.com/doc/1053/) | Spain | MELAS, IDDM, hearing loss, migraine, exercise intolerance | 0 | 2 | 1995 | [7732778](https://pubmed.ncbi.nlm.nih.gov/7732778/) | Pedigree A; II\-1 is included under the positive\-mother plus explicit phenotype rule. |
| 169 | 3243 | m.3243A\>G |[ A3243G\-F169](https://mitofam.com/doc/1054/) | Spain | Exercise intolerance, lactic acidosis, ragged\-red fibers, asymptomatic carriers | 2 | 2 | 1995 | [7732778](https://pubmed.ncbi.nlm.nih.gov/7732778/) | Pedigree B; blood and muscle proportions are shown in Figure/Table 1\. |
| 170 | 3243 | m.3243A\>G | A3243G\-F170 | Japan | Bilateral sensorineural hearing loss with diabetes mellitus | 1 | 0 | 1996 | [8544626](https://pubmed.ncbi.nlm.nih.gov/8544626/) | Case 1 son is G/H\-only, not a carrier row, because the paper reports no child molecular test and no maternal mutation\-load percentage. |
| 171 | 3243 | m.3243A\>G | A3243G\-F171 | Japan | Bilateral sensorineural hearing loss with diabetes mellitus | 0 | 0 | 1996 | [8544626](https://pubmed.ncbi.nlm.nih.gov/8544626/) | Maternal inheritance is clinically suggested, but no tested maternal relative is reported for carrier/G\-H expansion. |
| 172 | 3243 | m.3243A\>G | [A3243G\-F172 ](https://mitofam.com/doc/1055/)| Japan | Bilateral sensorineural hearing loss, diabetes mellitus, stroke\-like episodes/dementia | 1 | 0 | 1996 | [8544626](https://pubmed.ncbi.nlm.nih.gov/8544626/) | Case 3 and her son are the only molecularly supported carrier rows in this pedigree. |
| 173 | 3243 | m.3243A\>G | A3243G\-F173 | Spain | Sporadic MERRF/MELAS overlap syndrome with A3243G | 0 | 0 | 1996 | [8559168](https://pubmed.ncbi.nlm.nih.gov/8559168/) | Sporadic/de novo case; the authors discuss possible low\-level maternal germline transmission, but no detectable maternal\-line carrier is reported. |
| 174 | 3243 | m.3243A\>G | [A3243G\-F174 ](https://mitofam.com/doc/1056/)| Italy | MERRF syndrome caused by A3243G | 0 | 3 | 1996 | [8676159](https://pubmed.ncbi.nlm.nih.gov/8676159/) | Figure 1 pedigree. |
| 175 | 3243 | m.3243A\>G |[ A3243G\-F175](https://mitofam.com/doc/1057/) | Germany | VACTERL association; MELAS/cardiomyopathy/CPEO/deafness/asymptomatic A3243G relatives | 4 | 3 | 1996 | [8723071](https://pubmed.ncbi.nlm.nih.gov/8723071/) | Fig. 1 pedigree; Table I. |
| 176 | 3243 | m.3243A\>G | A3243G\-F176 | Germany | MELAS/cardiomyopathy/diabetes with A3243G plus ND1 T3398C | 0 | 1 | 1996 | [8723687](https://pubmed.ncbi.nlm.nih.gov/8723687/) | Family 1; ND1 T3398C also present. |
| 177 | 3243 | m.3243A\>G | A3243G\-F177 | Germany | MELAS with A3243G | 0 | 0 | 1996 | [8723687](https://pubmed.ncbi.nlm.nih.gov/8723687/) | Family 2\. |
| 178 | 3243 | m.3243A\>G | A3243G\-F178 | Germany | MELAS with A3243G | 0 | 0 | 1996 | [8723687](https://pubmed.ncbi.nlm.nih.gov/8723687/) | Family 3\. |
| 179 | 3243 | m.3243A\>G | A3243G\-F179 | United States | MELAS | 0 | 0 | 1996 | [8773598](https://pubmed.ncbi.nlm.nih.gov/8773598/) | P1 autopsy MELAS\-3243 case; family history positive but no relative is molecularly mapped. |
| 180 | 3243 | m.3243A\>G | A3243G\-F180 | United States | MELAS | 0 | 0 | 1996 | [8773598](https://pubmed.ncbi.nlm.nih.gov/8773598/) | P2 autopsy MELAS\-3243 case; family history positive but no relative is molecularly mapped. |
| 181 | 3243 | m.3243A\>G | A3243G\-F181 | United States | MELAS | 0 | 0 | 1996 | [8773598](https://pubmed.ncbi.nlm.nih.gov/8773598/) | P3 autopsy MELAS\-3243 case; family history positive but no relative is molecularly mapped. |
| 182 | 3243 | m.3243A\>G | A3243G\-F182 | United States | MELAS | 0 | 0 | 1996 | [8773598](https://pubmed.ncbi.nlm.nih.gov/8773598/) | P4 autopsy MELAS\-3243 case; no pedigree or mapped maternal relatives. |
| 183 | 3243 | m.3243A\>G | A3243G\-F183 | United States | MELAS | 0 | 0 | 1996 | [8773598](https://pubmed.ncbi.nlm.nih.gov/8773598/) | P5 biopsied\-muscle MELAS\-3243 case; no pedigree or mapped maternal relatives. |
| 184 | 3243 | m.3243A\>G | A3243G\-F184 | United States | MELAS | 0 | 0 | 1996 | [8773598](https://pubmed.ncbi.nlm.nih.gov/8773598/) | P6 biopsied\-muscle MELAS\-3243 case; family history positive but no relative is molecularly mapped. |
| 185 | 3243 | m.3243A\>G | A3243G\-F185 | United States | MELAS | 0 | 0 | 1996 | [8773598](https://pubmed.ncbi.nlm.nih.gov/8773598/) | P7 biopsied\-muscle MELAS\-3243 case; no pedigree or mapped maternal relatives. |
| 186 | 3243 | m.3243A\>G | A3243G\-F186 | United States | MELAS | 0 | 0 | 1996 | [8773598](https://pubmed.ncbi.nlm.nih.gov/8773598/) | P8 biopsied\-muscle MELAS\-3243 case; no pedigree or mapped maternal relatives. |
| 187 | 3243 | m.3243A\>G | A3243G\-F187 | Taiwan | MELAS fibroblast donor with A3243G and altered mitochondrial function | 0 | 0 | 1996 | [8809026](https://pubmed.ncbi.nlm.nih.gov/8809026/) | / |
| 188 | 3243 | m.3243A\>G |[ A3243G\-F188](https://mitofam.com/doc/1058/) | Netherlands | A3243G longitudinal leukocyte heteroplasmy in MIDD pedigree V | 0 | 0 | 1996 | [8829651](https://pubmed.ncbi.nlm.nih.gov/8829651/) | Pedigree V; Table 1 gives leukocyte heteroplasmy at two time points. |
| 189 | 3243 | m.3243A\>G | A3243G\-F189 | Netherlands | A3243G longitudinal leukocyte heteroplasmy in pedigree 117 | 0 | 0 | 1996 | [8829651](https://pubmed.ncbi.nlm.nih.gov/8829651/) | Pedigree 117; Table 1 gives leukocyte heteroplasmy at two time points. |
| 190 | 3243 | m.3243A\>G |[ A3243G\-F190](https://mitofam.com/doc/1059/) | Netherlands | A3243G longitudinal leukocyte heteroplasmy in pedigree S | 0 | 0 | 1996 | [8829651](https://pubmed.ncbi.nlm.nih.gov/8829651/) | Pedigree S; Table 1 gives leukocyte heteroplasmy at two time points. |
| 191 | 3243 | m.3243A\>G | [A3243G\-F191 ](https://mitofam.com/doc/1060/)| Korea | diabetes mellitus with myoclonic epilepsy and sensorineural hearing loss | 2 | 0 | 1997 | [9024220](https://pubmed.ncbi.nlm.nih.gov/9024220/) | One Korean A3243G family detected from a 503\-patient diabetes cohort. |
| 192 | 3243 | m.3243A\>G | [A3243G\-F192](https://mitofam.com/doc/1061) | Japan | Diabetes mellitus with mitochondrial myopathy features | 0 | 1 | 1997 | [9073028](https://pubmed.ncbi.nlm.nih.gov/9073028/) | Fig.1 family tree carrier plus Table 1/Table 2 proband. |
| 193 | 3243 | m.3243A\>G | A3243G\-F193 | Japan | Diabetes mellitus with mitochondrial myopathy features | 0 | 0 | 1997 | [9073028](https://pubmed.ncbi.nlm.nih.gov/9073028/) | Fig.1 family tree plus Table 1/Table 2 proband. |
| 194 | 3243 | m.3243A\>G | A3243G\-F194 | Japan | Diabetes mellitus with mitochondrial myopathy features | 0 | 0 | 1997 | [9073028](https://pubmed.ncbi.nlm.nih.gov/9073028/) | Fig.1 family tree plus Table 1/Table 2 proband. |
| 195 | 3243 | m.3243A\>G | A3243G\-F195 | Japan | Diabetes mellitus with mitochondrial myopathy features | 0 | 2 | 1997 | [9073028](https://pubmed.ncbi.nlm.nih.gov/9073028/) | Family4 has one carrier row but nonzero H because Fig.1 supports mother\-level G/H inference. |
| 196 | 3243 | m.3243A\>G | [A3243G\-F196](https://mitofam.com/doc/1062) | Japan | Diabetes mellitus with mitochondrial myopathy features | 0 | 1 | 1997 | [9073028](https://pubmed.ncbi.nlm.nih.gov/9073028/) | Fig.1 family tree carrier plus Table 1/Table 2 proband. |
| 197 | 3243 | m.3243A\>G |[ A3243G\-F197](https://mitofam.com/doc/1063) | Japan | Impaired glucose tolerance with mitochondrial myopathy features | 0 | 1 | 1997 | [9073028](https://pubmed.ncbi.nlm.nih.gov/9073028/) | Fig.1 family tree carrier plus Table 1/Table 2 proband. |
| 198 | 3243 | m.3243A\>G | [A3243G\-F198](https://mitofam.com/doc/1064) | Japan | Depressive disorder with A3243G, WPW syndrome, sensorineural hearing loss, and maternal diabetes | 0 | 1 | 1997 | [9146825](https://pubmed.ncbi.nlm.nih.gov/9146825/) | Case report; patient and mother are A3243G\-positive, tissue source not specified in extracted text. |
| 199 | 3243 | m.3243A\>G |[ A3243G\-F199](https://mitofam.com/doc/1065) | Japan | Sensorineural deafness; diabetes mellitus; nephritis in family | 3 | 4 | 1997 | [9149827](https://pubmed.ncbi.nlm.nih.gov/9149827/) | Carrier rows limited to molecularly positive leukocyte\-tested sisters; untested children counted only in G/H. |
| 200 | 3243 | m.3243A\>G | [A3243G\-F200](https://mitofam.com/doc/1066) | Belgium | Diabetes, sensorineural hearing loss, and macular pattern dystrophy | 2 | 0 | 1997 | [9196933](https://pubmed.ncbi.nlm.nih.gov/9196933/) | Case 1 plus mutation\-positive mother and sister. |
| 201 | 3243 | m.3243A\>G | [A3243G\-F201 ](https://mitofam.com/doc/1067)| Belgium | Diabetes, sensorineural hearing loss, and macular pattern dystrophy | 2 | 1 | 1997 | [9196933](https://pubmed.ncbi.nlm.nih.gov/9196933/) | Cases 2 and 3 are sisters; Case 2's three sons all harbor A3243G in variable degree. |
| 202 | 3243 | m.3243A\>G | A3243G\-F202 | Belgium | Diabetes, sensorineural hearing loss, and macular pattern dystrophy | 0 | 0 | 1997 | [9196933](https://pubmed.ncbi.nlm.nih.gov/9196933/) | Case 4 single patient; daughters refused investigation. |
| 203 | 3243 | m.3243A\>G | [A3243G\-F203 ](https://mitofam.com/doc/1068)| United Kingdom | Maternally inherited diabetes and deafness with impaired glucose tolerance | 0 | 3 | 1997 | [9212310](https://pubmed.ncbi.nlm.nih.gov/9212310/) | Figure 1 pedigree. |
| 204 | 3243 | m.3243A\>G | [A3243G\-F204](https://mitofam.com/doc/1069) | Netherlands | Progressive kidney disease, diabetes, and sensorineural hearing loss with A3243G | 7 | 6 | 1997 | [9219161](https://pubmed.ncbi.nlm.nih.gov/9219161/) | Family A from Figure 1/Table 1; includes eligible untested children of A\-IV\-8 and A\-IV\-9\. |
| 205 | 3243 | m.3243A\>G | [A3243G\-F205](https://mitofam.com/doc/1070) | Netherlands | Progressive kidney disease, diabetes, and sensorineural hearing loss with A3243G | 2 | 0 | 1997 | [9219161](https://pubmed.ncbi.nlm.nih.gov/9219161/) | Family B from Figure 1/Table 1; adds two untested unaffected children of the target\-positive proband. |
| 206 | 3243 | m.3243A\>G | [A3243G\-F206 ](https://mitofam.com/doc/1071)| Netherlands | Progressive kidney disease, diabetes, and sensorineural hearing loss with A3243G | 4 | 1 | 1997 | [9219161](https://pubmed.ncbi.nlm.nih.gov/9219161/) | Family C from Figure 1/Table 1; includes C\-III\-1 plus proband and eligible untested children. |
| 207 | 3243 | m.3243A\>G |[ A3243G\-F207 ](https://mitofam.com/doc/1072)| Portugal | Severe cardiomyopathy with A3243G; mild hyperlactacidemia in molecularly positive maternal relatives | 1 | 1 | 1997 | [9222976](https://pubmed.ncbi.nlm.nih.gov/9222976/) | Portuguese family with proband, mother, and older brother molecularly positive; 14 other maternal relatives blood\-negative. |
| 208 | 3243 | m.3243A\>G | A3243G\-F208 | Japan | Mitochondrial diabetes with A3243G | 0 | 0 | 1997 | [9225833](https://pubmed.ncbi.nlm.nih.gov/9225833/) | Cohort subject with A3243G detected in peripheral leukocyte DNA; no individually described eligible maternal relatives. |
| 209 | 3243 | m.3243A\>G | A3243G\-F209 | Japan | Mitochondrial diabetes with A3243G | 0 | 0 | 1997 | [9225833](https://pubmed.ncbi.nlm.nih.gov/9225833/) | Cohort subject with A3243G detected in peripheral leukocyte DNA; no individually described eligible maternal relatives. |
| 210 | 3243 | m.3243A\>G | A3243G\-F210 | Japan | Mitochondrial diabetes with A3243G | 0 | 0 | 1997 | [9225833](https://pubmed.ncbi.nlm.nih.gov/9225833/) | Cohort subject with A3243G detected in peripheral leukocyte DNA; no individually described eligible maternal relatives. |
| 211 | 3243 | m.3243A\>G | A3243G\-F211 | Japan | Mitochondrial diabetes with A3243G | 0 | 0 | 1997 | [9225833](https://pubmed.ncbi.nlm.nih.gov/9225833/) | Cohort subject with A3243G detected in peripheral leukocyte DNA; no individually described eligible maternal relatives. |
| 212 | 3243 | m.3243A\>G |[ A3243G\-F212 ](https://mitofam.com/doc/1073)| Finland | macular pattern retinal dystrophy, adult\-onset diabetes, and deafness | 1 | 6 | 1997 | [9262546](https://pubmed.ncbi.nlm.nih.gov/9262546/) | Fig. 2 pedigree; IV\-VIII are G/H\-only clinical relatives, not carrier rows. |
| 213 | 3243 | m.3243A\>G | A3243G\-F213 | Japan | Maternally inherited diabetes and deafness with cerebellar ataxia | 0 | 0 | 1997 | [9266470](https://pubmed.ncbi.nlm.nih.gov/9266470/) | Single case report/letter; no countable maternal relatives. |
| 214 | 3243 | m.3243A\>G | [A3243G\-F214](https://mitofam.com/doc/1074) | China | Leigh syndrome\-like mitochondrial encephalopathy | 0 | 0 | 1997 | [9323566](https://pubmed.ncbi.nlm.nih.gov/9323566/) | Case 2 from Macau; relatives are molecular\-positive by text but tissue/load and phenotype are not reported. |
| 215 | 3243 | m.3243A\>G | A3243G\-F215 | Germany | MELAS with A3243G | 0 | 0 | 1997 | [9341162](https://pubmed.ncbi.nlm.nih.gov/9341162/) | Patient\-derived P30 EBV\-transformed B\-lymphoblastoid cell line. |
| 216 | 3243 | m.3243A\>G | A3243G\-F216 | Germany | MELAS with A3243G | 0 | 0 | 1997 | [9341162](https://pubmed.ncbi.nlm.nih.gov/9341162/) | Patient\-derived P70 EBV\-transformed B\-lymphoblastoid cell line. |
| 217 | 3243 | m.3243A\>G | A3243G\-F217 | France | Maternally inherited diabetes and deafness | 0 | 0 | 1997 | [9353617](https://pubmed.ncbi.nlm.nih.gov/9353617/) | A3243G comparator proband B; no A3243G pedigree figure in this paper. |
| 218 | 3243 | m.3243A\>G | A3243G\-F218 | France | Maternally inherited diabetes and deafness | 0 | 0 | 1997 | [9353617](https://pubmed.ncbi.nlm.nih.gov/9353617/) | A3243G comparator proband M; no A3243G pedigree figure in this paper. |
| 219 | 3243 | m.3243A\>G | A3243G\-F219 | France | Maternally inherited diabetes and deafness | 0 | 0 | 1997 | [9353617](https://pubmed.ncbi.nlm.nih.gov/9353617/) | A3243G comparator proband P; no A3243G pedigree figure in this paper. |
| 220 | 3243 | m.3243A\>G | A3243G\-F220 | Japan | Type 2 diabetes with sensorineural auditory disturbance and A3243G | 0 | 0 | 1997 | [9353631](https://pubmed.ncbi.nlm.nih.gov/9353631/) | Original screening letter with one individually identified positive female patient; no family data. |
| 221 | 3243 | m.3243A\>G | A3243G\-F221 | Japan | MIDD with psychiatric symptoms | 6 | 5 | 1997 | [9386859](https://pubmed.ncbi.nlm.nih.gov/9386859/) | Figure 2 is used only for G/H. Carrier rows remain limited to the molecularly tested proband. |
| 222 | 3243 | m.3243A\>G | A3243G\-F222 | Hong Kong Chinese | IDDM with A3243G | 0 | 2 | 1997 | [9455929](https://pubmed.ncbi.nlm.nih.gov/9455929/) | Patient 1 is A3243G\-positive; mother and sister had diabetes and are counted for G/H only because they were not molecularly tested. |
| 223 | 3243 | m.3243A\>G | A3243G\-F223 | Hong Kong Chinese | IDDM with A3243G | 0 | 0 | 1997 | [9455929](https://pubmed.ncbi.nlm.nih.gov/9455929/) | Patient 2 is A3243G\-positive; mother and maternal grandmother had NIDDM but no molecular testing and no additional affected sibling is reported. |
| 224 | 3243 | m.3243A\>G |[ A3243G\-F224](https://mitofam.com/doc/1075) | Hong Kong Chinese | NIDDM/IGT with A3243G family evidence | 1 | 3 | 1997 | [9455929](https://pubmed.ncbi.nlm.nih.gov/9455929/) | Patient 3 is A3243G\-positive; mother, two sisters, and son were blood\-negative for mt3243\. Mother and sisters are eligible through mother\-level inference; son is eligible as a negative\-tested child of a target\-positive mother. |
| 225 | 3243 | m.3243A\>G | A3243G\-F225 | Hong Kong Chinese | NIDDM with A3243G | 0 | 0 | 1997 | [9455929](https://pubmed.ncbi.nlm.nih.gov/9455929/) | Patient 4 is A3243G\-positive; mother had NIDDM and deafness but no molecular testing and no additional affected sibling is reported. |
| 226 | 3243 | m.3243A\>G | A3243G\-F226 | Japan | Maternally transmitted diabetes with or without hearing impairment | 0 | 0 | 1997 | [9455930](https://pubmed.ncbi.nlm.nih.gov/9455930/) | Table 2 screening case; no pedigree figure. |
| 227 | 3243 | m.3243A\>G | A3243G\-F227 | Japan | Maternally transmitted diabetes with or without hearing impairment | 0 | 0 | 1997 | [9455930](https://pubmed.ncbi.nlm.nih.gov/9455930/) | Table 2 screening case; no pedigree figure. |
| 228 | 3243 | m.3243A\>G | A3243G\-F228 | Japan | Maternally transmitted diabetes with or without hearing impairment | 0 | 0 | 1997 | [9455930](https://pubmed.ncbi.nlm.nih.gov/9455930/) | Table 2 screening case; no pedigree figure. |
| 229 | 3243 | m.3243A\>G | A3243G\-F229 | Japan | Maternally transmitted diabetes with or without hearing impairment | 0 | 0 | 1997 | [9455930](https://pubmed.ncbi.nlm.nih.gov/9455930/) | Table 2 screening case; no pedigree figure. |
| 230 | 3243 | m.3243A\>G | A3243G\-F230 | Japan | Maternally transmitted diabetes with or without hearing impairment | 0 | 0 | 1997 | [9455930](https://pubmed.ncbi.nlm.nih.gov/9455930/) | Table 2 screening case; no pedigree figure. |
| 231 | 3243 | m.3243A\>G | A3243G\-F231 | Japan | Maternally transmitted diabetes with or without hearing impairment | 0 | 0 | 1997 | [9455930](https://pubmed.ncbi.nlm.nih.gov/9455930/) | Table 2 screening case; no pedigree figure. |
| 232 | 3243 | m.3243A\>G | A3243G\-F232 | Japan | Maternally transmitted diabetes with or without hearing impairment | 0 | 0 | 1997 | [9455930](https://pubmed.ncbi.nlm.nih.gov/9455930/) | Table 2 screening case; no pedigree figure. |
| 233 | 3243 | m.3243A\>G | A3243G\-F233 | Japan | MELAS with diabetes; pancreatic exocrine dysfunction investigated | 0 | 0 | 1998 | [9541116](https://pubmed.ncbi.nlm.nih.gov/9541116/) | Figure 1 Family A; no countable maternal relatives beyond the explicit proband. |
| 234 | 3243 | m.3243A\>G | [A3243G\-F234 ](https://mitofam.com/doc/1076)| Japan | Diabetes/IGT with maternal A3243G; pancreatic exocrine dysfunction investigated | 0 | 1 | 1998 | [9541116](https://pubmed.ncbi.nlm.nih.gov/9541116/) | Figure 1 Family B; the untested older mother is clinical\-only for this task. |
| 235 | 3243 | m.3243A\>G | [A3243G\-F235 ](https://mitofam.com/doc/1077)| Japan | Diabetes/MELAS with pancreatic exocrine dysfunction investigated | 0 | 1 | 1998 | [9541116](https://pubmed.ncbi.nlm.nih.gov/9541116/) | Figure 1 Family C; mother and son are both target\-positive. |
| 236 | 3243 | m.3243A\>G | A3243G\-F236 | Netherlands | MELAS with psychiatric symptoms | 0 | 0 | 1998 | [9598702](https://pubmed.ncbi.nlm.nih.gov/9598702/) | Singleton case report; family history is noncontributory for G/H. |
| 237 | 3243 | m.3243A\>G | A3243G\-F237 | Russia | Kearns\-Sayre/MELAS overlap syndrome with pyruvate dehydrogenase complex deficiency and altered respiratory chain function | 0 | 0 | 1998 | [9619647](https://pubmed.ncbi.nlm.nih.gov/9619647/) | Figure 1 pedigree; maternal transmission is not established because the mother tested wildtype/\<5% in leukocyte mtDNA. |
| 238 | 3243 | m.3243A\>G | A3243G\-F238 | Korea | Diabetes mellitus with A3243G; no hearing impairment reported | 0 | 0 | 1998 | [9625453](https://pubmed.ncbi.nlm.nih.gov/9625453/) | Single unrelated screening\-positive patient; no pedigree or family testing. |
| 239 | 3243 | m.3243A\>G | A3243G\-F239 | Korea | Diabetes mellitus with A3243G; no hearing impairment reported | 0 | 0 | 1998 | [9625453](https://pubmed.ncbi.nlm.nih.gov/9625453/) | Single unrelated screening\-positive patient; no pedigree or family testing. |
| 240 | 3243 | m.3243A\>G | [A3243G\-F240](https://mitofam.com/doc/1078) | Sweden | Diabetes mellitus and sensorineural hearing loss with A3243G | 1 | 4 | 1998 | [9633820](https://pubmed.ncbi.nlm.nih.gov/9633820/) | Family A from Figure 1/Table 1\. |
| 241 | 3243 | m.3243A\>G | [A3243G\-F241](https://mitofam.com/doc/1079) | Sweden | Diabetes mellitus and sensorineural hearing loss with A3243G | 2 | 1 | 1998 | [9633820](https://pubmed.ncbi.nlm.nih.gov/9633820/) | Family B from Figure 1/Table 1\. |
| 242 | 3243 | m.3243A\>G | [A3243G\-F242]([https://mitofam.com/doc/1080]()) | Sweden | Diabetes mellitus and sensorineural hearing loss with A3243G | 2 | 10 | 1998 | [9633820](https://pubmed.ncbi.nlm.nih.gov/9633820/) | Family C from Figure 1/Table 1; excludes CII\-3 clinical\-only hearing\-loss relative. |
| 243 | 3243 | m.3243A\>G | A3243G\-F243 | Finland | A3243G\-associated mitochondrial disease spectrum identified by population screening | 0 | 0 | 1998 | [9683591](https://pubmed.ncbi.nlm.nih.gov/9683591/) | Table 3 proband\-level family; no family\-tree figure. |
| 244 | 3243 | m.3243A\>G | A3243G\-F244 | Finland | A3243G\-associated mitochondrial disease spectrum identified by population screening | 0 | 0 | 1998 | [9683591](https://pubmed.ncbi.nlm.nih.gov/9683591/) | Table 3 proband\-level family; no family\-tree figure. |
| 245 | 3243 | m.3243A\>G | A3243G\-F245 | Finland | A3243G\-associated mitochondrial disease spectrum identified by population screening | 0 | 0 | 1998 | [9683591](https://pubmed.ncbi.nlm.nih.gov/9683591/) | Table 3 proband\-level family; no family\-tree figure. |
| 246 | 3243 | m.3243A\>G | A3243G\-F246 | Finland | A3243G\-associated mitochondrial disease spectrum identified by population screening | 0 | 0 | 1998 | [9683591](https://pubmed.ncbi.nlm.nih.gov/9683591/) | Table 3 proband\-level family; no family\-tree figure. |
| 247 | 3243 | m.3243A\>G | A3243G\-F247 | Finland | A3243G\-associated mitochondrial disease spectrum identified by population screening | 0 | 0 | 1998 | [9683591](https://pubmed.ncbi.nlm.nih.gov/9683591/) | Table 3 proband\-level family; no family\-tree figure. |
| 248 | 3243 | m.3243A\>G | A3243G\-F248 | Finland | A3243G\-associated mitochondrial disease spectrum identified by population screening | 0 | 0 | 1998 | [9683591](https://pubmed.ncbi.nlm.nih.gov/9683591/) | Table 3 proband\-level family; no family\-tree figure. |
| 249 | 3243 | m.3243A\>G | A3243G\-F249 | Finland | A3243G\-associated mitochondrial disease spectrum identified by population screening | 0 | 0 | 1998 | [9683591](https://pubmed.ncbi.nlm.nih.gov/9683591/) | Table 3 proband\-level family; no family\-tree figure. |
| 250 | 3243 | m.3243A\>G | A3243G\-F250 | Finland | A3243G\-associated mitochondrial disease spectrum identified by population screening | 0 | 0 | 1998 | [9683591](https://pubmed.ncbi.nlm.nih.gov/9683591/) | Table 3 proband\-level family; no family\-tree figure. |
| 251 | 3243 | m.3243A\>G | A3243G\-F251 | Finland | A3243G\-associated mitochondrial disease spectrum identified by population screening | 0 | 0 | 1998 | [9683591](https://pubmed.ncbi.nlm.nih.gov/9683591/) | Table 3 proband\-level family; no family\-tree figure. |
| 252 | 3243 | m.3243A\>G | A3243G\-F252 | Finland | A3243G\-associated mitochondrial disease spectrum identified by population screening | 0 | 0 | 1998 | [9683591](https://pubmed.ncbi.nlm.nih.gov/9683591/) | Table 3 proband\-level family; no family\-tree figure. |
| 253 | 3243 | m.3243A\>G | A3243G\-F253 | Finland | A3243G\-associated mitochondrial disease spectrum identified by population screening | 0 | 0 | 1998 | [9683591](https://pubmed.ncbi.nlm.nih.gov/9683591/) | Table 3 proband\-level family; no family\-tree figure. |
| 254 | 3243 | m.3243A\>G | A3243G\-F254 | Japan | MELAS | 0 | 0 | 1998 | [9741403](https://pubmed.ncbi.nlm.nih.gov/9741403/) | MELAS1 singleton muscle\-biopsy subject; mother had diabetes but no target molecular testing and no additional affected sibling reported. |
| 255 | 3243 | m.3243A\>G | A3243G\-F255 | Japan | MELAS | 0 | 2 | 1998 | [9741403](https://pubmed.ncbi.nlm.nih.gov/9741403/) | MELAS2 with two affected sisters reported; sisters are counted only for G/H and are not carrier rows because they had no molecular testing. |
| 256 | 3243 | m.3243A\>G | A3243G\-F256 | Japan | MELAS | 0 | 0 | 1998 | [9741403](https://pubmed.ncbi.nlm.nih.gov/9741403/) | MELAS3 singleton muscle\-biopsy subject; family history noncontributory. |
| 257 | 3243 | m.3243A\>G | A3243G\-F257 | Japan | mitochondrial diabetes mellitus | 0 | 0 | 1998 | [9741403](https://pubmed.ncbi.nlm.nih.gov/9741403/) | MDM1 singleton muscle\-biopsy subject; family history of diabetes was reported without relationship details. |
| 258 | 3243 | m.3243A\>G | A3243G\-F258 | Japan | mitochondrial diabetes mellitus | 0 | 0 | 1998 | [9741403](https://pubmed.ncbi.nlm.nih.gov/9741403/) | MDM2 singleton muscle\-biopsy subject; no qualifying pedigree or maternal relative data reported. |
| 259 | 3243 | m.3243A\>G | A3243G\-F259 | USA | MELAS autopsy case report | 0 | 0 | 1998 | [9822126](https://pubmed.ncbi.nlm.nih.gov/9822126/) | Rendered low\-text PDF confirms singleton autopsy case with 3243 mutation. |
| 260 | 3243 | m.3243A\>G | A3243G\-F260 | Taiwan | Sporadic MELAS with autoimmune insulin\-dependent diabetes | 0 | 0 | 1998 | [9828917](https://pubmed.ncbi.nlm.nih.gov/9828917/) | Original sporadic/de novo case; tested family members were negative, so no countable maternal relatives. |
| 261 | 3243 | m.3243A\>G | A3243G\-F261 | Taiwan | Mitochondrial myopathy with predominant respiratory dysfunction | 0 | 0 | 1998 | [9830283](https://pubmed.ncbi.nlm.nih.gov/9830283/) | Rendered low\-text PDF confirms singleton A3243G case with no pedigree or countable relatives. |
| 262 | 3243 | m.3243A\>G | [A3243G\-F262](https://mitofam.com/doc/1081) | Germany | Maternally inherited diabetes and deafness with A3243G; epilepsy/Parkinson features in maternal family | 2 | 2 | 1998 | [9831303](https://pubmed.ncbi.nlm.nih.gov/9831303/) | Original paper family 1\. |
| 263 | 3243 | m.3243A\>G | [A3243G\-F263](https://mitofam.com/doc/1082) | Germany | Maternally inherited diabetes and deafness with A3243G; epilepsy/Addison features in maternal family | 1 | 1 | 1998 | [9831303](https://pubmed.ncbi.nlm.nih.gov/9831303/) | Original paper family 2\. |
| 264 | 3243 | m.3243A\>G | A3243G\-F264 | Japan | FSGS and mitochondrial cytopathy with A3243G | 0 | 0 | 1998 | [9845835](https://pubmed.ncbi.nlm.nih.gov/9845835/) | / |
| 265 | 3243 | m.3243A\>G | [A3243G\-F265](https://mitofam.com/doc/1083) | United States | Adult\-onset MELAS presenting after herpes encephalitis\-like episode | 2 | 0 | 1999 | [10025431](https://pubmed.ncbi.nlm.nih.gov/10025431/) | / |
| 266 | 3243 | m.3243A\>G | A3243G\-F266 | Australia | MELAS with isolated respiratory\-chain complex I deficiency | 0 | 0 | 1999 | [10214753](https://pubmed.ncbi.nlm.nih.gov/10214753/) | / |
| 267 | 3243 | m.3243A\>G | A3243G\-F267 | Australia | MELAS with isolated respiratory\-chain complex I deficiency | 0 | 0 | 1999 | [10214753](https://pubmed.ncbi.nlm.nih.gov/10214753/) | / |
| 268 | 3243 | m.3243A\>G | [A3243G\-F268](https://mitofam.com/doc/1084) | United Kingdom | MIDD; pigmentary retinal dystrophy | 0 | 2 | 1999 | [10366077](https://pubmed.ncbi.nlm.nih.gov/10366077/) | Pedigree 1; Table 1 lists proband 1\-1, son 1\-2, and mother 1\-3\. |
| 269 | 3243 | m.3243A\>G | A3243G\-F269 | United Kingdom | MIDD; pigmentary retinal dystrophy | 0 | 0 | 1999 | [10366077](https://pubmed.ncbi.nlm.nih.gov/10366077/) | Pedigree 2; only proband 2\-1 is reported with subject\-level A3243G data. |
| 270 | 3243 | m.3243A\>G | [A3243G\-F270](https://mitofam.com/doc/1085) | United Kingdom | MIDD; pigmentary retinal dystrophy | 0 | 2 | 1999 | [10366077](https://pubmed.ncbi.nlm.nih.gov/10366077/) | Pedigree 3; Table 1 lists proband 3\-1, daughter 3\-2, and brother 3\-3\. |
| 271 | 3243 | m.3243A\>G | [A3243G\-F271](https://mitofam.com/doc/1086) | United Kingdom | MIDD; pigmentary retinal dystrophy | 0 | 1 | 1999 | [10366077](https://pubmed.ncbi.nlm.nih.gov/10366077/) | Pedigree 4; includes proband 4\-1, sister 4\-2, and two A3243G\-positive non\-participating relatives of 4\-2\. |
| 272 | 3243 | m.3243A\>G |[ A3243G\-F272](https://mitofam.com/doc/1087) | United Kingdom | MIDD; pigmentary retinal dystrophy | 0 | 1 | 1999 | [10366077](https://pubmed.ncbi.nlm.nih.gov/10366077/) | Pedigree 5; Table 1 lists proband 5\-1 and daughter 5\-2\. |
| 273 | 3243 | m.3243A\>G | A3243G\-F273 | United Kingdom | MIDD; pigmentary retinal dystrophy | 0 | 0 | 1999 | [10366077](https://pubmed.ncbi.nlm.nih.gov/10366077/) | Pedigree 6; only proband 6\-1 is reported with subject\-level A3243G data. |
| 274 | 3243 | m.3243A\>G | A3243G\-F274 | United Kingdom | MIDD; pigmentary retinal dystrophy | 0 | 0 | 1999 | [10366077](https://pubmed.ncbi.nlm.nih.gov/10366077/) | Pedigree 7; only proband 7\-1 is reported with subject\-level A3243G data. |
| 275 | 3243 | m.3243A\>G | A3243G\-F275 | Germany | Painful muscle stiffness/myopathy with A3243G | 0 | 0 | 1999 | [10407850](https://pubmed.ncbi.nlm.nih.gov/10407850/) | Original singleton case; relatives were not molecularly tested. |
| 276 | 3243 | m.3243A\>G | [A3243G\-F276](https://mitofam.com/doc/1088) | Korea | Hereditary glomerulopathy/FSGS with proteinuria, diabetes, sensorineural hearing loss and seizure disorder in maternal family | 0 | 3 | 1999 | [10452273](https://pubmed.ncbi.nlm.nih.gov/10452273/) | Fig. 3/4 support four molecularly positive affected carrier rows. |
| 277 | 3243 | m.3243A\>G | A3243G\-F277 | Japan | Diabetes mellitus with A3243G and renal complications | 0 | 0 | 1999 | [10462141](https://pubmed.ncbi.nlm.nih.gov/10462141/) | Patient 1 singleton index case; no pedigree or molecularly tested relatives. |
| 278 | 3243 | m.3243A\>G | A3243G\-F278 | Japan | Diabetes mellitus with A3243G and renal complications | 0 | 0 | 1999 | [10462141](https://pubmed.ncbi.nlm.nih.gov/10462141/) | Patient 2 singleton index case; no pedigree or molecularly tested relatives. |
| 279 | 3243 | m.3243A\>G | A3243G\-F279 | Japan | Diabetes mellitus with A3243G and renal complications | 0 | 0 | 1999 | [10462141](https://pubmed.ncbi.nlm.nih.gov/10462141/) | Patient 3 singleton index case; no pedigree or molecularly tested relatives. |
| 280 | 3243 | m.3243A\>G | A3243G\-F280 | Japan | Diabetes mellitus with A3243G and renal complications | 0 | 0 | 1999 | [10462141](https://pubmed.ncbi.nlm.nih.gov/10462141/) | Patient 4 singleton index case; no pedigree or molecularly tested relatives. |
| 281 | 3243 | m.3243A\>G | A3243G\-F281 | Japan | Diabetes mellitus with A3243G and renal complications | 0 | 0 | 1999 | [10462141](https://pubmed.ncbi.nlm.nih.gov/10462141/) | Patient 5 singleton index case; no pedigree or molecularly tested relatives. |
| 282 | 3243 | m.3243A\>G | A3243G\-F282 | Japan | Diabetes mellitus with A3243G and renal complications | 0 | 0 | 1999 | [10462141](https://pubmed.ncbi.nlm.nih.gov/10462141/) | Patient 6 singleton index case; no pedigree or molecularly tested relatives. |
| 283 | 3243 | m.3243A\>G | A3243G\-F283 | Japan | Diabetes mellitus with A3243G and renal complications | 0 | 1 | 1999 | [10462141](https://pubmed.ncbi.nlm.nih.gov/10462141/) | Patient 7 singleton index case; mother is clinical\-only and excluded. |
| 284 | 3243 | m.3243A\>G | A3243G\-F284 | Japan | Diabetes mellitus with A3243G and renal complications | 0 | 0 | 1999 | [10462141](https://pubmed.ncbi.nlm.nih.gov/10462141/) | Patient 8 singleton index case; no pedigree or molecularly tested relatives. |
| 285 | 3243 | m.3243A\>G | A3243G\-F285 | Japan | Diabetes mellitus with A3243G and renal complications | 0 | 0 | 1999 | [10462141](https://pubmed.ncbi.nlm.nih.gov/10462141/) | Patient 9 singleton index case; no pedigree or molecularly tested relatives. |
| 286 | 3243 | m.3243A\>G | A3243G\-F286 | Japan | Diabetes mellitus with A3243G and renal complications | 0 | 0 | 1999 | [10462141](https://pubmed.ncbi.nlm.nih.gov/10462141/) | Patient 10 singleton index case; no pedigree or molecularly tested relatives. |
| 287 | 3243 | m.3243A\>G | A3243G\-F287 | Japan | Diabetes mellitus with A3243G and renal complications | 0 | 0 | 1999 | [10462141](https://pubmed.ncbi.nlm.nih.gov/10462141/) | Patient 11 singleton index case; no pedigree or molecularly tested relatives. |
| 288 | 3243 | m.3243A\>G | A3243G\-F288 | Japan | sensorineural hearing loss with nt3,243 mutation | 0 | 0 | 1999 | [10890789](https://pubmed.ncbi.nlm.nih.gov/10890789/) | Table I reports one unrelated patient; relatives are clinically described only. |
| 289 | 3243 | m.3243A\>G | A3243G\-F289 | Japan | sensorineural hearing loss with nt3,243 mutation | 0 | 0 | 1999 | [10890789](https://pubmed.ncbi.nlm.nih.gov/10890789/) | Table I reports one unrelated patient; relatives are clinically described only. |
| 290 | 3243 | m.3243A\>G | A3243G\-F290 | Japan | sensorineural hearing loss with nt3,243 mutation | 0 | 1 | 1999 | [10890789](https://pubmed.ncbi.nlm.nih.gov/10890789/) | Family history is clinically positive, but no relative has target\-mutation evidence in this PDF. |
| 291 | 3243 | m.3243A\>G | A3243G\-F291 | United Kingdom | A3243G\-associated hearing impairment/MELAS/MIDD | 0 | 0 | 2000 | [10611123](https://pubmed.ncbi.nlm.nih.gov/10611123/) | Patient 1; singleton cohort subject, no pedigree or count\-eligible maternal relatives reported. |
| 292 | 3243 | m.3243A\>G | A3243G\-F292 | United Kingdom | A3243G\-associated hearing impairment/MELAS/MIDD | 0 | 0 | 2000 | [10611123](https://pubmed.ncbi.nlm.nih.gov/10611123/) | Patient 7; singleton cohort subject, no pedigree or count\-eligible maternal relatives reported. |
| 293 | 3243 | m.3243A\>G | A3243G\-F293 | United Kingdom | A3243G\-associated hearing impairment/MELAS/MIDD | 0 | 0 | 2000 | [10611123](https://pubmed.ncbi.nlm.nih.gov/10611123/) | Patient 12; singleton cohort subject, no pedigree or count\-eligible maternal relatives reported. |
| 294 | 3243 | m.3243A\>G | A3243G\-F294 | United Kingdom | A3243G\-associated hearing impairment/MELAS/MIDD | 0 | 0 | 2000 | [10611123](https://pubmed.ncbi.nlm.nih.gov/10611123/) | Patient 13; singleton cohort subject, no pedigree or count\-eligible maternal relatives reported. |
| 295 | 3243 | m.3243A\>G | A3243G\-F295 | United Kingdom | A3243G\-associated hearing impairment/MELAS/MIDD | 0 | 0 | 2000 | [10611123](https://pubmed.ncbi.nlm.nih.gov/10611123/) | Patient 15; singleton cohort subject, no pedigree or count\-eligible maternal relatives reported. |
| 296 | 3243 | m.3243A\>G | A3243G\-F296 | United Kingdom | A3243G\-associated hearing impairment/MELAS/MIDD | 0 | 0 | 2000 | [10611123](https://pubmed.ncbi.nlm.nih.gov/10611123/) | Patient 18; singleton cohort subject, no pedigree or count\-eligible maternal relatives reported. |
| 297 | 3243 | m.3243A\>G | A3243G\-F297 | United Kingdom | A3243G\-associated hearing impairment/MELAS/MIDD | 0 | 0 | 2000 | [10611123](https://pubmed.ncbi.nlm.nih.gov/10611123/) | Patient 19; singleton cohort subject, no pedigree or count\-eligible maternal relatives reported. |
| 298 | 3243 | m.3243A\>G | A3243G\-F298 | United Kingdom | A3243G\-associated hearing impairment/MELAS/MIDD | 0 | 0 | 2000 | [10611123](https://pubmed.ncbi.nlm.nih.gov/10611123/) | Patient 20; singleton cohort subject, no pedigree or count\-eligible maternal relatives reported. |
| 299 | 3243 | m.3243A\>G | A3243G\-F299 | United Kingdom | A3243G\-associated hearing impairment/MELAS/MIDD | 0 | 0 | 2000 | [10611123](https://pubmed.ncbi.nlm.nih.gov/10611123/) | Patient 21; singleton cohort subject, no pedigree or count\-eligible maternal relatives reported. |
| 300 | 3243 | m.3243A\>G | A3243G\-F300 | United Kingdom | A3243G\-associated hearing impairment/MELAS/MIDD | 0 | 0 | 2000 | [10611123](https://pubmed.ncbi.nlm.nih.gov/10611123/) | Patient 22; singleton cohort subject, no pedigree or count\-eligible maternal relatives reported. |
| 301 | 3243 | m.3243A\>G | A3243G\-F301 | Japan | Bilateral hearing loss with diabetes and 3243A\>G | 0 | 0 | 2000 | [10633132](https://pubmed.ncbi.nlm.nih.gov/10633132/) | Single low\-information screening\-positive outpatient; no pedigree. |
| 302 | 3243 | m.3243A\>G | [A3243G\-F302](https://mitofam.com/doc/1089/) | Canada | MELAS spectrum with A3243G mutation | 10 | 5 | 2000 | [10665488](https://pubmed.ncbi.nlm.nih.gov/10665488/) | Figure\-first count; table rows plus Fig.1\-only affected carrier symbols. |
| 303 | 3243 | m.3243A\>G | A3243G\-F303 | Finland | Childhood encephalopathy/myopathy with A3243G | 0 | 0 | 2000 | [10699115](https://pubmed.ncbi.nlm.nih.gov/10699115/) | Prospective cohort paper; one A3243G\-positive boy, no pedigree or countable relatives. |
| 304 | 3243 | m.3243A\>G | [A3243G\-F304 ](https://mitofam.com/doc/1090/)| United Kingdom | Two brothers with A3243G: recurrent strokes/migraine/diabetes/complex I deficiency in one and mild exercise intolerance with abnormal in vivo mitochondrial ATP production in the other | 0 | 1 | 2000 | [10716261](https://pubmed.ncbi.nlm.nih.gov/10716261/) | / |
| 305 | 3243 | m.3243A\>G | [A3243G\-F305 ](https://mitofam.com/doc/1091)| France | FSGS/renal disease with maternally inherited A3243G; diabetes/deafness | 3 | 2 | 2000 | [11044204](https://pubmed.ncbi.nlm.nih.gov/11044204/) | Family A pedigree; G/H derived figure\-first, not from carrier\-row count alone. |
| 306 | 3243 | m.3243A\>G | [A3243G\-F306](https://mitofam.com/doc/1092) | France | FSGS/renal disease with maternally inherited A3243G; diabetes/deafness | 0 | 2 | 2000 | [11044204](https://pubmed.ncbi.nlm.nih.gov/11044204/) | Family B pedigree; inferred mother counted for G/H only. |
| 307 | 3243 | m.3243A\>G | A3243G\-F307 | France | FSGS associated with mitochondrial cytopathy; diabetes, cerebellar syndrome, hearing loss | 0 | 0 | 2000 | [11044204](https://pubmed.ncbi.nlm.nih.gov/11044204/) | Family C/Case 4; family history unavailable. |
| 308 | 3243 | m.3243A\>G | A3243G\-F308 | United Kingdom | MELAS | 0 | 0 | 2001 | [11085913](https://pubmed.ncbi.nlm.nih.gov/11085913/) | Subject 1; no family relationship reported. |
| 309 | 3243 | m.3243A\>G | A3243G\-F309 | United Kingdom | MELAS | 0 | 0 | 2001 | [11085913](https://pubmed.ncbi.nlm.nih.gov/11085913/) | Subject 2; no family relationship reported. |
| 310 | 3243 | m.3243A\>G | A3243G\-F310 | United Kingdom | MELAS | 0 | 0 | 2001 | [11085913](https://pubmed.ncbi.nlm.nih.gov/11085913/) | Subject 3; no family relationship reported. |
| 311 | 3243 | m.3243A\>G | A3243G\-F311 | United Kingdom | MELAS | 0 | 0 | 2001 | [11085913](https://pubmed.ncbi.nlm.nih.gov/11085913/) | Subject 4; no family relationship reported. |
| 312 | 3243 | m.3243A\>G | A3243G\-F312 | United Kingdom | MELAS | 0 | 0 | 2001 | [11085913](https://pubmed.ncbi.nlm.nih.gov/11085913/) | Subject 5; no family relationship reported. |
| 313 | 3243 | m.3243A\>G | A3243G\-F313 | United Kingdom | MELAS | 0 | 0 | 2001 | [11085913](https://pubmed.ncbi.nlm.nih.gov/11085913/) | Subject 6; no family relationship reported. |
| 314 | 3243 | m.3243A\>G |[ A3243G\-F314](https://mitofam.com/doc/1093) | Argentina | Barth syndrome\-like mitochondrial disease with maternally inherited A3243G; MELAS spectrum | 5 | 1 | 2001 | [11241464](https://pubmed.ncbi.nlm.nih.gov/11241464/) | / |
| 315 | 3243 | m.3243A\>G |[ A3243G\-F315](https://mitofam.com/doc/1094) | Japan | FSGS/proteinuria with A3243G | 2 | 1 | 2001 | [11260383](https://pubmed.ncbi.nlm.nih.gov/11260383/) | Family 1 in Fig.2; mother is urine\-positive despite blood 0%. |
| 316 | 3243 | m.3243A\>G | [A3243G\-F316](https://mitofam.com/doc/1095) | Japan | FSGS/proteinuria with A3243G | 2 | 1 | 2001 | [11260383](https://pubmed.ncbi.nlm.nih.gov/11260383/) | Family 2 in Fig.2; includes the B/U\=0 daughter as an eligible negative\-tested maternal\-line descendant. |
| 317 | 3243 | m.3243A\>G | A3243G\-F317 | Japan | FSGS/proteinuria with A3243G | 0 | 0 | 2001 | [11260383](https://pubmed.ncbi.nlm.nih.gov/11260383/) | Family 3 in Fig.2; clinical\-only relatives are excluded. |
| 318 | 3243 | m.3243A\>G | [A3243G\-F318](https://mitofam.com/doc/1096) | Japan | Aged mitochondrial disease/MIDD with cardiomyopathy and A3243G | 0 | 4 | 2001 | [11393411](https://pubmed.ncbi.nlm.nih.gov/11393411/) | Original family case report; three untested affected daughters entered under target\-positive mother rule; female grandchild counted only for G/H. |
| 319 | 3243 | m.3243A\>G | A3243G\-F319 | United Kingdom | MELAS/MIDD spectrum with profound hearing loss and A3243G | 0 | 2 | 2001 | [11488279](https://pubmed.ncbi.nlm.nih.gov/11488279/) | Original case report; proband has confirmed A3243G. Mother and sister have reported clinical features but no molecular testing, so they are G/H\-only relatives. |
| 320 | 3243 | m.3243A\>G | [A3243G\-F320](https://mitofam.com/doc/1097) | United States | MELAS/mtDNA disease with maternal family history | 2 | 5 | 2001 | [11700163](https://pubmed.ncbi.nlm.nih.gov/11700163/) | Figure pedigree; only the proband and two shaded siblings are carrier rows. Other counted relatives are G/H\-only. |
| 321 | 3243 | m.3243A\>G | [A3243G\-F321 ](https://mitofam.com/doc/1098)| Germany | Variable A3243G phenotypes with hearing impairment | 0 | 1 | 2001 | [11708999](https://pubmed.ncbi.nlm.nih.gov/11708999/) | 1a is the son of 1b; both are A3243G\-positive symptomatic patients. |
| 322 | 3243 | m.3243A\>G | [A3243G\-F322](https://mitofam.com/doc/1099) | Germany | Variable A3243G phenotypes with hearing impairment | 0 | 1 | 2001 | [11708999](https://pubmed.ncbi.nlm.nih.gov/11708999/) | 2b is the son of 2a; both are A3243G\-positive symptomatic patients. |
| 323 | 3243 | m.3243A\>G | A3243G\-F323 | Germany | Variable A3243G phenotypes with hearing impairment | 0 | 0 | 2001 | [11708999](https://pubmed.ncbi.nlm.nih.gov/11708999/) | Patient 3 singleton index patient; no molecularly mapped relatives. |
| 324 | 3243 | m.3243A\>G | A3243G\-F324 | Germany | Variable A3243G phenotypes with hearing impairment | 0 | 0 | 2001 | [11708999](https://pubmed.ncbi.nlm.nih.gov/11708999/) | Patient 4 singleton index patient; no molecularly mapped relatives. |
| 325 | 3243 | m.3243A\>G | [A3243G\-F325](https://mitofam.com/doc/1100) | Germany | Variable A3243G phenotypes with hearing impairment | 0 | 1 | 2001 | [11708999](https://pubmed.ncbi.nlm.nih.gov/11708999/) | 5a is the daughter of 5b; both are A3243G\-positive symptomatic patients. |
| 326 | 3243 | m.3243A\>G | A3243G\-F326 | Germany | Variable A3243G phenotypes with hearing impairment | 0 | 0 | 2001 | [11708999](https://pubmed.ncbi.nlm.nih.gov/11708999/) | Patient 6 singleton index patient; no molecularly mapped relatives. |
| 327 | 3243 | m.3243A\>G | [A3243G\-F327](https://mitofam.com/doc/1101) | Germany | Variable A3243G phenotypes with hearing impairment | 0 | 1 | 2001 | [11708999](https://pubmed.ncbi.nlm.nih.gov/11708999/) | 7a is the daughter of 7b; both are A3243G\-positive symptomatic patients. |
| 328 | 3243 | m.3243A\>G | A3243G\-F328 | Germany | Variable A3243G phenotypes with hearing impairment | 0 | 0 | 2001 | [11708999](https://pubmed.ncbi.nlm.nih.gov/11708999/) | Patient 8 singleton index patient; no molecularly mapped relatives. |
| 329 | 3243 | m.3243A\>G | [A3243G\-F329 ](https://mitofam.com/doc/1102)| Germany | Variable A3243G phenotypes with hearing impairment | 0 | 2 | 2001 | [11708999](https://pubmed.ncbi.nlm.nih.gov/11708999/) | 9a, 9b, and 9c are siblings; mother\-level eligibility is inferred only from multiple positive children. |
| 330 | 3243 | m.3243A\>G | A3243G\-F330 | Germany | Variable A3243G phenotypes with hearing impairment | 0 | 0 | 2001 | [11708999](https://pubmed.ncbi.nlm.nih.gov/11708999/) | Patient 10 singleton index patient; no molecularly mapped relatives. |
| 331 | 3243 | m.3243A\>G | A3243G\-F331 | Japan | MELAS | 0 | 0 | 2002 | [11889254](https://pubmed.ncbi.nlm.nih.gov/11889254/) | G/H count basis documented in report. |
| 332 | 3243 | m.3243A\>G | A3243G\-F332 | Japan | MELAS | 0 | 0 | 2002 | [11889254](https://pubmed.ncbi.nlm.nih.gov/11889254/) | G/H count basis documented in report. |
| 333 | 3243 | m.3243A\>G | A3243G\-F333 | Japan | MELAS | 0 | 0 | 2002 | [11889254](https://pubmed.ncbi.nlm.nih.gov/11889254/) | G/H count basis documented in report. |
| 334 | 3243 | m.3243A\>G | [A3243G\-F334](https://mitofam.com/doc/1103) | United Kingdom | MIDD with progressive sensorineural hearing loss; MELAS\-spectrum affected sibling | 0 | 2 | 2002 | [12080997](https://pubmed.ncbi.nlm.nih.gov/12080997/) | No pedigree figure; auditory figures only. Tissue and heteroplasmy load are not reported. |
| 335 | 3243 | m.3243A\>G | [A3243G\-F335](https://mitofam.com/doc/1104) | Japan | Familial focal segmental glomerulosclerosis; sensorineural hearing loss | 0 | 1 | 2002 | [12089377](https://pubmed.ncbi.nlm.nih.gov/12089377/) | Male familial FGS family with molecularly positive mother. |
| 336 | 3243 | m.3243A\>G | A3243G\-F336 | Japan | Familial focal segmental glomerulosclerosis; sensorineural hearing loss; family history of ESRD | 0 | 2 | 2002 | [12089377](https://pubmed.ncbi.nlm.nih.gov/12089377/) | Female familial FGS family; mother and sister are G/H count\-only. |
| 337 | 3243 | m.3243A\>G | [A3243G\-F337 ](https://mitofam.com/doc/1105)| Japan | Diabetes mellitus with sensorineural hearing loss; MIDD spectrum | 0 | 1 | 2002 | [12207817](https://pubmed.ncbi.nlm.nih.gov/12207817/) | No pedigree figure; family history is textual only. |
| 338 | 3243 | m.3243A\>G | A3243G\-F338 | Japan | Leigh syndrome | 0 | 0 | 2003 | [12609508](https://pubmed.ncbi.nlm.nih.gov/12609508/) | Patient 1 singleton A3243G subject; no pedigree or maternal relative relation reported. |
| 339 | 3243 | m.3243A\>G | A3243G\-F339 | Japan | MELAS | 0 | 0 | 2003 | [12609508](https://pubmed.ncbi.nlm.nih.gov/12609508/) | Patient 2 singleton A3243G subject; no pedigree or maternal relative relation reported. |
| 340 | 3243 | m.3243A\>G | A3243G\-F340 | Japan | MELAS | 0 | 0 | 2003 | [12609508](https://pubmed.ncbi.nlm.nih.gov/12609508/) | Patient 3 singleton A3243G subject; no pedigree or maternal relative relation reported. |
| 341 | 3243 | m.3243A\>G | A3243G\-F341 | Japan | PEO | 0 | 0 | 2003 | [12609508](https://pubmed.ncbi.nlm.nih.gov/12609508/) | Patient 4 singleton A3243G subject; no pedigree or maternal relative relation reported. |
| 342 | 3243 | m.3243A\>G | A3243G\-F342 | France | Adult renal disease associated with A3243G | 0 | 0 | 2003 | [12874464](https://pubmed.ncbi.nlm.nih.gov/12874464/) | Case 1 sporadic case; family row exists only because one carrier row is supported. |
| 343 | 3243 | m.3243A\>G | A3243G\-F343 | France | Adult renal disease associated with A3243G | 0 | 1 | 2003 | [12874464](https://pubmed.ncbi.nlm.nih.gov/12874464/) | Familial case based on affected sister; sister is not a carrier row because molecular A3243G testing is not reported. |
| 344 | 3243 | m.3243A\>G | [A3243G\-F344](https://mitofam.com/doc/1106) | France | Adult renal disease associated with A3243G | 0 | 1 | 2003 | [12874464](https://pubmed.ncbi.nlm.nih.gov/12874464/) | Cases 3 and 4 are siblings and both have subject\-level A3243G evidence. |
| 345 | 3243 | m.3243A\>G | [A3243G\-F345](https://mitofam.com/doc/1107) | France | Adult renal disease associated with A3243G | 0 | 3 | 2003 | [12874464](https://pubmed.ncbi.nlm.nih.gov/12874464/) | Cases 5 and 6 are siblings; mother and maternal uncle are clinical\-only G/H relatives. |
| 346 | 3243 | m.3243A\>G | A3243G\-F346 | France | Adult renal disease associated with A3243G | 0 | 0 | 2003 | [12874464](https://pubmed.ncbi.nlm.nih.gov/12874464/) | Case 7 sporadic case; family row exists only because one carrier row is supported. |
| 347 | 3243 | m.3243A\>G | [A3243G\-F347](https://mitofam.com/doc/1108) | France | Adult renal disease associated with A3243G | 0 | 3 | 2003 | [12874464](https://pubmed.ncbi.nlm.nih.gov/12874464/) | Cases 8 and 9 are siblings; daughter of Case 9 is added under the updated child\-of\-target\-positive\-mother rule. |
| 348 | 3243 | m.3243A\>G | A3243G\-F348 | Korea | MELAS with rhabdomyolysis | 0 | 0 | 2003 | [12944725](https://pubmed.ncbi.nlm.nih.gov/12944725/) | Original singleton case report; no countable maternal relatives or family molecular testing reported. |
| 349 | 3243 | m.3243A\>G | A3243G\-F349 | Taiwan | MELAS with diabetes mellitus and double mtDNA mutations A3243G/A14693G | 0 | 0 | 2003 | [14571459](https://pubmed.ncbi.nlm.nih.gov/14571459/) | Original case report; proband muscle has heteroplasmic A3243G. Mother and siblings were blood\-negative for A3243G, and the paper interprets A3243G as sporadic. |
| 350 | 3243 | m.3243A\>G | [A3243G\-F350](https://mitofam.com/doc/1109) | USA | Autistic spectrum disorder/PDD with maternal A3243G evidence | 0 | 4 | 2004 | [14722523](https://pubmed.ncbi.nlm.nih.gov/14722523/) | / |
| 351 | 3243 | m.3243A\>G | [A3243G\-F351](https://mitofam.com/doc/1110) | USA | Autistic spectrum disorder/Asperger syndrome with maternal A3243G evidence | 0 | 1 | 2004 | [14722523](https://pubmed.ncbi.nlm.nih.gov/14722523/) | / |
| 352 | 3243 | m.3243A\>G | [A3243G\-F352 ](https://mitofam.com/doc/1111)| USA | Infantile encephalopathy/autistic spectrum disorder with maternal A3243G evidence | 0 | 0 | 2004 | [14722523](https://pubmed.ncbi.nlm.nih.gov/14722523/) | Patients 3 and 4 are brothers. |
| 353 | 3243 | m.3243A\>G | A3243G\-F353 | Italy | Sporadic cerebellar ataxia; mitochondrial myopathy | 0 | 0 | 2004 | [15032978](https://pubmed.ncbi.nlm.nih.gov/15032978/) | Original singleton case; no maternal relatives were studied. |
| 354 | 3243 | m.3243A\>G | A3243G\-F354 | Finland | 3243A\>G mitochondrial disease cohort; muscle CT pattern study | 0 | 0 | 2004 | [15164188](https://pubmed.ncbi.nlm.nih.gov/15164188/) | Patient 1; cohort singleton because the paper does not map subjects to the 11 source pedigrees. |
| 355 | 3243 | m.3243A\>G | A3243G\-F355 | Finland | 3243A\>G mitochondrial disease cohort; muscle CT pattern study | 0 | 0 | 2004 | [15164188](https://pubmed.ncbi.nlm.nih.gov/15164188/) | Patient 2; cohort singleton because the paper does not map subjects to the 11 source pedigrees. |
| 356 | 3243 | m.3243A\>G | A3243G\-F356 | Finland | 3243A\>G mitochondrial disease cohort; muscle CT pattern study | 0 | 0 | 2004 | [15164188](https://pubmed.ncbi.nlm.nih.gov/15164188/) | Patient 3; cohort singleton because the paper does not map subjects to the 11 source pedigrees. |
| 357 | 3243 | m.3243A\>G | A3243G\-F357 | Finland | 3243A\>G mitochondrial disease cohort; muscle CT pattern study | 0 | 0 | 2004 | [15164188](https://pubmed.ncbi.nlm.nih.gov/15164188/) | Patient 4; cohort singleton because the paper does not map subjects to the 11 source pedigrees. |
| 358 | 3243 | m.3243A\>G | A3243G\-F358 | Finland | 3243A\>G mitochondrial disease cohort; muscle CT pattern study | 0 | 0 | 2004 | [15164188](https://pubmed.ncbi.nlm.nih.gov/15164188/) | Patient 5; cohort singleton because the paper does not map subjects to the 11 source pedigrees. |
| 359 | 3243 | m.3243A\>G | A3243G\-F359 | Finland | 3243A\>G mitochondrial disease cohort; muscle CT pattern study | 0 | 0 | 2004 | [15164188](https://pubmed.ncbi.nlm.nih.gov/15164188/) | Patient 6; cohort singleton because the paper does not map subjects to the 11 source pedigrees. |
| 360 | 3243 | m.3243A\>G | A3243G\-F360 | Finland | 3243A\>G mitochondrial disease cohort; muscle CT pattern study | 0 | 0 | 2004 | [15164188](https://pubmed.ncbi.nlm.nih.gov/15164188/) | Patient 7; cohort singleton because the paper does not map subjects to the 11 source pedigrees. |
| 361 | 3243 | m.3243A\>G | A3243G\-F361 | Finland | 3243A\>G mitochondrial disease cohort; muscle CT pattern study | 0 | 0 | 2004 | [15164188](https://pubmed.ncbi.nlm.nih.gov/15164188/) | Patient 8; cohort singleton because the paper does not map subjects to the 11 source pedigrees. |
| 362 | 3243 | m.3243A\>G | A3243G\-F362 | Finland | 3243A\>G mitochondrial disease cohort; muscle CT pattern study | 0 | 0 | 2004 | [15164188](https://pubmed.ncbi.nlm.nih.gov/15164188/) | Patient 9; cohort singleton because the paper does not map subjects to the 11 source pedigrees. |
| 363 | 3243 | m.3243A\>G | A3243G\-F363 | Finland | 3243A\>G mitochondrial disease cohort; muscle CT pattern study | 0 | 0 | 2004 | [15164188](https://pubmed.ncbi.nlm.nih.gov/15164188/) | Patient 10; cohort singleton because the paper does not map subjects to the 11 source pedigrees. |
| 364 | 3243 | m.3243A\>G | A3243G\-F364 | Finland | 3243A\>G mitochondrial disease cohort; muscle CT pattern study | 0 | 0 | 2004 | [15164188](https://pubmed.ncbi.nlm.nih.gov/15164188/) | Patient 11; cohort singleton because the paper does not map subjects to the 11 source pedigrees. |
| 365 | 3243 | m.3243A\>G | A3243G\-F365 | Finland | 3243A\>G mitochondrial disease cohort; muscle CT pattern study | 0 | 0 | 2004 | [15164188](https://pubmed.ncbi.nlm.nih.gov/15164188/) | Patient 12; cohort singleton because the paper does not map subjects to the 11 source pedigrees. |
| 366 | 3243 | m.3243A\>G | A3243G\-F366 | Finland | 3243A\>G mitochondrial disease cohort; muscle CT pattern study | 0 | 0 | 2004 | [15164188](https://pubmed.ncbi.nlm.nih.gov/15164188/) | Patient 13; cohort singleton because the paper does not map subjects to the 11 source pedigrees. |
| 367 | 3243 | m.3243A\>G | A3243G\-F367 | Finland | 3243A\>G mitochondrial disease cohort; muscle CT pattern study | 0 | 0 | 2004 | [15164188](https://pubmed.ncbi.nlm.nih.gov/15164188/) | Patient 14; cohort singleton because the paper does not map subjects to the 11 source pedigrees. |
| 368 | 3243 | m.3243A\>G | A3243G\-F368 | Finland | 3243A\>G mitochondrial disease cohort; muscle CT pattern study | 0 | 0 | 2004 | [15164188](https://pubmed.ncbi.nlm.nih.gov/15164188/) | Patient 15; cohort singleton because the paper does not map subjects to the 11 source pedigrees. |
| 369 | 3243 | m.3243A\>G | A3243G\-F369 | Finland | 3243A\>G mitochondrial disease cohort; muscle CT pattern study | 0 | 0 | 2004 | [15164188](https://pubmed.ncbi.nlm.nih.gov/15164188/) | Patient 16; cohort singleton because the paper does not map subjects to the 11 source pedigrees. |
| 370 | 3243 | m.3243A\>G | A3243G\-F370 | Finland | 3243A\>G mitochondrial disease cohort; muscle CT pattern study | 0 | 0 | 2004 | [15164188](https://pubmed.ncbi.nlm.nih.gov/15164188/) | Patient 17; cohort singleton because the paper does not map subjects to the 11 source pedigrees. |
| 371 | 3243 | m.3243A\>G | A3243G\-F371 | Finland | 3243A\>G mitochondrial disease cohort; muscle CT pattern study | 0 | 0 | 2004 | [15164188](https://pubmed.ncbi.nlm.nih.gov/15164188/) | Patient 18; cohort singleton because the paper does not map subjects to the 11 source pedigrees. |
| 372 | 3243 | m.3243A\>G | A3243G\-F372 | Finland | 3243A\>G mitochondrial disease cohort; muscle CT pattern study | 0 | 0 | 2004 | [15164188](https://pubmed.ncbi.nlm.nih.gov/15164188/) | Patient 19; cohort singleton because the paper does not map subjects to the 11 source pedigrees. |
| 373 | 3243 | m.3243A\>G | A3243G\-F373 | Finland | 3243A\>G mitochondrial disease cohort; muscle CT pattern study | 0 | 0 | 2004 | [15164188](https://pubmed.ncbi.nlm.nih.gov/15164188/) | Patient 20; cohort singleton because the paper does not map subjects to the 11 source pedigrees. |
| 374 | 3243 | m.3243A\>G | A3243G\-F374 | Finland | 3243A\>G mitochondrial disease cohort; muscle CT pattern study | 0 | 0 | 2004 | [15164188](https://pubmed.ncbi.nlm.nih.gov/15164188/) | Patient 21; cohort singleton because the paper does not map subjects to the 11 source pedigrees. |
| 375 | 3243 | m.3243A\>G | A3243G\-F375 | Finland | 3243A\>G mitochondrial disease cohort; muscle CT pattern study | 0 | 0 | 2004 | [15164188](https://pubmed.ncbi.nlm.nih.gov/15164188/) | Patient 22; cohort singleton because the paper does not map subjects to the 11 source pedigrees. |
| 376 | 3243 | m.3243A\>G | A3243G\-F376 | Finland | 3243A\>G mitochondrial disease cohort; muscle CT pattern study | 0 | 0 | 2004 | [15164188](https://pubmed.ncbi.nlm.nih.gov/15164188/) | Patient 23; cohort singleton because the paper does not map subjects to the 11 source pedigrees. |
| 377 | 3243 | m.3243A\>G | A3243G\-F377 | Finland | 3243A\>G mitochondrial disease cohort; muscle CT pattern study | 0 | 0 | 2004 | [15164188](https://pubmed.ncbi.nlm.nih.gov/15164188/) | Patient 24; cohort singleton because the paper does not map subjects to the 11 source pedigrees. |
| 378 | 3243 | m.3243A\>G | A3243G\-F378 | Italy | Non\-syndromic sensorineural hearing loss | 0 | 0 | 2004 | [15180810](https://pubmed.ncbi.nlm.nih.gov/15180810/) | No pedigree or family molecular data; singleton case. |
| 379 | 3243 | m.3243A\>G | [A3243G\-F379](https://mitofam.com/doc/1112/) | Finland | MIDD/MODY cosegregation in a Finnish pedigree | 5 | 8 | 2004 | [15220216](https://pubmed.ncbi.nlm.nih.gov/15220216/) | Fig. 1 pedigree plus Table 1; includes I:2 as an eligible negative\-tested branch stop. |
| 380 | 3243 | m.3243A\>G | [A3243G\-F380](https://mitofam.com/doc/1113/) | United Kingdom | A3243G cardiac energetics cohort; family A MELAS phenotype | 3 | 0 | 2004 | [15238271](https://pubmed.ncbi.nlm.nih.gov/15238271/) | Family letter from Table 1/Fig. 2; no pedigree figure. |
| 381 | 3243 | m.3243A\>G | [A3243G\-F381](https://mitofam.com/doc/1114/) | United Kingdom | A3243G cardiac energetics cohort; family B diabetes and deafness phenotype | 0 | 1 | 2004 | [15238271](https://pubmed.ncbi.nlm.nih.gov/15238271/) | Family letter from Table 1/Fig. 2; no pedigree figure. |
| 382 | 3243 | m.3243A\>G | A3243G\-F382 | United Kingdom | A3243G cardiac energetics cohort; family C MELAS phenotype | 0 | 0 | 2004 | [15238271](https://pubmed.ncbi.nlm.nih.gov/15238271/) | Family letter from Table 1/Fig. 2; no pedigree figure. |
| 383 | 3243 | m.3243A\>G | A3243G\-F383 | United Kingdom | A3243G cardiac energetics cohort; family D MELAS/diabetes phenotype | 0 | 0 | 2004 | [15238271](https://pubmed.ncbi.nlm.nih.gov/15238271/) | Family letter from Table 1/Fig. 2; no pedigree figure. |
| 384 | 3243 | m.3243A\>G | [A3243G\-F384](https://mitofam.com/doc/1115/) | Finland | Childhood mitochondrial encephalomyopathy with A3243G; maternal gestational diabetes and hearing loss | 3 | 2 | 2004 | [15286228](https://pubmed.ncbi.nlm.nih.gov/15286228/) | Patient 3 family; healthy siblings included under target\-positive mother phenotype rule. |
| 385 | 3243 | m.3243A\>G | [A3243G\-F385](https://mitofam.com/doc/1116/) | USA | MELAS; oligosymptomatic/asymptomatic maternal relatives with accessible\-tissue A3243G testing | 2 | 1 | 2004 | [15372523](https://pubmed.ncbi.nlm.nih.gov/15372523/) | Only Fig. 3 family is individually mappable; aggregate 22\-family tissue\-distribution data are not expanded. |
| 386 | 3243 | m.3243A\>G | A3243G\-F386 | Croatia | Type 2 diabetes with maternal diabetic history; BM A3243G positive | 0 | 0 | 2004 | [15660201](https://pubmed.ncbi.nlm.nih.gov/15660201/) | No pedigree figure or tested relatives reported. |
| 387 | 3243 | m.3243A\>G | A3243G\-F387 | Croatia | Type 2 diabetes with maternal diabetic history, hearing/visual impairment and neuropathy | 0 | 0 | 2004 | [15660201](https://pubmed.ncbi.nlm.nih.gov/15660201/) | No pedigree figure or tested relatives reported. |
| 388 | 3243 | m.3243A\>G | [A3243G\-F388](https://mitofam.com/doc/1117/) | Netherlands | Steroid\-resistant nephrotic syndrome/FSGS; diabetes mellitus in sister; A3243G\-positive maternal relatives | 2 | 1 | 2005 | [15585516](https://pubmed.ncbi.nlm.nih.gov/15585516/) | Fig. 3 family tree. |
| 389 | 3243 | m.3243A\>G | A3243G\-F389 | Japan | Bipolar disorder | 0 | 0 | 2005 | [15737668](https://pubmed.ncbi.nlm.nih.gov/15737668/) | Table 3 bipolar disorder case, age 30\. |
| 390 | 3243 | m.3243A\>G | A3243G\-F390 | Japan | Bipolar disorder | 0 | 0 | 2005 | [15737668](https://pubmed.ncbi.nlm.nih.gov/15737668/) | Table 3 bipolar disorder case, age 31\. |
| 391 | 3243 | m.3243A\>G | A3243G\-F391 | Japan | Schizophrenia | 0 | 0 | 2005 | [15737668](https://pubmed.ncbi.nlm.nih.gov/15737668/) | Table 3 schizophrenia case, age 56\. |
| 392 | 3243 | m.3243A\>G | A3243G\-F392 | Japan | MELAS | 0 | 0 | 2005 | [15752543](https://pubmed.ncbi.nlm.nih.gov/15752543/) | P1; no pedigree or mapped relative. |
| 393 | 3243 | m.3243A\>G | A3243G\-F393 | Japan | MELAS | 0 | 0 | 2005 | [15752543](https://pubmed.ncbi.nlm.nih.gov/15752543/) | P2; no pedigree or mapped relative. |
| 394 | 3243 | m.3243A\>G | A3243G\-F394 | Japan | MELAS | 0 | 0 | 2005 | [15752543](https://pubmed.ncbi.nlm.nih.gov/15752543/) | P3; no pedigree or mapped relative. |
| 395 | 3243 | m.3243A\>G | A3243G\-F395 | Japan | MELAS | 0 | 0 | 2005 | [15752543](https://pubmed.ncbi.nlm.nih.gov/15752543/) | P4; family\-history plus does not create Fam type or nonzero G/H. |
| 396 | 3243 | m.3243A\>G | A3243G\-F396 | Japan | MELAS | 0 | 0 | 2005 | [15752543](https://pubmed.ncbi.nlm.nih.gov/15752543/) | P5; family\-history plus does not create Fam type or nonzero G/H. |
| 397 | 3243 | m.3243A\>G | A3243G\-F397 | Japan | MELAS | 0 | 0 | 2005 | [15752543](https://pubmed.ncbi.nlm.nih.gov/15752543/) | P6; family\-history plus does not create Fam type or nonzero G/H. |
| 398 | 3243 | m.3243A\>G |[ A3243G\-F398](https://mitofam.com/doc/1118/) | Japan | MELAS with exercise fatigue, progressive muscle weakness and stroke\-like episode | 0 | 0 | 2005 | [16290150](https://pubmed.ncbi.nlm.nih.gov/16290150/) | Patient and mother reported A3243G\-positive; tissue/load not reported. |
| 399 | 3243 | m.3243A\>G | A3243G\-F399 | Japan | Leigh syndrome | 0 | 0 | 2006 | [16337222](https://pubmed.ncbi.nlm.nih.gov/16337222/) | Patient 1 singleton A3243G\-positive Leigh syndrome case; family history negative. |
| 400 | 3243 | m.3243A\>G | A3243G\-F400 | Japan | Leigh disease | 0 | 0 | 2006 | [16337222](https://pubmed.ncbi.nlm.nih.gov/16337222/) | Patient 2 singleton A3243G\-positive Leigh disease case; family history negative. |
| 401 | 3243 | m.3243A\>G | A3243G\-F401 | Japan | MELAS with dementia | 0 | 0 | 2006 | [16337222](https://pubmed.ncbi.nlm.nih.gov/16337222/) | Patient 5 singleton A3243G\-positive MELAS case; family history positive but no relative is molecularly mapped. |
| 402 | 3243 | m.3243A\>G | A3243G\-F402 | Japan | MELAS | 0 | 0 | 2006 | [16337222](https://pubmed.ncbi.nlm.nih.gov/16337222/) | Patient 6 singleton A3243G\-positive MELAS case; family history positive but no relative is molecularly mapped. |
| 403 | 3243 | m.3243A\>G | A3243G\-F403 | Japan | MELAS | 0 | 0 | 2006 | [16337222](https://pubmed.ncbi.nlm.nih.gov/16337222/) | Patient 7 singleton A3243G\-positive MELAS case; family history positive but no relative is molecularly mapped. |
| 404 | 3243 | m.3243A\>G | A3243G\-F404 | Japan | MELAS | 0 | 0 | 2006 | [16337222](https://pubmed.ncbi.nlm.nih.gov/16337222/) | Patient 8 singleton A3243G\-positive MELAS case; family history positive but no relative is molecularly mapped. |
| 405 | 3243 | m.3243A\>G | A3243G\-F405 | Japan | MELAS with diabetes mellitus | 0 | 0 | 2006 | [16337222](https://pubmed.ncbi.nlm.nih.gov/16337222/) | Patient 9 singleton A3243G\-positive MELAS\+DM case; family history negative. |
| 406 | 3243 | m.3243A\>G | A3243G\-F406 | Japan | MELA | 0 | 0 | 2006 | [16337222](https://pubmed.ncbi.nlm.nih.gov/16337222/) | Patient 10 singleton A3243G\-positive MELA case; family history positive but no relative is molecularly mapped. |
| 407 | 3243 | m.3243A\>G | [A3243G\-F407 ](https://mitofam.com/doc/1119/)| China (Han Chinese) | Maternally transmitted diabetes mellitus / MIDD | 2 | 5 | 2006 | [16876129](https://pubmed.ncbi.nlm.nih.gov/16876129/) | Fig. 1 four\-generation pedigree; Table 1 subject\-label caveat. |
| 408 | 3243 | m.3243A\>G | A3243G\-F408 | Netherlands | Adult m.3243A\>G cardiac involvement cohort | 0 | 0 | 2007 | [17223431](https://pubmed.ncbi.nlm.nih.gov/17223431/) | Patient 1; no pedigree or family relationship reported. |
| 409 | 3243 | m.3243A\>G | A3243G\-F409 | Netherlands | Adult m.3243A\>G cardiac involvement cohort | 0 | 0 | 2007 | [17223431](https://pubmed.ncbi.nlm.nih.gov/17223431/) | Patient 2; no pedigree or family relationship reported. |
| 410 | 3243 | m.3243A\>G | A3243G\-F410 | Netherlands | Adult m.3243A\>G cardiac involvement cohort | 0 | 0 | 2007 | [17223431](https://pubmed.ncbi.nlm.nih.gov/17223431/) | Patient 3; no pedigree or family relationship reported. |
| 411 | 3243 | m.3243A\>G | A3243G\-F411 | Netherlands | Adult m.3243A\>G cardiac involvement cohort | 0 | 0 | 2007 | [17223431](https://pubmed.ncbi.nlm.nih.gov/17223431/) | Patient 4; no pedigree or family relationship reported. |
| 412 | 3243 | m.3243A\>G | A3243G\-F412 | Netherlands | Adult m.3243A\>G cardiac involvement cohort | 0 | 0 | 2007 | [17223431](https://pubmed.ncbi.nlm.nih.gov/17223431/) | Patient 5; no pedigree or family relationship reported. |
| 413 | 3243 | m.3243A\>G | A3243G\-F413 | Netherlands | Adult m.3243A\>G cardiac involvement cohort | 0 | 0 | 2007 | [17223431](https://pubmed.ncbi.nlm.nih.gov/17223431/) | Patient 6; no pedigree or family relationship reported. |
| 414 | 3243 | m.3243A\>G | A3243G\-F414 | Netherlands | Adult m.3243A\>G cardiac involvement cohort | 0 | 0 | 2007 | [17223431](https://pubmed.ncbi.nlm.nih.gov/17223431/) | Patient 7; no pedigree or family relationship reported. |
| 415 | 3243 | m.3243A\>G | A3243G\-F415 | Netherlands | Adult m.3243A\>G cardiac involvement cohort | 0 | 0 | 2007 | [17223431](https://pubmed.ncbi.nlm.nih.gov/17223431/) | Patient 8; no pedigree or family relationship reported. |
| 416 | 3243 | m.3243A\>G | A3243G\-F416 | Netherlands | Adult m.3243A\>G cardiac involvement cohort | 0 | 0 | 2007 | [17223431](https://pubmed.ncbi.nlm.nih.gov/17223431/) | Patient 9; no pedigree or family relationship reported. |
| 417 | 3243 | m.3243A\>G | A3243G\-F417 | Netherlands | Adult m.3243A\>G cardiac involvement cohort | 0 | 0 | 2007 | [17223431](https://pubmed.ncbi.nlm.nih.gov/17223431/) | Patient 10; no pedigree or family relationship reported. |
| 418 | 3243 | m.3243A\>G | A3243G\-F418 | Netherlands | Adult m.3243A\>G cardiac involvement cohort | 0 | 0 | 2007 | [17223431](https://pubmed.ncbi.nlm.nih.gov/17223431/) | Patient 11; no pedigree or family relationship reported. |
| 419 | 3243 | m.3243A\>G | A3243G\-F419 | Netherlands | Adult m.3243A\>G cardiac involvement cohort | 0 | 0 | 2007 | [17223431](https://pubmed.ncbi.nlm.nih.gov/17223431/) | Patient 12; no pedigree or family relationship reported. |
| 420 | 3243 | m.3243A\>G | [A3243G\-F420](https://mitofam.com/doc/1120/) | France | Maternally inherited hearing impairment with A3243G | 1 | 3 | 2007 | [17637808](https://pubmed.ncbi.nlm.nih.gov/17637808/) | Family 9 from Figure 1/Figure 2; exact heteroplasmy percentages not printed. |
| 421 | 3243 | m.3243A\>G | A3243G\-F421 | Brazil | MELAS with stroke\-like episodes | 0 | 0 | 2007 | [17664998](https://pubmed.ncbi.nlm.nih.gov/17664998/) | Patient 1 singleton row. |
| 422 | 3243 | m.3243A\>G | A3243G\-F422 | Brazil | MELAS with stroke\-like episodes | 0 | 0 | 2007 | [17664998](https://pubmed.ncbi.nlm.nih.gov/17664998/) | Patient 2 singleton row. |
| 423 | 3243 | m.3243A\>G | [A3243G\-F423](https://mitofam.com/doc/1121/) | Brazil | MELAS with stroke\-like episodes | 3 | 0 | 2007 | [17664998](https://pubmed.ncbi.nlm.nih.gov/17664998/) | Fig.2 pedigree row for Patient 3 family. |
| 424 | 3243 | m.3243A\>G |[ A3243G\-F424](https://mitofam.com/doc/1122/) | Finland | Children/family members with A3243G mutation; phenotype per source table | 0 | 3 | 2007 | [17823937](https://pubmed.ncbi.nlm.nih.gov/17823937/) | Table 4 adult family members with 3243A\>G; family label Family A. |
| 425 | 3243 | m.3243A\>G | A3243G\-F425 | Finland | Children/family members with A3243G mutation; phenotype per source table | 0 | 0 | 2007 | [17823937](https://pubmed.ncbi.nlm.nih.gov/17823937/) | Table 4 adult family members with 3243A\>G; family label Family C. |
| 426 | 3243 | m.3243A\>G | [A3243G\-F426](https://mitofam.com/doc/1123/) | Finland | Children/family members with A3243G mutation; phenotype per source table | 0 | 1 | 2007 | [17823937](https://pubmed.ncbi.nlm.nih.gov/17823937/) | Table 4 adult family members with 3243A\>G; family label Family D. |
| 427 | 3243 | m.3243A\>G | [A3243G\-F427](https://mitofam.com/doc/1124/) | Finland | Children/family members with A3243G mutation; phenotype per source table | 0 | 1 | 2007 | [17823937](https://pubmed.ncbi.nlm.nih.gov/17823937/) | Table 4 adult family members with 3243A\>G; family label Family H. |
| 428 | 3243 | m.3243A\>G | [A3243G\-F428](https://mitofam.com/doc/1125/) | Finland | Children/family members with A3243G mutation; phenotype per source table | 0 | 2 | 2007 | [17823937](https://pubmed.ncbi.nlm.nih.gov/17823937/) | Table 4 adult family members with 3243A\>G; family label Family I. |
| 429 | 3243 | m.3243A\>G | A3243G\-F429 | Finland | Children/family members with A3243G mutation; phenotype per source table | 0 | 0 | 2007 | [17823937](https://pubmed.ncbi.nlm.nih.gov/17823937/) | Table 4 adult family members with 3243A\>G; family label Family J. |
| 430 | 3243 | m.3243A\>G | A3243G\-F430 | Finland | Children/family members with A3243G mutation; phenotype per source table | 0 | 0 | 2007 | [17823937](https://pubmed.ncbi.nlm.nih.gov/17823937/) | Table 4 adult family members with 3243A\>G; family label Family K. |
| 431 | 3243 | m.3243A\>G | A3243G\-F431 | Finland | Children/family members with A3243G mutation; phenotype per source table | 0 | 0 | 2007 | [17823937](https://pubmed.ncbi.nlm.nih.gov/17823937/) | Table 4 adult family members with 3243A\>G; family label Family L. |
| 432 | 3243 | m.3243A\>G |[ A3243G\-F432](https://mitofam.com/doc/1126/) | Finland | Children/family members with A3243G mutation; phenotype per source table | 0 | 1 | 2007 | [17823937](https://pubmed.ncbi.nlm.nih.gov/17823937/) | Table 4 adult family members with 3243A\>G; family label Family M. |
| 433 | 3243 | m.3243A\>G | A3243G\-F433 | Finland | Children/family members with A3243G mutation; phenotype per source table | 0 | 0 | 2007 | [17823937](https://pubmed.ncbi.nlm.nih.gov/17823937/) | Table 4 adult family members with 3243A\>G; family label Family N. |
| 434 | 3243 | m.3243A\>G | [A3243G\-F434](https://mitofam.com/doc/1127/) | Finland | Children/family members with A3243G mutation; phenotype per source table | 0 | 2 | 2007 | [17823937](https://pubmed.ncbi.nlm.nih.gov/17823937/) | Table 4 adult family members with 3243A\>G; family label Family O. |
| 435 | 3243 | m.3243A\>G | A3243G\-F435 | Finland | Children/family members with A3243G mutation; phenotype per source table | 0 | 0 | 2007 | [17823937](https://pubmed.ncbi.nlm.nih.gov/17823937/) | Table 4 adult family members with 3243A\>G; family label Family P. |
| 436 | 3243 | m.3243A\>G | A3243G\-F436 | United States | MELAS mimicking systemic vasculitis | 0 | 0 | 2007 | [18176143](https://pubmed.ncbi.nlm.nih.gov/18176143/) | Compare G\=4 is unsupported; relatives are clinical\-only/untested. |
| 437 | 3243 | m.3243A\>G | A3243G\-F437 | Japan | MELAS with stroke\-like episodes | 0 | 0 | 2008 | [17664050](https://pubmed.ncbi.nlm.nih.gov/17664050/) | Singleton A3243G\-positive MELAS patient; no eligible maternal relatives reported. |
| 438 | 3243 | m.3243A\>G | [A3243G\-F438 ](https://mitofam.com/doc/1128/)| Japan | MELAS with stroke\-like episodes | 0 | 1 | 2008 | [17664050](https://pubmed.ncbi.nlm.nih.gov/17664050/) | Patients 2 and 3 are siblings/brothers and both are A3243G\-positive affected MELAS patients. |
| 439 | 3243 | m.3243A\>G | A3243G\-F439 | Japan | MELAS with stroke\-like episodes | 0 | 0 | 2008 | [17664050](https://pubmed.ncbi.nlm.nih.gov/17664050/) | Singleton A3243G\-positive MELAS patient; no eligible maternal relatives reported. |
| 440 | 3243 | m.3243A\>G | A3243G\-F440 | Japan | MELAS with stroke\-like episodes | 0 | 0 | 2008 | [17664050](https://pubmed.ncbi.nlm.nih.gov/17664050/) | Singleton A3243G\-positive MELAS patient; no eligible maternal relatives reported. |
| 441 | 3243 | m.3243A\>G | [A3243G\-F441](https://mitofam.com/doc/1129/) | Japan | Mitochondrial cardiomyopathy; MELAS\-related multiple organ dysfunction syndrome | 0 | 2 | 2008 | [17689757](https://pubmed.ncbi.nlm.nih.gov/17689757/) | G/H count basis documented in report. |
| 442 | 3243 | m.3243A\>G | [A3243G\-F442](https://mitofam.com/doc/1130/) | Japan | Alport\-like renal disease/proteinuria; sensorineural hearing loss; diabetes | 0 | 3 | 2008 | [18180872](https://pubmed.ncbi.nlm.nih.gov/18180872/) | Mother and maternal grandmother are G/H\-only clinical maternal relatives; carrier rows are restricted to proband and elder sister with WBC A3243G positivity. |
| 443 | 3243 | m.3243A\>G | A3243G\-F443 | Sri Lanka | young adult\-onset diabetes / MIDD | 0 | 0 | 2008 | [18279408](https://pubmed.ncbi.nlm.nih.gov/18279408/) | Case 1; singleton cohort subject, no pedigree or count\-eligible maternal relatives reported. |
| 444 | 3243 | m.3243A\>G | A3243G\-F444 | Sri Lanka | young adult\-onset diabetes / MIDD | 0 | 0 | 2008 | [18279408](https://pubmed.ncbi.nlm.nih.gov/18279408/) | Case 2; singleton cohort subject, no pedigree or count\-eligible maternal relatives reported. |
| 445 | 3243 | m.3243A\>G | A3243G\-F445 | Sri Lanka | young adult\-onset diabetes / MIDD | 0 | 0 | 2008 | [18279408](https://pubmed.ncbi.nlm.nih.gov/18279408/) | Case 3; singleton cohort subject, no pedigree or count\-eligible maternal relatives reported. |
| 446 | 3243 | m.3243A\>G | A3243G\-F446 | Sri Lanka | young adult\-onset diabetes / MIDD | 0 | 0 | 2008 | [18279408](https://pubmed.ncbi.nlm.nih.gov/18279408/) | Case 4; singleton cohort subject, no pedigree or count\-eligible maternal relatives reported. |
| 447 | 3243 | m.3243A\>G | A3243G\-F447 | Sri Lanka | young adult\-onset diabetes / MIDD | 0 | 0 | 2008 | [18279408](https://pubmed.ncbi.nlm.nih.gov/18279408/) | Case 5; singleton cohort subject, no pedigree or count\-eligible maternal relatives reported. |
| 448 | 3243 | m.3243A\>G | A3243G\-F448 | Sri Lanka | young adult\-onset diabetes / MIDD | 0 | 0 | 2008 | [18279408](https://pubmed.ncbi.nlm.nih.gov/18279408/) | Case 6; singleton cohort subject, no pedigree or count\-eligible maternal relatives reported. |
| 449 | 3243 | m.3243A\>G | A3243G\-F449 | Sri Lanka | young adult\-onset diabetes / MIDD | 0 | 0 | 2008 | [18279408](https://pubmed.ncbi.nlm.nih.gov/18279408/) | Case 7; singleton cohort subject, no pedigree or count\-eligible maternal relatives reported. |
| 450 | 3243 | m.3243A\>G | A3243G\-F450 | Sri Lanka | young adult\-onset diabetes / MIDD | 0 | 0 | 2008 | [18279408](https://pubmed.ncbi.nlm.nih.gov/18279408/) | Case 8; singleton cohort subject, no pedigree or count\-eligible maternal relatives reported. |
| 451 | 3243 | m.3243A\>G | A3243G\-F451 | Sri Lanka | young adult\-onset diabetes / MIDD | 0 | 0 | 2008 | [18279408](https://pubmed.ncbi.nlm.nih.gov/18279408/) | Case 9; singleton cohort subject, no pedigree or count\-eligible maternal relatives reported. |
| 452 | 3243 | m.3243A\>G | A3243G\-F452 | Nigeria | MIDD with macular phenotype, cardiomyopathy and deafness | 0 | 0 | 2008 | [18290960](https://pubmed.ncbi.nlm.nih.gov/18290960/) | Maternal diabetes is clinical\-only and is not retained as H under the current rules. |
| 453 | 3243 | m.3243A\>G | [A3243G\-F453](https://mitofam.com/doc/1131/) | United Kingdom | Macular dystrophy associated with A3243G; hearing loss/diabetes in subsets | 2 | 0 | 2008 | [18332310](https://pubmed.ncbi.nlm.nih.gov/18332310/) | Figure 1 Family 1 and Table 2\. |
| 454 | 3243 | m.3243A\>G | [A3243G\-F454](https://mitofam.com/doc/1132/) | United Kingdom | Macular dystrophy associated with A3243G; hearing loss/diabetes in subsets | 0 | 11 | 2008 | [18332310](https://pubmed.ncbi.nlm.nih.gov/18332310/) | Figure 1 Family 2 and Table 2\. |
| 455 | 3243 | m.3243A\>G |[ A3243G\-F455](https://mitofam.com/doc/1133/) | United Kingdom | Macular dystrophy associated with A3243G; hearing loss/diabetes in subsets | 0 | 1 | 2008 | [18332310](https://pubmed.ncbi.nlm.nih.gov/18332310/) | Figure 1 Family 3 and Table 2\. |
| 456 | 3243 | m.3243A\>G | A3243G\-F456 | United Kingdom | Macular dystrophy associated with A3243G; hearing loss/diabetes in subsets | 0 | 0 | 2008 | [18332310](https://pubmed.ncbi.nlm.nih.gov/18332310/) | Figure 1 Family 4 and Table 2\. |
| 457 | 3243 | m.3243A\>G |[ A3243G\-F457](https://mitofam.com/doc/1134/) | United Kingdom | Macular dystrophy associated with A3243G; hearing loss/diabetes in subsets | 1 | 2 | 2008 | [18332310](https://pubmed.ncbi.nlm.nih.gov/18332310/) | Figure 1 Family 5 and Table 2\. |
| 458 | 3243 | m.3243A\>G |[ A3243G\-F458 ](https://mitofam.com/doc/1135/)| United Kingdom | Macular dystrophy associated with A3243G; hearing loss/diabetes in subsets | 0 | 2 | 2008 | [18332310](https://pubmed.ncbi.nlm.nih.gov/18332310/) | Figure 1 Family 6 and Table 2\. |
| 459 | 3243 | m.3243A\>G | [A3243G\-F459](https://mitofam.com/doc/1136/) | United Kingdom | Macular dystrophy associated with A3243G; hearing loss/diabetes in subsets | 1 | 1 | 2008 | [18332310](https://pubmed.ncbi.nlm.nih.gov/18332310/) | Figure 1 Family 7 and Table 2\. |
| 460 | 3243 | m.3243A\>G | [A3243G\-F460](https://mitofam.com/doc/1137/) | United Kingdom | Gastrointestinal tract involvement in m.3243A\>G mitochondrial disease | 0 | 0 | 2008 | [18391161](https://pubmed.ncbi.nlm.nih.gov/18391161/) | Two related explicit study patients; Patient 2 is maternal aunt of Patient 1\. |
| 461 | 3243 | m.3243A\>G | A3243G\-F461 | United Kingdom | A3243G\-associated macular dystrophy / MIDD\-MELAS spectrum | 0 | 0 | 2008 | [18441172](https://pubmed.ncbi.nlm.nih.gov/18441172/) | Patient 1 singleton proband; no molecularly mapped relatives. |
| 462 | 3243 | m.3243A\>G | A3243G\-F462 | United Kingdom | A3243G\-associated macular dystrophy / MIDD\-MELAS spectrum | 0 | 0 | 2008 | [18441172](https://pubmed.ncbi.nlm.nih.gov/18441172/) | Patient 2 singleton proband; no molecularly mapped relatives. |
| 463 | 3243 | m.3243A\>G | [A3243G\-F463](https://mitofam.com/doc/1138/) | United Kingdom | A3243G\-associated macular dystrophy / MIDD\-MELAS spectrum | 0 | 0 | 2008 | [18441172](https://pubmed.ncbi.nlm.nih.gov/18441172/) | Patients 3 and 4 are a mother/daughter pair by Table 1 footnote; both are treated as explicit probands, so H\=2\-2\=0\. |
| 464 | 3243 | m.3243A\>G | A3243G\-F464 | United Kingdom | A3243G\-associated macular dystrophy / MIDD\-MELAS spectrum | 0 | 0 | 2008 | [18441172](https://pubmed.ncbi.nlm.nih.gov/18441172/) | Patient 5 singleton proband; maternal diabetes history is not molecularly mapped. |
| 465 | 3243 | m.3243A\>G | A3243G\-F465 | United Kingdom | A3243G\-associated macular dystrophy / MIDD\-MELAS spectrum | 0 | 0 | 2008 | [18441172](https://pubmed.ncbi.nlm.nih.gov/18441172/) | Patient 6 singleton proband; no molecularly mapped relatives. |
| 466 | 3243 | m.3243A\>G | A3243G\-F466 | United Kingdom | A3243G\-associated macular dystrophy / MIDD\-MELAS spectrum | 0 | 0 | 2008 | [18441172](https://pubmed.ncbi.nlm.nih.gov/18441172/) | Patient 7 singleton proband; family history unknown. |
| 467 | 3243 | m.3243A\>G | A3243G\-F467 | United Kingdom | A3243G\-associated macular dystrophy / MIDD\-MELAS spectrum | 0 | 0 | 2008 | [18441172](https://pubmed.ncbi.nlm.nih.gov/18441172/) | Patient 8 singleton proband; adult\-onset family diabetes at age 60 was not counted by the paper as positive mitochondrial family history. |
| 468 | 3243 | m.3243A\>G | A3243G\-F468 | United Kingdom | A3243G\-associated macular dystrophy / MIDD\-MELAS spectrum | 0 | 0 | 2008 | [18441172](https://pubmed.ncbi.nlm.nih.gov/18441172/) | Patient 9 singleton proband; no molecularly mapped relatives. |
| 469 | 3243 | m.3243A\>G | A3243G\-F469 | United Kingdom | A3243G\-associated macular dystrophy / MIDD\-MELAS spectrum | 0 | 0 | 2008 | [18441172](https://pubmed.ncbi.nlm.nih.gov/18441172/) | Patient 10 singleton proband; maternal hearing history is not molecularly mapped. |
| 470 | 3243 | m.3243A\>G | A3243G\-F470 | United Kingdom | A3243G\-associated macular dystrophy / MIDD\-MELAS spectrum | 0 | 0 | 2008 | [18441172](https://pubmed.ncbi.nlm.nih.gov/18441172/) | Patient 11 singleton proband; maternal family history is not molecularly mapped. |
| 471 | 3243 | m.3243A\>G | A3243G\-F471 | United Kingdom | A3243G\-associated macular dystrophy / MIDD\-MELAS spectrum | 0 | 0 | 2008 | [18441172](https://pubmed.ncbi.nlm.nih.gov/18441172/) | Patient 12 singleton proband; maternal hearing history is not molecularly mapped. |
| 472 | 3243 | m.3243A\>G | [A3243G\-F472 ](https://mitofam.com/doc/1139/)| United Kingdom | Pregnancy/pre\-eclampsia and magnesium toxicity in an asymptomatic m.3243A\>G carrier | 1 | 0 | 2008 | [18569490](https://pubmed.ncbi.nlm.nih.gov/18569490/) | Original case report; includes one positive mother and one eligible negative\-tested child; no pedigree figure. |
| 473 | 3243 | m.3243A\>G | [A3243G\-F473](https://mitofam.com/doc/1140/) | Japan | Familial mitochondrial diabetes with hyperkalemia, renal involvement, and hearing loss | 0 | 2 | 2008 | [18826862](https://pubmed.ncbi.nlm.nih.gov/18826862/) | Original Japanese familial case report; G/H derived from mother\-child relationship and Affected values. |
| 474 | 3243 | m.3243A\>G | A3243G\-F474 | United Kingdom | Maternally inherited diabetes and deafness with progressive sensorineural hearing loss | 0 | 0 | 2008 | [18950542](https://pubmed.ncbi.nlm.nih.gov/18950542/) | Original clinical record; maternal clinical history is not sufficient for G/H counting or a carrier row. |
| 475 | 3243 | m.3243A\>G | [A3243G\-F475](https://mitofam.com/doc/1141) | Brazil | MIDD with chronic intestinal pseudo\-obstruction; diabetes/hearing impairment in maternal relatives | 1 | 5 | 2008 | [19169492](https://pubmed.ncbi.nlm.nih.gov/19169492/) | Carrier rows are limited to the three molecularly positive relatives. The NT daughter is counted in G/H because her phenotype is explicitly reported, but she is not a carrier row because the proband/mother has qualitative positivity only and no repor |
| 476 | 3243 | m.3243A\>G | A3243G\-F476 | United Kingdom | adult m.3243A\>G mitochondrial disease | 0 | 0 | 2009 | [19204268](https://pubmed.ncbi.nlm.nih.gov/19204268/) | Table reports 24 adult patients with blood, muscle, and urine heteroplasmy; no pedigree/family structure reported. |
| 477 | 3243 | m.3243A\>G | A3243G\-F477 | United Kingdom | adult m.3243A\>G mitochondrial disease | 0 | 0 | 2009 | [19204268](https://pubmed.ncbi.nlm.nih.gov/19204268/) | Table reports 24 adult patients with blood, muscle, and urine heteroplasmy; no pedigree/family structure reported. |
| 478 | 3243 | m.3243A\>G | A3243G\-F478 | United Kingdom | adult m.3243A\>G mitochondrial disease | 0 | 0 | 2009 | [19204268](https://pubmed.ncbi.nlm.nih.gov/19204268/) | Table reports 24 adult patients with blood, muscle, and urine heteroplasmy; no pedigree/family structure reported. |
| 479 | 3243 | m.3243A\>G | A3243G\-F479 | United Kingdom | adult m.3243A\>G mitochondrial disease | 0 | 0 | 2009 | [19204268](https://pubmed.ncbi.nlm.nih.gov/19204268/) | Table reports 24 adult patients with blood, muscle, and urine heteroplasmy; no pedigree/family structure reported. |
| 480 | 3243 | m.3243A\>G | A3243G\-F480 | United Kingdom | adult m.3243A\>G mitochondrial disease | 0 | 0 | 2009 | [19204268](https://pubmed.ncbi.nlm.nih.gov/19204268/) | Table reports 24 adult patients with blood, muscle, and urine heteroplasmy; no pedigree/family structure reported. |
| 481 | 3243 | m.3243A\>G | A3243G\-F481 | United Kingdom | adult m.3243A\>G mitochondrial disease | 0 | 0 | 2009 | [19204268](https://pubmed.ncbi.nlm.nih.gov/19204268/) | Table reports 24 adult patients with blood, muscle, and urine heteroplasmy; no pedigree/family structure reported. |
| 482 | 3243 | m.3243A\>G | A3243G\-F482 | United Kingdom | adult m.3243A\>G mitochondrial disease | 0 | 0 | 2009 | [19204268](https://pubmed.ncbi.nlm.nih.gov/19204268/) | Table reports 24 adult patients with blood, muscle, and urine heteroplasmy; no pedigree/family structure reported. |
| 483 | 3243 | m.3243A\>G | A3243G\-F483 | United Kingdom | adult m.3243A\>G mitochondrial disease | 0 | 0 | 2009 | [19204268](https://pubmed.ncbi.nlm.nih.gov/19204268/) | Table reports 24 adult patients with blood, muscle, and urine heteroplasmy; no pedigree/family structure reported. |
| 484 | 3243 | m.3243A\>G | A3243G\-F484 | United Kingdom | adult m.3243A\>G mitochondrial disease | 0 | 0 | 2009 | [19204268](https://pubmed.ncbi.nlm.nih.gov/19204268/) | Table reports 24 adult patients with blood, muscle, and urine heteroplasmy; no pedigree/family structure reported. |
| 485 | 3243 | m.3243A\>G | A3243G\-F485 | United Kingdom | adult m.3243A\>G mitochondrial disease | 0 | 0 | 2009 | [19204268](https://pubmed.ncbi.nlm.nih.gov/19204268/) | Table reports 24 adult patients with blood, muscle, and urine heteroplasmy; no pedigree/family structure reported. |
| 486 | 3243 | m.3243A\>G | A3243G\-F486 | United Kingdom | adult m.3243A\>G mitochondrial disease | 0 | 0 | 2009 | [19204268](https://pubmed.ncbi.nlm.nih.gov/19204268/) | Table reports 24 adult patients with blood, muscle, and urine heteroplasmy; no pedigree/family structure reported. |
| 487 | 3243 | m.3243A\>G | A3243G\-F487 | United Kingdom | adult m.3243A\>G mitochondrial disease | 0 | 0 | 2009 | [19204268](https://pubmed.ncbi.nlm.nih.gov/19204268/) | Table reports 24 adult patients with blood, muscle, and urine heteroplasmy; no pedigree/family structure reported. |
| 488 | 3243 | m.3243A\>G | A3243G\-F488 | United Kingdom | adult m.3243A\>G mitochondrial disease | 0 | 0 | 2009 | [19204268](https://pubmed.ncbi.nlm.nih.gov/19204268/) | Table reports 24 adult patients with blood, muscle, and urine heteroplasmy; no pedigree/family structure reported. |
| 489 | 3243 | m.3243A\>G | A3243G\-F489 | United Kingdom | adult m.3243A\>G mitochondrial disease | 0 | 0 | 2009 | [19204268](https://pubmed.ncbi.nlm.nih.gov/19204268/) | Table reports 24 adult patients with blood, muscle, and urine heteroplasmy; no pedigree/family structure reported. |
| 490 | 3243 | m.3243A\>G | A3243G\-F490 | United Kingdom | adult m.3243A\>G mitochondrial disease | 0 | 0 | 2009 | [19204268](https://pubmed.ncbi.nlm.nih.gov/19204268/) | Table reports 24 adult patients with blood, muscle, and urine heteroplasmy; no pedigree/family structure reported. |
| 491 | 3243 | m.3243A\>G | A3243G\-F491 | United Kingdom | adult m.3243A\>G mitochondrial disease | 0 | 0 | 2009 | [19204268](https://pubmed.ncbi.nlm.nih.gov/19204268/) | Table reports 24 adult patients with blood, muscle, and urine heteroplasmy; no pedigree/family structure reported. |
| 492 | 3243 | m.3243A\>G | A3243G\-F492 | United Kingdom | adult m.3243A\>G mitochondrial disease | 0 | 0 | 2009 | [19204268](https://pubmed.ncbi.nlm.nih.gov/19204268/) | Table reports 24 adult patients with blood, muscle, and urine heteroplasmy; no pedigree/family structure reported. |
| 493 | 3243 | m.3243A\>G | A3243G\-F493 | United Kingdom | adult m.3243A\>G mitochondrial disease | 0 | 0 | 2009 | [19204268](https://pubmed.ncbi.nlm.nih.gov/19204268/) | Table reports 24 adult patients with blood, muscle, and urine heteroplasmy; no pedigree/family structure reported. |
| 494 | 3243 | m.3243A\>G | A3243G\-F494 | United Kingdom | adult m.3243A\>G mitochondrial disease | 0 | 0 | 2009 | [19204268](https://pubmed.ncbi.nlm.nih.gov/19204268/) | Table reports 24 adult patients with blood, muscle, and urine heteroplasmy; no pedigree/family structure reported. |
| 495 | 3243 | m.3243A\>G | A3243G\-F495 | United Kingdom | adult m.3243A\>G mitochondrial disease | 0 | 0 | 2009 | [19204268](https://pubmed.ncbi.nlm.nih.gov/19204268/) | Table reports 24 adult patients with blood, muscle, and urine heteroplasmy; no pedigree/family structure reported. |
| 496 | 3243 | m.3243A\>G | A3243G\-F496 | United Kingdom | adult m.3243A\>G mitochondrial disease | 0 | 0 | 2009 | [19204268](https://pubmed.ncbi.nlm.nih.gov/19204268/) | Table reports 24 adult patients with blood, muscle, and urine heteroplasmy; no pedigree/family structure reported. |
| 497 | 3243 | m.3243A\>G | A3243G\-F497 | United Kingdom | adult m.3243A\>G mitochondrial disease | 0 | 0 | 2009 | [19204268](https://pubmed.ncbi.nlm.nih.gov/19204268/) | Table reports 24 adult patients with blood, muscle, and urine heteroplasmy; no pedigree/family structure reported. |
| 498 | 3243 | m.3243A\>G | A3243G\-F498 | United Kingdom | adult m.3243A\>G mitochondrial disease | 0 | 0 | 2009 | [19204268](https://pubmed.ncbi.nlm.nih.gov/19204268/) | Table reports 24 adult patients with blood, muscle, and urine heteroplasmy; no pedigree/family structure reported. |
| 499 | 3243 | m.3243A\>G | A3243G\-F499 | United Kingdom | adult m.3243A\>G mitochondrial disease | 0 | 0 | 2009 | [19204268](https://pubmed.ncbi.nlm.nih.gov/19204268/) | Table reports 24 adult patients with blood, muscle, and urine heteroplasmy; no pedigree/family structure reported. |
| 500 | 3243 | m.3243A\>G | A3243G\-F500 | Denmark | A3243G mitochondrial disease with exercise/fat metabolism phenotype | 0 | 0 | 2009 | [19273755](https://pubmed.ncbi.nlm.nih.gov/19273755/) | Patient 4 singleton cohort subject; no pedigree or maternal relative relation reported. |
| 501 | 3243 | m.3243A\>G | A3243G\-F501 | Denmark | A3243G mitochondrial disease with exercise/fat metabolism phenotype | 0 | 0 | 2009 | [19273755](https://pubmed.ncbi.nlm.nih.gov/19273755/) | Patient 5 singleton cohort subject; no pedigree or maternal relative relation reported. |
| 502 | 3243 | m.3243A\>G | A3243G\-F502 | Denmark | A3243G mitochondrial disease with exercise/fat metabolism phenotype | 0 | 0 | 2009 | [19273755](https://pubmed.ncbi.nlm.nih.gov/19273755/) | Patient 6 singleton cohort subject; no pedigree or maternal relative relation reported. |
| 503 | 3243 | m.3243A\>G | A3243G\-F503 | Denmark | A3243G mitochondrial disease with exercise/fat metabolism phenotype | 0 | 0 | 2009 | [19273755](https://pubmed.ncbi.nlm.nih.gov/19273755/) | Patient 7 singleton cohort subject; no pedigree or maternal relative relation reported. |
| 504 | 3243 | m.3243A\>G | [A3243G\-F504](https://mitofam.com/doc/1142) | Morocco | MELAS; late\-onset stroke\-like episodes; diabetes and hearing loss | 2 | 2 | 2009 | [19376555](https://pubmed.ncbi.nlm.nih.gov/19376555/) | Fig.1A pedigree; mother inferred only for G/H. |
| 505 | 3243 | m.3243A\>G | A3243G\-F505 | Australia | MELAS m.3243A\>G with myositis\-like presentation and urine\-only mutation detection | 0 | 0 | 2009 | [19502062](https://pubmed.ncbi.nlm.nih.gov/19502062/) | Original case report; urine\-positive m.3243A\>G despite blood/muscle/hair not detected. |
| 506 | 3243 | m.3243A\>G | [A3243G\-F506](https://mitofam.com/doc/1143) | Italy | MELAS with occipital epilepsy and status epilepticus | 1 | 1 | 2009 | [19589463](https://pubmed.ncbi.nlm.nih.gov/19589463/) | Mother and brother are qualitative A3243G\-positive; no tissue or numerical load reported for them. |
| 507 | 3243 | m.3243A\>G | A3243G\-F507 | Portugal | MIDD with cardiomyopathy and kidney disease | 0 | 0 | 2010 | [19864902](https://pubmed.ncbi.nlm.nih.gov/19864902/) | Original case report with maternal clinical history; clinical\-only mother excluded from carrier rows and G/H. |
| 508 | 3243 | m.3243A\>G | A3243G\-F508 | Japan | hearing loss with m.3243A\>G | 0 | 0 | 2010 | [20111055](https://pubmed.ncbi.nlm.nih.gov/20111055/) | Table 4 patient\-level screening row. |
| 509 | 3243 | m.3243A\>G | A3243G\-F509 | Japan | hearing loss with m.3243A\>G | 0 | 0 | 2010 | [20111055](https://pubmed.ncbi.nlm.nih.gov/20111055/) | Table 4 patient\-level screening row. |
| 510 | 3243 | m.3243A\>G | A3243G\-F510 | Japan | hearing loss with m.3243A\>G | 0 | 0 | 2010 | [20111055](https://pubmed.ncbi.nlm.nih.gov/20111055/) | Table 4 patient\-level screening row. |
| 511 | 3243 | m.3243A\>G | A3243G\-F511 | Japan | hearing loss with m.3243A\>G | 0 | 0 | 2010 | [20111055](https://pubmed.ncbi.nlm.nih.gov/20111055/) | Table 4 patient\-level screening row. |
| 512 | 3243 | m.3243A\>G | A3243G\-F512 | Japan | hearing loss with m.3243A\>G | 0 | 0 | 2010 | [20111055](https://pubmed.ncbi.nlm.nih.gov/20111055/) | Table 4 patient\-level screening row. |
| 513 | 3243 | m.3243A\>G | A3243G\-F513 | Japan | hearing loss with m.3243A\>G | 0 | 0 | 2010 | [20111055](https://pubmed.ncbi.nlm.nih.gov/20111055/) | Table 4 patient\-level screening row. |
| 514 | 3243 | m.3243A\>G | A3243G\-F514 | Japan | hearing loss with m.3243A\>G | 0 | 0 | 2010 | [20111055](https://pubmed.ncbi.nlm.nih.gov/20111055/) | Table 4 patient\-level screening row. |
| 515 | 3243 | m.3243A\>G | A3243G\-F515 | Japan | hearing loss with m.3243A\>G | 0 | 0 | 2010 | [20111055](https://pubmed.ncbi.nlm.nih.gov/20111055/) | Table 4 patient\-level screening row. |
| 516 | 3243 | m.3243A\>G | A3243G\-F516 | Japan | hearing loss with m.3243A\>G | 0 | 0 | 2010 | [20111055](https://pubmed.ncbi.nlm.nih.gov/20111055/) | Table 4 patient\-level screening row. |
| 517 | 3243 | m.3243A\>G | A3243G\-F517 | United Kingdom | CPEO with m.3243A\>G | 0 | 0 | 2010 | [20164463](https://pubmed.ncbi.nlm.nih.gov/20164463/) | Original CPEO cohort; patient 13 has m.3243A\>G and family history, but no countable relatives or bulk tissue heteroplasmy values. |
| 518 | 3243 | m.3243A\>G | A3243G\-F518 | Germany | MELAS with renal failure/renal transplant, diabetes, cardiomyopathy and deafness | 0 | 0 | 2010 | [20552288](https://pubmed.ncbi.nlm.nih.gov/20552288/) | Original singleton case report; no affected maternal relatives reported. |
| 519 | 3243 | m.3243A\>G |[ A3243G\-F519 ](https://mitofam.com/doc/1144)| Japan | MERRF/MELAS overlap with A3243G and A8344G | 1 | 2 | 2010 | [20610441](https://pubmed.ncbi.nlm.nih.gov/20610441/) | / |
| 520 | 3243 | m.3243A\>G | [A3243G\-F520](https://mitofam.com/doc/1145) | Japan | MELAS with endothelial tight\-junction disruption | 1 | 0 | 2010 | [20799154](https://pubmed.ncbi.nlm.nih.gov/20799154/) | Proband plus asymptomatic A3243G\-positive mother. |
| 521 | 3243 | m.3243A\>G | A3243G\-F521 | Belgium | MIDD; ptosis; macular/cone\-rod dystrophy | 0 | 0 | 2010 | [21067488](https://pubmed.ncbi.nlm.nih.gov/21067488/) | Case 1 singleton/uninformative row; mother is excluded from G/H and carrier rows because she lacks molecular testing and mother\-level eligibility is not satisfied. |
| 522 | 3243 | m.3243A\>G | A3243G\-F522 | Belgium | MIDD; ptosis; sensorineural hearing loss; glucose intolerance | 0 | 0 | 2010 | [21067488](https://pubmed.ncbi.nlm.nih.gov/21067488/) | Case 2 family; mother/sister statement is not enough for G/H or carrier inclusion. |
| 523 | 3243 | m.3243A\>G | A3243G\-F523 | France | A3243G carrier; prenatal/preimplantation diagnosis context | 0 | 0 | 2011 | [21120938](https://pubmed.ncbi.nlm.nih.gov/21120938/) | Family 1 / carrier woman P1 from Table 1\. |
| 524 | 3243 | m.3243A\>G | A3243G\-F524 | France | A3243G carrier; prenatal/preimplantation diagnosis context | 0 | 0 | 2011 | [21120938](https://pubmed.ncbi.nlm.nih.gov/21120938/) | Family 2 / carrier woman P2 from Table 1\. |
| 525 | 3243 | m.3243A\>G | A3243G\-F525 | France | A3243G carrier; prenatal/preimplantation diagnosis context | 0 | 0 | 2011 | [21120938](https://pubmed.ncbi.nlm.nih.gov/21120938/) | Family 3 / carrier woman P3 from Table 1\. |
| 526 | 3243 | m.3243A\>G | A3243G\-F526 | France | A3243G carrier; prenatal/preimplantation diagnosis context | 0 | 0 | 2011 | [21120938](https://pubmed.ncbi.nlm.nih.gov/21120938/) | Family 4 / carrier woman P4 from Table 1\. |
| 527 | 3243 | m.3243A\>G | A3243G\-F527 | France | A3243G carrier; prenatal/preimplantation diagnosis context | 0 | 0 | 2011 | [21120938](https://pubmed.ncbi.nlm.nih.gov/21120938/) | Family 5 / carrier woman P5 from Table 1\. |
| 528 | 3243 | m.3243A\>G | A3243G\-F528 | France | A3243G carrier; prenatal/preimplantation diagnosis context | 0 | 0 | 2011 | [21120938](https://pubmed.ncbi.nlm.nih.gov/21120938/) | Family 6 / carrier woman P6 from Table 1\. |
| 529 | 3243 | m.3243A\>G | A3243G\-F529 | France | A3243G carrier; prenatal/preimplantation diagnosis context | 0 | 0 | 2011 | [21120938](https://pubmed.ncbi.nlm.nih.gov/21120938/) | Family 7 / carrier woman P7 from Table 1\. |
| 530 | 3243 | m.3243A\>G | A3243G\-F530 | France | A3243G carrier; prenatal/preimplantation diagnosis context | 0 | 0 | 2011 | [21120938](https://pubmed.ncbi.nlm.nih.gov/21120938/) | Family 8 / carrier woman P8 from Table 1\. |
| 531 | 3243 | m.3243A\>G | A3243G\-F531 | Australia | MELAS; complex I deficiency | 0 | 0 | 2011 | [21364701](https://pubmed.ncbi.nlm.nih.gov/21364701/) | MELAS proband with about 60% muscle mutant load; maternal fibroblasts n.d. |
| 532 | 3243 | m.3243A\>G | [A3243G\-F532](https://mitofam.com/doc/1146) | Australia | MELAS; complex I deficiency | 0 | 0 | 2011 | [21364701](https://pubmed.ncbi.nlm.nih.gov/21364701/) | MELAS proband with about 60% muscle mutant load; mother has about 5% in blood but clinical status is not provided. |
| 533 | 3243 | m.3243A\>G | A3243G\-F533 | Australia | MELAS; complex I deficiency | 0 | 0 | 2011 | [21364701](https://pubmed.ncbi.nlm.nih.gov/21364701/) | MELAS proband with about 70% muscle mutant load; no molecularly mapped relative reported in the table. |
| 534 | 3243 | m.3243A\>G | [A3243G\-F534](https://mitofam.com/doc/1147/) | France | MELAS reproductive risk and PGD for m.3243A\>G | 1 | 0 | 2011 | [21473984](https://pubmed.ncbi.nlm.nih.gov/21473984/) | Couple 1 A3243G PGD family; prior terminated fetuses retained as human fetal carrier rows. |
| 535 | 3243 | m.3243A\>G | A3243G\-F535 | Belgium | A3243G carrier; polar\-body/PGD methodological context | 0 | 0 | 2011 | [21496500](https://pubmed.ncbi.nlm.nih.gov/21496500/) | Patient 1 singleton PBMC subject with known A3243G mutation; no pedigree or maternal relative relation reported. |
| 536 | 3243 | m.3243A\>G | A3243G\-F536 | Belgium | A3243G carrier; polar\-body/PGD methodological context | 0 | 0 | 2011 | [21496500](https://pubmed.ncbi.nlm.nih.gov/21496500/) | Patient 2 singleton PBMC/oocyte subject with known A3243G mutation; no pedigree or maternal relative relation reported. |
| 537 | 3243 | m.3243A\>G | A3243G\-F537 | Belgium | A3243G carrier; polar\-body/PGD methodological context | 0 | 0 | 2011 | [21496500](https://pubmed.ncbi.nlm.nih.gov/21496500/) | Patient 3 singleton PBMC subject with known A3243G mutation; no pedigree or maternal relative relation reported. |
| 538 | 3243 | m.3243A\>G | A3243G\-F538 | Belgium | A3243G carrier; polar\-body/PGD methodological context | 0 | 0 | 2011 | [21496500](https://pubmed.ncbi.nlm.nih.gov/21496500/) | Patient 4 singleton PBMC subject with known A3243G mutation; no pedigree or maternal relative relation reported. |
| 539 | 3243 | m.3243A\>G | A3243G\-F539 | Belgium | asymptomatic A3243G carrier; polar\-body/PGD methodological context | 0 | 0 | 2011 | [21496500](https://pubmed.ncbi.nlm.nih.gov/21496500/) | Patient 5 singleton asymptomatic PBMC subject with known A3243G mutation; no pedigree or maternal relative relation reported. |
| 540 | 3243 | m.3243A\>G | A3243G\-F540 | Portugal | syndromic sensorineural hearing loss; hypertrophic cardiomyopathy; generalized muscle atrophy | 0 | 0 | 2012 | [22567359](https://pubmed.ncbi.nlm.nih.gov/22567359/) | One m.3243A\>G\-positive pediatric SNHL case; exact heteroplasmy load not reported. |
| 541 | 3243 | m.3243A\>G | A3243G\-F541 | USA | MELAS | 0 | 0 | 2012 | [22115768](https://pubmed.ncbi.nlm.nih.gov/22115768/) | Patient 4 is the only evidence\-supported carrier for this family row. |
| 542 | 3243 | m.3243A\>G | A3243G\-F542 | USA | dystonia/choreoathetosis | 0 | 0 | 2012 | [22115768](https://pubmed.ncbi.nlm.nih.gov/22115768/) | Patient 5 is the only evidence\-supported carrier for this family row. |
| 543 | 3243 | m.3243A\>G | A3243G\-F543 | USA | MELAS | 0 | 0 | 2012 | [22115768](https://pubmed.ncbi.nlm.nih.gov/22115768/) | Patient 7 is the only evidence\-supported carrier for this family row. |
| 544 | 3243 | m.3243A\>G | A3243G\-F544 | United Kingdom | MELAS | 0 | 0 | 2012 | [22249460](https://pubmed.ncbi.nlm.nih.gov/22249460/) | Patient 1; no family relationship reported. |
| 545 | 3243 | m.3243A\>G | A3243G\-F545 | United Kingdom | MELAS | 0 | 0 | 2012 | [22249460](https://pubmed.ncbi.nlm.nih.gov/22249460/) | Patient 2; no family relationship reported. |
| 546 | 3243 | m.3243A\>G | A3243G\-F546 | United Kingdom | MELAS | 0 | 0 | 2012 | [22249460](https://pubmed.ncbi.nlm.nih.gov/22249460/) | Patient 3; no family relationship reported. |
| 547 | 3243 | m.3243A\>G | A3243G\-F547 | United Kingdom | MELAS | 0 | 0 | 2012 | [22249460](https://pubmed.ncbi.nlm.nih.gov/22249460/) | Patient 4; no family relationship reported. |
| 548 | 3243 | m.3243A\>G | A3243G\-F548 | United Kingdom | MELAS | 0 | 0 | 2012 | [22249460](https://pubmed.ncbi.nlm.nih.gov/22249460/) | Patient 5; no family relationship reported. |
| 549 | 3243 | m.3243A\>G | A3243G\-F549 | United Kingdom | MELAS | 0 | 0 | 2012 | [22249460](https://pubmed.ncbi.nlm.nih.gov/22249460/) | Patient 6; no family relationship reported. |
| 550 | 3243 | m.3243A\>G | A3243G\-F550 | United Kingdom | MERRF phenotype with m.3243A\>G | 0 | 0 | 2012 | [22249460](https://pubmed.ncbi.nlm.nih.gov/22249460/) | Patient 7; no family relationship reported. |
| 551 | 3243 | m.3243A\>G | A3243G\-F551 | Germany | Classical MERRF phenotype with mitochondrial encephalopathy features | 0 | 0 | 2012 | [22270878](https://pubmed.ncbi.nlm.nih.gov/22270878/) | Original singleton case report; family molecular testing declined. |
| 552 | 3243 | m.3243A\>G | A3243G\-F552 | United Kingdom | MELAS | 0 | 0 | 2012 | [22577219](https://pubmed.ncbi.nlm.nih.gov/22577219/) | Pt1; no family relationship reported. |
| 553 | 3243 | m.3243A\>G | A3243G\-F553 | United Kingdom | MELAS | 0 | 0 | 2012 | [22577219](https://pubmed.ncbi.nlm.nih.gov/22577219/) | Pt2; no family relationship reported. |
| 554 | 3243 | m.3243A\>G | A3243G\-F554 | United Kingdom | MELAS | 0 | 0 | 2012 | [22577219](https://pubmed.ncbi.nlm.nih.gov/22577219/) | Pt3; no family relationship reported. |
| 555 | 3243 | m.3243A\>G | A3243G\-F555 | United Kingdom | MELAS | 0 | 0 | 2012 | [22577219](https://pubmed.ncbi.nlm.nih.gov/22577219/) | Pt4; no family relationship reported. |
| 556 | 3243 | m.3243A\>G | A3243G\-F556 | United Kingdom | MELAS | 0 | 0 | 2012 | [22577219](https://pubmed.ncbi.nlm.nih.gov/22577219/) | Pt5; no family relationship reported. |
| 557 | 3243 | m.3243A\>G | A3243G\-F557 | United Kingdom | MELAS | 0 | 0 | 2012 | [22577219](https://pubmed.ncbi.nlm.nih.gov/22577219/) | Pt6; no family relationship reported. |
| 558 | 3243 | m.3243A\>G | A3243G\-F558 | United Kingdom | cardiomyopathy | 0 | 0 | 2012 | [22577219](https://pubmed.ncbi.nlm.nih.gov/22577219/) | Pt7; no family relationship reported. |
| 559 | 3243 | m.3243A\>G | A3243G\-F559 | United Kingdom | MELAS | 0 | 0 | 2012 | [22577219](https://pubmed.ncbi.nlm.nih.gov/22577219/) | Pt8; no family relationship reported. |
| 560 | 3243 | m.3243A\>G | [A3243G\-F560](https://mitofam.com/doc/1148/) | United States | MELAS and reproductive risk reduction by blastocyst PGD | 2 | 0 | 2012 | [22921075](https://pubmed.ncbi.nlm.nih.gov/22921075/) | PGD case; embryos/oocytes are excluded from carrier rows, but mother, affected daughter, and newborn boy are eligible family records. |
| 561 | 3243 | m.3243A\>G | [A3243G\-F561](https://mitofam.com/doc/1149/) | Netherlands | MIDD evolving into MELAS; diabetes; deafness; insulin resistance | 1 | 4 | 2012 | [23230016](https://pubmed.ncbi.nlm.nih.gov/23230016/) | Figure 1 pedigree. |
| 562 | 3243 | m.3243A\>G | [A3243G\-F562](https://mitofam.com/doc/1150/) | USA | mtDNA disorder; low\-level m.3243A\>G with hearing loss and vision problems in proband | 0 | 0 | 2013 | [23288206](https://pubmed.ncbi.nlm.nih.gov/23288206/) | Figure 4a family 1\. |
| 563 | 3243 | m.3243A\>G | A3243G\-F563 | Finland | MIDD | 0 | 0 | 2013 | [24003133](https://pubmed.ncbi.nlm.nih.gov/24003133/) | M1 is the only evidence\-supported human carrier for this family row; derived iPSC/cell lines are excluded. |
| 564 | 3243 | m.3243A\>G | A3243G\-F564 | Finland | MIDD and ataxia | 0 | 0 | 2013 | [24003133](https://pubmed.ncbi.nlm.nih.gov/24003133/) | M2 is the only evidence\-supported human carrier for this family row; derived iPSC/cell lines are excluded. |
| 565 | 3243 | m.3243A\>G | A3243G\-F565 | Finland | cardiomyopathy | 0 | 0 | 2013 | [24003133](https://pubmed.ncbi.nlm.nih.gov/24003133/) | M3 is the only evidence\-supported human carrier for this family row; derived iPSC/cell lines are excluded. |
| 566 | 3243 | m.3243A\>G | [A3243G\-F566 ](https://mitofam.com/doc/1151/)| United Kingdom | mtDNA disease reproductive risk; prenatal A3243G testing | 0 | 0 | 2014 | [24642831](https://pubmed.ncbi.nlm.nih.gov/24642831/) | Pt1 prenatal A3243G family. |
| 567 | 3243 | m.3243A\>G | A3243G\-F567 | United Kingdom | mtDNA disease reproductive risk; prenatal A3243G testing | 0 | 0 | 2014 | [24642831](https://pubmed.ncbi.nlm.nih.gov/24642831/) | Pt3 prenatal A3243G family. |
| 568 | 3243 | m.3243A\>G | [A3243G\-F568](https://mitofam.com/doc/1152/) | USA | A3243G heteroplasmy in healthy mother\-child pair | 2 | 0 | 2014 | [25313049](https://pubmed.ncbi.nlm.nih.gov/25313049/) | M512 |
| 569 | 3243 | m.3243A\>G | A3243G\-F569 | Belgium | Suspected mitochondrial DNA disorder; m.3243A\>G carrier | 0 | 0 | 2014 | [24667782](https://pubmed.ncbi.nlm.nih.gov/24667782/) | Original diagnostic sequencing cohort; sample 28 has leukocyte m.3243A\>G 19%, but subject phenotype and family data are not specified. |
| 570 | 3243 | m.3243A\>G | A3243G\-F570 | United Kingdom | Exercise intolerance; ptosis | 0 | 0 | 2015 | [26469001](https://pubmed.ncbi.nlm.nih.gov/26469001/) | / |
| 571 | 3243 | m.3243A\>G | A3243G\-F571 | United Kingdom | Exercise intolerance; mild deafness | 0 | 0 | 2015 | [26469001](https://pubmed.ncbi.nlm.nih.gov/26469001/) | / |
| 572 | 3243 | m.3243A\>G | A3243G\-F572 | United Kingdom | Epilepsy; bilateral sensorineural hearing loss; diabetes; gastrointestinal complications | 0 | 0 | 2015 | [26469001](https://pubmed.ncbi.nlm.nih.gov/26469001/) | / |
| 573 | 3243 | m.3243A\>G | A3243G\-F573 | United Kingdom | Modest exercise intolerance | 0 | 0 | 2015 | [26469001](https://pubmed.ncbi.nlm.nih.gov/26469001/) | / |
| 574 | 3243 | m.3243A\>G | A3243G\-F574 | United Kingdom | CPEO | 0 | 0 | 2015 | [26469001](https://pubmed.ncbi.nlm.nih.gov/26469001/) | / |
| 575 | 3243 | m.3243A\>G | A3243G\-F575 | Tunisia | Dilated mitochondrial cardiomyopathy; left ventricular hypertrophy; lactic acidosis | 0 | 0 | 2016 | [26258512](https://pubmed.ncbi.nlm.nih.gov/26258512/) | Family A; Figure 1A. |
| 576 | 3243 | m.3243A\>G | [A3243G\-F576](https://mitofam.com/doc/1153/) | Spain | MIDD/Ballinger\-Wallace syndrome; macular dystrophy, diabetes and deafness | 0 | 2 | 2016 | [26897329](https://pubmed.ncbi.nlm.nih.gov/26897329/) | / |
| 577 | 3243 | m.3243A\>G | [A3243G\-F577](https://mitofam.com/doc/1154/) | Japan | Mitochondrial cardiomyopathy; diabetes; deafness | 0 | 1 | 2016 | [27402860](https://pubmed.ncbi.nlm.nih.gov/27402860/) | Case 1 maternal family. |
| 578 | 3243 | m.3243A\>G | A3243G\-F578 | Japan | Mitochondrial cardiomyopathy; diabetes | 0 | 0 | 2016 | [27402860](https://pubmed.ncbi.nlm.nih.gov/27402860/) | Case 2 singleton row. |
| 579 | 3243 | m.3243A\>G | [A3243G\-F579](https://mitofam.com/doc/1155/) | USA | MELAS syndrome; mitochondrial replacement therapy carrier family | 10 | 14 | 2016 | [27919073](https://pubmed.ncbi.nlm.nih.gov/27919073/) | Family 5 A3243G MELAS pedigree; G/H includes G/H\-only NT/open relatives, while oocytes, embryos and ES cell lines are excluded. |
| 580 | 3243 | m.3243A\>G | [A3243G\-F580](https://mitofam.com/doc/1156/) | Netherlands | Presumably de novo m.3243A\>G mtDNA point mutation | 0 | 0 | 2017 | [27450679](https://pubmed.ncbi.nlm.nih.gov/27450679/) | Table 1 de novo cohort family 16390; daughter is molecularly positive in urine but phenotype is not reported. |
| 581 | 3243 | m.3243A\>G | A3243G\-F581 | Netherlands | Presumably de novo m.3243A\>G mtDNA point mutation | 0 | 0 | 2017 | [27450679](https://pubmed.ncbi.nlm.nih.gov/27450679/) | Table 1 de novo cohort family 19462\. |
| 582 | 3243 | m.3243A\>G | A3243G\-F582 | Netherlands | Presumably de novo m.3243A\>G mtDNA point mutation; severe infantile disease with POLG diagnosis | 0 | 0 | 2017 | [27450679](https://pubmed.ncbi.nlm.nih.gov/27450679/) | This\-article case 5; low m.3243A\>G recurrence risk and negative PGD cycle documented. |
| 583 | 3243 | m.3243A\>G | A3243G\-F583 | USA | MIDD\-associated macular dystrophy with cystoid macular changes | 0 | 0 | 2017 | [28140742](https://pubmed.ncbi.nlm.nih.gov/28140742/) | / |
| 584 | 3243 | m.3243A\>G | A3243G\-F584 | Japan | Maternally inherited sensorineural hearing loss | 0 | 0 | 2017 | [28320335](https://pubmed.ncbi.nlm.nih.gov/28320335/) | / |
| 585 | 3243 | m.3243A\>G | A3243G\-F585 | Japan | Sensorineural hearing loss with heteroplasmic m.3243A\>G | 0 | 0 | 2017 | [28320335](https://pubmed.ncbi.nlm.nih.gov/28320335/) | / |
| 586 | 3243 | m.3243A\>G | A3243G\-F586 | Japan | Sensorineural hearing loss with heteroplasmic m.3243A\>G | 0 | 0 | 2017 | [28320335](https://pubmed.ncbi.nlm.nih.gov/28320335/) | / |
| 587 | 3243 | m.3243A\>G | A3243G\-F587 | Japan | Sensorineural hearing loss with heteroplasmic m.3243A\>G | 0 | 0 | 2017 | [28320335](https://pubmed.ncbi.nlm.nih.gov/28320335/) | / |
| 588 | 3243 | m.3243A\>G | A3243G\-F588 | USA | A3243G\-associated macular dystrophy; corneal endothelial polymegathism | 0 | 0 | 2018 | [29376197](https://pubmed.ncbi.nlm.nih.gov/29376197/) | African American singleton case\-series subject; no pedigree or relatives reported. |
| 589 | 3243 | m.3243A\>G | A3243G\-F589 | USA | A3243G\-associated macular dystrophy; corneal endothelial polymegathism | 0 | 0 | 2018 | [29376197](https://pubmed.ncbi.nlm.nih.gov/29376197/) | Caucasian singleton case\-series subject; no pedigree or relatives reported. |
| 590 | 3243 | m.3243A\>G | A3243G\-F590 | USA | A3243G\-associated macular dystrophy; corneal endothelial polymegathism | 0 | 0 | 2018 | [29376197](https://pubmed.ncbi.nlm.nih.gov/29376197/) | Caucasian singleton case\-series subject; no pedigree or relatives reported. |
| 591 | 3243 | m.3243A\>G | A3243G\-F591 | USA | A3243G\-associated macular dystrophy; corneal endothelial polymegathism | 0 | 0 | 2018 | [29376197](https://pubmed.ncbi.nlm.nih.gov/29376197/) | Caucasian singleton case\-series subject; no pedigree or relatives reported. |
| 592 | 3243 | m.3243A\>G | A3243G\-F592 | USA | A3243G\-associated macular dystrophy; corneal endothelial polymegathism | 0 | 0 | 2018 | [29376197](https://pubmed.ncbi.nlm.nih.gov/29376197/) | Hispanic singleton case\-series subject; no pedigree or relatives reported. |
| 593 | 3243 | m.3243A\>G | A3243G\-F593 | Japan | MELAS with nephrotic syndrome, cardiomyopathy, cecal volvulus and severe systemic symptoms | 0 | 0 | 2018 | [29480536](https://pubmed.ncbi.nlm.nih.gov/29480536/) | / |
| 594 | 3243 | m.3243A\>G | [A3243G\-F594](https://mitofam.com/doc/1157/) | Austria | A3243G spectrum; neonatal cardiomyopathy; WPW; multisystem mitochondrial disease | 2 | 1 | 2018 | [30133155](https://pubmed.ncbi.nlm.nih.gov/30133155/) | Postmortem family testing found mother and siblings positive. |
| 595 | 3243 | m.3243A\>G | A3243G\-F595 | Austria | MELAS; sensorineural hearing loss; hypertrophic cardiomyopathy | 0 | 0 | 2018 | [30133155](https://pubmed.ncbi.nlm.nih.gov/30133155/) | No family molecular data reported. |
| 596 | 3243 | m.3243A\>G | [A3243G\-F596](https://mitofam.com/doc/1158/) | Austria | A3243G spectrum; cardiomyopathy; sensorineural hearing loss | 0 | 2 | 2018 | [30133155](https://pubmed.ncbi.nlm.nih.gov/30133155/) | Mother and maternal uncle are mutation\-positive, but exact tissue/load is not reported. |
| 597 | 3243 | m.3243A\>G | A3243G\-F597 | Austria | MELAS; complex I deficiency | 0 | 0 | 2018 | [30133155](https://pubmed.ncbi.nlm.nih.gov/30133155/) | No family molecular data reported. |
| 598 | 3243 | m.3243A\>G | A3243G\-F598 | Austria | MIDD/MELAS spectrum; cardiomyopathy; renal disease | 0 | 0 | 2018 | [30133155](https://pubmed.ncbi.nlm.nih.gov/30133155/) | Mother clinically small but not molecularly tested/reported. |
| 599 | 3243 | m.3243A\>G | A3243G\-F599 | Austria | A3243G spectrum; diabetes; cardiomyopathy | 0 | 0 | 2018 | [30133155](https://pubmed.ncbi.nlm.nih.gov/30133155/) | Parents' mutation status not reported. |
| 600 | 3243 | m.3243A\>G | A3243G\-F600 | Austria | A3243G spectrum; cardiomyopathy | 0 | 0 | 2018 | [30133155](https://pubmed.ncbi.nlm.nih.gov/30133155/) | No family molecular data reported. |
| 601 | 3243 | m.3243A\>G | A3243G\-F601 | Austria | A3243G spectrum; dilated cardiomyopathy | 0 | 0 | 2018 | [30133155](https://pubmed.ncbi.nlm.nih.gov/30133155/) | No family molecular data reported. |
| 602 | 3243 | m.3243A\>G | A3243G\-F602 | Austria | A3243G spectrum; cardiomyopathy | 0 | 0 | 2018 | [30133155](https://pubmed.ncbi.nlm.nih.gov/30133155/) | Mother died suddenly at 62 but mutation status not reported. |
| 603 | 3243 | m.3243A\>G | [A3243G\-F603](https://mitofam.com/doc/1159/) | Italy | Recurrent nephrolithiasis/kidney stones with mitochondrial disorder due to m.3243A\>G | 0 | 5 | 2018 | [30406307](https://pubmed.ncbi.nlm.nih.gov/30406307/) | Figure 1 genealogical tree; exact tissue and percentage of m.3243A\>G are not reported. |
| 604 | 3243 | m.3243A\>G | A3243G\-F604 | China | Mitochondrial encephalomyopathy | 0 | 0 | 2019 | [31083203](https://pubmed.ncbi.nlm.nih.gov/31083203/) | Original de novo candidate case report; parents were negative in peripheral blood. |
| 605 | 3243 | m.3243A\>G | [A3243G\-F605 ](https://mitofam.com/doc/1160/)| China | MIDD; diabetes; mild bilateral SNHL; brain MRI abnormalities; elevated lactate | 0 | 1 | 2019 | [31143779](https://pubmed.ncbi.nlm.nih.gov/31143779/) | de novo proband II\-1 son III\-1 affected G/H |
| 606 | 3243 | m.3243A\>G | A3243G\-F606 | Japan | MIDD/MELAS overlap; diabetes; hearing difficulty; stroke\-like episode | 0 | 0 | 2019 | [31630688](https://pubmed.ncbi.nlm.nih.gov/31630688/) | No pedigree; mother had diabetes/hearing loss by history only and was not molecularly tested. |
| 607 | 3243 | m.3243A\>G | A3243G\-F607 | Taiwan | Adult\-onset MELAS mimicking herpes simplex encephalitis | 0 | 0 | 2019 | [31867706](https://pubmed.ncbi.nlm.nih.gov/31867706/) | Original case report; nationality inferred from Taiwan corresponding affiliation. Clinical\-only relatives are excluded from carrier rows and G/H. |
| 608 | 3243 | m.3243A\>G | [A3243G\-F608](https://mitofam.com/doc/1161/) | China | MELAS\+MIDD; diabetes; hearing loss | 0 | 6 | 2020 | [31722256](https://pubmed.ncbi.nlm.nih.gov/31722256/) | Seven Han Chinese family series; blood PSQ values used as final loads. |
| 609 | 3243 | m.3243A\>G | [A3243G\-F609](https://mitofam.com/doc/1162/) | China | MELAS; hearing loss; diabetes | 1 | 3 | 2020 | [31722256](https://pubmed.ncbi.nlm.nih.gov/31722256/) | DA2 includes Table 1 carriers plus Figure/text clinical\-only relatives for G/H\-only. |
| 610 | 3243 | m.3243A\>G | [A3243G\-F610](https://mitofam.com/doc/1163/) | China | MELAS; hearing loss | 0 | 1 | 2020 | [31722256](https://pubmed.ncbi.nlm.nih.gov/31722256/) | Blood PSQ values used. |
| 611 | 3243 | m.3243A\>G | [A3243G\-F611 ](https://mitofam.com/doc/1164/)| China | MELAS; hearing loss | 0 | 1 | 2020 | [31722256](https://pubmed.ncbi.nlm.nih.gov/31722256/) | Blood PSQ values used. |
| 612 | 3243 | m.3243A\>G | A3243G\-F612 | China | Mitochondrial myopathy; diabetes | 0 | 0 | 2020 | [31722256](https://pubmed.ncbi.nlm.nih.gov/31722256/) | Blood PSQ value used. |
| 613 | 3243 | m.3243A\>G | [A3243G\-F613](https://mitofam.com/doc/1165/) | China | Life\-threatening mitochondrial myopathy; cardiac arrest | 4 | 0 | 2020 | [31722256](https://pubmed.ncbi.nlm.nih.gov/31722256/) | Family DA6 has high\-load asymptomatic carriers. |
| 614 | 3243 | m.3243A\>G | [A3243G\-F614 ](https://mitofam.com/doc/1166/)| China | NARP\-like syndrome; diabetes; hearing loss | 0 | 5 | 2020 | [31722256](https://pubmed.ncbi.nlm.nih.gov/31722256/) | Table 1 labels the proband as DA7\-III\-3; text has a DA7\-III\-4 inconsistency. |
| 615 | 3243 | m.3243A\>G | A3243G\-F615 | China | MELAS without ragged\-red fibers | 0 | 0 | 2020 | [31726383](https://pubmed.ncbi.nlm.nih.gov/31726383/) | Table 3 Patient 1; singleton cohort subject with no reported family relationship. |
| 616 | 3243 | m.3243A\>G | A3243G\-F616 | China | MELAS without ragged\-red fibers | 0 | 0 | 2020 | [31726383](https://pubmed.ncbi.nlm.nih.gov/31726383/) | Table 3 Patient 2; singleton cohort subject with no reported family relationship. |
| 617 | 3243 | m.3243A\>G | A3243G\-F617 | China | MELAS without ragged\-red fibers | 0 | 0 | 2020 | [31726383](https://pubmed.ncbi.nlm.nih.gov/31726383/) | Table 3 Patient 3; singleton cohort subject with no reported family relationship. |
| 618 | 3243 | m.3243A\>G | A3243G\-F618 | China | MELAS without ragged\-red fibers | 0 | 0 | 2020 | [31726383](https://pubmed.ncbi.nlm.nih.gov/31726383/) | Table 3 Patient 4; singleton cohort subject with no reported family relationship. |
| 619 | 3243 | m.3243A\>G | A3243G\-F619 | China | MELAS without ragged\-red fibers | 0 | 0 | 2020 | [31726383](https://pubmed.ncbi.nlm.nih.gov/31726383/) | Table 3 Patient 5; singleton cohort subject with no reported family relationship. |
| 620 | 3243 | m.3243A\>G | A3243G\-F620 | China | MELAS without ragged\-red fibers | 0 | 0 | 2020 | [31726383](https://pubmed.ncbi.nlm.nih.gov/31726383/) | Table 3 Patient 6; singleton cohort subject with no reported family relationship. |
| 621 | 3243 | m.3243A\>G | A3243G\-F621 | Germany | A3243G\-related mitochondrial disease; post\-mortem genotype\-phenotype analysis | 0 | 0 | 2020 | [32085658](https://pubmed.ncbi.nlm.nih.gov/32085658/) | / |
| 622 | 3243 | m.3243A\>G | A3243G\-F622 | Turkey | Mitochondrial cytopathy | 0 | 0 | 2020 | [32167396](https://pubmed.ncbi.nlm.nih.gov/32167396/) | Subject \#7 singleton repository row. |
| 623 | 3243 | m.3243A\>G | A3243G\-F623 | Turkey | Mitochondrial cytopathy | 0 | 0 | 2020 | [32167396](https://pubmed.ncbi.nlm.nih.gov/32167396/) | Subject \#30 singleton repository row. |
| 624 | 3243 | m.3243A\>G | A3243G\-F624 | China | Non\-syndromic hearing loss with m.3243A\>G | 0 | 0 | 2020 | [32169613](https://pubmed.ncbi.nlm.nih.gov/32169613/) | Original cohort row for SD310 only. Figure 3 pedigrees are for other probands and are not used for this family. |
| 625 | 3243 | m.3243A\>G | A3243G\-F625 | Australia | Pediatric suspected mitochondrial disease with exercise intolerance/progressive muscle weakness | 0 | 0 | 2020 | [32313153](https://pubmed.ncbi.nlm.nih.gov/32313153/) | Genome\-sequencing cohort row; no pedigree or exact patient\-specific heteroplasmy in available main PDF. |
| 626 | 3243 | m.3243A\>G | [A3243G\-F626](https://mitofam.com/doc/1167/) | China | Mitochondrial cardiomyopathy with chronic intestinal pseudo\-obstruction and m.3243A\>G | 0 | 1 | 2020 | [32554818](https://pubmed.ncbi.nlm.nih.gov/32554818/) | Original case report; older daughter entered under target\-positive mother plus explicit child phenotype rule. |
| 627 | 3243 | m.3243A\>G | [A3243G\-F627 ](https://mitofam.com/doc/1168/)| Canada | MELAS syndrome with variable severity in one sibling kindred | 1 | 2 | 2020 | [32881886](https://pubmed.ncbi.nlm.nih.gov/32881886/) | Prospective pilot study in one MELAS sibling kindred; fourth screened MELAS sibling is G/H\-only. |
| 628 | 3243 | m.3243A\>G | A3243G\-F628 | Japan | MIDD; macular dystrophy/chorioretinal atrophy; diabetes; sensorineural hearing loss | 0 | 2 | 2021 | [33541179](https://pubmed.ncbi.nlm.nih.gov/33541179/) | Figure 1a pedigree reviewed. Only III\-4 has molecular m.3243A\>G evidence; II\-5 and II\-2 are clinical\-history relatives only. |
| 629 | 3243 | m.3243A\>G | A3243G\-F629 | Japan | Pediatric mitochondrial disease with m.3243A\>G; cardiomyopathy subset | 0 | 0 | 2021 | [34298071](https://pubmed.ncbi.nlm.nih.gov/34298071/) | / |
| 630 | 3243 | m.3243A\>G | A3243G\-F630 | Serbia | MELAS/mitochondrial encephalomyopathy due to A3243G | 0 | 0 | 2021 | [34829316](https://pubmed.ncbi.nlm.nih.gov/34829316/) | Independent Serbian proband; family history negative/undistinguished. |
| 631 | 3243 | m.3243A\>G | A3243G\-F631 | Serbia | MELAS/mitochondrial encephalomyopathy due to A3243G | 0 | 0 | 2021 | [34829316](https://pubmed.ncbi.nlm.nih.gov/34829316/) | Independent Serbian proband; family history negative/undistinguished. |
| 632 | 3243 | m.3243A\>G | A3243G\-F632 | India | Isolated mitochondrial myopathy due to m.3243A\>G | 0 | 0 | 2021 | [33484420](https://pubmed.ncbi.nlm.nih.gov/33484420/) | Original singleton case report; no family history and no tested relatives. |
| 633 | 3243 | m.3243A\>G | A3243G\-F633 | Japan | mitochondrial cardiomyopathy; hypertrophic cardiomyopathy | 0 | 0 | 2022 | [36053827](https://pubmed.ncbi.nlm.nih.gov/36053827/) | Pt1204; singleton/uninformative individual with skin fibroblast heteroplasmy. |
| 634 | 3243 | m.3243A\>G | A3243G\-F634 | Japan | MELAS | 0 | 0 | 2022 | [36053827](https://pubmed.ncbi.nlm.nih.gov/36053827/) | Pt0032; singleton/uninformative individual with skin fibroblast heteroplasmy. |
| 635 | 3243 | m.3243A\>G | A3243G\-F635 | Japan | MELAS | 0 | 0 | 2022 | [36053827](https://pubmed.ncbi.nlm.nih.gov/36053827/) | Pt1229; singleton/uninformative individual with blood positivity and skin fibroblast heteroplasmy. |
| 636 | 3243 | m.3243A\>G | A3243G\-F636 | Japan | MIDD; diabetes and deafness; acute lymphocytic leukemia also reported | 0 | 2 | 2022 | [36053827](https://pubmed.ncbi.nlm.nih.gov/36053827/) | Pt0482; non\-cancer MIDD features make the A3243G entry eligible. Family history supports G/H only. |
| 637 | 3243 | m.3243A\>G | A3243G\-F637 | Japan | MELAS | 0 | 3 | 2022 | [36053827](https://pubmed.ncbi.nlm.nih.gov/36053827/) | Pt0818; affected siblings support G/H only. Siblings are not carrier rows without target mtDNA testing. |
| 638 | 3243 | m.3243A\>G | A3243G\-F638 | Japan | Leigh syndrome | 0 | 0 | 2022 | [36053827](https://pubmed.ncbi.nlm.nih.gov/36053827/) | Pt0933; singleton/uninformative individual with skin fibroblast heteroplasmy. |
| 639 | 3243 | m.3243A\>G | A3243G\-F639 | Venezuela | MELAS syndrome | 0 | 0 | 2022 | [36130631](https://pubmed.ncbi.nlm.nih.gov/36130631/) | Paper subject label P1; mother urine negative. |
| 640 | 3243 | m.3243A\>G | A3243G\-F640 | Venezuela | MELAS syndrome | 0 | 0 | 2022 | [36130631](https://pubmed.ncbi.nlm.nih.gov/36130631/) | Venezuelan caseP2 relatives declined testing |
| 641 | 3243 | m.3243A\>G | A3243G\-F641 | Venezuela | MELAS syndrome | 0 | 0 | 2022 | [36130631](https://pubmed.ncbi.nlm.nih.gov/36130631/) | Venezuelan caseP3 mother/siblings buccal/urine negative |
| 642 | 3243 | m.3243A\>G | A3243G\-F642 | Portugal | Mitochondrial disease; m.3243A\>G/MT\-TL1 | 0 | 0 | 2024 | [38465286](https://pubmed.ncbi.nlm.nih.gov/38465286/) | P92 is directly named with m.3243A\>G and available muscle DNA; no exact load is reported in the supplied evidence. |
| 643 | 3243 | m.3243A\>G | A3243G\-F643 | Portugal | Mitochondrial disease; m.3243A\>G/MT\-TL1 | 0 | 0 | 2024 | [38465286](https://pubmed.ncbi.nlm.nih.gov/38465286/) | P93 is directly named as having m.3243A\>G detected in buccal mucosa. |
| 644 | 3243 | m.3243A\>G | A3243G\-F644 | Portugal | Mitochondrial disease; m.3243A\>G/MT\-TL1 | 0 | 0 | 2024 | [38465286](https://pubmed.ncbi.nlm.nih.gov/38465286/) | P95 is named in the m.3243A\>G discussion as a patient for whom kidney\-tissue load would be particularly relevant; no exact load is reported. |
| 645 | 3243 | m.3243A\>G | [A3243G\-F645](https://mitofam.com/doc/1169/) | China | MELAS/cardiomyopathy in a pedigree carrying m.3243A\>G and homoplasmic m.3290T\>C | 9 | 1 | 2025 | [40514671](https://pubmed.ncbi.nlm.nih.gov/40514671/) | Figure 1/Table 1 pedigree family; includes positive carriers and eligible negative\-tested maternal\-line branch stops. |
| 646 | 3243 | m.3243A\>G | A3243G\-F646 | Italy | MELAS\-spectrum syndrome (MSS) | 0 | 0 | 2025 | [40633301](https://pubmed.ncbi.nlm.nih.gov/40633301/) | Quantitative EEG cohort carrier; no pedigree/family mapping reported.; Progressive encephalopathy in m.3243A \> G/MT\-TL1 mutation carriers: a quantitative EEG analysis. |
| 647 | 3243 | m.3243A\>G | A3243G\-F647 | Italy | MELAS | 0 | 0 | 2025 | [40633301](https://pubmed.ncbi.nlm.nih.gov/40633301/) | Quantitative EEG cohort carrier; no pedigree/family mapping reported.; Progressive encephalopathy in m.3243A \> G/MT\-TL1 mutation carriers: a quantitative EEG analysis. |
| 648 | 3243 | m.3243A\>G | A3243G\-F648 | Italy | MELAS\-spectrum syndrome (MSS) | 0 | 0 | 2025 | [40633301](https://pubmed.ncbi.nlm.nih.gov/40633301/) | Quantitative EEG cohort carrier; no pedigree/family mapping reported.; Progressive encephalopathy in m.3243A \> G/MT\-TL1 mutation carriers: a quantitative EEG analysis. |
| 649 | 3243 | m.3243A\>G | A3243G\-F649 | Italy | MELAS | 0 | 0 | 2025 | [40633301](https://pubmed.ncbi.nlm.nih.gov/40633301/) | Quantitative EEG cohort carrier; no pedigree/family mapping reported.; Progressive encephalopathy in m.3243A \> G/MT\-TL1 mutation carriers: a quantitative EEG analysis. |
| 650 | 3243 | m.3243A\>G | A3243G\-F650 | Italy | MELAS | 0 | 0 | 2025 | [40633301](https://pubmed.ncbi.nlm.nih.gov/40633301/) | Quantitative EEG cohort carrier; no pedigree/family mapping reported.; Progressive encephalopathy in m.3243A \> G/MT\-TL1 mutation carriers: a quantitative EEG analysis. |
| 651 | 3243 | m.3243A\>G | A3243G\-F651 | Italy | MELAS\-spectrum syndrome (MSS) | 0 | 0 | 2025 | [40633301](https://pubmed.ncbi.nlm.nih.gov/40633301/) | Quantitative EEG cohort carrier; no pedigree/family mapping reported.; Progressive encephalopathy in m.3243A \> G/MT\-TL1 mutation carriers: a quantitative EEG analysis. |
| 652 | 3243 | m.3243A\>G | A3243G\-F652 | Italy | MELAS\-spectrum syndrome (MSS) | 0 | 0 | 2025 | [40633301](https://pubmed.ncbi.nlm.nih.gov/40633301/) | Quantitative EEG cohort carrier; no pedigree/family mapping reported.; Progressive encephalopathy in m.3243A \> G/MT\-TL1 mutation carriers: a quantitative EEG analysis. |
| 653 | 3243 | m.3243A\>G | A3243G\-F653 | Italy | MELAS | 0 | 0 | 2025 | [40633301](https://pubmed.ncbi.nlm.nih.gov/40633301/) | Quantitative EEG cohort carrier; no pedigree/family mapping reported.; Progressive encephalopathy in m.3243A \> G/MT\-TL1 mutation carriers: a quantitative EEG analysis. |
| 654 | 3243 | m.3243A\>G | A3243G\-F654 | Italy | MELAS\-spectrum syndrome (MSS) | 0 | 0 | 2025 | [40633301](https://pubmed.ncbi.nlm.nih.gov/40633301/) | Quantitative EEG cohort carrier; no pedigree/family mapping reported.; Progressive encephalopathy in m.3243A \> G/MT\-TL1 mutation carriers: a quantitative EEG analysis. |
| 655 | 3243 | m.3243A\>G | A3243G\-F655 | Italy | MELAS | 0 | 0 | 2025 | [40633301](https://pubmed.ncbi.nlm.nih.gov/40633301/) | Quantitative EEG cohort carrier; no pedigree/family mapping reported.; Progressive encephalopathy in m.3243A \> G/MT\-TL1 mutation carriers: a quantitative EEG analysis. |
| 656 | 3243 | m.3243A\>G | A3243G\-F656 | Italy | MELAS | 0 | 0 | 2025 | [40633301](https://pubmed.ncbi.nlm.nih.gov/40633301/) | Quantitative EEG cohort carrier; no pedigree/family mapping reported.; Progressive encephalopathy in m.3243A \> G/MT\-TL1 mutation carriers: a quantitative EEG analysis. |
| 657 | 3243 | m.3243A\>G | A3243G\-F657 | Italy | MELAS\-spectrum syndrome (MSS) | 0 | 0 | 2025 | [40633301](https://pubmed.ncbi.nlm.nih.gov/40633301/) | Quantitative EEG cohort carrier; no pedigree/family mapping reported.; Progressive encephalopathy in m.3243A \> G/MT\-TL1 mutation carriers: a quantitative EEG analysis. |
| 658 | 3243 | m.3243A\>G | A3243G\-F658 | Italy | MELAS\-spectrum syndrome (MSS) | 0 | 0 | 2025 | [40633301](https://pubmed.ncbi.nlm.nih.gov/40633301/) | Quantitative EEG cohort carrier; no pedigree/family mapping reported.; Progressive encephalopathy in m.3243A \> G/MT\-TL1 mutation carriers: a quantitative EEG analysis. |
| 659 | 3243 | m.3243A\>G | A3243G\-F659 | Italy | MELAS\-spectrum syndrome (MSS) | 0 | 0 | 2025 | [40633301](https://pubmed.ncbi.nlm.nih.gov/40633301/) | Quantitative EEG cohort carrier; no pedigree/family mapping reported.; Progressive encephalopathy in m.3243A \> G/MT\-TL1 mutation carriers: a quantitative EEG analysis. |
| 660 | 3243 | m.3243A\>G | A3243G\-F660 | Italy | MELAS\-spectrum syndrome (MSS) | 0 | 0 | 2025 | [40633301](https://pubmed.ncbi.nlm.nih.gov/40633301/) | Quantitative EEG cohort carrier; no pedigree/family mapping reported.; Progressive encephalopathy in m.3243A \> G/MT\-TL1 mutation carriers: a quantitative EEG analysis. |
| 661 | 3243 | m.3243A\>G | A3243G\-F661 | Italy | MELAS | 0 | 0 | 2025 | [40633301](https://pubmed.ncbi.nlm.nih.gov/40633301/) | Quantitative EEG cohort carrier; no pedigree/family mapping reported.; Progressive encephalopathy in m.3243A \> G/MT\-TL1 mutation carriers: a quantitative EEG analysis. |
| 662 | 3243 | m.3243A\>G | A3243G\-F662 | India | MELAS | 0 | 0 | 2026 | [41850596](https://pubmed.ncbi.nlm.nih.gov/41850596/) | Original subject label: MT\-28\. |

# **Carrier Information**

| **No.** | **Position** | **Variant** | **Family ID** | **Carrier ID** | **Type (Fam/De novo/Uninf)** | **Gender (F/M)** | **Proband (Y/N)** | **Affected (Y/N)** | **Die/Alive(D/A)** | **Age** | **Blood Mutant Level** | **Muscle Mutant level** | **Urine Mutant level** | **Other Mutant level** | **Clinical Features** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3243 | m.3243A\>G | A3243G\-F1 | A3243G\-F1\-P1 | Uninf | M | Y | Y | D | 13 | / | / | / | / | MELAS with weakness, seizures, dementia, short stature, vomiting, cortical blindness, hemiparesis, sensorineural hearing loss, lactic acidosis, cardiomyopathy; Died suddenly at age 14 | Patient 1 |
| 2 | 3243 | m.3243A\>G | A3243G\-F2 | A3243G\-F2\-P1 | Uninf | F | Y | Y | D | 18 | / | / | / | / | MELAS with headache, vomiting, weakness, seizures, dementia, short stature, hemiparesis, hemianopia, lactic acidosis, diabetes mellitus, hypertrophic cardiomyopathy; Died from heart failure at age 20 | Patient 2 |
| 3 | 3243 | m.3243A\>G | A3243G\-F3 | A3243G\-F3\-P1 | Fam | F | Y | Y | A | 7 | / | / | / | / | MELAS; Headache and vomiting from age 6, elevated CSF lactate/pyruvate, ragged\-red fibers in biceps biopsy | Case 1; Fig.3 lanes A/D |
| 4 | 3243 | m.3243A\>G | A3243G\-F4 | A3243G\-F4\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | MELAS diagnosed by clinical, biochemical, and histochemical analyses; Individual details not reported | Fig.3 lanes C and F map Case 2 to positive primary cultured myogenic cells and muscle specimen. |
| 5 | 3243 | m.3243A\>G | A3243G\-F5 | A3243G\-F5\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | MELAS diagnosed by clinical, biochemical, and histochemical analyses; Individual details not reported | Fig.3 lane E maps Case 3 to a positive muscle specimen. |
| 6 | 3243 | m.3243A\>G | A3243G\-F6 | A3243G\-F6\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | MELAS diagnosed by clinical, biochemical, and histochemical analyses; Individual details not reported | Fig.3 lane H maps Case 4 to a positive muscle specimen. |
| 7 | 3243 | m.3243A\>G | A3243G\-F7 | A3243G\-F7\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | MELAS diagnosed at National Children's Hospital; Individual details not reported | Fig.3 lane B maps Case 5 to positive primary cultured myogenic cells. |
| 8 | 3243 | m.3243A\>G | A3243G\-F8 | A3243G\-F8\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | MELAS diagnosed at Tsukuba University; Individual details not reported | Fig.3 lane G maps Case 6 to a positive muscle specimen. |
| 9 | 3243 | m.3243A\>G | A3243G\-F9 | A3243G\-F9\-P1 | Uninf | ND | ND | Y | ND | ND | / | 65% | / | / | MELAS patient; Muscle biopsy showed ragged\-red fibers | Case 1; Figure 4 lane 9 muscle: 65%. |
| 10 | 3243 | m.3243A\>G | A3243G\-F10 | A3243G\-F10\-P2 | Fam | F | ND | Y | A | 7 | 46% | / | / | 58%(Primary myogenic\-cell culture) | MELAS with headache, vomiting, cortical blindness, elevated serum and CSF lactate/pyruvate, and poor school performance | Case 2; Figure 4 lane 1 blood: 46%; lane 10 primary myogenic\-cell culture: 58%. |
| 11 | 3243 | m.3243A\>G | A3243G\-F11 | A3243G\-F11\-P3 | Uninf | ND | ND | Y | ND | ND | / | / | / | 98%(Primary myogenic\-cell culture) | MELAS patient; Muscle biopsy showed ragged\-red fibers | Case 3; Figure 4 lane 12 primary myogenic\-cell culture: 98%. |
| 12 | 3243 | m.3243A\>G | A3243G\-F12 | A3243G\-F12\-P4 | Uninf | ND | ND | Y | ND | ND | 48% | 77% | / | 65%(Primary myogenic\-cell culture) | MELAS patient; Muscle biopsy showed ragged\-red fibers | Case 4; Figure 4 lane 2 blood: 48%; lane 6 muscle: 77%; lane 11 primary myogenic\-cell culture: 65%. |
| 13 | 3243 | m.3243A\>G | A3243G\-F13 | A3243G\-F13\-P5 | Uninf | ND | ND | Y | ND | ND | / | 75% | / | / | MELAS patient; Muscle biopsy showed ragged\-red fibers | Case 5; Figure 4 lane 7 muscle: 75%. |
| 14 | 3243 | m.3243A\>G | A3243G\-F14 | A3243G\-F14\-P6 | Uninf | ND | ND | Y | ND | ND | / | 72% | / | / | MELAS patient; Muscle biopsy showed ragged\-red fibers | Case 6; Figure 4 lane 8 muscle: 72%. |
| 15 | 3243 | m.3243A\>G | A3243G\-F15 | A3243G\-F15\-P7 | Uninf | ND | ND | Y | ND | ND | 43% | / | / | / | MELAS patient; Muscle biopsy showed ragged\-red fibers | Case 7; Figure 4 lane 3 blood: 43%. |
| 16 | 3243 | m.3243A\>G | A3243G\-F16 | A3243G\-F16\-P8 | Uninf | ND | ND | Y | ND | ND | 48% | / | / | / | MELAS patient; Muscle biopsy showed ragged\-red fibers | Case 8; Figure 4 lane 4 blood: 48%. |
| 17 | 3243 | m.3243A\>G | A3243G\-F17 | A3243G\-F17\-P1 | Uninf | F | Y | Y | D | 18 at admission; died at 20 | / | / | / | / | MELAS with weakness, seizures, dementia, short stature, episodic vomiting, hemiparesis, hemianopia, lactic acidosis, diabetes mellitus, hypertrophic cardiomyopathy, ragged\-red fibers; Died from heart failure | Original label: Patient 1\. |
| 18 | 3243 | m.3243A\>G | A3243G\-F18 | A3243G\-F18\-P2 | Uninf | M | Y | Y | A | 13 | / | / | / | / | MELAS with weakness, seizures, dementia, short stature, episodic vomiting, cortical blindness, hemiparesis, sensorineural hearing loss, lactic acidosis, cardiomyopathy, ragged\-red fibers | Original label: Patient 2\. |
| 19 | 3243 | m.3243A\>G | A3243G\-F19 | A3243G\-F19\-P1 | Uninf | M | Y | Y | D | 26 | / | 88%; 83% | / | 79%(ND); 83%(ND); 84%(ND); 86%(ND) | MELAS with short stature, mild mental retardation, axonal polyneuropathy, homonymous hemianopia, seizures, aphasia, high lactate, bilateral sensorineural hearing loss, stroke\-like lesions, heart failure and pulmonary edema | / |
| 20 | 3243 | m.3243A\>G | A3243G\-F20 | A3243G\-F20\-II1 | Fam | F | N | Y | ND | 61 | 5\-30% | / | / | / | NIDDM onset 27; Sensorineural hearing loss | Blood A3243G reported in descendants from affected females; individual percentage not reported. |
| 21 | 3243 | m.3243A\>G | A3243G\-F20 | A3243G\-F20\-II2 | Fam | M | N | Y | ND | 60 | 5\-30% | / | / | / | NIDDM onset 42; Sensorineural hearing loss | Blood A3243G group range; his children are excluded because paternal transmission does not qualify. |
| 22 | 3243 | m.3243A\>G | A3243G\-F20 | A3243G\-F20\-II3 | Fam | M | N | Y | ND | 58 | 5\-30% | / | / | / | NIDDM onset 38; Sensorineural hearing loss | Blood A3243G group range; his children are excluded because paternal transmission does not qualify. |
| 23 | 3243 | m.3243A\>G | A3243G\-F20 | A3243G\-F20\-II4 | Fam | M | Y | Y | ND | 56 | 4% | 38% | / | 41%(F) | NIDDM onset 36; Sensorineural hearing loss; No ragged\-red fibers on muscle biopsy | Proband; specific loads are blood 4%, muscle 38%, fibroblasts 41%. |
| 24 | 3243 | m.3243A\>G | A3243G\-F20 | A3243G\-F20\-II5 | Fam | F | N | Y | ND | 55 | 5\-30% | / | / | / | NIDDM onset 37; Sensorineural hearing loss | Blood A3243G group range; female\-line descendants are included where shown. |
| 25 | 3243 | m.3243A\>G | A3243G\-F20 | A3243G\-F20\-II6 | Fam | F | N | Y | ND | 53 | 5\-30% | / | / | / | NIDDM onset 39; Sensorineural hearing loss | Blood A3243G group range; female\-line descendants are included where shown. |
| 26 | 3243 | m.3243A\>G | A3243G\-F20 | A3243G\-F20\-II7 | Fam | F | N | Y | ND | 51 | 5\-30% | / | / | / | NIDDM onset 40; Sensorineural hearing loss | Blood A3243G group range; female\-line descendants are included where shown. |
| 27 | 3243 | m.3243A\>G | A3243G\-F20 | A3243G\-F20\-II8 | Fam | F | N | Y | ND | 49 | 5\-30% | / | / | / | NIDDM onset 24; Sensorineural hearing loss | Blood A3243G group range; female\-line descendants are included where shown. |
| 28 | 3243 | m.3243A\>G | A3243G\-F20 | A3243G\-F20\-II9 | Fam | M | N | Y | ND | 46 | 5\-30% | / | / | / | NIDDM onset 32; Sensorineural hearing loss | Blood A3243G group range; his children are excluded because paternal transmission does not qualify. |
| 29 | 3243 | m.3243A\>G | A3243G\-F20 | A3243G\-F20\-III1 | Fam | M | N | Y | ND | 33 | 5\-30% | / | / | / | Sensorineural hearing loss; No NIDDM onset shown | Child of affected female II\-1; blood A3243G group range. |
| 30 | 3243 | m.3243A\>G | A3243G\-F20 | A3243G\-F20\-III2 | Fam | F | N | Y | ND | 31 | 5\-30% | / | / | / | NIDDM onset 20; Sensorineural hearing loss | Child of affected female II\-1; blood A3243G group range. |
| 31 | 3243 | m.3243A\>G | A3243G\-F20 | A3243G\-F20\-III3 | Fam | M | N | Y | ND | 28 | 5\-30% | / | / | / | NIDDM onset 22; Sensorineural hearing loss | Child of affected female II\-1; blood A3243G group range. |
| 32 | 3243 | m.3243A\>G | A3243G\-F20 | A3243G\-F20\-III13 | Fam | F | N | Y | ND | 31 | 5\-30% | / | / | / | Sensorineural hearing loss; No NIDDM onset shown | Child of affected female II\-5; blood A3243G group range. |
| 33 | 3243 | m.3243A\>G | A3243G\-F20 | A3243G\-F20\-III14 | Fam | F | N | Y | ND | 30 | 5\-30% | / | / | / | Sensorineural hearing loss; No NIDDM onset shown | Child of affected female II\-5; blood A3243G group range. |
| 34 | 3243 | m.3243A\>G | A3243G\-F20 | A3243G\-F20\-III15 | Fam | M | N | Y | ND | 24 | 5\-30% | / | / | / | No NIDDM or sensorineural hearing loss shown | Child of affected female II\-5; blood A3243G group range. |
| 35 | 3243 | m.3243A\>G | A3243G\-F20 | A3243G\-F20\-III16 | Fam | M | N | Y | ND | 27 | 5\-30% | / | / | / | No NIDDM or sensorineural hearing loss shown | Child of affected female II\-6; blood A3243G group range. |
| 36 | 3243 | m.3243A\>G | A3243G\-F20 | A3243G\-F20\-III17 | Fam | M | N | Y | ND | 25 | 5\-30% | / | / | / | Sensorineural hearing loss; No NIDDM onset shown | Child of affected female II\-6; blood A3243G group range. |
| 37 | 3243 | m.3243A\>G | A3243G\-F20 | A3243G\-F20\-III18 | Fam | F | N | Y | ND | 31 | 5\-30% | / | / | / | No NIDDM or sensorineural hearing loss shown | Child of affected female II\-7; blood A3243G group range. |
| 38 | 3243 | m.3243A\>G | A3243G\-F20 | A3243G\-F20\-III19 | Fam | M | N | Y | ND | 23 | 5\-30% | / | / | / | Sensorineural hearing loss; No NIDDM onset shown | Child of affected female II\-7; blood A3243G group range. |
| 39 | 3243 | m.3243A\>G | A3243G\-F20 | A3243G\-F20\-III20 | Fam | M | N | Y | ND | 19 | 5\-30% | / | / | / | No NIDDM or sensorineural hearing loss shown | Child of affected female II\-7; blood A3243G group range. |
| 40 | 3243 | m.3243A\>G | A3243G\-F20 | A3243G\-F20\-III21 | Fam | M | N | Y | ND | 33 | 5\-30% | / | / | / | No NIDDM or sensorineural hearing loss shown | Child of affected female II\-8; blood A3243G group range. |
| 41 | 3243 | m.3243A\>G | A3243G\-F20 | A3243G\-F20\-III22 | Fam | F | N | Y | ND | 22 | 5\-30% | / | / | / | Sensorineural hearing loss; No NIDDM onset shown | Child of affected female II\-8; blood A3243G group range. |
| 42 | 3243 | m.3243A\>G | A3243G\-F21 | A3243G\-F21\-P1 | Uninf | ND | ND | Y | ND | ND | / | 95% | / | / | Typical MELAS syndrome | Table 1: MELAS1, muscle 95%; muscle biopsy showed A3243G mutant mtDNA |
| 43 | 3243 | m.3243A\>G | A3243G\-F22 | A3243G\-F22\-P1 | Uninf | ND | ND | Y | ND | ND | / | 91% | / | / | Typical MELAS syndrome | Table 1: MELAS2, muscle 91%; muscle biopsy showed A3243G mutant mtDNA |
| 44 | 3243 | m.3243A\>G | A3243G\-F23 | A3243G\-F23\-P1 | Uninf | ND | ND | Y | ND | ND | / | 95% | / | / | Typical MELAS syndrome | Table 1: MELAS3, muscle 95%; muscle biopsy showed A3243G mutant mtDNA |
| 45 | 3243 | m.3243A\>G | A3243G\-F24 | A3243G\-F24\-P1 | Uninf | M | ND | Y | ND | 30 | / | 63% | / | / | Childhood\-onset PEO; Exercise intolerance; Limb weakness; Sensorineural hearing loss; Lactic acidosis | Table 1: MELAS4, muscle 63%; 30\-year\-old man. |
| 46 | 3243 | m.3243A\>G | A3243G\-F25 | A3243G\-F25\-P1 | Uninf | ND | ND | Y | ND | ND | / | 91% | / | / | Typical MELAS syndrome | Table 1: MELAS5, muscle 91%; muscle biopsy showed A3243G mutant mtDNA |
| 47 | 3243 | m.3243A\>G | A3243G\-F26 | A3243G\-F26\-P6 | Fam | F | ND | Y | ND | ND | / | 59% | / | / | Recurrent migraine headaches and mild lactic acidosis | Table 1: MELAS6, muscle 59%; mother of typical MELAS patient; Mother of a typical MELAS patient |
| 48 | 3243 | m.3243A\>G | A3243G\-F26 | A3243G\-F26\-P1 | Fam | ND | ND | Y | ND | ND | / | / | / | / | Typical MELAS | Child of MELAS6; molecular load not reported. |
| 49 | 3243 | m.3243A\>G | A3243G\-F27 | A3243G\-F27\-P1 | Uninf | ND | ND | Y | ND | ND | / | 91% | / | / | Typical MELAS syndrome | Table 1: MELAS7, muscle 91%; muscle biopsy showed A3243G mutant mtDNA |
| 50 | 3243 | m.3243A\>G | A3243G\-F28 | A3243G\-F28\-P1 | Uninf | M | ND | Y | ND | 25 | / | 25% | / | / | Developmental delay; Short stature; PEO; Seizures; Ataxia; Incomplete right bundle\-branch block; No RRF in muscle biopsy | Table 1: MELAS8, muscle 25%; 25\-year\-old man. |
| 51 | 3243 | m.3243A\>G | A3243G\-F29 | A3243G\-F29\-P1 | Fam | F | N | N | A | ND | 12% | / | / | / | Healthy | Fig.1 reports B12; Healthy |
| 52 | 3243 | m.3243A\>G | A3243G\-F29 | A3243G\-F29\-P2 | Fam | M | Y | Y | A | 20 | 50% | 73% | / | / | MELAS / mitochondrial encephalomyopathy with cardiomyopathy, seizures, dementia, short stature and stroke\-like features | Fig.1 reports M73/B50; Table identifies proband. |
| 53 | 3243 | m.3243A\>G | A3243G\-F30 | A3243G\-F30\-P1 | Fam | F | N | Y | A | ND | 10% | 82% | / | / | Short/slender mother with neuroendocrine/clinical manifestations | Fig.1 reports M82/B10\. |
| 54 | 3243 | m.3243A\>G | A3243G\-F30 | A3243G\-F30\-P2 | Fam | F | N | Y | A | 18 | 51% | 78% | / | / | Short stature, mental retardation, hearing difficulty, diabetes | Fig.1/Table reports sister M78/B51\. |
| 55 | 3243 | m.3243A\>G | A3243G\-F30 | A3243G\-F30\-P3 | Fam | F | Y | Y | A | 9 | 53% | 75% | / | / | MELAS; Seizures, mental retardation, muscle weakness, ptosis, ataxic gait | Fig.1/Table reports proband M75/B53\. |
| 56 | 3243 | m.3243A\>G | A3243G\-F31 | A3243G\-F31\-P1 | Fam | F | N | Y | A | ND | 18% | / | / | / | Short/slender maternal aunt with hearing difficulty | Fig.1 reports B18; Table MA. |
| 57 | 3243 | m.3243A\>G | A3243G\-F31 | A3243G\-F31\-P2 | Fam | F | N | Y | A | ND | 9% | / | / | / | Mother diagnosed with multiple sclerosis; Clinical mitochondrial features reported in family text | Fig.1 reports B9\. |
| 58 | 3243 | m.3243A\>G | A3243G\-F31 | A3243G\-F31\-P3 | Fam | M | Y | Y | A | 6 | 70% | 68% | / | / | MELAS; Seizures, quadriplegia, walking difficulty, vomiting, lactic acidosis | Fig.1 reports M68/B70\. |
| 59 | 3243 | m.3243A\>G | A3243G\-F32 | A3243G\-F32\-P1 | Fam | F | N | N | A | ND | 17% | / | / | / | Healthy | Fig.1 reports B17; Healthy |
| 60 | 3243 | m.3243A\>G | A3243G\-F32 | A3243G\-F32\-P2 | Fam | F | Y | Y | A | 8 | 58% | 84% | / | / | Atypical mitochondrial encephalomyopathy; Muscle weakness, hearing difficulty, cardiac failure; No stroke\-like episodes | Fig.1 reports M84/B58\. |
| 61 | 3243 | m.3243A\>G | A3243G\-F32 | A3243G\-F32\-P3 | Fam | M | N | N | A | ND | 0% | / | / | / | Healthy | Fig.1 reports B0; Healthy |
| 62 | 3243 | m.3243A\>G | A3243G\-F33 | A3243G\-F33\-P1 | Fam | ND | Y | Y | A | 21 | 50% | 73% | / | / | MELAS\-spectrum mitochondrial encephalomyopathy with cardiomyopathy, muscle weakness, seizures, dementia, short stature, episodic vomiting, cortical blindness, hemiparesis/hemianopsia, hearing loss, lactic acidosis, low CT density, RRF and SSV | Paper family 1 proband |
| 63 | 3243 | m.3243A\>G | A3243G\-F33 | A3243G\-F33\-P2 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | Paper family 1 mother; Healthy |
| 64 | 3243 | m.3243A\>G | A3243G\-F34 | A3243G\-F34\-P1 | Fam | ND | Y | Y | A | 22 | 53% | 75% | / | / | Atypical MELAS\-spectrum disease with ophthalmoplegia, muscle weakness, seizures, dementia, short stature, episodic vomiting, cortical blindness, hemiparesis/hemianopsia, lactic acidosis, low CT density and RRF | Paper family 2 proband |
| 65 | 3243 | m.3243A\>G | A3243G\-F34 | A3243G\-F34\-P2 | Fam | F | N | Y | A | 23 | 51% | 78% | / | / | Muscle weakness, dementia, short stature, hearing loss, lactic acidosis and SSV | Paper family 2 sister; Sister with |
| 66 | 3243 | m.3243A\>G | A3243G\-F34 | A3243G\-F34\-P3 | Fam | F | N | Y | A | 53 | 10% | 82% | / | / | Muscle weakness, dementia, short stature and lactic acidosis | Paper family 2 mother; Mother with |
| 67 | 3243 | m.3243A\>G | A3243G\-F35 | A3243G\-F35\-P1 | Fam | ND | Y | Y | A | 6 | 70% | 68% | / | / | Typical MELAS with muscle weakness, seizures, dementia, episodic vomiting, cortical blindness, hemiparesis/hemianopsia, hearing loss, lactic acidosis, low CT density and RRF | Paper family 3 proband |
| 68 | 3243 | m.3243A\>G | A3243G\-F35 | A3243G\-F35\-P2 | Fam | F | N | Y | A | 34 | 9% | / | / | / | Mother with clinical abnormalities in the family table, including dementia/short stature and lactic acidosis\-related findings. | Paper family 3 mother; Mother with clinical abnormalities in the family table, including dementia/short stature and lactic acidosis\-related findings |
| 69 | 3243 | m.3243A\>G | A3243G\-F35 | A3243G\-F35\-P3 | Fam | F | N | Y | A | 38 | 18% | / | / | / | Maternal aunt with clinical abnormalities in Table 1, including muscle weakness/short stature/hearing loss and lactic acidosis\-related findings. | Paper family 3 maternal relative; Maternal aunt with clinical abnormalities in Table 1, including muscle weakness/short stature/hearing loss and lactic acidosis\-related findings |
| 70 | 3243 | m.3243A\>G | A3243G\-F36 | A3243G\-F36\-P1 | Fam | ND | Y | Y | A | 12 | 58% | 84% | / | / | MELAS\-spectrum disease with cardiomyopathy, muscle weakness, dementia, short stature, episodic vomiting, cortical blindness, hearing loss, lactic acidosis and RRF | Paper family 4 proband |
| 71 | 3243 | m.3243A\>G | A3243G\-F36 | A3243G\-F36\-P2 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | Paper family 4 mother; Healthy |
| 72 | 3243 | m.3243A\>G | A3243G\-F37 | A3243G\-F37\-P1 | Fam | ND | Y | Y | A | 16 | 56% | / | / | / | MELAS\-spectrum disease with cardiomyopathy, seizures, dementia, cortical blindness, hemiparesis/hemianopsia, hearing loss, lactic acidosis, low CT density and RRF | Paper family 5 proband |
| 73 | 3243 | m.3243A\>G | A3243G\-F37 | A3243G\-F37\-P2 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | Paper family 5 sister; Healthy |
| 74 | 3243 | m.3243A\>G | A3243G\-F38 | A3243G\-F38\-P1 | Fam | ND | Y | Y | A | 11 | 28% | / | / | / | Typical MELAS\-spectrum disease with muscle weakness, seizures, dementia, short stature, episodic vomiting, cortical blindness, hemiparesis/hemianopsia, lactic acidosis, low CT density and RRF | Paper family 6 proband |
| 75 | 3243 | m.3243A\>G | A3243G\-F38 | A3243G\-F38\-P2 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | Paper family 6 mother; Healthy |
| 76 | 3243 | m.3243A\>G | A3243G\-F38 | A3243G\-F38\-P3 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | Paper family 6 sister; Healthy |
| 77 | 3243 | m.3243A\>G | A3243G\-F39 | A3243G\-F39\-P1 | Fam | F | Y | Y | ND | ND | 58% | / | / | / | MELAS | Case 1 patient/proband; lymphocyte mutant mtDNA 58%. |
| 78 | 3243 | m.3243A\>G | A3243G\-F39 | A3243G\-F39\-P2 | Fam | F | N | N | ND | ND | 1\.5% | / | / | / | Healthy | Case 1 mother; lymphocyte mutant mtDNA 1\.5%; Healthy |
| 79 | 3243 | m.3243A\>G | A3243G\-F39 | A3243G\-F39\-P3 | Fam | F | N | N | ND | ND | 7\.1% | / | / | / | Healthy | Case 1 asymptomatic sister; lymphocyte mutant mtDNA 7\.1%; Healthy |
| 80 | 3243 | m.3243A\>G | A3243G\-F40 | A3243G\-F40\-P1 | Fam | F | Y | Y | ND | ND | 62% | / | / | / | MELAS | Case 2 patient/proband; lymphocyte mutant mtDNA 62%. |
| 81 | 3243 | m.3243A\>G | A3243G\-F40 | A3243G\-F40\-P2 | Fam | F | N | N | ND | ND | 8\.5% | / | / | / | Healthy | Case 2 mother; lymphocyte mutant mtDNA 8\.5%; Healthy |
| 82 | 3243 | m.3243A\>G | A3243G\-F40 | A3243G\-F40\-P3 | Fam | M | N | N | ND | ND | 28% | / | / | / | Healthy | Case 2 asymptomatic brother; lymphocyte mutant mtDNA 28%; Healthy |
| 83 | 3243 | m.3243A\>G | A3243G\-F41 | A3243G\-F41\-P1 | Fam | ND | Y | Y | ND | ND | 50% | / | / | / | MELAS | Case 3 patient/proband; lymphocyte mutant mtDNA 50%. |
| 84 | 3243 | m.3243A\>G | A3243G\-F41 | A3243G\-F41\-P2 | Fam | F | N | N | ND | ND | 7\.9% | / | / | / | Healthy | Case 3 mother; lymphocyte mutant mtDNA 7\.9%; Healthy |
| 85 | 3243 | m.3243A\>G | A3243G\-F42 | A3243G\-F42\-P1 | Uninf | ND | Y | Y | ND | ND | 55% | / | / | / | MELAS | Case 4 patient. |
| 86 | 3243 | m.3243A\>G | A3243G\-F43 | A3243G\-F43\-II2 | Fam | F | Y | Y | A | 33 | / | \>50% | / | / | MELAS with generalized seizures, exercise intolerance, encephalopathic spells with headache, flashing lights, myoclonus, transient neurologic deficits, sensorineural deafness, mild intellectual impairment, proximal weakness, lactic acidosis and RRF | Nicotinamide/riboflavin treatment; withdrawal relapse. |
| 87 | 3243 | m.3243A\>G | A3243G\-F43 | A3243G\-F43\-I1 | Uninf | F | N | Y | A | 70 | / | / | / | / | Sensorineural deafness; Otherwise normal clinically; Abnormal exercise MRS in family study | / |
| 88 | 3243 | m.3243A\>G | A3243G\-F43 | A3243G\-F43\-II1 | Fam | F | N | Y | D | 41 | / | / | / | / | Deafness, short stature, myopathy, dementia, pigmentary retinopathy, axonal neuropathy, cerebellar ataxia, hallucinations, seizures and large parieto\-occipital infarction | Died before molecular examination. |
| 89 | 3243 | m.3243A\>G | A3243G\-F44 | A3243G\-F44\-P1 | Uninf | M | Y | Y | A | 21 | / | / | / | / | Hypertrophic cardiomyopathy with Wolff\-Parkinson\-White syndrome, palpitations, dyspnea on exertion, short stature, slight mental retardation, and sensorineural deafness | Patient 2; right ventricular endomyocardial biopsy; no family history of heart disease. |
| 90 | 3243 | m.3243A\>G | A3243G\-F45 | A3243G\-F45\-P1 | Fam | F | Y | Y | D | 54 | / | / | / | / | Hypertrophic cardiomyopathy, diabetes mellitus and heart failure for 20 years, second\-degree atrioventricular block with pacemaker, diabetic nephropathy, sudden cardiac arrest | Patient 6; insulin injections; permanent pacemaker. |
| 91 | 3243 | m.3243A\>G | A3243G\-F46 | A3243G\-F46\-P1 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | Figure 1 hatched symbol; qualitative blood ASO evidence, no numeric heteroplasmy reported; Healthy |
| 92 | 3243 | m.3243A\>G | A3243G\-F46 | A3243G\-F46\-P2 | Fam | F | Y | Y | A | ND | / | / | / | / | MELAS patient | Figure 1 black symbol; caption states muscle sample for Individual8; no numeric heteroplasmy reported. |
| 93 | 3243 | m.3243A\>G | A3243G\-F46 | A3243G\-F46\-P3 | Fam | M | N | N | A | ND | / | / | / | / | Healthy | Figure 1 hatched symbol; qualitative blood ASO evidence, no numeric heteroplasmy reported; Healthy |
| 94 | 3243 | m.3243A\>G | A3243G\-F47 | A3243G\-F47\-P1 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | Figure 1 hatched symbol; qualitative blood ASO evidence, no numeric heteroplasmy reported; Healthy |
| 95 | 3243 | m.3243A\>G | A3243G\-F47 | A3243G\-F47\-P2 | Fam | M | Y | Y | A | ND | / | / | / | / | MELAS patient | Figure 1 black symbol; qualitative blood ASO evidence, no numeric heteroplasmy reported. |
| 96 | 3243 | m.3243A\>G | A3243G\-F47 | A3243G\-F47\-P3 | Fam | F | Y | Y | A | ND | / | / | / | / | MELAS patient | Figure 1 black symbol; qualitative blood ASO evidence, no numeric heteroplasmy reported. |
| 97 | 3243 | m.3243A\>G | A3243G\-F48 | A3243G\-F48\-P1 | Fam | F | N | N | A | ND | 0% | / | / | / | Healthy | Figure 1 open symbol with WT\-only ASO result; included as eligible negative\-tested child because the branch independently satisfies the mother\-level rule through positive siblings Individuals15 and 16; Healthy |
| 98 | 3243 | m.3243A\>G | A3243G\-F48 | A3243G\-F48\-P2 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | Figure 1 hatched symbol; qualitative blood ASO evidence, no numeric heteroplasmy reported; Healthy |
| 99 | 3243 | m.3243A\>G | A3243G\-F48 | A3243G\-F48\-P3 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | Figure 1 hatched symbol; qualitative blood ASO evidence, no numeric heteroplasmy reported; Healthy |
| 100 | 3243 | m.3243A\>G | A3243G\-F48 | A3243G\-F48\-P4 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | Figure 1 hatched symbol; qualitative blood ASO evidence, no numeric heteroplasmy reported; Healthy |
| 101 | 3243 | m.3243A\>G | A3243G\-F48 | A3243G\-F48\-P5 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | Figure 1 hatched symbol; qualitative blood ASO evidence, no numeric heteroplasmy reported; Healthy |
| 102 | 3243 | m.3243A\>G | A3243G\-F48 | A3243G\-F48\-P6 | Fam | M | Y | Y | A | ND | / | / | / | / | MELAS patient | Figure 1 black symbol; qualitative blood ASO evidence, no numeric heteroplasmy reported. |
| 103 | 3243 | m.3243A\>G | A3243G\-F49 | A3243G\-F49\-P1 | Fam | F | N | N | ND | 55 | 14% | 78% | / | / | Healthy | Fig.2/Table2 patient35; Asymptomatic relative |
| 104 | 3243 | m.3243A\>G | A3243G\-F49 | A3243G\-F49\-P2 | Fam | F | N | N | ND | 26 | 14% | / | / | / | Healthy | Fig.2/Table2 patient36; Asymptomatic relative |
| 105 | 3243 | m.3243A\>G | A3243G\-F49 | A3243G\-F49\-P3 | Fam | F | N | N | ND | ND | / | / | / | / | Healthy | No molecular testing in child; included because mother A\-II1 has confirmed mutation load and child phenotype is explicitly shown in Fig.2; Unaffected/open\-symbol child |
| 106 | 3243 | m.3243A\>G | A3243G\-F49 | A3243G\-F49\-P4 | Fam | M | N | N | ND | ND | / | / | / | / | Healthy | No molecular testing in child; included because mother A\-II1 has confirmed mutation load and child phenotype is explicitly shown in Fig.2; Unaffected/open\-symbol child |
| 107 | 3243 | m.3243A\>G | A3243G\-F49 | A3243G\-F49\-P5 | Fam | F | N | Y | ND | 20 | 42% | / | / | / | Oligosymptomatic relative | Fig.2/Table2 patient25\. |
| 108 | 3243 | m.3243A\>G | A3243G\-F49 | A3243G\-F49\-P6 | Fam | F | Y | Y | ND | 45 | 24% | 59% | / | / | MELAS | Table1 patient1; Fig.2 A\-II3\. |
| 109 | 3243 | m.3243A\>G | A3243G\-F49 | A3243G\-F49\-P7 | Fam | M | N | N | ND | ND | / | / | / | / | Healthy | No molecular testing in child; included because mother A\-II3 has confirmed mutation load and child phenotype is explicitly shown in Fig.2; Unaffected/open\-symbol child |
| 110 | 3243 | m.3243A\>G | A3243G\-F49 | A3243G\-F49\-P8 | Fam | F | N | Y | ND | ND | / | / | / | / | Oligosymptomatic shaded\-symbol child | No molecular testing in child; included because mother A\-II3 has confirmed mutation load and child phenotype is explicitly shown in Fig.2\. |
| 111 | 3243 | m.3243A\>G | A3243G\-F49 | A3243G\-F49\-P9 | Fam | M | Y | Y | ND | 54 | / | 75% | / | / | MELAS | Table1 patient2; Fig.2 A\-II5\. |
| 112 | 3243 | m.3243A\>G | A3243G\-F50 | A3243G\-F50\-P1 | Fam | F | N | N | ND | 64 | 0 | 55% | / | / | Healthy | Fig.2/Table2 patient41; blood negative but branch has independent positive descendants; Asymptomatic relative |
| 113 | 3243 | m.3243A\>G | A3243G\-F50 | A3243G\-F50\-P2 | Fam | M | N | N | ND | 41 | 30% | 53% | / | / | Healthy | Fig.2/Table2 patient37; Asymptomatic relative |
| 114 | 3243 | m.3243A\>G | A3243G\-F50 | A3243G\-F50\-P3 | Fam | F | N | N | ND | 39 | 40% | 78% | / | / | Healthy | Fig.2/Table2 patient38; Asymptomatic relative |
| 115 | 3243 | m.3243A\>G | A3243G\-F50 | A3243G\-F50\-P4 | Fam | M | Y | Y | ND | 48 | 75% | 94% | / | / | MELAS | Table1 patient3; Fig.2 B\-III4\. |
| 116 | 3243 | m.3243A\>G | A3243G\-F50 | A3243G\-F50\-P5 | Fam | F | N | Y | ND | 14 | 69% | / | / | / | Oligosymptomatic relative | Fig.2/Table2 patient26\. |
| 117 | 3243 | m.3243A\>G | A3243G\-F50 | A3243G\-F50\-P6 | Fam | F | N | N | ND | 30 | 28% | / | / | / | Healthy | Fig.2/Table2 patient39; Asymptomatic relative |
| 118 | 3243 | m.3243A\>G | A3243G\-F50 | A3243G\-F50\-P7 | Fam | M | N | N | ND | ND | / | / | / | / | Healthy | No molecular testing in child; included because mother B\-II5 has confirmed mutation load and child phenotype is explicitly shown in Fig.2; Unaffected/open\-symbol child |
| 119 | 3243 | m.3243A\>G | A3243G\-F50 | A3243G\-F50\-P8 | Fam | M | N | N | ND | ND | / | / | / | / | Healthy | No molecular testing in child; included because mother B\-II5 has confirmed mutation load and child phenotype is explicitly shown in Fig.2; Unaffected/open\-symbol child |
| 120 | 3243 | m.3243A\>G | A3243G\-F50 | A3243G\-F50\-P9 | Fam | M | N | N | ND | ND | / | / | / | / | Healthy | No molecular testing in child; included because mother B\-II5 has confirmed mutation load and child phenotype is explicitly shown in Fig.2; Unaffected/open\-symbol child |
| 121 | 3243 | m.3243A\>G | A3243G\-F50 | A3243G\-F50\-P10 | Fam | F | N | N | ND | 25 | 52% | 74% | / | / | Healthy | Fig.2/Table2 patient40; Asymptomatic relative |
| 122 | 3243 | m.3243A\>G | A3243G\-F51 | A3243G\-F51\-P1 | Fam | F | N | Y | ND | 46 | / | 75% | / | / | Oligosymptomatic relative | Fig.2/Table2 patient27\. |
| 123 | 3243 | m.3243A\>G | A3243G\-F51 | A3243G\-F51\-P2 | Fam | M | Y | Y | ND | 16 | / | 94% | / | / | MELAS | Table1 patient4; Fig.2 C\-II1\. |
| 124 | 3243 | m.3243A\>G | A3243G\-F51 | A3243G\-F51\-P3 | Fam | M | N | N | ND | 12 | / | 82% | / | / | Healthy | Fig.2/Table2 patient42; Asymptomatic relative |
| 125 | 3243 | m.3243A\>G | A3243G\-F52 | A3243G\-F52\-P1 | Fam | F | N | N | ND | 27 | 28% | 49% | / | / | Healthy | Fig.2/Table2 patient43; Asymptomatic relative |
| 126 | 3243 | m.3243A\>G | A3243G\-F52 | A3243G\-F52\-P2 | Fam | M | N | N | ND | ND | / | / | / | / | Healthy | No molecular testing in child; included because mother D\-I1 has confirmed mutation load and child phenotype is explicitly shown in Fig.2; Unaffected/open\-symbol child |
| 127 | 3243 | m.3243A\>G | A3243G\-F52 | A3243G\-F52\-P3 | Fam | F | Y | Y | ND | 6 | 81% | 93% | / | / | MELAS | Table1 patient8; Fig.2 D\-II2\. |
| 128 | 3243 | m.3243A\>G | A3243G\-F52 | A3243G\-F52\-P4 | Fam | M | N | N | ND | ND | / | / | / | / | Healthy | No molecular testing in child; included because mother D\-I1 has confirmed mutation load and child phenotype is explicitly shown in Fig.2; Unaffected/open\-symbol child |
| 129 | 3243 | m.3243A\>G | A3243G\-F52 | A3243G\-F52\-P5 | Fam | F | N | N | ND | ND | / | / | / | / | Healthy | No molecular testing in child; included because mother D\-I1 has confirmed mutation load and child phenotype is explicitly shown in Fig.2; Unaffected/open\-symbol child |
| 130 | 3243 | m.3243A\>G | A3243G\-F52 | A3243G\-F52\-P6 | Fam | F | Y | Y | D | 3 | 85% | 95% | / | / | MELAS | Table1 patient9; Fig.2 D\-II5; died at age 4 per text. |
| 131 | 3243 | m.3243A\>G | A3243G\-F53 | A3243G\-F53\-P1 | Fam | F | N | Y | ND | 69 | 14% | 62% | / | / | Oligosymptomatic relative | Fig.2/Table2 patient29; Fig.2 muscle label appears close to 57%, Table2 gives 62%. |
| 132 | 3243 | m.3243A\>G | A3243G\-F53 | A3243G\-F53\-P2 | Fam | F | Y | Y | ND | 46 | 43% | 87% | / | / | MELAS | Table1 patient20; Fig.2 E\-III1\. |
| 133 | 3243 | m.3243A\>G | A3243G\-F53 | A3243G\-F53\-P3 | Fam | M | N | Y | ND | ND | / | / | / | / | Oligosymptomatic shaded\-symbol child | No molecular testing in child; included because mother E\-II2 has confirmed mutation load and child phenotype is explicitly shown in Fig.2\. |
| 134 | 3243 | m.3243A\>G | A3243G\-F53 | A3243G\-F53\-P4 | Fam | M | N | N | ND | 38 | 0 | / | / | / | Healthy | Fig.2/Table2 patient45; son of patient29 and half\-brother of patient20; blood not detected; Asymptomatic relative |
| 135 | 3243 | m.3243A\>G | A3243G\-F53 | A3243G\-F53\-P5 | Fam | M | N | N | ND | ND | 0 | / | / | / | Healthy | Fig.2 child of target\-positive mother E\-III1; B\=ND; Unaffected/open\-symbol child |
| 136 | 3243 | m.3243A\>G | A3243G\-F53 | A3243G\-F53\-P6 | Fam | F | N | N | ND | ND | 0 | / | / | / | Healthy | Fig.2 child of target\-positive mother E\-III1; B\=ND; Unaffected/open\-symbol child |
| 137 | 3243 | m.3243A\>G | A3243G\-F53 | A3243G\-F53\-P7 | Fam | F | N | N | ND | ND | / | / | / | / | Healthy | No molecular testing in child; included because mother E\-III1 has confirmed mutation load and child phenotype is explicitly shown in Fig.2; Unaffected/open\-symbol child |
| 138 | 3243 | m.3243A\>G | A3243G\-F53 | A3243G\-F53\-P8 | Fam | F | N | Y | ND | 59 | 28% | 72% | / | / | Oligosymptomatic relative | Fig.2/Table2 patient31\. |
| 139 | 3243 | m.3243A\>G | A3243G\-F53 | A3243G\-F53\-P9 | Fam | M | N | Y | ND | 38 | 22% | / | / | / | Oligosymptomatic relative | Fig.2/Table2 patient32\. |
| 140 | 3243 | m.3243A\>G | A3243G\-F53 | A3243G\-F53\-P10 | Fam | F | N | N | ND | ND | / | / | / | / | Healthy | No molecular testing in child; included because mother E\-II6 has confirmed mutation load and child phenotype is explicitly shown in Fig.2; Unaffected/open\-symbol child |
| 141 | 3243 | m.3243A\>G | A3243G\-F53 | A3243G\-F53\-P11 | Fam | M | N | N | ND | 31 | 17% | 28% | / | / | Healthy | Fig.2/Table2 patient44; Asymptomatic relative |
| 142 | 3243 | m.3243A\>G | A3243G\-F53 | A3243G\-F53\-P12 | Fam | F | N | Y | ND | 32 | 28% | 65% | / | / | Oligosymptomatic relative | Fig.2/Table2 patient30\. |
| 143 | 3243 | m.3243A\>G | A3243G\-F54 | A3243G\-F54\-P1 | Fam | F | Y | Y | ND | 38 | / | 92% | / | / | MELAS | Table1 patient16\. |
| 144 | 3243 | m.3243A\>G | A3243G\-F54 | A3243G\-F54\-P2 | Fam | F | N | Y | ND | 30 | / | 89% | / | / | Oligosymptomatic sister | Table2 patient24; text identifies the remaining non\-figure relative as one sister. |
| 145 | 3243 | m.3243A\>G | A3243G\-F55 | A3243G\-F55\-P1 | Fam | F | N | N | ND | 47 | 14% | / | / | / | Healthy | Table2 patient28; one of three non\-figure mothers; Asymptomatic mother |
| 146 | 3243 | m.3243A\>G | A3243G\-F55 | A3243G\-F55\-P2 | Fam | F | Y | Y | ND | 13 | 59% | 91% | / | / | MELAS | Table1 patient18\. |
| 147 | 3243 | m.3243A\>G | A3243G\-F56 | A3243G\-F56\-P1 | Fam | F | N | N | ND | ND | 24% | / | / | / | Healthy | Table2 patient48; one of three non\-figure mothers; Asymptomatic mother |
| 148 | 3243 | m.3243A\>G | A3243G\-F56 | A3243G\-F56\-P2 | Fam | F | Y | Y | ND | 8 | / | 87% | / | / | MELAS | Table1 patient11\. |
| 149 | 3243 | m.3243A\>G | A3243G\-F57 | A3243G\-F57\-P1 | Fam | M | Y | Y | ND | 39 | / | 87% | / | / | Oligosymptomatic relative | Table2 patient33; clinical relative count\-only. |
| 150 | 3243 | m.3243A\>G | A3243G\-F58 | A3243G\-F58\-P1 | Fam | M | Y | Y | ND | 4 | / | 64% | / | / | Oligosymptomatic relative | Table2 patient34; clinical relative count\-only. |
| 151 | 3243 | m.3243A\>G | A3243G\-F59 | A3243G\-F59\-P1 | Fam | F | N | N | ND | ND | / | 33% | / | / | Healthy | Table2 patient47; related clinically typical MELAS person had no available tissue; Asymptomatic target\-positive mother |
| 152 | 3243 | m.3243A\>G | A3243G\-F60 | A3243G\-F60\-P1 | Uninf | M | Y | Y | D | 26 at death | / | 94% | / | / | MELAS | Table 1 patient 5; unrelated singleton for entry purposes. |
| 153 | 3243 | m.3243A\>G | A3243G\-F61 | A3243G\-F61\-P1 | Uninf | F | Y | Y | ND | 13 | / | 93% | / | / | MELAS | Table 1 patient 6; unrelated singleton for entry purposes. |
| 154 | 3243 | m.3243A\>G | A3243G\-F62 | A3243G\-F62\-P1 | Uninf | F | Y | Y | ND | 11 | 61% | / | / | / | MELAS | Table 1 patient 7; unrelated singleton for entry purposes. |
| 155 | 3243 | m.3243A\>G | A3243G\-F63 | A3243G\-F63\-P1 | Uninf | M | Y | Y | ND | 25 | / | 93% | / | / | MELAS | Table 1 patient 10; unrelated singleton for entry purposes. |
| 156 | 3243 | m.3243A\>G | A3243G\-F64 | A3243G\-F64\-P1 | Uninf | M | Y | Y | ND | 11 | / | 88% | / | / | MELAS | Table 1 patient 12; unrelated singleton for entry purposes. |
| 157 | 3243 | m.3243A\>G | A3243G\-F65 | A3243G\-F65\-P1 | Uninf | M | Y | Y | ND | 5 | / | 94% | / | / | MELAS | Table 1 patient 13; unrelated singleton for entry purposes. |
| 158 | 3243 | m.3243A\>G | A3243G\-F66 | A3243G\-F66\-P1 | Uninf | F | Y | Y | ND | 35 | / | 79% | / | / | MELAS | Table 1 patient 14; unrelated singleton for entry purposes. |
| 159 | 3243 | m.3243A\>G | A3243G\-F67 | A3243G\-F67\-P1 | Uninf | M | Y | Y | ND | 24 | / | 56% | / | / | MELAS | Table 1 patient 15; unrelated singleton for entry purposes. |
| 160 | 3243 | m.3243A\>G | A3243G\-F68 | A3243G\-F68\-P1 | Uninf | M | Y | Y | ND | 30 | / | 75% | / | / | MELAS | Table 1 patient 17; unrelated singleton for entry purposes. |
| 161 | 3243 | m.3243A\>G | A3243G\-F69 | A3243G\-F69\-P1 | Uninf | M | Y | Y | ND | 50 | / | 78% | / | / | MELAS | Table 1 patient 19; unrelated singleton for entry purposes. |
| 162 | 3243 | m.3243A\>G | A3243G\-F70 | A3243G\-F70\-P1 | Uninf | F | Y | Y | ND | 17 | / | 77% | / | / | MELAS | Table 1 patient 21; unrelated singleton for entry purposes. |
| 163 | 3243 | m.3243A\>G | A3243G\-F71 | A3243G\-F71\-P1 | Fam | M | Y | Y | ND | 30 | 43% | 72% | / | / | PEO, sensorineural deafness, weakness, exercise intolerance | Table4 patient1\. |
| 164 | 3243 | m.3243A\>G | A3243G\-F71 | A3243G\-F71\-P2 | Fam | F | N | Y | ND | ND | 26% | / | / | / | PEO, deafness, mild weakness | Mother of Table4 patient1\. |
| 165 | 3243 | m.3243A\>G | A3243G\-F72 | A3243G\-F72\-P1 | Uninf | F | Y | Y | ND | 23 | / | 85% | / | / | Seizures, myoclonus, mental deterioration, hearing loss | Table4 patient2\. |
| 166 | 3243 | m.3243A\>G | A3243G\-F73 | A3243G\-F73\-P1 | Uninf | M | Y | Y | ND | 11 | / | 84% | / | / | Seizures, myoclonus, ptosis, short stature, dementia, exercise intolerance | Table4 patient3\. |
| 167 | 3243 | m.3243A\>G | A3243G\-F74 | A3243G\-F74\-P1 | Uninf | F | Y | Y | ND | 15 | / | 80% | / | / | Delayed milestones, short stature, recurrent vomiting, dementia, pigmentary retinopathy, weakness, cardiomyopathy | Table4 patient4\. |
| 168 | 3243 | m.3243A\>G | A3243G\-F75 | A3243G\-F75\-P1 | Uninf | M | Y | Y | ND | 25 | 28% | 32% | / | / | Developmental delay, short stature, slight mental retardation, PEO, seizures, mild ataxia, right bundle\-branch block | Table4 patient5\. |
| 169 | 3243 | m.3243A\>G | A3243G\-F76 | A3243G\-F76\-P1 | Uninf | F | Y | Y | D | 27 | / | / | / | 22%(ND); 95%(ND) | MELAS with short stature, primary amenorrhea, episodic vomiting/headache, homonymous hemianopsia, convulsions, intellectual decline, generalized muscular atrophy, sensory disturbance, hypophyseal dysfunction, ragged\-red fibers | / |
| 170 | 3243 | m.3243A\>G | A3243G\-F77 | A3243G\-F77\-P1 | Uninf | F | Y | Y | A | 41 | / | / | / | / | MELAS masquerading as HSE; Sensorineural hearing loss; Seizures; Temporal stroke\-like lesions; Elevated lactate; Aphasia | / |
| 171 | 3243 | m.3243A\>G | A3243G\-F78 | A3243G\-F78\-P1 | Uninf | M | Y | Y | A | 44 | / | / | / | / | MELAS masquerading as HSE; Sensorineural hearing loss; Seizures; Peripheral neuropathy; Muscle fatigue; RRF; Elevated lactate; Aphasia and cortical blindness | / |
| 172 | 3243 | m.3243A\>G | A3243G\-F79 | A3243G\-F79\-P1 | Uninf | F | Y | Y | A | 16 | / | / | / | / | MELAS masquerading as HSE; Headaches; Confusion; Visual difficulties; Seizures; Basal ganglia calcification; Elevated lactate; RRF | / |
| 173 | 3243 | m.3243A\>G | A3243G\-F80 | A3243G\-F80\-P1 | Uninf | F | Y | Y | D | 23 | / | 77% | / | 27%(ND); 78%(ND) | MELAS with recurrent abdominal symptoms, seizures, right homonymous hemianopia, dementia, deafness, dysphasia, spastic and ataxic gait, sensorimotor axonal peripheral neuropathy; Died of bronchopneumonia | Case 1 |
| 174 | 3243 | m.3243A\>G | A3243G\-F81 | A3243G\-F81\-P1 | Uninf | F | Y | Y | A | 42 | / | / | / | / | Overlapping MERRF/MELAS with episodic headache, status epilepticus, left hemiparesis, lactic acidosis, bilateral progressive sensorineural hearing loss, myoclonus, ataxia, ragged\-red fibers and fluctuating CT lesion | / |
| 175 | 3243 | m.3243A\>G | A3243G\-F82 | A3243G\-F82\-P1 | Uninf | M | Y | Y | A | 15 | / | 70% | / | / | MELAS with visual disturbance, optic atrophy, hearing impairment, continuous partial epilepsy, right hemiparesis, stroke\-like episodes, short stature, lactic acidosis, ragged\-red fibers, severe external ophthalmoplegia and mild bilateral ptosis | / |
| 176 | 3243 | m.3243A\>G | A3243G\-F83 | A3243G\-F83\-P1 | Uninf | M | Y | Y | D | 22 | / | / | / | / | KSS/MELAS/MERRF overlap; Ragged red fibers; Ataxia; Seizures/stroke\-like episodes; Ophthalmologic and mitochondrial pathology | Case 1 |
| 177 | 3243 | m.3243A\>G | A3243G\-F84 | A3243G\-F84\-P1 | Uninf | M | Y | Y | D | 38 | / | / | / | / | MELAS with overlap features; Progressive sensorineural hearing loss; Stroke\-like episodes; Myoclonus; Pigmentary retinopathy | Case 2 |
| 178 | 3243 | m.3243A\>G | A3243G\-F85 | A3243G\-F85\-P1 | Uninf | F | ND | Y | ND | 24 | / | 61% | / | / | PEO 3243 non\-MELAS patient; Muscle biopsy positive | Table 1 A3243G\-positive patient; do not merge with another patient unless an explicit relationship is stated. |
| 179 | 3243 | m.3243A\>G | A3243G\-F86 | A3243G\-F86\-P1 | Uninf | F | ND | Y | ND | 38 | / | 51% | / | / | PEO 3243 non\-MELAS patient; Muscle biopsy positive | Table 1 A3243G\-positive patient; do not merge with another patient unless an explicit relationship is stated. |
| 180 | 3243 | m.3243A\>G | A3243G\-F87 | A3243G\-F87\-P1 | Uninf | M | ND | Y | ND | 14 | / | 78% | / | / | PEO 3243 non\-MELAS patient; Muscle biopsy positive | Table 1 A3243G\-positive patient; do not merge with another patient unless an explicit relationship is stated. |
| 181 | 3243 | m.3243A\>G | A3243G\-F88 | A3243G\-F88\-P1 | Uninf | M | ND | Y | ND | 17 | / | 67% | / | / | PEO 3243 non\-MELAS patient; Muscle biopsy positive | Table 1 A3243G\-positive patient; do not merge with another patient unless an explicit relationship is stated. |
| 182 | 3243 | m.3243A\>G | A3243G\-F89 | A3243G\-F89\-P1 | Uninf | M | ND | Y | ND | 30 | / | 37% | / | / | PEO 3243 non\-MELAS patient; Muscle biopsy positive | Table 1 A3243G\-positive patient; do not merge with another patient unless an explicit relationship is stated. |
| 183 | 3243 | m.3243A\>G | A3243G\-F90 | A3243G\-F90\-P1 | Uninf | M | ND | Y | ND | 25 | / | 36% | / | / | PEO 3243 non\-MELAS patient; Muscle biopsy positive | Table 1 A3243G\-positive patient; do not merge with another patient unless an explicit relationship is stated. |
| 184 | 3243 | m.3243A\>G | A3243G\-F91 | A3243G\-F91\-P1 | Uninf | M | ND | Y | ND | 44 | / | 73% | / | / | Proximal limb weakness, deafness, diabetes, RRF and lactic acidosis; No seizures reported | Table 1 A3243G\-positive patient; do not merge with another patient unless an explicit relationship is stated; Non\-PEO A3243G patient with |
| 185 | 3243 | m.3243A\>G | A3243G\-F92 | A3243G\-F92\-P1 | Uninf | M | ND | Y | ND | 48 | / | 69% | / | / | PEO 3243 non\-MELAS patient; Muscle biopsy positive | Table 1 A3243G\-positive patient; do not merge with another patient unless an explicit relationship is stated. |
| 186 | 3243 | m.3243A\>G | A3243G\-F93 | A3243G\-F93\-P1 | Uninf | F | ND | Y | ND | 30 | / | 40% | / | / | PEO 3243 non\-MELAS patient; Muscle biopsy positive | Table 1 A3243G\-positive patient; do not merge with another patient unless an explicit relationship is stated. |
| 187 | 3243 | m.3243A\>G | A3243G\-F94 | A3243G\-F94\-P1 | Uninf | M | ND | Y | ND | 15 | / | 71% | / | / | PEO 3243 non\-MELAS patient; Muscle biopsy positive | Table 1 A3243G\-positive patient; do not merge with another patient unless an explicit relationship is stated. |
| 188 | 3243 | m.3243A\>G | A3243G\-F95 | A3243G\-F95\-P1 | Uninf | M | ND | Y | ND | 60 | / | 51% | / | / | PEO 3243 non\-MELAS patient; Muscle biopsy positive | Table 1 A3243G\-positive patient; do not merge with another patient unless an explicit relationship is stated. |
| 189 | 3243 | m.3243A\>G | A3243G\-F96 | A3243G\-F96\-P1 | Uninf | F | ND | Y | ND | 19 | / | 72% | / | / | PEO 3243 non\-MELAS patient; Muscle biopsy positive | Table 1 A3243G\-positive patient; do not merge with another patient unless an explicit relationship is stated. |
| 190 | 3243 | m.3243A\>G | A3243G\-F97 | A3243G\-F97\-I1 | Uninf | F | ND | Y | ND | 40 | / | 50% | / | / | Non\-MELAS patient with PEO, retinopathy and hearing loss | Table 1 A3243G\-positive patient; do not merge with another patient unless an explicit relationship is stated. Patients 13 and 14 are mother/son and are grouped in one maternal family; mother of patient 14 |
| 191 | 3243 | m.3243A\>G | A3243G\-F97 | A3243G\-F97\-II1 | Fam | M | ND | Y | ND | ND | 69% | / | / | / | Developmental delay, limb weakness, retinopathy and lactic acidosis | Table 1 A3243G\-positive patient; do not merge with another patient unless an explicit relationship is stated. Patients 13 and 14 are mother/son and are grouped in one maternal family; Patient 14: A3243G detected in white blood cells (69%); son of patient 13 |
| 192 | 3243 | m.3243A\>G | A3243G\-F98 | A3243G\-F98\-P1 | Uninf | F | ND | Y | ND | 32 | / | 51% | / | / | PEO 3243 non\-MELAS patient; Muscle biopsy positive | Table 1 A3243G\-positive patient; do not merge with another patient unless an explicit relationship is stated. |
| 193 | 3243 | m.3243A\>G | A3243G\-F99 | A3243G\-F99\-P1 | Uninf | M | ND | Y | ND | 43 | / | 40% | / | / | PEO 3243 non\-MELAS patient; Muscle biopsy positive | Table 1 A3243G\-positive patient; do not merge with another patient unless an explicit relationship is stated. |
| 194 | 3243 | m.3243A\>G | A3243G\-F100 | A3243G\-F100\-P1 | Uninf | F | ND | Y | ND | 28 | / | 80% | / | / | PEO 3243 non\-MELAS patient; Muscle biopsy positive | Table 1 A3243G\-positive patient; do not merge with another patient unless an explicit relationship is stated. |
| 195 | 3243 | m.3243A\>G | A3243G\-F101 | A3243G\-F101\-P1 | Uninf | F | ND | Y | ND | 18 | / | 63% | / | / | PEO 3243 non\-MELAS patient; Muscle biopsy positive | Table 1 A3243G\-positive patient; do not merge with another patient unless an explicit relationship is stated. |
| 196 | 3243 | m.3243A\>G | A3243G\-F102 | A3243G\-F102\-P1 | Uninf | F | ND | Y | ND | 15 | / | 80% | / | / | Developmental delay, limb weakness, retinopathy and lactic acidosis | Table 1 A3243G\-positive patient; do not merge with another patient unless an explicit relationship is stated; Non\-PEO A3243G patient with |
| 197 | 3243 | m.3243A\>G | A3243G\-F103 | A3243G\-F103\-P1 | Uninf | F | ND | Y | ND | 23 | / | 85% | / | / | Proximal limb weakness, seizures, deafness, diabetes, RRF and lactic acidosis | Table 1 A3243G\-positive patient; do not merge with another patient unless an explicit relationship is stated; Non\-PEO A3243G patient with |
| 198 | 3243 | m.3243A\>G | A3243G\-F104 | A3243G\-F104\-P1 | Uninf | M | ND | Y | ND | 11 | / | 84% | / | / | Ptosis, limb weakness, seizures, lactic acidosis and RRF | Table 1 A3243G\-positive patient; do not merge with another patient unless an explicit relationship is stated; Non\-PEO A3243G patient with |
| 199 | 3243 | m.3243A\>G | A3243G\-F105 | A3243G\-F105\-II2 | Fam | F | N | Y | A | 69 | 14% | 57% | / | / | Sensorineural hearing loss, proximal muscle weakness, retinal pigmentary degeneration, menstrual irregularities, and NIDDM | Mother of proband; Case 2; Fig.2 M\=57%, B\=14%. |
| 200 | 3243 | m.3243A\>G | A3243G\-F105 | A3243G\-F105\-III1 | Fam | F | Y | Y | A | 46 | 43% | 87% | / | / | Sensorineural hearing loss, retinal degeneration, migraine, primary amenorrhea, Wernicke aphasia/stroke\-like episode, elevated lactate, RRFs, and seizures | Case 1; solid proband in Fig.2; highest mutation percentage. |
| 201 | 3243 | m.3243A\>G | A3243G\-F105 | A3243G\-F105\-III4 | Fam | M | N | N | A | 38 | 0% | / | / | / | Healthy | Half\-brother sharing target\-positive mother II\-2; blood mutation not detected. Eligible negative\-tested maternal\-line row; branch stop for descendants; Healthy |
| 202 | 3243 | m.3243A\>G | A3243G\-F105 | A3243G\-F105\-II6 | Fam | F | N | Y | A | 59 | 28% | 72% | / | / | Progressive hearing loss, retinal pigmentary degeneration, menstrual irregularities, elevated lactate, basal ganglia calcification, and RRFs | Case 4 maternal aunt; Fig.2 labels the measured individual as II\-6 with M\=72%, B\=28%. |
| 203 | 3243 | m.3243A\>G | A3243G\-F105 | A3243G\-F105\-III8 | Fam | M | N | Y | A | 38 | 22% | / | / | / | Sensorineural hearing loss, severe migrainelike headaches, retinal pigmentary degeneration, and mild proximal upper\-extremity weakness | Case 5; Fig.2 shows B\=22%; no muscle biopsy was performed. |
| 204 | 3243 | m.3243A\>G | A3243G\-F105 | A3243G\-F105\-III10 | Fam | M | N | N | A | 31 | 17% | 28% | / | / | Healthy | Case 6; Fig.2 M\=28%, B\=17%; Healthy |
| 205 | 3243 | m.3243A\>G | A3243G\-F105 | A3243G\-F105\-III11 | Fam | F | N | Y | A | 32 | 28% | 65% | / | / | Cataracts, progressive sensorineural hearing loss, primary amenorrhea, short stature, retinal pigmentary degeneration, and RRFs | Case 3 maternal cousin; Fig.2 M\=65%, B\=28%. |
| 206 | 3243 | m.3243A\>G | A3243G\-F106 | A3243G\-F106\-II2 | Fam | F | N | Y | A | ND | / | / | / | / | Type 2 diabetes and mild sensorineural hearing loss | Restriction analysis by ApaI/HaeIII was negative in blood, but allele\-specific mismatch priming yielded a very faint band in II2\. |
| 207 | 3243 | m.3243A\>G | A3243G\-F106 | A3243G\-F106\-III1 | Fam | M | ND | Y | A | 43 | / | / | / | / | Deafness, insulin\-dependent diabetes, hemiparesis, hypertrophic cardiomyopathy, and myocardial infarction | Fig.2 lane III1 blood supports heteroplasmic A3243G; no numerical percentage is provided. |
| 208 | 3243 | m.3243A\>G | A3243G\-F106 | A3243G\-F106\-III2 | Fam | M | ND | Y | D | 42 | / | / | / | / | Progressive dementia, insulin\-dependent diabetes, stroke\-like episodes, seizures, ragged\-red fibers, and massive hypertrophic cardiomyopathy | Fig.2 lanes III2 blood and III2 muscle support heteroplasmic A3243G; died at age 42 from cardiac failure. |
| 209 | 3243 | m.3243A\>G | A3243G\-F106 | A3243G\-F106\-III3 | Fam | F | ND | Y | A | 38 | / | / | / | / | Mild hearing loss and glucose imbalance treatable with diet | Fig.2 lane III3 blood supports heteroplasmic A3243G; no numerical percentage is provided. |
| 210 | 3243 | m.3243A\>G | A3243G\-F106 | A3243G\-F106\-IV1 | Fam | M | N | N | A | 15 | / | / | / | / | Healthy | Son of III3; text states the 15\-year\-old healthy boy carries a relatively high amount of mutant mtDNA in blood cells |
| 211 | 3243 | m.3243A\>G | A3243G\-F107 | A3243G\-F107\-P1 | Uninf | F | Y | Y | D | 22 | / | 77% | / | 80%(Cardiac muscle); 86%(Cerebrum); 81%(Cerebellum); 79%(Liver); 76%(Kidney); 81%(Pancreas); 26%(Spleen); 45%(Lung) | MELAS with short stature from age 5, episodic vomiting, focal seizures and hemiparesis with headache from age 9, mild hypertrophic cardiomyopathy with Wolff\-Parkinson\-White syndrome, elevated lactate in plasma and CSF, ragged\-red fibers and complex I decrease | Autopsy tissue distribution paper; Table 1 tissue mapping: skeletal muscle 77%, cardiac muscle 80%, cerebrum 86%, cerebellum 81%, liver 79%, kidney 76%, pancreas 81%, spleen 26%, lung 45%. |
| 212 | 3243 | m.3243A\>G | A3243G\-F108 | A3243G\-F108\-III1 | Fam | F | N | Y | A | 35 | 17% | 46% | / | / | Short stature/high blood pressure; Otherwise healthy | Figure 2 exact bar percentages. |
| 213 | 3243 | m.3243A\>G | A3243G\-F108 | A3243G\-F108\-IV1 | Fam | M | N | N | A | 17 | \<2% | / | / | / | Healthy | Figure 2 exact bar percentage; Healthy |
| 214 | 3243 | m.3243A\>G | A3243G\-F108 | A3243G\-F108\-IV2 | Fam | F | N | N | A | 12 | 8% | / | / | / | Healthy | Figure 2 exact bar percentage; Healthy |
| 215 | 3243 | m.3243A\>G | A3243G\-F108 | A3243G\-F108\-IV3 | Fam | M | N | N | D | 3 weeks | / | / | / | \<2%(ND); \<2%(ND) | Premature infant; Died of respiratory distress and intracerebral haematoma | Figure 2 exact bar percentages; no MELAS signs reported. |
| 216 | 3243 | m.3243A\>G | A3243G\-F108 | A3243G\-F108\-III3 | Fam | F | N | Y | A | 32 | 14% | 71% | / | / | Mild lactacidemia | Figure 2 exact bar percentages; insulin\-dependent diabetes since second pregnancy |
| 217 | 3243 | m.3243A\>G | A3243G\-F108 | A3243G\-F108\-IV4 | Fam | F | Y | Y | D | 5 yr at death | / | 94% | / | 97%(ND); 97%(ND); 96%(ND); 90%(ND) | Index case; Severe MELAS with feeding problems, floppiness, muscle jerks, epilepsy, severe ataxia, speech difficulties, lactic acidosis, ragged\-red fibers and brain atrophy; Died age 5 | Figure 2 exact bar percentages. |
| 218 | 3243 | m.3243A\>G | A3243G\-F108 | A3243G\-F108\-IV5 | Fam | M | N | Y | A | 2 months | 75% | 50% | / | 73%(ND); 56%(ND) | Dysmorphic infant with anus atresia, club feet and small cardiac septal defect; Lactacidemia/signs reported; No neurologic problems at age 2 months | Figure 2 exact bar percentages; placenta had the highest load. |
| 219 | 3243 | m.3243A\>G | A3243G\-F109 | A3243G\-F109\-II3 | Fam | F | N | Y | D | 70 | 18% | / | / | / | NIDDM; Hearing impairment not recalled; Alzheimer disease reported | Leukocyte A3243G 18% in Fig.3; mother of F254 proband. |
| 220 | 3243 | m.3243A\>G | A3243G\-F109 | A3243G\-F109\-III2 | Fam | F | Y | Y | A | 49 | 36% | / | / | / | NIDDM and sensorineural hearing loss; Diabetes at 40 yr; Hearing loss at 20 yr | F254 proband; leukocyte A3243G 36% in Fig.3\. |
| 221 | 3243 | m.3243A\>G | A3243G\-F109 | A3243G\-F109\-III3 | Fam | M | N | Y | A | 47 | / | / | / | / | Exact component not text\-specified | Fig.2 MIDD phenotype symbol |
| 222 | 3243 | m.3243A\>G | A3243G\-F109 | A3243G\-F109\-III5 | Fam | M | N | Y | A | 44 | 18% | / | / | / | NIDDM and deafness phenotype symbol | Leukocyte A3243G 18% in Fig.3\. |
| 223 | 3243 | m.3243A\>G | A3243G\-F109 | A3243G\-F109\-III8 | Fam | F | N | Y | A | 41 | / | / | / | / | Exact component not text\-specified | Fig.2 MIDD phenotype symbol |
| 224 | 3243 | m.3243A\>G | A3243G\-F109 | A3243G\-F109\-IV1 | Fam | F | N | Y | A | 24 | / | / | / | / | Fig.2 phenotype symbol, consistent with hearing loss only | Fig.2 phenotype symbol, consistent with hearing loss only |
| 225 | 3243 | m.3243A\>G | A3243G\-F110 | A3243G\-F110\-II2 | Fam | F | N | Y | D | 80 | 18% | / | / | / | NIDDM and deafness phenotype symbol | Leukocyte A3243G 18% in Fig.3; mother in pedigree S. |
| 226 | 3243 | m.3243A\>G | A3243G\-F110 | A3243G\-F110\-III2 | Fam | F | N | Y | A | 58 | 28% | / | / | / | NIDDM and deafness phenotype symbol | Leukocyte A3243G 28% in Fig.3\. |
| 227 | 3243 | m.3243A\>G | A3243G\-F110 | A3243G\-F110\-III4 | Fam | F | Y | Y | A | 54 | 25% | / | / | / | NIDDM and deafness; Diabetes since 31 yr; Hearing aid | S proband; leukocyte A3243G 25% in Fig.3\. |
| 228 | 3243 | m.3243A\>G | A3243G\-F111 | A3243G\-F111\-P1 | Uninf | ND | Y | Y | ND | 28 | / | 71% | / | / | PEO, moderate proximal weakness, hearing loss, heart conduction problems, exercise intolerance, headache, RRF in muscle biopsy | Patient W; onset age 18 |
| 229 | 3243 | m.3243A\>G | A3243G\-F112 | A3243G\-F112\-P1 | Uninf | ND | Y | Y | ND | 40 | / | 79% | / | / | PEO, proximal weakness, hearing loss, mild diabetes, retinopathy and RRF | Patient H; onset age \<10 years |
| 230 | 3243 | m.3243A\>G | A3243G\-F113 | A3243G\-F113\-P1 | Uninf | ND | Y | Y | ND | 13 | / | 86% | / | / | MELAS; Age of onset 10; Symptoms fulfilled diagnostic criteria for MELAS | Patient K; patient 1 in ref.13/patient 6 in ref.17; onset age 10 years |
| 231 | 3243 | m.3243A\>G | A3243G\-F114 | A3243G\-F114\-III3 | Fam | F | N | Y | ND | ND | 33% | / | / | / | Stroke\-like episodes; Dementia; Cardiac/GI/endocrine manifestations | Table reports target A3243G mutant load for this pedigree subject. |
| 232 | 3243 | m.3243A\>G | A3243G\-F114 | A3243G\-F114\-III6 | Fam | M | N | Y | ND | ND | 16% | / | / | / | Learning difficulties; Peripheral neuropathy; Exercise intolerance; GI problems; Gynecomastia | Table reports target A3243G mutant load for this pedigree subject. |
| 233 | 3243 | m.3243A\>G | A3243G\-F114 | A3243G\-F114\-IV5 | Fam | F | N | Y | ND | ND | 8% | / | / | / | Peripheral neuropathy, migraines, GI problems, myopathy/weakness | Table reports target A3243G mutant load for this pedigree subject; Maternal aunt |
| 234 | 3243 | m.3243A\>G | A3243G\-F114 | A3243G\-F114\-IV7 | Fam | F | N | Y | ND | ND | 26% | / | / | / | Dementia, learning difficulties, migraines, myopathy/weakness, exercise intolerance, GI/endocrine manifestations | Table reports target A3243G mutant load for this pedigree subject; Mother of proband |
| 235 | 3243 | m.3243A\>G | A3243G\-F114 | A3243G\-F114\-IV9 | Fam | M | N | Y | ND | ND | 32% | / | / | / | Maternal great\-uncle; Subject\-specific clinical features not fully tabulated | Table reports target A3243G mutant load for this pedigree subject; mutation\-positive blood sample |
| 236 | 3243 | m.3243A\>G | A3243G\-F114 | A3243G\-F114\-V2 | Fam | ND | N | Y | ND | ND | 16% | / | / | / | Maternal first cousin; Learning difficulties, migraines, exercise intolerance, GI problems, obesity | Table reports target A3243G mutant load for this pedigree subject. |
| 237 | 3243 | m.3243A\>G | A3243G\-F114 | A3243G\-F114\-V3 | Fam | ND | N | Y | ND | ND | 24% | / | / | / | Maternal first cousin; Migraines, myopathy/weakness, exercise intolerance, reactive airway disease/allergies | Table reports target A3243G mutant load for this pedigree subject. |
| 238 | 3243 | m.3243A\>G | A3243G\-F114 | A3243G\-F114\-V4 | Fam | M | Y | Y | ND | 14 | 36% | / | / | / | Proband; Typical MELAS with hearing loss, dementia, stroke\-like episode, short stature, RRF and lactic acidosis | Table reports target A3243G mutant load for this pedigree subject. |
| 239 | 3243 | m.3243A\>G | A3243G\-F114 | A3243G\-F114\-V5 | Fam | F | N | Y | ND | ND | / | / | / | 47%(ND) | Proband's sister; Seizures, learning difficulties, migraines, myopathy/weakness, exercise intolerance, cardiac and GI problems | Table reports target A3243G mutant load for this pedigree subject. |
| 240 | 3243 | m.3243A\>G | A3243G\-F115 | A3243G\-F115\-P1 | Uninf | M | Y | Y | ND | 54 | / | / | / | / | MELAS with migraine, cerebellar ataxia, stroke\-like episodes and deafness | Patient 18\. |
| 241 | 3243 | m.3243A\>G | A3243G\-F116 | A3243G\-F116\-P1 | Uninf | M | Y | Y | ND | 47 | / | / | / | / | CPEO/MELAS overlap; Ophthalmoplegia, ptosis, heart block, lactic acidosis, stroke\-like episode | Patient 19; deceased mother had ptosis and heart block but no A3243G molecular result. |
| 242 | 3243 | m.3243A\>G | A3243G\-F117 | A3243G\-F117\-P1 | Fam | M | N | Y | ND | 39 | / | / | / | / | Mild isolated deafness | Patient 20; same pedigree as patient 21; detailed pedigree published elsewhere, not in this PDF; fourth\-generation member of a pedigree |
| 243 | 3243 | m.3243A\>G | A3243G\-F117 | A3243G\-F117\-P2 | Fam | F | N | Y | ND | 34 | / | / | / | / | Mild isolated deafness | Patient 21; same pedigree as patient 20 |
| 244 | 3243 | m.3243A\>G | A3243G\-F118 | A3243G\-F118\-III4 | Fam | M | Y | Y | A | 49 | / | / | / | / | NIDDM with bilateral nerve deafness; No MELAS neurological features reported | Index case III.4\. |
| 245 | 3243 | m.3243A\>G | A3243G\-F118 | A3243G\-F118\-III2 | Fam | F | N | Y | A | 60 | / | / | / | / | NIDDM and gradual hearing loss; Hearing aid in right ear | Original subject III.2\. |
| 246 | 3243 | m.3243A\>G | A3243G\-F118 | A3243G\-F118\-III3 | Fam | M | N | Y | D | ND | / | / | / | / | Diabetes in sixth decade and gradual hearing loss; Died of myocardial infarction | Original subject III.3; died of myocardial infarction. |
| 247 | 3243 | m.3243A\>G | A3243G\-F118 | A3243G\-F118\-III6 | Fam | M | N | Y | A | 50 | / | / | / | / | Bilateral high\-pitch hearing loss; OGTT within NIDDM criteria | Original subject III.6\. |
| 248 | 3243 | m.3243A\>G | A3243G\-F118 | A3243G\-F118\-IV6 | Fam | F | N | Y | A | 29 | / | / | / | / | Gestational diabetes mellitus during recent pregnancy. | Original subject IV.6; gestational diabetes |
| 249 | 3243 | m.3243A\>G | A3243G\-F118 | A3243G\-F118\-IV4 | Fam | F | N | Y | A | 38 | / | / | / | / | Fatigue, muscle weakness, occasional limb pain, abnormal glucose tolerance, occasional ragged\-red fibers | Original subject IV.4\. |
| 250 | 3243 | m.3243A\>G | A3243G\-F118 | A3243G\-F118\-V9 | Fam | M | N | N | A | 16 | / | / | / | / | Healthy | Original subject V.9; Healthy |
| 251 | 3243 | m.3243A\>G | A3243G\-F119 | A3243G\-F119\-II2 | Uninf | F | Y | Y | A | 32 | 25% | 40% | / | 40%(F) | Severe mitochondrial myopathy with early fatigability, progressive muscle weakness, epileptic seizures, elevated lactate, many ragged\-red fibers, and leukoencephalopathy; No strokelike episodes reported | Female twin II\-2; Southern blot/PCR detected A3243G in muscle, blood, and skin fibroblasts. Male twin II\-1 and mother were negative in tested tissues. |
| 252 | 3243 | m.3243A\>G | A3243G\-F120 | A3243G\-F120\-P1 | Uninf | F | Y | Y | A | 7; 20 follow\-up | / | 78%; 25% | / | / | Mitochondrial myopathy with childhood proximal muscle weakness, fatigue, ragged\-red fibers, elevated lactate/pyruvate, no stroke\-like episodes, gradual improvement by age 20 | Two biceps muscle biopsies showed marked decrease in A3243G mutant genomes from 78% to 25% over 12\.5 years. |
| 253 | 3243 | m.3243A\>G | A3243G\-F121 | A3243G\-F121\-II1 | Fam | F | N | Y | A | ND | 22% | / | / | / | Deafness alone | Fig.1 II.1 |
| 254 | 3243 | m.3243A\>G | A3243G\-F121 | A3243G\-F121\-II2 | Fam | F | N | Y | D | 42 | / | 56% | / | 49%(ND); 4%(ND); 4%(ND); 55%(ND); 3%(ND); 29%(ND) | Cardiomyopathy and lactic acidosis; Died suddenly at age 42 | Fig.1 II.2; necropsy tissues tested |
| 255 | 3243 | m.3243A\>G | A3243G\-F121 | A3243G\-F121\-III3 | Fam | F | N | N | A | ND | 19% | / | / | / | Healthy | Fig.1 III.3; Healthy |
| 256 | 3243 | m.3243A\>G | A3243G\-F121 | A3243G\-F121\-III4 | Fam | M | Y | Y | D | 13 | / | / | / | 67%(ND) | MELAS | Fig.1 III.4 |
| 257 | 3243 | m.3243A\>G | A3243G\-F121 | A3243G\-F121\-III5 | Fam | F | N | Y | A | ND | 39% | 65% | / | 52%(ND); 48%(ND); 51%(ND) | Short stature, deafness, and myopathy | Fig.1 III.5; mother of the stillborn fetus |
| 258 | 3243 | m.3243A\>G | A3243G\-F121 | A3243G\-F121\-IV1 | Fam | M | N | N | D | 24 gestational weeks | / | 55% | / | 51%(ND); 52%(ND); 51%(ND); 54%(ND); 53%(ND); 52%(ND); 56%(ND); 55%(ND); 53%(ND) | 24\-week stillborn fetus; Pathology did not show signs of mitochondrial disease | Fig.1 IV.1; fetus of III.5 |
| 259 | 3243 | m.3243A\>G | A3243G\-F122 | A3243G\-F122\-I2 | Uninf | F | N | Y | A | 50 | 6% | 22% | / | 20%(ND) | Ragged\-red fibers in muscle | / |
| 260 | 3243 | m.3243A\>G | A3243G\-F122 | A3243G\-F122\-II1 | Fam | F | N | Y | A | 29 | 3% | 21% | / | 9%(ND) | Headache | / |
| 261 | 3243 | m.3243A\>G | A3243G\-F122 | A3243G\-F122\-II3 | Fam | M | N | Y | A | 25 | 25% | 45% | / | 30%(ND); 38%(ND) | Ragged\-red fibers in muscle; Small testes/secondary sexual findings | Positive male does not transmit mtDNA eligibility to III3\. |
| 262 | 3243 | m.3243A\>G | A3243G\-F122 | A3243G\-F122\-II4 | Fam | F | N | Y | A | 23 | 33% | 48% | / | 26%(ND) | Hearing impairment, visual abnormality and frequent miscarriages | / |
| 263 | 3243 | m.3243A\>G | A3243G\-F122 | A3243G\-F122\-II5 | Fam | M | Y | Y | A | 17 | / | 89% | / | / | MELAS with short stature, headache, vomiting, hearing impairment, visual abnormality, seizure, lactic acidosis and hemiparesis | / |
| 264 | 3243 | m.3243A\>G | A3243G\-F122 | A3243G\-F122\-III1 | Fam | F | N | N | A | 7 | 18% | / | / | 34%(ND) | Healthy | Healthy |
| 265 | 3243 | m.3243A\>G | A3243G\-F122 | A3243G\-F122\-III2 | Fam | F | N | N | A | 3 | 0% | / | / | 0%(ND) | Healthy | Healthy |
| 266 | 3243 | m.3243A\>G | A3243G\-F123 | A3243G\-F123\-II6 | Fam | ND | N | ND | ND | ND | 40% | / | / | / | ND | Fig. 2 lymphocyte/blood A3243G load; Affected maternal relative; exact features coded in pedigree |
| 267 | 3243 | m.3243A\>G | A3243G\-F123 | A3243G\-F123\-II7 | Fam | ND | N | ND | ND | ND | 11% | / | / | / | ND | Fig. 2 lymphocyte/blood A3243G load; Affected maternal relative; exact features coded in pedigree |
| 268 | 3243 | m.3243A\>G | A3243G\-F123 | A3243G\-F123\-II9 | Fam | ND | N | ND | ND | ND | 11% | / | / | / | ND | Fig. 2 lymphocyte/blood A3243G load; Affected maternal relative; exact features coded in pedigree |
| 269 | 3243 | m.3243A\>G | A3243G\-F123 | A3243G\-F123\-III13 | Fam | M | Y | Y | ND | ND | 31% | / | / | / | Sensorineural hearing loss; Diabetes mellitus from age 36; Severe concentric hypertrophic cardiomyopathy at 44; Migraine\-like headaches; General weakness | Referred patient/proband; A3243G was shown in skeletal muscle and leukocytes; Fig. 2 gives leukocyte/blood load 31%. |
| 270 | 3243 | m.3243A\>G | A3243G\-F123 | A3243G\-F123\-III16 | Fam | ND | N | Y | ND | ND | / | / | / | / | Affected maternal relative. | Text lists III\-16 as A3243G\-positive in circulating leukocytes; Fig. 2 percent is nd; Affected maternal relative |
| 271 | 3243 | m.3243A\>G | A3243G\-F123 | A3243G\-F123\-III18 | Fam | ND | N | Y | ND | ND | / | / | / | / | Affected maternal relative. | Text lists III\-18 as A3243G\-positive in circulating leukocytes; Fig. 2 percent is nd; Affected maternal relative |
| 272 | 3243 | m.3243A\>G | A3243G\-F123 | A3243G\-F123\-III23 | Fam | ND | N | ND | ND | ND | 27% | / | / | / | ND | Fig. 2 lymphocyte/blood A3243G load; Affected maternal relative; exact features coded in pedigree |
| 273 | 3243 | m.3243A\>G | A3243G\-F123 | A3243G\-F123\-III25 | Fam | ND | N | N | ND | ND | 0 | / | / | / | Healthy | Negative\-tested maternal\-line record; only blood/leukocytes tested; Unaffected obligate carrier; A3243G not detected in circulating leukocytes |
| 274 | 3243 | m.3243A\>G | A3243G\-F123 | A3243G\-F123\-III26 | Fam | ND | N | Y | ND | ND | 24% | / | / | / | Ataxia and cerebellar atrophy are reported for one generation III subject in the family text | Fig. 2 lymphocyte/blood A3243G load; Affected maternal relative |
| 275 | 3243 | m.3243A\>G | A3243G\-F123 | A3243G\-F123\-III36 | Fam | ND | N | ND | ND | ND | 26% | / | / | / | ND | Fig. 2 lymphocyte/blood A3243G load; Affected maternal relative; exact features coded in pedigree |
| 276 | 3243 | m.3243A\>G | A3243G\-F123 | A3243G\-F123\-III37 | Fam | ND | N | Y | ND | ND | 56% | / | / | / | Hypothalamic hypocorticism is reported for III\-37 | Fig. 2 lymphocyte/blood A3243G load; Affected maternal relative |
| 277 | 3243 | m.3243A\>G | A3243G\-F123 | A3243G\-F123\-III38 | Fam | ND | N | ND | ND | ND | 83% | / | / | / | ND | Fig. 2 lymphocyte/blood A3243G load; Affected maternal relative; exact features coded in pedigree |
| 278 | 3243 | m.3243A\>G | A3243G\-F123 | A3243G\-F123\-IV42 | Fam | ND | N | Y | ND | 18 months onset | 75% | / | / | / | Recurrent pallor attacks from 18 months; No abnormal movements or mental retardation reported | Fig. 2 lymphocyte/blood A3243G load. |
| 279 | 3243 | m.3243A\>G | A3243G\-F123 | A3243G\-F123\-IV43 | Fam | ND | N | ND | ND | ND | 40% | / | / | / | ND | Fig. 2 lymphocyte/blood A3243G load; Affected maternal relative; exact features coded in pedigree |
| 280 | 3243 | m.3243A\>G | A3243G\-F123 | A3243G\-F123\-IV44 | Fam | ND | N | ND | ND | ND | 80% | / | / | / | ND | Fig. 2 lymphocyte/blood A3243G load; Affected maternal relative; exact features coded in pedigree |
| 281 | 3243 | m.3243A\>G | A3243G\-F124 | A3243G\-F124\-P20 | Uninf | M | Y | Y | D | 58 | / | 77% | / | / | Diabetes, deafness, ataxia, dementia; Axonal neuropathy | Case 74 percentage reported from blood; others from muscle in Table 2\.; 20; Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype. |
| 282 | 3243 | m.3243A\>G | A3243G\-F125 | A3243G\-F125\-P39 | Uninf | M | Y | Y | A | 42 | / | 75% | / | / | PEO, limb weakness, exercise intolerance, single stroke at 47 years, diabetes | Case 74 percentage reported from blood; others from muscle in Table 2\.; 39; Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype. |
| 283 | 3243 | m.3243A\>G | A3243G\-F126 | A3243G\-F126\-P73 | Uninf | M | Y | Y | D | 15 | / | 80% | / | / | Seizures, intellectual decline, strokes, ataxia, deafness; Optic atrophy, short stature | Case 74 percentage reported from blood; others from muscle in Table 2\.; 73; Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype. |
| 284 | 3243 | m.3243A\>G | A3243G\-F127 | A3243G\-F127\-P74 | Uninf | F | Y | Y | A | 51 | 91% | / | / | / | Ptosis, limb weakness, exercise intolerance | Case 74 percentage reported from blood; others from muscle in Table 2\.; 74; Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype. |
| 285 | 3243 | m.3243A\>G | A3243G\-F128 | A3243G\-F128\-P75 | Uninf | M | Y | Y | D | 23 | / | 91% | / | / | Delayed milestones, scoliosis, headaches, seizures, strokes, dementia, ataxia, cardiomyopathy; Deafness | Case 74 percentage reported from blood; others from muscle in Table 2\.; 75; Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype. |
| 286 | 3243 | m.3243A\>G | A3243G\-F129 | A3243G\-F129\-P76 | Uninf | M | Y | Y | A | 35 | / | 77% | / | / | Deafness, ataxia, dementia, diabetes; Pigmentary retinopathy | Case 74 percentage reported from blood; others from muscle in Table 2\.; 76; Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype. |
| 287 | 3243 | m.3243A\>G | A3243G\-F130 | A3243G\-F130\-P77 | Uninf | F | Y | Y | A | 52 | / | 77% | / | / | Deafness, myoclonus, ataxia, dementia; Pigmentary retinopathy | Case 74 percentage reported from blood; others from muscle in Table 2\.; 77; Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype. |
| 288 | 3243 | m.3243A\>G | A3243G\-F131 | A3243G\-F131\-P79 | Uninf | M | Y | Y | A | 40 | / | 78% | / | / | Deafness, diabetes, cardiomyopathy, ataxia, dementia, renal failure; Pigmentary retinopathy | Case 74 percentage reported from blood; others from muscle in Table 2\.; 79; Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype. |
| 289 | 3243 | m.3243A\>G | A3243G\-F132 | A3243G\-F132\-P86 | Uninf | F | Y | Y | D | 23 | / | 86% | / | / | Intestinal pseudo\-obstruction, seizures, strokes, ataxia, dementia; Axonal neuropathy, pigmentary retinopathy | Case 74 percentage reported from blood; others from muscle in Table 2\.; 86; Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype. |
| 290 | 3243 | m.3243A\>G | A3243G\-F133 | A3243G\-F133\-P113 | Uninf | F | Y | Y | A | 58 | / | 44% | / | / | PEO, deafness, limb weakness; Pigmentary retinopathy, axonal neuropathy | Case 74 percentage reported from blood; others from muscle in Table 2\.; 113; Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype. |
| 291 | 3243 | m.3243A\>G | A3243G\-F134 | A3243G\-F134\-P119 | Fam | F | ND | Y | A | 19 | / | 95% | / | / | Seizures, delayed milestones, intellectual decline, strokes, severe dementia; Short stature | Case 74 percentage reported from blood; others from muscle in Table 2\.; 119; Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype. |
| 292 | 3243 | m.3243A\>G | A3243G\-F134 | A3243G\-F134\-P2 | Fam | F | N | N | ND | ND | / | small percentage | / | / | Healthy | Mother of Case 119; harboured a small percentage of mutant mtDNA in biopsied muscle; exact percentage not reported; Healthy |
| 293 | 3243 | m.3243A\>G | A3243G\-F135 | A3243G\-F135\-P1 | Fam | F | ND | Y | D | 42 | / | 54% | / | / | Drop attacks, ataxia, cardiac failure, seizures, strokes, dementia, pseudo\-obstruction; Ophthalmoparesis, pigmentary retinopathy, deafness | Case 74 percentage reported from blood; others from muscle in Table 2\.; 21a; Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype. |
| 294 | 3243 | m.3243A\>G | A3243G\-F135 | A3243G\-F135\-P2 | Fam | M | ND | Y | D | 12 | / | 80% | / | / | Seizures, intellectual decline, ataxia, deafness, strokes, myoclonus, coma; Pigmentary retinopathy | Case 74 percentage reported from blood; others from muscle in Table 2\.; 21b; Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype. |
| 295 | 3243 | m.3243A\>G | A3243G\-F135 | A3243G\-F135\-P3 | Fam | F | ND | Y | A | 21 | / | 53% | / | / | Limb weakness and fatigue | Case 74 percentage reported from blood; others from muscle in Table 2\.; 21c; Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype. |
| 296 | 3243 | m.3243A\>G | A3243G\-F136 | A3243G\-F136\-P1 | Uninf | M | Y | Y | D | 61 | / | 77% | / | / | MADfDb DRN | Table 1; case history states male aged 59/61\. Feature abbreviations follow article legend. |
| 297 | 3243 | m.3243A\>G | A3243G\-F137 | A3243G\-F137\-III1 | Fam | ND | Y | Y | D | 47 | 14% | 54% | / | / | OMAStSDf DRGi | Table 1\. Feature abbreviations follow article legend. |
| 298 | 3243 | m.3243A\>G | A3243G\-F137 | A3243G\-F137\-IV1 | Fam | M | N | Y | D | 18 | 49% | 80% | / | / | MAStSDf RMc | Table 1\. Feature abbreviations follow article legend. |
| 299 | 3243 | m.3243A\>G | A3243G\-F137 | A3243G\-F137\-IV2 | Fam | F | N | Y | ND | 21 | 43% | 53% | / | / | M | Table 1\. Feature abbreviations follow article legend. |
| 300 | 3243 | m.3243A\>G | A3243G\-F137 | A3243G\-F137\-III2 | Fam | F | N | N | ND | 42 | 10% | / | / | / | Healthy | Asymptomatic carrier in Table 1\. Feature abbreviations follow article legend; Healthy |
| 301 | 3243 | m.3243A\>G | A3243G\-F138 | A3243G\-F138\-P1 | Uninf | ND | Y | Y | ND | 49 | / | 75% | / | / | OMDb (single stroke) | Table 1\. Feature abbreviations follow article legend. |
| 302 | 3243 | m.3243A\>G | A3243G\-F139 | A3243G\-F139\-P1 | Uninf | ND | Y | Y | ND | 66 | / | 50% | / | / | OMSDf (single stroke) | Table 1\. Feature abbreviations follow article legend. |
| 303 | 3243 | m.3243A\>G | A3243G\-F140 | A3243G\-F140\-P1 | Uninf | ND | Y | Y | D | 18 | 53% | 80% | / | / | MAStSDfChOn | Table 1\. Feature abbreviations follow article legend. |
| 304 | 3243 | m.3243A\>G | A3243G\-F141 | A3243G\-F141\-II3 | Fam | ND | Y | Y | ND | 56 | 91% | / | / | / | M | Table 1; family carries additional homoplasmic 3290T\>C. Feature abbreviations follow article legend. |
| 305 | 3243 | m.3243A\>G | A3243G\-F141 | A3243G\-F141\-III1 | Fam | F | N | N | ND | 34 | 83% | / | / | / | None | Asymptomatic carrier in Table 1\. Feature abbreviations follow article legend. |
| 306 | 3243 | m.3243A\>G | A3243G\-F141 | A3243G\-F141\-III2 | Fam | F | N | N | ND | 32 | 78% | / | / | / | None | Asymptomatic carrier in Table 1\. Feature abbreviations follow article legend. |
| 307 | 3243 | m.3243A\>G | A3243G\-F141 | A3243G\-F141\-II2 | Fam | M | N | Y | ND | 53 | 37% | / | / | / | M | Table 1\. Feature abbreviations follow article legend. |
| 308 | 3243 | m.3243A\>G | A3243G\-F142 | A3243G\-F142\-P1 | Uninf | ND | Y | Y | D | 24 | / | 91% | / | / | OMAStSDf DRMcC | Table 1\. Feature abbreviations follow article legend. |
| 309 | 3243 | m.3243A\>G | A3243G\-F143 | A3243G\-F143\-P1 | Uninf | ND | Y | Y | ND | 35 | 19% | 77% | / | / | OMADfD | Table 1\. Feature abbreviations follow article legend. |
| 310 | 3243 | m.3243A\>G | A3243G\-F144 | A3243G\-F144\-P1 | Uninf | ND | Y | Y | ND | 52 | 0% | 77% | / | / | MADfMc | Blood was 0 but muscle positive; Table 1\. Feature abbreviations follow article legend. |
| 311 | 3243 | m.3243A\>G | A3243G\-F145 | A3243G\-F145\-P1 | Uninf | ND | Y | Y | ND | 44 | 17% | 78% | / | / | MADfDbDN | Table 1\. Feature abbreviations follow article legend. |
| 312 | 3243 | m.3243A\>G | A3243G\-F146 | A3243G\-F146\-P1 | Uninf | ND | Y | Y | D | 24 | / | 86% | / | / | MAStSDRDy GiN | Table 1\. Feature abbreviations follow article legend. |
| 313 | 3243 | m.3243A\>G | A3243G\-F147 | A3243G\-F147\-P1 | Fam | ND | Y | Y | ND | 60 | 13% | 44% | / | / | OMDfROn | Table 1\. Feature abbreviations follow article legend. |
| 314 | 3243 | m.3243A\>G | A3243G\-F147 | A3243G\-F147\-I2 | Uninf | F | N | N | ND | 58 | 17% | / | / | / | None | Asymptomatic carrier in Table 1\. Feature abbreviations follow article legend. |
| 315 | 3243 | m.3243A\>G | A3243G\-F148 | A3243G\-F148\-III2 | Fam | ND | Y | Y | D | 27 | 27% | / | / | / | AStSDfDbR | Table 1\. Feature abbreviations follow article legend. |
| 316 | 3243 | m.3243A\>G | A3243G\-F148 | A3243G\-F148\-II2 | Fam | F | N | Y | ND | 49 | 17% | / | / | / | Df | Table 1\. Feature abbreviations follow article legend. |
| 317 | 3243 | m.3243A\>G | A3243G\-F148 | A3243G\-F148\-III1 | Fam | F | N | Y | ND | 32 | 23% | / | / | / | Df | Table 1\. Feature abbreviations follow article legend. |
| 318 | 3243 | m.3243A\>G | A3243G\-F148 | A3243G\-F148\-III3 | Fam | F | N | N | ND | 25 | 18% | / | / | / | None | Asymptomatic carrier in Table 1\. Feature abbreviations follow article legend. |
| 319 | 3243 | m.3243A\>G | A3243G\-F148 | A3243G\-F148\-III5 | Fam | ND | N | N | ND | 21 | 36% | / | / | / | None | Asymptomatic carrier in Table 1\. Feature abbreviations follow article legend. |
| 320 | 3243 | m.3243A\>G | A3243G\-F149 | A3243G\-F149\-P1 | Fam | ND | Y | Y | ND | 10 | 62% | / | / | / | StS | Table 1\. Feature abbreviations follow article legend. |
| 321 | 3243 | m.3243A\>G | A3243G\-F149 | A3243G\-F149\-I1 | Uninf | F | N | N | ND | ND | 14% | / | / | / | None | Asymptomatic carrier in Table 1\. Feature abbreviations follow article legend. |
| 322 | 3243 | m.3243A\>G | A3243G\-F150 | A3243G\-F150\-P1 | Fam | ND | Y | Y | ND | 31 | / | 95% | / | / | MAStSD | Table 1\. Feature abbreviations follow article legend. |
| 323 | 3243 | m.3243A\>G | A3243G\-F150 | A3243G\-F150\-I1 | Uninf | F | N | N | ND | 60 | 0% | 12% | / | / | None | Blood was 0 but muscle positive; Table 1\. Feature abbreviations follow article legend. |
| 324 | 3243 | m.3243A\>G | A3243G\-F151 | A3243G\-F151\-III4 | Fam | ND | Y | Y | D | 29 | 43% | / | / | / | MAStS | Table 1\. Feature abbreviations follow article legend. |
| 325 | 3243 | m.3243A\>G | A3243G\-F151 | A3243G\-F151\-II2 | Fam | M | N | N | ND | 58 | 8% | / | / | / | None | Asymptomatic carrier in Table 1\. Feature abbreviations follow article legend. |
| 326 | 3243 | m.3243A\>G | A3243G\-F151 | A3243G\-F151\-III3 | Fam | F | N | N | ND | 28 | 28% | / | / | / | None | Asymptomatic carrier in Table 1\. Feature abbreviations follow article legend. |
| 327 | 3243 | m.3243A\>G | A3243G\-F151 | A3243G\-F151\-IV1 | Fam | M | N | N | ND | 8 | 46% | / | / | / | None | Asymptomatic carrier in Table 1\. Feature abbreviations follow article legend. |
| 328 | 3243 | m.3243A\>G | A3243G\-F151 | A3243G\-F151\-IV2 | Fam | M | N | N | ND | 6 | 50% | / | / | / | None | Asymptomatic carrier in Table 1\. Feature abbreviations follow article legend. |
| 329 | 3243 | m.3243A\>G | A3243G\-F152 | A3243G\-F152\-IV2 | Fam | ND | Y | Y | ND | 18 | 59% | / | / | / | OMDf | Table 1\. Feature abbreviations follow article legend. |
| 330 | 3243 | m.3243A\>G | A3243G\-F152 | A3243G\-F152\-III1 | Fam | F | N | Y | ND | 40 | 25% | / | / | / | OM | Table 1\. Feature abbreviations follow article legend. |
| 331 | 3243 | m.3243A\>G | A3243G\-F152 | A3243G\-F152\-IV1 | Fam | F | N | Y | ND | 21 | 36% | / | / | / | O | Table 1\. Feature abbreviations follow article legend. |
| 332 | 3243 | m.3243A\>G | A3243G\-F153 | A3243G\-F153\-IV5 | Fam | ND | Y | Y | D | 43 | / | / | / | / | DbDfC | Index patient is target\-positive by study inclusion; numeric load not visible in Table 1 row. Feature abbreviations follow article legend. |
| 333 | 3243 | m.3243A\>G | A3243G\-F153 | A3243G\-F153\-IV3 | Fam | F | N | Y | ND | 54 | 11% | / | / | / | R | Table 1\. Feature abbreviations follow article legend. |
| 334 | 3243 | m.3243A\>G | A3243G\-F153 | A3243G\-F153\-IV4 | Fam | F | N | Y | ND | 49 | 15% | 57% | / | / | DbDf | Table 1\. Feature abbreviations follow article legend. |
| 335 | 3243 | m.3243A\>G | A3243G\-F153 | A3243G\-F153\-IV6 | Fam | ND | N | Y | ND | 52 | 12% | / | / | / | Db | Table 1\. Feature abbreviations follow article legend. |
| 336 | 3243 | m.3243A\>G | A3243G\-F153 | A3243G\-F153\-IV8 | Fam | ND | N | N | ND | 58 | 4% | / | / | / | None | Asymptomatic carrier in Table 1\. Feature abbreviations follow article legend. |
| 337 | 3243 | m.3243A\>G | A3243G\-F153 | A3243G\-F153\-V1 | Fam | F | N | Y | ND | 33 | 15% | / | / | / | Df | Table 1\. Feature abbreviations follow article legend. |
| 338 | 3243 | m.3243A\>G | A3243G\-F153 | A3243G\-F153\-V2 | Fam | F | N | N | ND | 30 | 11% | / | / | / | None | Asymptomatic carrier in Table 1\. Feature abbreviations follow article legend. |
| 339 | 3243 | m.3243A\>G | A3243G\-F153 | A3243G\-F153\-V3 | Fam | F | N | N | ND | 28 | 8% | / | / | / | None | Asymptomatic carrier in Table 1\. Feature abbreviations follow article legend. |
| 340 | 3243 | m.3243A\>G | A3243G\-F153 | A3243G\-F153\-V4 | Fam | F | N | N | ND | 27 | 24% | / | / | / | None | Asymptomatic carrier in Table 1\. Feature abbreviations follow article legend. |
| 341 | 3243 | m.3243A\>G | A3243G\-F153 | A3243G\-F153\-V5 | Fam | M | N | N | ND | 24 | 31% | / | / | / | None | Asymptomatic carrier in Table 1\. Feature abbreviations follow article legend. |
| 342 | 3243 | m.3243A\>G | A3243G\-F153 | A3243G\-F153\-V8 | Fam | ND | N | N | ND | 26 | 13% | / | / | / | None | Asymptomatic carrier in Table 1\. Feature abbreviations follow article legend. |
| 343 | 3243 | m.3243A\>G | A3243G\-F153 | A3243G\-F153\-V9 | Fam | ND | N | N | ND | 26 | 13% | / | / | / | None | Asymptomatic carrier in Table 1\. Feature abbreviations follow article legend. |
| 344 | 3243 | m.3243A\>G | A3243G\-F154 | A3243G\-F154\-II1 | Fam | ND | Y | Y | ND | 11 | 58% | / | / | / | MAStDR | Table 1\. Feature abbreviations follow article legend. |
| 345 | 3243 | m.3243A\>G | A3243G\-F154 | A3243G\-F154\-P1 | Fam | F | N | Y | ND | 31 | 31% | / | / | / | Df | Table 1\. Feature abbreviations follow article legend. |
| 346 | 3243 | m.3243A\>G | A3243G\-F155 | A3243G\-F155\-P1 | Fam | ND | Y | Y | ND | 9 | 53% | / | / | / | AStSDCh | Table 1\. Feature abbreviations follow article legend. |
| 347 | 3243 | m.3243A\>G | A3243G\-F155 | A3243G\-F155\-P2 | Fam | F | N | N | ND | 35 | 10% | / | / | / | None | Asymptomatic carrier in Table 1\. Feature abbreviations follow article legend. |
| 348 | 3243 | m.3243A\>G | A3243G\-F156 | A3243G\-F156\-P1 | Fam | ND | Y | Y | ND | 18 | 58% | / | / | / | OM | Table 1\. Feature abbreviations follow article legend. |
| 349 | 3243 | m.3243A\>G | A3243G\-F156 | A3243G\-F156\-P2 | Fam | F | N | N | ND | 47 | 10% | / | / | / | None | Asymptomatic carrier in Table 1\. Feature abbreviations follow article legend. |
| 350 | 3243 | m.3243A\>G | A3243G\-F157 | A3243G\-F157\-II1 | Fam | M | N | Y | ND | 41 | 28% | / | / | / | OM | Table 1\. Feature abbreviations follow article legend. |
| 351 | 3243 | m.3243A\>G | A3243G\-F157 | A3243G\-F157\-II3 | Fam | F | N | Y | ND | 48 | 19% | / | / | / | OM | Table 1\. Feature abbreviations follow article legend. |
| 352 | 3243 | m.3243A\>G | A3243G\-F157 | A3243G\-F157\-III1 | Fam | M | N | Y | ND | 15 | 59% | / | / | / | OM | Table 1\. Feature abbreviations follow article legend. |
| 353 | 3243 | m.3243A\>G | A3243G\-F158 | A3243G\-F158\-I1 | Uninf | F | Y | Y | A | 62 | / | / | / | / | Diabetes onset age 48, insulin treatment, hearing loss; No diabetic complication reported | Table 3 Patient 1; mutation detected by peripheral white\-cell PCR/ApaI screening. |
| 354 | 3243 | m.3243A\>G | A3243G\-F158 | A3243G\-F158\-II1 | Fam | F | N | N | A | 28 | / | / | / | / | Healthy | A3243G\-positive daughter of Patient 1; treated as unaffected for G/H based on Table 3; Healthy |
| 355 | 3243 | m.3243A\>G | A3243G\-F159 | A3243G\-F159\-II1 | Fam | M | Y | Y | A | 23 | / | / | / | / | Diabetes onset age 17, treated with glibenclamide; No complication or hearing loss reported | Table 3 Patient 2; mutation detected by peripheral white\-cell PCR/ApaI screening. |
| 356 | 3243 | m.3243A\>G | A3243G\-F159 | A3243G\-F159\-I1 | Uninf | F | N | N | A | 52 | / | / | / | / | Healthy | A3243G\-positive mother of Patient 2; treated as unaffected for G/H based on Table 3; Healthy |
| 357 | 3243 | m.3243A\>G | A3243G\-F160 | A3243G\-F160\-P1 | Uninf | F | Y | Y | A | 63 | / | / | / | / | Diabetes onset age 53, insulin treatment, hearing loss; No complication reported | Table 3 Patient 3; no mapped relatives in Table 3\. |
| 358 | 3243 | m.3243A\>G | A3243G\-F161 | A3243G\-F161\-II1 | Fam | M | Y | Y | A | 36 | / | / | / | / | Diabetes onset age 30, insulin treatment; No complication or hearing loss reported | Table 3 Patient 4; mutation detected by peripheral white\-cell PCR/ApaI screening. |
| 359 | 3243 | m.3243A\>G | A3243G\-F161 | A3243G\-F161\-I1 | Uninf | F | N | Y | A | 63 | / | / | / | / | Diabetes onset age 48, insulin treatment, hearing loss; No complication reported | A3243G\-positive mother of Patient 4\. |
| 360 | 3243 | m.3243A\>G | A3243G\-F162 | A3243G\-F162\-P1 | Uninf | F | Y | Y | A | 53 | / | / | / | / | Diabetes onset age 43, treated with glibenclamide, hearing loss; No complication reported | Table 3 Patient 5; no mapped relatives in Table 3\. |
| 361 | 3243 | m.3243A\>G | A3243G\-F163 | A3243G\-F163\-II1 | Fam | F | Y | Y | A | 36 | / | / | / | / | Diabetes mellitus, sensory hearing loss, bilateral macular pattern dystrophy | Identified during screening for A\-to\-G mutation at position 3243; tissue and load not reported. |
| 362 | 3243 | m.3243A\>G | A3243G\-F163 | A3243G\-F163\-I1 | Uninf | F | N | Y | ND | ND | / | / | / | / | Diabetes mellitus, deafness, and macular pattern dystrophy of the same type as the proband | Text reports that the proband's mother had the mutation; tissue and load not reported. |
| 363 | 3243 | m.3243A\>G | A3243G\-F163 | A3243G\-F163\-I2 | Uninf | F | N | Y | ND | ND | / | / | / | / | Diabetes mellitus, deafness, and macular pattern dystrophy of the same type as the proband | Text reports that the proband's aunt had the mutation; tissue and load not reported. |
| 364 | 3243 | m.3243A\>G | A3243G\-F164 | A3243G\-F164\-P1 | Uninf | M | Y | Y | A | 48 | / | / | / | / | Diabetes mellitus, deafness for ten years, bilateral macular dystrophy with extensive atrophic changes | Text reports A\-to\-G mutation at position 3243; mother is diabetic but not reported target\-tested. |
| 365 | 3243 | m.3243A\>G | A3243G\-F165 | A3243G\-F165\-P1 | Fam | F | Y | Y | A | 29 | / | / | / | / | Impaired glucose tolerance; No raised hearing threshold; Past history of giving birth to a boy with MELAS | Fig.1 lane 1 / Fig.2\-1 Patient 1; mutation percentage differed among patients but exact value not reported; family history of diabetes mellitus in paternal and maternal lineages |
| 366 | 3243 | m.3243A\>G | A3243G\-F165 | A3243G\-F165\-P2 | Fam | M | N | Y | D | 15 months at death | / | / | / | / | MELAS; Died at 15 months | No molecular testing in child; included because mother has confirmed mutation load and child phenotype is explicitly reported. |
| 367 | 3243 | m.3243A\>G | A3243G\-F166 | A3243G\-F166\-P2 | Uninf | F | Y | Y | A | 20 | / | / | / | / | Diabetes diagnosed at age 20; Treated by diet alone; Maternally inherited diabetes mellitus going back three generations; Impaired insulin secretion for age | Fig.1 lane 2 / Fig.2\-2 Patient 2; family\-history statement is not individually mappable for additional carrier or G/H rows. |
| 368 | 3243 | m.3243A\>G | A3243G\-F167 | A3243G\-F167\-P3 | Uninf | M | Y | Y | A | 57 | / | / | / | / | NIDDM diagnosed at age 43; Treated with oral hypoglycemic agent; No overt myopathy; Slight high\-frequency hearing threshold elevation | Fig.1 lane 3 / Fig.2\-3 Patient 3; mutation percentage not quantified. |
| 369 | 3243 | m.3243A\>G | A3243G\-F168 | A3243G\-F168\-I1 | Uninf | F | N | Y | A | 54 | / | 40% | / | / | IDDM and slight exercise intolerance | Muscle alone was studied in Pedigree A I\-1; Figure/Table 1 reports M\=40%. |
| 370 | 3243 | m.3243A\>G | A3243G\-F168 | A3243G\-F168\-II1 | Fam | M | Y | Y | D | 24 | / | / | / | / | MELAS, IDDM/ketoacidosis, hearing impairment, migraine, seizures/status epilepticus, hypertrophic cardiomyopathy, short stature | No molecular testing in child; included because mother has confirmed mutation load and child phenotype is explicitly reported. |
| 371 | 3243 | m.3243A\>G | A3243G\-F168 | A3243G\-F168\-II2 | Fam | F | N | Y | A | 27 | / | 70% | / | / | Exercise intolerance, migraine/headache with vomiting, progressive bilateral hearing loss, short stature | Muscle alone was studied in Pedigree A II\-2; Figure/Table 1 reports M\=70%. |
| 372 | 3243 | m.3243A\>G | A3243G\-F169 | A3243G\-F169\-I1 | Uninf | F | N | N | A | 85 | 40% | / | / | / | Healthy | Blood alone was analyzed in Pedigree B I\-1; Figure/Table 1 reports B\=40%; Asymptomatic mutation carrier |
| 373 | 3243 | m.3243A\>G | A3243G\-F169 | A3243G\-F169\-II1 | Fam | F | N | Y | A | 58 | 60% | / | / | / | Mild exercise intolerance and weakness | Proband's mother; blood alone was analyzed; Figure/Table 1 reports B\=60%. |
| 374 | 3243 | m.3243A\>G | A3243G\-F169 | A3243G\-F169\-II3 | Fam | M | N | Y | A | 55 | 60% | / | / | / | Mild exercise intolerance and weakness | Maternal uncle; blood alone was analyzed; Figure/Table 1 reports B\=60%. |
| 375 | 3243 | m.3243A\>G | A3243G\-F169 | A3243G\-F169\-III1 | Fam | M | Y | Y | A | 27 | 90% | 90% | / | / | Exercise intolerance and weakness, lactic acidosis, ragged\-red fibers | Propositus; both blood and muscle were studied; Figure/Table 1 reports B\=90% and M\=90%. |
| 376 | 3243 | m.3243A\>G | A3243G\-F169 | A3243G\-F169\-III2 | Fam | M | N | N | A | 21 | 70% | / | / | / | Healthy | Brother of the propositus; blood alone was analyzed; Figure/Table 1 reports B\=70%; Asymptomatic mutation carrier |
| 377 | 3243 | m.3243A\>G | A3243G\-F170 | A3243G\-F170\-P1 | Fam | F | Y | Y | A | 35 | / | / | / | / | Bilateral sensorineural hearing loss and diabetes mellitus; Fluctuating right\-ear hearing loss | Fig. 1 lane 1 patient in case 1; leukocyte DNA positive by ApaI digestion; no heteroplasmy percentage. |
| 378 | 3243 | m.3243A\>G | A3243G\-F171 | A3243G\-F171\-P1 | Fam | M | Y | Y | A | 37 | / | / | / | / | Bilateral sensorineural hearing loss and diabetes mellitus | Fig. 1 lane 2 patient in case 2; leukocyte DNA positive by ApaI digestion; no heteroplasmy percentage. |
| 379 | 3243 | m.3243A\>G | A3243G\-F172 | A3243G\-F172\-P1 | Fam | F | Y | Y | A | 41 | / | / | / | / | Bilateral sensorineural hearing loss, diabetes mellitus, stroke\-like episodes and dementia | Fig. 1 lane 3 patient in case 3; leukocyte DNA positive by ApaI digestion; no heteroplasmy percentage. |
| 380 | 3243 | m.3243A\>G | A3243G\-F172 | A3243G\-F172\-P2 | Fam | M | N | Y | A | 10 | / | / | / | / | Normal hearing | Text reports the mtDNA mutation was detected by PCR in the patient's 10\-year\-old son; no heteroplasmy percentage. |
| 381 | 3243 | m.3243A\>G | A3243G\-F173 | A3243G\-F173\-P1 | De novo | M | Y | Y | D | 10 | 30% | 70% | / | / | MERRF/MELAS overlap: generalized tonic\-clonic seizures, myoclonus, transient cortical blindness, stroke\-like episodes, migrainous headache, ataxia, psychomotor delay, elevated lactate, ragged\-red fibers, respiratory\-chain complex I/IV defects; Fatal pneumonia after deterioration | Article introduces a 14\-year\-old boy, but the detailed clinical/genetic workup is described at age 10\. A3243G was absent in reported maternal\-relative tissues; authors speculate low\-level maternal germline mosaicism may still be possible. |
| 382 | 3243 | m.3243A\>G | A3243G\-F174 | A3243G\-F174\-I1 | Uninf | F | N | Y | A | 65 | 5% | / | / | / | Hyperthyroidism, retinopathy and macular epithelial degeneration | / |
| 383 | 3243 | m.3243A\>G | A3243G\-F174 | A3243G\-F174\-II1 | Fam | F | N | Y | A | 43 | 20% | 70% | / | / | Multinodular euthyroid goitre, cervical lipoma, basal ganglia calcifications and brain atrophy; RRF in muscle | Treated with thyroxine. |
| 384 | 3243 | m.3243A\>G | A3243G\-F174 | A3243G\-F174\-III1 | Fam | M | Y | Y | A | 18 | 30% | 78% | / | / | MERRF\-like syndrome with seizures, myoclonus, ataxia, mental deterioration, optic atrophy, neural deafness and cervical lipoma | Proband. |
| 385 | 3243 | m.3243A\>G | A3243G\-F174 | A3243G\-F174\-III2 | Fam | F | N | Y | A | 14 | / | / | / | / | Headache and nasal speech | / |
| 386 | 3243 | m.3243A\>G | A3243G\-F175 | A3243G\-F175\-I1 | Uninf | F | N | N | A | 91 | 35% | / | / | / | Healthy | Healthy |
| 387 | 3243 | m.3243A\>G | A3243G\-F175 | A3243G\-F175\-II1 | Fam | F | N | Y | A | 66 | 5% | / | / | / | Mild neural deafness | / |
| 388 | 3243 | m.3243A\>G | A3243G\-F175 | A3243G\-F175\-III1 | Fam | F | N | Y | A | 43 | 14% | 77% | / | / | CPEO; Ptosis/ophthalmoparesis; Proximal myopathy; Mild neural deafness; Lactic acidemia | / |
| 389 | 3243 | m.3243A\>G | A3243G\-F175 | A3243G\-F175\-III2 | Fam | F | N | N | A | 42 | 3% | / | / | / | Healthy | Healthy |
| 390 | 3243 | m.3243A\>G | A3243G\-F175 | A3243G\-F175\-III3 | Fam | M | N | N | A | 38 | 7% | / | / | / | Healthy | Fig.1/Table I; male branch does not transmit mtDNA to IV\-4; Healthy |
| 391 | 3243 | m.3243A\>G | A3243G\-F175 | A3243G\-F175\-IV1 | Fam | F | N | Y | D | 16 | / | / | / | / | MELAS; Severe mitochondrial cardiomyopathy; Severe deafness; Dementia; Ataxia; Hemianopia; Proximal myopathy; Died about age 17 | / |
| 392 | 3243 | m.3243A\>G | A3243G\-F175 | A3243G\-F175\-IV2 | Fam | F | Y | Y | D | 1 mo | / | / | / | 32%(ND); 100%(ND) | VACTERL; Renal failure; Died day 31 | Proposita; marked by arrow in Fig. 1\. |
| 393 | 3243 | m.3243A\>G | A3243G\-F175 | A3243G\-F175\-IV3 | Fam | F | N | N | A | 19 | 17% | / | / | / | Healthy | Healthy |
| 394 | 3243 | m.3243A\>G | A3243G\-F176 | A3243G\-F176\-P1 | Fam | M | Y | Y | ND | ND | / | / | / | / | Index case; Complete MELAS syndrome; Massive hypertrophic cardiomyopathy; Insulin\-dependent diabetes mellitus | Case 1; family 1; ND1 T3398C also present. |
| 395 | 3243 | m.3243A\>G | A3243G\-F177 | A3243G\-F177\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | MELAS | Case 2; T3398C not demonstrable; MELAS index case from family 2 |
| 396 | 3243 | m.3243A\>G | A3243G\-F178 | A3243G\-F178\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | MELAS | Case 3; T3398C not demonstrable; MELAS index case from family 3 |
| 397 | 3243 | m.3243A\>G | A3243G\-F179 | A3243G\-F179\-P1 | Uninf | F | ND | Y | D | 3 | / | 95% | / | / | MELAS; Stroke; Seizures; Lactic acidosis; Ragged\-red fibers; Focal brain lesion | Original paper subject label: P1; autopsy case; family history positive |
| 398 | 3243 | m.3243A\>G | A3243G\-F180 | A3243G\-F180\-P1 | Uninf | F | ND | Y | D | 35 | / | 58% | / | / | MELAS; Stroke; Seizures; Lactic acidosis; Ragged\-red fibers; Diabetes mellitus; Deafness; Focal brain lesion | Original paper subject label: P2; autopsy case; family history positive |
| 399 | 3243 | m.3243A\>G | A3243G\-F181 | A3243G\-F181\-P1 | Uninf | M | ND | Y | D | 26 | / | 94% | / | / | MELAS; Stroke; Seizures; Lactic acidosis; Ragged\-red fibers; Deafness; Focal brain lesion | Original paper subject label: P3; autopsy case; family history positive |
| 400 | 3243 | m.3243A\>G | A3243G\-F182 | A3243G\-F182\-P1 | Uninf | M | ND | Y | D | 36 | / | 71% | / | / | MELAS; Stroke; Seizures; Lactic acidosis; Ragged\-red fibers; Diabetes mellitus; Deafness; Focal brain lesion | Original paper subject label: P4; autopsy case; family history negative |
| 401 | 3243 | m.3243A\>G | A3243G\-F183 | A3243G\-F183\-P1 | Uninf | M | ND | Y | A | 22 | / | 81% | / | / | MELAS; Stroke; Seizures; Lactic acidosis; Ragged\-red fibers; Diabetes mellitus; Deafness; Focal brain lesion | Original paper subject label: P5; biopsied\-muscle case; family history not available |
| 402 | 3243 | m.3243A\>G | A3243G\-F184 | A3243G\-F184\-P1 | Uninf | M | ND | Y | A | 32 | / | 72% | / | / | MELAS; Stroke; Seizures; Lactic acidosis; Ragged\-red fibers; Diabetes mellitus; Deafness; Focal brain lesion | Original paper subject label: P6; biopsied\-muscle case; family history positive |
| 403 | 3243 | m.3243A\>G | A3243G\-F185 | A3243G\-F185\-P1 | Uninf | M | ND | Y | A | 27 | / | 76% | / | / | MELAS; Stroke; Seizures; Lactic acidosis; Ragged\-red fibers; Diabetes mellitus; Deafness; Focal brain lesion | Original paper subject label: P7; biopsied\-muscle case; family history negative |
| 404 | 3243 | m.3243A\>G | A3243G\-F186 | A3243G\-F186\-P1 | Uninf | F | ND | Y | A | 46 | / | 79% | / | / | MELAS; Stroke; Seizures; Lactic acidosis; Ragged\-red fibers; Focal brain lesion | Original paper subject label: P8; biopsied\-muscle case; family history negative |
| 405 | 3243 | m.3243A\>G | A3243G\-F187 | A3243G\-F187\-P1 | Uninf | M | Y | Y | A | 16 | 28\.5% | 75% | / | 34%(F); 56%(F); 46%(F) | MELAS patient used to establish primary skin fibroblast culture; Clinical details not otherwise described in this biochemical study | Primary skin fibroblast culture donor. |
| 406 | 3243 | m.3243A\>G | A3243G\-F188 | A3243G\-F188\-VII1 | Fam | F | N | ND | ND | 57 | 10\.1%; 0\.4\-\>8\.2% | / | / | / | Clinical status not subject\-specific in Table 1 | Pedigree V; Table 1 |
| 407 | 3243 | m.3243A\>G | A3243G\-F188 | A3243G\-F188\-VII9 | Fam | M | N | ND | ND | 42 | 20\.3%; 4\.4\-\>13\.9% | / | / | / | Clinical status not subject\-specific in Table 1 | Pedigree V; Table 1 |
| 408 | 3243 | m.3243A\>G | A3243G\-F188 | A3243G\-F188\-VIII1 | Fam | M | N | ND | ND | 29 | 16\.1%; 4\.2\-\>11\.4% | / | / | / | Clinical status not subject\-specific in Table 1 | Pedigree V; Table 1 |
| 409 | 3243 | m.3243A\>G | A3243G\-F188 | A3243G\-F188\-VIII2 | Fam | F | N | ND | ND | 27 | 33\.2%; 4\.1\-\>30\.3% | / | / | / | Clinical status not subject\-specific in Table 1 | Pedigree V; Table 1 |
| 410 | 3243 | m.3243A\>G | A3243G\-F188 | A3243G\-F188\-VIII13 | Fam | F | N | ND | ND | 27 | 30\.8%; 4\.6\-\>25\.4% | / | / | / | Clinical status not subject\-specific in Table 1 | Pedigree V; Table 1 |
| 411 | 3243 | m.3243A\>G | A3243G\-F188 | A3243G\-F188\-VIII14 | Fam | F | N | ND | ND | 26 | 25\.3%; 5\.9\-\>20\.1% | / | / | / | Clinical status not subject\-specific in Table 1 | Pedigree V; Table 1 |
| 412 | 3243 | m.3243A\>G | A3243G\-F188 | A3243G\-F188\-VIII15 | Fam | M | N | ND | ND | 20 | 21\.5%; 15\.6\-\>16\.2% | / | / | / | Clinical status not subject\-specific in Table 1 | Pedigree V; Table 1 |
| 413 | 3243 | m.3243A\>G | A3243G\-F188 | A3243G\-F188\-VIII16 | Fam | M | N | ND | ND | 23 | 41\.8%; 16\.0\-\>40\.5% | / | / | / | Clinical status not subject\-specific in Table 1 | Pedigree V; Table 1 |
| 414 | 3243 | m.3243A\>G | A3243G\-F188 | A3243G\-F188\-VIII17 | Fam | M | N | ND | ND | 21 | 53\.9%; 8\.6\-\>50\.1% | / | / | / | Clinical status not subject\-specific in Table 1 | Pedigree V; Table 1 |
| 415 | 3243 | m.3243A\>G | A3243G\-F188 | A3243G\-F188\-VIII19 | Fam | F | N | ND | ND | 27 | 15\.4%; 10\.4\-\>14\.5% | / | / | / | Clinical status not subject\-specific in Table 1 | Pedigree V; Table 1 |
| 416 | 3243 | m.3243A\>G | A3243G\-F188 | A3243G\-F188\-VIII20 | Fam | M | N | ND | ND | 19 | 18\.6%; 4\.1\-\>13\.4% | / | / | / | Clinical status not subject\-specific in Table 1 | Pedigree V; Table 1 |
| 417 | 3243 | m.3243A\>G | A3243G\-F188 | A3243G\-F188\-VIII21 | Fam | M | N | ND | ND | 15 | 34\.8%; 5\.5\-\>28\.7% | / | / | / | Clinical status not subject\-specific in Table 1 | Pedigree V; Table 1 |
| 418 | 3243 | m.3243A\>G | A3243G\-F188 | A3243G\-F188\-VIII22 | Fam | M | N | ND | ND | 21 | 18\.7%; 3\.6\-\>23\.1% | / | / | / | Clinical status not subject\-specific in Table 1 | Pedigree V; Table 1 |
| 419 | 3243 | m.3243A\>G | A3243G\-F188 | A3243G\-F188\-VIII23 | Fam | F | N | ND | ND | 18 | 42\.5%; 4\.6\-\>33\.2% | / | / | / | Clinical status not subject\-specific in Table 1 | Pedigree V; Table 1 |
| 420 | 3243 | m.3243A\>G | A3243G\-F189 | A3243G\-F189\-P117 | Fam | F | N | ND | ND | 39 | 20\.1%; 5\.6\-\>19\.5% | / | / | / | Clinical status not subject\-specific in Table 1 | Pedigree 117; Table 1 |
| 421 | 3243 | m.3243A\>G | A3243G\-F190 | A3243G\-F190\-III4 | Fam | F | N | ND | ND | 54 | 6\.7%; 2\.9\-\>6\.3% | / | / | / | Clinical status not subject\-specific in Table 1 | Pedigree S; Table 1 |
| 422 | 3243 | m.3243A\>G | A3243G\-F190 | A3243G\-F190\-IV1 | Fam | F | N | ND | ND | 26 | 13\.0%; 3\.1\-\>12\.0% | / | / | / | Clinical status not subject\-specific in Table 1 | Pedigree S; Table 1 |
| 423 | 3243 | m.3243A\>G | A3243G\-F190 | A3243G\-F190\-IV3 | Fam | F | N | ND | ND | 22 | 8\.9%; 2\.2\-\>6\.3% | / | / | / | Clinical status not subject\-specific in Table 1 | Pedigree S; Table 1 |
| 424 | 3243 | m.3243A\>G | A3243G\-F191 | A3243G\-F191\-P1 | Fam | M | Y | Y | A | 22 | 32% | / | / | / | Diabetes mellitus, myoclonic epilepsy involving the right facial muscle from age 12, mild sensorineural hearing loss, low C peptide response | Peripheral blood lymphocyte mtDNA; relative mutant:wild\-type proportion about 32:68\. |
| 425 | 3243 | m.3243A\>G | A3243G\-F191 | A3243G\-F191\-P2 | Fam | F | N | Y | A | ND | / | / | / | / | No diabetes or neuromuscular symptoms; Oral glucose tolerance test normal | Mother; Figure 1/text report heteroplasmic A3243G in family\-member blood DNA; no percentage reported. |
| 426 | 3243 | m.3243A\>G | A3243G\-F191 | A3243G\-F191\-P3 | Fam | M | N | Y | A | ND | / | / | / | / | No diabetes or neuromuscular symptoms; Oral glucose tolerance test normal | Younger brother; Figure 1/text report heteroplasmic A3243G in family\-member blood DNA; no percentage reported. |
| 427 | 3243 | m.3243A\>G | A3243G\-F192 | A3243G\-F192\-P1 | Fam | M | Y | Y | A | 60 | \<0\.2% | 0\.2% | / | / | NIDDM onset 57; No hearing impairment; Muscle histopathology evaluated | Age at biopsy 60; allele\-specific PCR positive; PCR\-RFLP Table 2\. |
| 428 | 3243 | m.3243A\>G | A3243G\-F192 | A3243G\-F192\-P2 | Fam | F | N | Y | ND | ND | / | / | / | / | Diabetes mellitus by Fig.1 | Fig.1 mother has tRNA(3243\) mutation and diabetes symbols; Diabetes mellitus by Fig.1 |
| 429 | 3243 | m.3243A\>G | A3243G\-F193 | A3243G\-F193\-P2 | Fam | M | Y | Y | A | 43 | 10% | 59% | / | / | NIDDM onset 38; Hearing impairment; Insulin treatment; Muscle histopathology evaluated | Age at biopsy 43; Table 1/Table 2\. |
| 430 | 3243 | m.3243A\>G | A3243G\-F194 | A3243G\-F194\-P3 | Fam | M | Y | Y | A | 71 | \<0\.2% | 35% | / | / | NIDDM onset 50; Hearing impairment; Muscle wasting; Cerebral/cerebellar atrophy | Age at biopsy 71; allele\-specific PCR positive; PCR\-RFLP Table 2\. |
| 431 | 3243 | m.3243A\>G | A3243G\-F195 | A3243G\-F195\-P4 | Fam | M | Y | Y | A | 51 | 1\.2% | 19% | / | / | NIDDM onset 29; Hearing impairment; Muscle wasting; Cerebral infarction | Age at biopsy 51; Table 1/Table 2\. |
| 432 | 3243 | m.3243A\>G | A3243G\-F196 | A3243G\-F196\-P5 | Fam | M | Y | Y | A | 51 | \<0\.2% | \<0\.2% | / | / | NIDDM onset 42; Hearing impairment; Allele\-specific positive below PCR\-RFLP threshold | Age at biopsy 51; allele\-specific PCR positive; PCR\-RFLP considered below 0\.2%. |
| 433 | 3243 | m.3243A\>G | A3243G\-F196 | A3243G\-F196\-P1 | Fam | F | N | Y | ND | ND | / | / | / | / | Diabetes mellitus by Fig.1 | Fig.1 mother has tRNA(3243\) mutation and diabetes symbols; Diabetes mellitus by Fig.1 |
| 434 | 3243 | m.3243A\>G | A3243G\-F197 | A3243G\-F197\-P6 | Fam | F | Y | Y | A | 62 | 0\.3% | 38% | / | / | IGT; Hearing impairment; Short stature; Muscle wasting; Cerebral/cerebellar atrophy | Age at biopsy 62; Table 1/Table 2\. |
| 435 | 3243 | m.3243A\>G | A3243G\-F197 | A3243G\-F197\-P1 | Fam | F | N | Y | ND | ND | / | / | / | / | Diabetes mellitus by Fig.1 | Fig.1 second daughter of Patient6 has tRNA(3243\) mutation and diabetes symbols; Diabetes mellitus by Fig.1 |
| 436 | 3243 | m.3243A\>G | A3243G\-F198 | A3243G\-F198\-P1 | Fam | M | Y | Y | A | 22 referral; 23 admission | / | / | / | 37%(ND) | Major depressive disorder with depressed mood, anxiety, fatigue, insomnia; WPW syndrome; Mild high\-tone sensorineural hearing loss | Proband; A3243G heteroplasmy reported but sample tissue is not specified in extracted text; reduced regional cerebral blood flow |
| 437 | 3243 | m.3243A\>G | A3243G\-F198 | A3243G\-F198\-P2 | Fam | F | N | Y | A | ND | / | / | / | 16%(ND) | Non\-insulin\-dependent diabetes mellitus; Normal rCBF/SPECT reported; No depressive symptoms reported | Mother; A3243G heteroplasmy reported but sample tissue is not specified in extracted text. |
| 438 | 3243 | m.3243A\>G | A3243G\-F199 | A3243G\-F199\-P1 | Fam | F | N | Y | A | ND | / | / | / | / | Deafness and chronic nephritis; OGTT negative/no diabetes reported | Fig.1 star and text indicate leukocyte mtDNA 3243 A\-to\-G mutation; load not reported. |
| 439 | 3243 | m.3243A\>G | A3243G\-F199 | A3243G\-F199\-P2 | Fam | F | Y | Y | A | 33 | / | / | / | / | Bilateral moderate sensorineural deafness; Chronic nephritis; No diabetes; No tinnitus or dizziness | A\-to\-G mutation at codon 3243 detected in leukocyte mtDNA; load not reported. |
| 440 | 3243 | m.3243A\>G | A3243G\-F199 | A3243G\-F199\-P3 | Fam | F | N | ND | A | ND | / | / | / | / | ND | Fig.1 star indicates 3243 A\-to\-G mutation; leukocyte DNA; load not reported; No deafness, diabetes, or nephritis shown in pedigree |
| 441 | 3243 | m.3243A\>G | A3243G\-F200 | A3243G\-F200\-P1 | Fam | F | Y | Y | A | 28 | \~1:1 mutant/wild\-type | / | / | / | Diabetes after childbirth; Sensorineural hearing loss since age 19; Macular pattern dystrophy/optic nerve dystrophy | A3243G detected in blood and buccal mucosal cells; lymphocyte mutant:wild\-type ratio approximately 1:1\. |
| 442 | 3243 | m.3243A\>G | A3243G\-F200 | A3243G\-F200\-P2 | Fam | F | N | Y | A | ND | / | / | / | / | No symptoms of diabetes or hearing loss; Ophthalmic examination unavailable | Found to have the same mitochondrial mutation as Case 1\. |
| 443 | 3243 | m.3243A\>G | A3243G\-F200 | A3243G\-F200\-P3 | Fam | F | N | Y | A | ND | / | / | / | / | No symptoms of diabetes or hearing loss; Ophthalmic examination unavailable | Found to have the same mitochondrial mutation as Case 1\. |
| 444 | 3243 | m.3243A\>G | A3243G\-F201 | A3243G\-F201\-P2 | Fam | F | Y | Y | A | 40 | / | / | / | / | Diabetes with prior ketoacidotic episode; Progressive sensorineural hearing loss requiring hearing aid; Macular pattern dystrophy | A3243G detected; exact tissue percentages not numerically reported. |
| 445 | 3243 | m.3243A\>G | A3243G\-F201 | A3243G\-F201\-P3 | Fam | F | Y | Y | A | 39 | / | / | / | / | Diabetes for 9 years; Hearing loss since childhood with recent worsening; Macular dystrophy | A3243G detected; exact tissue percentages not numerically reported; Sister of Case 2 |
| 446 | 3243 | m.3243A\>G | A3243G\-F201 | A3243G\-F201\-P1 | Fam | M | N | Y | A | 10 | / | / | / | / | No diabetes or deafness; Normal vision and color contrast sensitivity | Son of Case 2; harbored the same mutation in variable degree. |
| 447 | 3243 | m.3243A\>G | A3243G\-F201 | A3243G\-F201\-P4 | Fam | M | N | Y | A | 9 | / | / | / | / | No diabetes or deafness; Normal vision and color contrast sensitivity | Son of Case 2; harbored the same mutation in variable degree. |
| 448 | 3243 | m.3243A\>G | A3243G\-F201 | A3243G\-F201\-P5 | Fam | M | N | Y | A | 6 | / | / | / | / | No diabetes or deafness; Mild macular pigmentary changes | Youngest son; blood sample unavailable; buccal samples positive and reported as highest mutation percentage in the family. |
| 449 | 3243 | m.3243A\>G | A3243G\-F202 | A3243G\-F202\-P4 | Uninf | F | Y | Y | A | 58 | / | / | / | / | Bilateral sensorineural hearing loss; Diabetes diagnosed 5 years earlier; Mild visual loss and macular pattern dystrophy | No positive family history; daughters refused investigation. |
| 450 | 3243 | m.3243A\>G | A3243G\-F203 | A3243G\-F203\-III1 | Fam | F | N | Y | A | ND | / | / | / | / | Nerve deafness and impaired glucose tolerance; No diabetes reported | / |
| 451 | 3243 | m.3243A\>G | A3243G\-F203 | A3243G\-F203\-III2 | Fam | M | Y | Y | A | 42 | / | / | / | / | Diabetes diagnosed at 39; Clinically deaf; Islet cell antibody negative | / |
| 452 | 3243 | m.3243A\>G | A3243G\-F203 | A3243G\-F203\-III3 | Fam | F | Y | Y | A | 34 | / | / | / | / | Diabetes diagnosed at 28; Insulin required within the first year; Clinically deaf; Islet cell antibody negative | / |
| 453 | 3243 | m.3243A\>G | A3243G\-F203 | A3243G\-F203\-III4 | Fam | F | N | Y | A | ND | / | / | / | / | Nerve deafness and impaired glucose tolerance; No diabetes reported | / |
| 454 | 3243 | m.3243A\>G | A3243G\-F204 | A3243G\-F204\-P1 | Fam | F | Y | Y | A | 56 | 12% | / | / | 21%(ND) | Diabetes, hearing aid, renal transplant and arterial hypertension | Family A arrowed proband; Table 1\. |
| 455 | 3243 | m.3243A\>G | A3243G\-F204 | A3243G\-F204\-P2 | Fam | F | Y | Y | A | 65 | 6% | / | / | 15%(ND) | Diabetes, hearing aid, renal transplant and arterial hypertension | Family A proband named in Results; Table 1\. |
| 456 | 3243 | m.3243A\>G | A3243G\-F204 | A3243G\-F204\-P3 | Fam | F | N | Y | A | 61 | 5% | / | / | 17%(ND) | Normal OGTT; 80 dB sensorineural hearing loss | Family A maternal relative; Table 1\. |
| 457 | 3243 | m.3243A\>G | A3243G\-F204 | A3243G\-F204\-P4 | Fam | M | N | Y | A | 35 | 4% | / | / | 4%(ND) | Normal OGTT, no hearing loss, no reported renal disease | Family A; Table 1\. |
| 458 | 3243 | m.3243A\>G | A3243G\-F204 | A3243G\-F204\-P5 | Fam | M | N | Y | A | 31 | 13% | / | / | 15%(ND) | Normal OGTT, no hearing loss, no reported renal disease | Family A; Table 1\. |
| 459 | 3243 | m.3243A\>G | A3243G\-F204 | A3243G\-F204\-P6 | Fam | F | N | Y | A | 28 | 9% | / | / | 16%(ND) | Normal OGTT, no hearing loss, no reported renal disease | Family A; Table 1\. |
| 460 | 3243 | m.3243A\>G | A3243G\-F204 | A3243G\-F204\-P7 | Fam | F | N | Y | A | 25 | 17% | / | / | 30%(ND) | Normal OGTT, no hearing loss, no reported renal disease | Family A; Figure 1 open symbol and Table 1 support Affected\=N. |
| 461 | 3243 | m.3243A\>G | A3243G\-F204 | A3243G\-F204\-P8 | Fam | M | N | Y | A | 30 | 20% | / | / | 31%(ND) | 45 dB hearing loss and proteinuria | Family A; Table 1 and text on proteinuria in A\-IV\-7\. |
| 462 | 3243 | m.3243A\>G | A3243G\-F204 | A3243G\-F204\-P9 | Fam | F | N | Y | A | 28 | 27% | / | / | 35%(ND) | 30 dB hearing loss | Family A; Table 1\. |
| 463 | 3243 | m.3243A\>G | A3243G\-F204 | A3243G\-F204\-P10 | Fam | F | N | Y | A | 26 | 17% | / | / | 30%(ND) | 40 dB hearing loss and albuminuria | Family A; Table 1 and text on albuminuria in A\-IV\-9\. |
| 464 | 3243 | m.3243A\>G | A3243G\-F204 | A3243G\-F204\-P11 | Fam | F | N | N | A | 2 | / | / | / | / | Healthy | No molecular testing in child; included because mother has confirmed mutation load and child phenotype is explicitly reported; Not affected/open symbol in Figure 1; child of target\-positive mother A\-IV\-8 |
| 465 | 3243 | m.3243A\>G | A3243G\-F204 | A3243G\-F204\-P12 | Fam | F | N | N | A | 1 | / | / | / | / | Healthy | No molecular testing in child; included because mother has confirmed mutation load and child phenotype is explicitly reported; Not affected/open symbol in Figure 1; child of target\-positive mother A\-IV\-8 |
| 466 | 3243 | m.3243A\>G | A3243G\-F204 | A3243G\-F204\-P13 | Fam | M | N | N | A | 1 | / | / | / | / | Healthy | No molecular testing in child; included because mother has confirmed mutation load and child phenotype is explicitly reported; Not affected/open symbol in Figure 1; child of target\-positive mother A\-IV\-9 |
| 467 | 3243 | m.3243A\>G | A3243G\-F205 | A3243G\-F205\-P1 | Fam | F | Y | Y | A | 34 | 34% | / | / | 32%(ND) | Diabetes, hearing impairment, renal transplant and arterial hypertension | Family B arrowed proband; Table 1\. |
| 468 | 3243 | m.3243A\>G | A3243G\-F205 | A3243G\-F205\-P2 | Fam | M | N | N | A | 2 | / | / | / | / | Healthy | No molecular testing in child; included because mother has confirmed mutation load and child phenotype is explicitly reported; Not affected/open symbol in Figure 1; child of target\-positive mother B\-IV\-3 |
| 469 | 3243 | m.3243A\>G | A3243G\-F205 | A3243G\-F205\-P3 | Fam | F | N | N | A | 0 | / | / | / | / | Healthy | No molecular testing in child; included because mother has confirmed mutation load and child phenotype is explicitly reported; Not affected/open symbol in Figure 1; child of target\-positive mother B\-IV\-3 |
| 470 | 3243 | m.3243A\>G | A3243G\-F206 | A3243G\-F206\-P1 | Fam | F | Y | Y | A | 41 | 18% | / | / | 32%(ND) | Diabetes, hearing impairment, renal transplant and arterial hypertension | Family C arrowed proband; Table 1\. |
| 471 | 3243 | m.3243A\>G | A3243G\-F206 | A3243G\-F206\-P2 | Fam | F | N | Y | A | 69 | 4% | / | / | 7%(ND) | Normal OGTT; 60 dB sensorineural hearing loss | Family C maternal relative and target\-positive mother of C\-IV\-3; Table 1\. |
| 472 | 3243 | m.3243A\>G | A3243G\-F206 | A3243G\-F206\-P3 | Fam | F | N | N | A | 43 | / | / | / | / | Healthy | No molecular testing in child; included because mother has confirmed mutation load and child phenotype is explicitly reported; Not affected/open symbol in Figure 1; child of target\-positive mother C\-III\-1 |
| 473 | 3243 | m.3243A\>G | A3243G\-F206 | A3243G\-F206\-P4 | Fam | F | N | N | A | 43 | / | / | / | / | Healthy | No molecular testing in child; included because mother has confirmed mutation load and child phenotype is explicitly reported; Not affected/open symbol in Figure 1; child of target\-positive mother C\-III\-1 |
| 474 | 3243 | m.3243A\>G | A3243G\-F206 | A3243G\-F206\-P5 | Fam | F | N | N | A | 31 | / | / | / | / | Healthy | No molecular testing in child; included because mother has confirmed mutation load and child phenotype is explicitly reported; Not affected/open symbol in Figure 1; child of target\-positive mother C\-III\-1 |
| 475 | 3243 | m.3243A\>G | A3243G\-F206 | A3243G\-F206\-P6 | Fam | F | N | N | A | 11 | / | / | / | / | Healthy | No molecular testing in child; included because mother has confirmed mutation load and child phenotype is explicitly reported; Not affected/open symbol in Figure 1; child of target\-positive mother C\-IV\-3 |
| 476 | 3243 | m.3243A\>G | A3243G\-F207 | A3243G\-F207\-P1 | Fam | M | Y | Y | A | 6 | 68% | 88% | / | / | Severe dilated cardiomyopathy, lactic acidosis, short stature, vomiting/fatigue, and abundant ragged\-red fibers in muscle | Arrowed proband in Figure 1; A3243G accounted for 88% of muscle mtDNA and 68% of blood mtDNA. |
| 477 | 3243 | m.3243A\>G | A3243G\-F207 | A3243G\-F207\-P2 | Fam | F | N | Y | A | 36 | 43% | / | / | / | Oligosymptomatic mother with affective disorder history and mild hyperlactacidemia | Figure 1 dark symbol; blood A3243G was 43%. |
| 478 | 3243 | m.3243A\>G | A3243G\-F207 | A3243G\-F207\-P3 | Fam | M | N | N | A | 10 | 49% | / | / | / | Healthy | Figure 1 dark symbol; text reports lower percentage in blood from the older brother as 49%, not 4\.9%; Asymptomatic older brother with mild hyperlactacidemia |
| 479 | 3243 | m.3243A\>G | A3243G\-F208 | A3243G\-F208\-P1 | Uninf | F | Y | Y | ND | 53 | / | / | / | / | Diabetes onset 38; Insulin treatment; Hearing loss; ECG and UCG abnormal; Cardiac disorder | Subject 1; peripheral leukocyte DNA PCR/ApaI/sequencing detected M3243A\>G; exact heteroplasmy not reported. |
| 480 | 3243 | m.3243A\>G | A3243G\-F209 | A3243G\-F209\-P1 | Uninf | F | Y | Y | ND | 40 | / | / | / | / | Diabetes onset 28; Insulin treatment; Hearing loss; ECG abnormal; Anti\-GAD positive | Subject 2; peripheral leukocyte DNA PCR/ApaI/sequencing detected M3243A\>G; exact heteroplasmy not reported. |
| 481 | 3243 | m.3243A\>G | A3243G\-F210 | A3243G\-F210\-P1 | Uninf | F | Y | Y | ND | 52 | / | / | / | / | Diabetes onset 42; Insulin treatment; Hearing loss; ECG and UCG abnormal; Cardiac disorder | Subject 3; peripheral leukocyte DNA PCR/ApaI/sequencing detected M3243A\>G; exact heteroplasmy not reported. |
| 482 | 3243 | m.3243A\>G | A3243G\-F211 | A3243G\-F211\-P1 | Uninf | F | Y | Y | ND | 65 | / | / | / | / | Diabetes onset 56; Diet therapy; Hearing loss; ECG abnormal; Cardiac disorder | Subject 4; peripheral leukocyte DNA PCR/ApaI/sequencing detected M3243A\>G; exact heteroplasmy not reported. |
| 483 | 3243 | m.3243A\>G | A3243G\-F212 | A3243G\-F212\-P1 | Fam | F | Y | Y | A | 48 | 8% | / | / | 6%(Blood); 18%(H); 11%(BM) | NIDDM for 21 years, neurosensory hearing loss from age 35, bilateral macular pattern retinal dystrophy | Patient I, the proband; quantitative A3243G heteroplasmy measured in blood, hair follicles, and buccal cells. |
| 484 | 3243 | m.3243A\>G | A3243G\-F212 | A3243G\-F212\-P2 | Fam | M | N | Y | A | 47 | 12% | / | / | 33%(Blood); 30%(H); 25%(BM) | Adult\-onset neurosensory hearing loss from age 37, NIDDM, abnormal ECG/stress test findings and hypertension; No pattern dystrophy | Patient II, proband's brother; quantitative A3243G heteroplasmy measured in blood, hair follicles, and buccal cells. |
| 485 | 3243 | m.3243A\>G | A3243G\-F212 | A3243G\-F212\-P3 | Fam | M | N | Y | A | 28 | 23% | / | / | 15%(Blood); 16%(H); 18%(BM) | Normal eye examination, normal hearing, and no history or symptoms of diabetes mellitus | Patient III, proband's son; currently asymptomatic but A3243G\-positive in blood, hair follicles, and buccal cells. |
| 486 | 3243 | m.3243A\>G | A3243G\-F213 | A3243G\-F213\-P1 | Uninf | M | Y | Y | A | 35 | 36% | / | / | / | Non\-insulin\-dependent diabetes mellitus from age 30; Bilateral sensorineural deafness from age 27; Cerebellar ataxia, dysarthria, mild mental deficiency, mild muscle weakness, hyporeflexia, and cerebellar atrophy on MRI | PCR/RFLP of isolated leukocyte DNA showed heteroplasmic A3243G at 36%; nt8344 and nt8993 were undetectable. |
| 487 | 3243 | m.3243A\>G | A3243G\-F214 | A3243G\-F214\-P1 | Fam | M | Y | Y | ND | 10 | / | 73% | / | / | Leigh syndrome\-like encephalopathy; Seizures from 5 yr; Mental deterioration; Extrapyramidal signs; Gait ataxia; Basal ganglia CT lesions; Complex I/IV deficiency | Case 2; A3243G detected in 73% of muscle mitochondrial genomes. |
| 488 | 3243 | m.3243A\>G | A3243G\-F214 | A3243G\-F214\-P2 | Fam | F | N | ND | ND | ND | / | / | / | / | ND | Mother; mutation found in relatives, but tissue, load, and phenotype are not reported. |
| 489 | 3243 | m.3243A\>G | A3243G\-F214 | A3243G\-F214\-P3 | Fam | M | N | ND | ND | ND | / | / | / | / | ND | Brother; mutation found in relatives, but tissue, load, and phenotype are not reported. |
| 490 | 3243 | m.3243A\>G | A3243G\-F214 | A3243G\-F214\-P4 | Fam | F | N | ND | ND | ND | / | / | / | / | ND | Sister; mutation found in relatives, but tissue, load, and phenotype are not reported. |
| 491 | 3243 | m.3243A\>G | A3243G\-F215 | A3243G\-F215\-P30 | Uninf | ND | Y | Y | ND | ND | / | / | / | 30%(Cell line) | MELAS syndrome; Individual clinical details not reported | P30 patient\-derived cell line; lymphocytes were isolated from blood, transformed with EBV, and the stable cell line harbored 30% mutated DNA. |
| 492 | 3243 | m.3243A\>G | A3243G\-F216 | A3243G\-F216\-P70 | Uninf | ND | Y | Y | ND | ND | / | / | / | 70%(Cell line) | MELAS syndrome; Individual clinical details not reported | P70 patient\-derived cell line; lymphocytes were isolated from blood, transformed with EBV, and the stable cell line harbored 70% mutated DNA. |
| 493 | 3243 | m.3243A\>G | A3243G\-F217 | A3243G\-F217\-P1 | Fam | M | Y | Y | A | 52 | 20% | 55% | / | / | Diabetes onset at 35; Insulin dependency at 48; Severe macular pattern dystrophy; High\-frequency hearing impairment; Mild muscular involvement; Ragged red fibers; Respiratory complex I residual activity 52% | Table 1 A3243G comparator proband; text describes the third A3243G pedigree proband as a 52\-year\-old male. |
| 494 | 3243 | m.3243A\>G | A3243G\-F218 | A3243G\-F218\-P1 | Fam | ND | Y | Y | A | 25 | 11% | 74% | / | / | Diabetes onset at 25; Insulin dependency at 40; Severe macular pattern dystrophy; Deafness; Infraclinical muscular involvement; Ragged red fibers; Respiratory complex I/IV/III defects | Table 1 A3243G comparator proband; exact evaluation age is not reported, so diabetes\-onset age is used. |
| 495 | 3243 | m.3243A\>G | A3243G\-F219 | A3243G\-F219\-P1 | Fam | ND | Y | Y | A | 23 | 33% | 60% | / | / | Diabetes onset at 23; Insulin dependency at 23; Severe macular pattern dystrophy; Deafness; Infraclinical muscular involvement; Ragged red fibers; Respiratory complex I residual activity \<1% and complex IV 4\.7% | Table 1 A3243G comparator proband; exact evaluation age is not reported, so diabetes\-onset age is used. |
| 496 | 3243 | m.3243A\>G | A3243G\-F220 | A3243G\-F220\-P1 | Uninf | F | Y | Y | ND | ND | / | / | / | / | Type 2 diabetes with sensorineural auditory disturbance; Individual details not otherwise reported | One female patient among 35 Japanese diabetic/IGT patients with auditory disturbance had the 3243 mutation by peripheral leukocyte PCR/RFLP. |
| 497 | 3243 | m.3243A\>G | A3243G\-F221 | A3243G\-F221\-P1 | Fam | M | Y | Y | A | 37 | / | / | / | / | Diabetes mellitus; Sensorineural hearing loss; Short stature; Wolff\-Parkinson\-White syndrome; Cardiomyopathy; Psychiatric symptoms including auditory hallucination, delusions, loss of initiative, blunted affect and personality change | Figure 1 leukocyte PCR/Apa I analysis detected A3243G; the proportion of mutant mtDNA was not investigated. |
| 498 | 3243 | m.3243A\>G | A3243G\-F222 | A3243G\-F222\-P1 | Fam | M | Y | Y | A | 30 | 1%; 30% | / | / | / | IDDM onset 27; Diabetic ketoacidosis; Bilateral sensorineural hearing loss; Mother and sister had diabetes | Patient 1; Figure 1 positive; individual heteroplasmy percentage not separately reported. |
| 499 | 3243 | m.3243A\>G | A3243G\-F223 | A3243G\-F223\-P2 | Uninf | F | Y | Y | A | 35 | 1%; 30% | / | / | / | IDDM onset 30; Hyperglycaemia and heavy ketonuria; Insulin treatment; Mild bilateral sensorineural hearing loss | Patient 2; Figure 1 positive; individual heteroplasmy percentage not separately reported. |
| 500 | 3243 | m.3243A\>G | A3243G\-F224 | A3243G\-F224\-P3 | Fam | F | Y | Y | A | 34 | 1%; 30% | / | / | / | NIDDM onset 32; Oral hypoglycaemic agents; Audiometry normal; Mother and sisters had diabetes/IGT or deafness | Patient 3; Figure 1 positive; individual heteroplasmy percentage not separately reported. |
| 501 | 3243 | m.3243A\>G | A3243G\-F224 | A3243G\-F224\-P1 | Fam | F | N | Y | ND | ND | 0 | / | / | / | Diabetes and sensorineural deafness | Patient 3's mother; mt3243 not detected in leucocyte DNA by Figure 1/text; included as eligible negative\-tested maternal\-line relative under mother\-level inference. |
| 502 | 3243 | m.3243A\>G | A3243G\-F224 | A3243G\-F224\-P2 | Fam | F | N | Y | ND | ND | 0 | / | / | / | NIDDM | Patient 3's sister with NIDDM; mt3243 not detected in leucocyte DNA by Figure 1/text. |
| 503 | 3243 | m.3243A\>G | A3243G\-F224 | A3243G\-F224\-P4 | Fam | F | N | Y | ND | ND | 0 | / | / | / | IGT and sensorineural deafness | Patient 3's sister with impaired glucose tolerance and sensorineural deafness; mt3243 not detected in leucocyte DNA by Figure 1/text. |
| 504 | 3243 | m.3243A\>G | A3243G\-F224 | A3243G\-F224\-P5 | Fam | M | N | N | ND | ND | 0 | / | / | / | Non\-diabetic son | Patient 3's son; mt3243 not detected in leucocyte DNA by Figure 1/text; eligible negative\-tested child of target\-positive mother. |
| 505 | 3243 | m.3243A\>G | A3243G\-F225 | A3243G\-F225\-P4 | Uninf | M | Y | Y | A | 24 | 1%; 30% | / | / | / | NIDDM onset 22; Oral hypoglycaemic agents; No personal deafness; NIDDM and deafness | Patient 4; Figure 1 positive; individual heteroplasmy percentage not separately reported; mother had |
| 506 | 3243 | m.3243A\>G | A3243G\-F226 | A3243G\-F226\-P1 | Fam | M | Y | Y | A | 61 | / | / | / | / | NIDDM; Diabetes onset at 46; Hearing impairment; Gliclazide therapy | Table 2 case 1; one of seven A3243G\-positive screening cases. |
| 507 | 3243 | m.3243A\>G | A3243G\-F227 | A3243G\-F227\-P2 | Fam | M | Y | Y | A | 63 | / | / | / | / | NIDDM; Diabetes onset at 40; No hearing impairment; Insulin therapy | Table 2 case 2; one of seven A3243G\-positive screening cases. |
| 508 | 3243 | m.3243A\>G | A3243G\-F228 | A3243G\-F228\-P3 | Fam | F | Y | Y | A | 53 | / | / | / | / | NIDDM; Diabetes onset at 49; No hearing impairment; Insulin therapy | Table 2 case 3; one of seven A3243G\-positive screening cases. |
| 509 | 3243 | m.3243A\>G | A3243G\-F229 | A3243G\-F229\-P4 | Fam | F | Y | Y | A | 50 | / | / | / | / | NIDDM; Diabetes onset at 34; Hearing impairment; Insulin therapy | Table 2 case 4; one of seven A3243G\-positive screening cases. |
| 510 | 3243 | m.3243A\>G | A3243G\-F230 | A3243G\-F230\-P5 | Fam | F | Y | Y | A | 53 | / | / | / | / | NIDDM; Diabetes onset at 34; Hearing impairment; Insulin therapy | Table 2 case 5; one of seven A3243G\-positive screening cases. |
| 511 | 3243 | m.3243A\>G | A3243G\-F231 | A3243G\-F231\-P6 | Fam | F | Y | Y | A | 57 | / | / | / | / | IDDM; Diabetes onset at 46; Hearing impairment; Insulin therapy | Table 2 case 6; one of seven A3243G\-positive screening cases. |
| 512 | 3243 | m.3243A\>G | A3243G\-F232 | A3243G\-F232\-P7 | Fam | M | Y | Y | A | 32 | / | / | / | / | NIDDM; Diabetes onset at 30; Hearing impairment; Insulin therapy | Table 2 case 7; one of seven A3243G\-positive screening cases. |
| 513 | 3243 | m.3243A\>G | A3243G\-F233 | A3243G\-F233\-P1 | Fam | M | Y | Y | D | 39 | 31% | 53% | / | 63%(ND) | Diabetes mellitus from age 29; MELAS from age 31 with recurrent stroke\-like episodes; Chronic diarrhea in late disease; Died at age 39; Pancreatic necropsy showed degenerated mitochondria | Figure 1 reports white blood cell, quadriceps and pancreas A3243G loads; bentiromide/PABA test was not available because of poor condition. |
| 514 | 3243 | m.3243A\>G | A3243G\-F234 | A3243G\-F234\-P1 | Fam | F | Y | Y | A | 52 | 16% | / | / | / | Diabetes mellitus from age 50; Pancreatic exocrine dysfunction by bentiromide test with urinary PABA recovery 68% | Figure 1 Family B proband/mother; blood A3243G load 16%. |
| 515 | 3243 | m.3243A\>G | A3243G\-F234 | A3243G\-F234\-P2 | Fam | M | N | Y | A | 24 | 37% | / | / | / | Wolff\-Parkinson\-White syndrome from age 5; Slight decrease in hearing threshold from age 20; Impaired glucose tolerance at age 24; Urinary PABA recovery 19% | Figure 1 Family B son of target\-positive B\-I; blood A3243G load 37%. |
| 516 | 3243 | m.3243A\>G | A3243G\-F235 | A3243G\-F235\-P1 | Fam | F | Y | Y | A | 55 | 6% | / | / | / | Diabetes mellitus from age 53; Pancreatic exocrine dysfunction by bentiromide test with urinary PABA recovery 50% | Figure 1 Family C proband/mother; blood A3243G load 6%. |
| 517 | 3243 | m.3243A\>G | A3243G\-F235 | A3243G\-F235\-P2 | Fam | M | N | Y | A | 25 | 44% | / | / | / | MELAS with stroke\-like episodes and hemianopia from age 21; Diabetes mellitus from age 23; Urinary PABA recovery 40% | Figure 1 Family C son of target\-positive C\-I; blood A3243G load 44%. |
| 518 | 3243 | m.3243A\>G | A3243G\-F236 | A3243G\-F236\-P1 | Uninf | F | Y | Y | D | 31 | / | 60% | / | / | MELAS with psychiatric symptoms, paranoid behavior, hallucinations, stroke\-like episodes, headaches, confusion, aphasia/apraxia, retrocochlear deafness, focal seizures, WPW, ragged\-red fibers and cognitive decline | Found dead at age 31, probably acute heart failure. |
| 519 | 3243 | m.3243A\>G | A3243G\-F237 | A3243G\-F237\-III1 | Uninf | M | Y | Y | A | 21 | 37%; 36%; 48% | 79% | / | 49%(ND) | Kearns\-Sayre/MELAS overlap with progressive external ophthalmoplegia, pigmentary retinopathy, right bundle branch block, bilateral neuronal hearing impairment, recurrent stroke\-like episodes from age 18, seizures, muscle weakness/atrophy, lactic acidosis, short stature, PDHC deficiency and respirato | Figure 1 labels the patient as III.1\. Figure 3 and text report A3243G loads by tissue; mother was wildtype/\<5% in leukocyte mtDNA. |
| 520 | 3243 | m.3243A\>G | A3243G\-F238 | A3243G\-F238\-P1 | Uninf | F | Y | Y | A | 32 | / | / | / | / | Diabetes mellitus onset age 29; BMI 14\.4; Insulin treatment; No diabetic complications listed; No hearing impairment; Fasting C\-peptide 0\.9 ng/ml; 6\-min glucagon\-stimulated C\-peptide 1\.9 ng/ml | Original paper label: patient 1/lane 6\. |
| 521 | 3243 | m.3243A\>G | A3243G\-F239 | A3243G\-F239\-P1 | Uninf | F | Y | Y | A | 39 | / | / | / | / | Diabetes mellitus onset age 35; BMI 17\.0; Insulin treatment; No diabetic complications listed; No hearing impairment; Fasting C\-peptide 0\.9 ng/ml; 6\-min glucagon\-stimulated C\-peptide 1\.6 ng/ml | Original paper label: patient 2/lane 7\. |
| 522 | 3243 | m.3243A\>G | A3243G\-F240 | A3243G\-F240\-P1 | Fam | ND | N | Y | A | 49 | 1\.3% | / | / | / | Diabetes onset 29; Insulin from 30; SNHL onset 30; Needs hearing aid | Whole\-blood heteroplasmy percentage from Table 1/Figure 1\. |
| 523 | 3243 | m.3243A\>G | A3243G\-F240 | A3243G\-F240\-P2 | Fam | ND | N | Y | A | 46 | 3% | / | / | / | Diabetes onset 45; SNHL onset 45 | Whole\-blood heteroplasmy percentage from Table 1/Figure 1\. |
| 524 | 3243 | m.3243A\>G | A3243G\-F240 | A3243G\-F240\-P3 | Fam | ND | N | Y | A | 44 | 6% | / | / | / | Diabetes onset 15; Insulin from 24; SNHL onset 17; Needs hearing aid | Whole\-blood heteroplasmy percentage from Table 1/Figure 1\. |
| 525 | 3243 | m.3243A\>G | A3243G\-F240 | A3243G\-F240\-P4 | Fam | ND | Y | Y | A | 39 | 6% | / | / | / | IGT at 39; SNHL onset 39 | Whole\-blood heteroplasmy percentage from Table 1/Figure 1; arrowed proband in pedigree |
| 526 | 3243 | m.3243A\>G | A3243G\-F240 | A3243G\-F240\-P5 | Fam | ND | N | Y | A | 26 | 6% | / | / | / | Normal OGTT and normal hearing | Whole\-blood heteroplasmy percentage from Table 1/Figure 1\. |
| 527 | 3243 | m.3243A\>G | A3243G\-F240 | A3243G\-F240\-P6 | Fam | ND | N | Y | A | 22 | 3% | / | / | / | IGT at 22; Normal hearing | Whole\-blood heteroplasmy percentage from Table 1/Figure 1\. |
| 528 | 3243 | m.3243A\>G | A3243G\-F241 | A3243G\-F241\-P1 | Fam | ND | N | Y | A | 69 | 2% | / | / | / | Normal OGTT; SNHL onset 67; Needs hearing aid | Whole\-blood heteroplasmy percentage from Table 1/Figure 1\. |
| 529 | 3243 | m.3243A\>G | A3243G\-F241 | A3243G\-F241\-P2 | Fam | ND | N | Y | A | 65 | 1\.6% | / | / | / | No diabetes or SNHL reported | Whole\-blood heteroplasmy percentage from Table 1/Figure 1\. |
| 530 | 3243 | m.3243A\>G | A3243G\-F241 | A3243G\-F241\-P3 | Fam | ND | N | Y | A | 36 | 1\.3% | / | / | / | No diabetes or SNHL reported | Whole\-blood heteroplasmy percentage from Table 1/Figure 1\. |
| 531 | 3243 | m.3243A\>G | A3243G\-F241 | A3243G\-F241\-P4 | Fam | ND | Y | Y | A | 34 | 1\.3% | / | / | / | Diabetes onset 33; Insulin from 33; SNHL onset 20; Needs hearing aid; Arrowed proband | Whole\-blood heteroplasmy percentage from Table 1/Figure 1\. |
| 532 | 3243 | m.3243A\>G | A3243G\-F242 | A3243G\-F242\-P1 | Fam | ND | N | Y | A | 76 | 3% | / | / | / | Diabetes onset 70; SNHL onset 65; Needs hearing aid | Whole\-blood heteroplasmy percentage from Table 1/Figure 1\. |
| 533 | 3243 | m.3243A\>G | A3243G\-F242 | A3243G\-F242\-P2 | Fam | ND | N | Y | A | 74 | 6% | / | / | / | Diabetes onset 53; Insulin from 62; SNHL onset 69; Needs hearing aid | Whole\-blood heteroplasmy percentage from Table 1/Figure 1\. |
| 534 | 3243 | m.3243A\>G | A3243G\-F242 | A3243G\-F242\-P3 | Fam | ND | N | Y | A | 55 | 0\.8% | / | / | / | Diabetes onset 50; Insulin from 52; SNHL onset 20; Needs hearing aid | Whole\-blood heteroplasmy percentage from Table 1/Figure 1\. |
| 535 | 3243 | m.3243A\>G | A3243G\-F242 | A3243G\-F242\-P4 | Fam | ND | N | Y | A | 54 | 4% | / | / | / | Diabetes onset 12 interpreted as intercurrent type 1 diabetes; SNHL onset 54 | Whole\-blood heteroplasmy percentage from Table 1/Figure 1\. |
| 536 | 3243 | m.3243A\>G | A3243G\-F242 | A3243G\-F242\-P5 | Fam | ND | N | Y | A | 55 | 4% | / | / | / | Diabetes onset 46; Insulin from 50; SNHL onset 54; Needs hearing aid | Whole\-blood heteroplasmy percentage from Table 1/Figure 1\. |
| 537 | 3243 | m.3243A\>G | A3243G\-F242 | A3243G\-F242\-P6 | Fam | ND | N | Y | A | 47 | 3% | / | / | / | Diabetes onset 34; Insulin from 34; SNHL onset 47 | Whole\-blood heteroplasmy percentage from Table 1/Figure 1\. |
| 538 | 3243 | m.3243A\>G | A3243G\-F242 | A3243G\-F242\-P7 | Fam | ND | N | Y | A | 45 | 0\.6% | / | / | / | Diabetes onset 16; Insulin from 16; SNHL onset 30; Needs hearing aid | Whole\-blood heteroplasmy percentage from Table 1/Figure 1\. |
| 539 | 3243 | m.3243A\>G | A3243G\-F242 | A3243G\-F242\-P8 | Fam | ND | N | Y | A | 43 | 15% | / | / | / | Diabetes onset 18; Insulin from 18; SNHL onset 43 | Whole\-blood heteroplasmy percentage from Table 1/Figure 1\. |
| 540 | 3243 | m.3243A\>G | A3243G\-F242 | A3243G\-F242\-P9 | Fam | ND | Y | Y | A | 30 | 2% | / | / | / | Diabetes onset 25; Insulin from 25; SNHL onset 15; Needs hearing aid; Arrowed proband | Whole\-blood heteroplasmy percentage from Table 1/Figure 1\. |
| 541 | 3243 | m.3243A\>G | A3243G\-F242 | A3243G\-F242\-P10 | Fam | ND | N | Y | A | 28 | 2% | / | / | / | Gestational diabetes at 28; SNHL onset 13; Needs hearing aid | Whole\-blood heteroplasmy percentage from Table 1/Figure 1\. |
| 542 | 3243 | m.3243A\>G | A3243G\-F242 | A3243G\-F242\-P11 | Fam | ND | N | Y | A | 35 | 9% | / | / | / | Gestational diabetes at 32 | Whole\-blood heteroplasmy percentage from Table 1/Figure 1; pedigree shows affected carrier |
| 543 | 3243 | m.3243A\>G | A3243G\-F242 | A3243G\-F242\-P12 | Fam | ND | N | Y | A | 33 | 3% | / | / | / | No diabetes or SNHL reported | Whole\-blood heteroplasmy percentage from Table 1/Figure 1\. |
| 544 | 3243 | m.3243A\>G | A3243G\-F242 | A3243G\-F242\-P13 | Fam | ND | N | Y | A | 19 | 3% | / | / | / | Normal OGTT and normal hearing | Whole\-blood heteroplasmy percentage from Table 1/Figure 1\. |
| 545 | 3243 | m.3243A\>G | A3243G\-F243 | A3243G\-F243\-P1 | Fam | F | Y | Y | A | 28 | 23% | 67% | / | / | Epilepsy; Cognitive decline; Hearing impairment; Basal\-ganglia calcifications; Short stature | Table 3 family 1 proband; family history: hearing impairment, diabetes, cognitive decline, epilepsy, short stature. |
| 546 | 3243 | m.3243A\>G | A3243G\-F244 | A3243G\-F244\-P2 | Fam | M | Y | Y | A | 28 | 42% | 83% | / | / | Epilepsy; Hearing impairment; Basal\-ganglia calcifications; Occipital stroke; Hypertrophic cardiomyopathy | Table 3 family 2 proband; family history: hearing impairment, diabetes. |
| 547 | 3243 | m.3243A\>G | A3243G\-F245 | A3243G\-F245\-P3 | Fam | F | Y | Y | A | 21 | 26% | 60% | / | / | Hearing impairment; Ataxia; Ophthalmoplegia; Diabetes; Cardiomyopathy | Table 3 family 3 proband; family history: diabetes. |
| 548 | 3243 | m.3243A\>G | A3243G\-F246 | A3243G\-F246\-P4 | Fam | F | Y | Y | A | 18 | 51% | 89% | / | / | Hearing impairment; Diabetes; Cognitive decline; Epilepsy; Short stature | Table 3 family 4 proband; family history: hearing impairment, diabetes, short stature. |
| 549 | 3243 | m.3243A\>G | A3243G\-F247 | A3243G\-F247\-P5 | Fam | M | Y | Y | A | 48 | 14% | 58% | / | / | Cognitive decline; Short stature; Polyneuropathy | Table 3 family 5 proband; family history: diabetes, basal\-ganglia calcifications. |
| 550 | 3243 | m.3243A\>G | A3243G\-F248 | A3243G\-F248\-P6 | Fam | F | Y | Y | A | 32 | 0% | 38% | / | / | Ophthalmoplegia | Table 3 family 6 proband; family history: ophthalmoplegia. Blood heteroplasmy is reported as 0% while muscle is 38%. |
| 551 | 3243 | m.3243A\>G | A3243G\-F249 | A3243G\-F249\-P7 | Fam | M | Y | Y | A | 13 | 39% | 89% | / | / | Hearing impairment; Short stature; Cognitive decline | Table 3 family 7 proband; family history: hearing impairment, diabetes, short stature. |
| 552 | 3243 | m.3243A\>G | A3243G\-F250 | A3243G\-F250\-P8 | Fam | F | Y | Y | A | 26 | 40% | 72% | / | / | Hearing impairment | Table 3 family 8 proband; family history: hearing impairment. |
| 553 | 3243 | m.3243A\>G | A3243G\-F251 | A3243G\-F251\-P9 | Fam | F | Y | Y | A | 43 | 18% | 77% | / | / | Hearing impairment | Table 3 family 9 proband; family history: hearing impairment. |
| 554 | 3243 | m.3243A\>G | A3243G\-F252 | A3243G\-F252\-P10 | Fam | F | Y | Y | A | 24 | 6% | 10% | / | / | Ophthalmoplegia | Table 3 family 10 proband; family history: ophthalmoplegia. |
| 555 | 3243 | m.3243A\>G | A3243G\-F253 | A3243G\-F253\-P11 | Fam | F | Y | Y | A | 37 | 9% | 31% | / | / | Hearing impairment; Short stature | Table 3 family 11 proband; family history: hearing impairment, short stature. |
| 556 | 3243 | m.3243A\>G | A3243G\-F254 | A3243G\-F254\-P1 | Uninf | M | Y | Y | D | 15 | / | 80\.9% | / | / | MELAS with seizures, severe fatigue, stroke\-like episodes, dementia, muscle weakness; Died of respiratory failure at age 15; Diabetes | Table 1 and Results; homogenized muscle mutant mtDNA 80\.9%; single muscle fiber analysis also reported; mother had |
| 557 | 3243 | m.3243A\>G | A3243G\-F255 | A3243G\-F255\-P2 | Fam | M | Y | Y | ND | 68 | / | 60\.4% | / | / | MELAS; Hearing loss, insulin\-dependent diabetes mellitus, transient hemiplegia, dementia, increased CSF lactate/pyruvate; Younger and elder sisters had diabetes | Table 1 and Results; homogenized muscle mutant mtDNA 60\.4%; sisters counted only for G/H because they were not molecularly tested. |
| 558 | 3243 | m.3243A\>G | A3243G\-F256 | A3243G\-F256\-P3 | Uninf | M | Y | Y | ND | 35 | / | 62\.6% | / | / | MELAS; Insulin\-dependent diabetes mellitus, hearing loss, stroke\-like episodes, dementia, lactic acidosis | Table 1 and Results; homogenized muscle mutant mtDNA 62\.6%; family history noncontributory |
| 559 | 3243 | m.3243A\>G | A3243G\-F257 | A3243G\-F257\-P1 | Uninf | M | Y | Y | ND | 51 | / | 23\.7% | / | / | Mitochondrial diabetes mellitus; Insulin\-dependent diabetes mellitus and hearing loss without neurological symptoms | Table 1 and Results; homogenized muscle mutant mtDNA 23\.7%; reported family history lacks relationship and molecular detail; family history of diabetes |
| 560 | 3243 | m.3243A\>G | A3243G\-F258 | A3243G\-F258\-P1 | Uninf | M | Y | Y | ND | 43 | / | 38\.6% | / | / | Mitochondrial diabetes mellitus; Insulin\-dependent diabetes mellitus and hearing loss without neurological symptoms | Table 1 and Results; homogenized muscle mutant mtDNA 38\.6%. |
| 561 | 3243 | m.3243A\>G | A3243G\-F259 | A3243G\-F259\-P1 | Uninf | F | Y | Y | D | 47 | / | / | / | / | MELAS; Paranoid schizophrenia; Migraine headaches; Deafness; Stroke\-like episode/left temporal infarct; Seizure; Autopsy with mild cerebral atrophy, gliosis, basal ganglia calcification and vascular sclerosis | Rendered page confirms mtDNA tRNA\-Leu(UUR) position 3243 mutation; exact tested tissue and heteroplasmy load not reported. |
| 562 | 3243 | m.3243A\>G | A3243G\-F260 | A3243G\-F260\-P1 | De novo | M | Y | Y | A | 28 | 33% | / | / | 78%(ND); 53%(ND) | Short stature; Autoimmune IDDM from age 23; Stroke\-like episodes; Lactic acidosis; Mitochondrial cardiomyopathy; Impaired cognition; Bilateral sensorineural hearing impairment | PCR\-RFLP/sequencing confirmed heteroplasmic A3243G; brother, father, mother and aunt were negative in peripheral blood. |
| 563 | 3243 | m.3243A\>G | A3243G\-F261 | A3243G\-F261\-P1 | Uninf | F | Y | Y | A | 55 | 65% | 71% | / | / | Repeated respiratory failure; Severe respiratory dysfunction; Mitochondrial myopathy; Many ragged\-red fibers; Mild limb muscle involvement | Rendered pages confirm A3243G in blood and muscle by PCR/ApaI analysis; no pedigree/family figure. |
| 564 | 3243 | m.3243A\>G | A3243G\-F262 | A3243G\-F262\-I1 | Uninf | F | Y | Y | A | 58 | / | / | / | 11%(ND) | Diabetes onset 45; Hearing loss complaint; Morbus Parkinson | Original label MH54\. |
| 565 | 3243 | m.3243A\>G | A3243G\-F262 | A3243G\-F262\-II1 | Fam | M | N | Y | A | 38 | / | / | / | 35%(ND) | Diabetes onset 35; Insulin therapy; Labyrinthine hearing loss | Original label MH45\. |
| 566 | 3243 | m.3243A\>G | A3243G\-F262 | A3243G\-F262\-II2 | Fam | F | N | Y | A | 37 | / | / | / | 18%(ND) | Epilepsy; No diabetes, impaired glucose tolerance or hearing loss reported | Original label MH56\. |
| 567 | 3243 | m.3243A\>G | A3243G\-F262 | A3243G\-F262\-II3 | Fam | F | N | Y | A | 19 | / | / | / | 25%(ND) | Healthy; No diabetes, impaired glucose tolerance or hearing loss reported | Original label MH55\. |
| 568 | 3243 | m.3243A\>G | A3243G\-F262 | A3243G\-F262\-II4 | Fam | M | N | Y | A | 27 | / | / | / | 17%(ND) | No diabetes, impaired glucose tolerance or hearing loss reported | Original label MH51\. |
| 569 | 3243 | m.3243A\>G | A3243G\-F263 | A3243G\-F263\-I1 | Uninf | F | Y | Y | A | 63 | / | / | / | 10%(ND) | Diabetes onset 46; Hearing loss; Epilepsy; Morbus Addison | Original label MH31\. |
| 570 | 3243 | m.3243A\>G | A3243G\-F263 | A3243G\-F263\-II1 | Fam | M | N | Y | A | 41 | / | / | / | 5%(ND) | Impaired glucose tolerance at 41; Middle\-ear hearing loss | Original label MH35\. |
| 571 | 3243 | m.3243A\>G | A3243G\-F263 | A3243G\-F263\-II3 | Fam | M | N | Y | A | 32 | / | / | / | 0%(ND) | No diabetes, impaired glucose tolerance or hearing loss reported | Original label MH34\. |
| 572 | 3243 | m.3243A\>G | A3243G\-F264 | A3243G\-F264\-P1 | Uninf | F | Y | Y | A | 27 | / | / | / | / | Focal\-segmental glomerulosclerosis; Renal dysfunction/proteinuria; Hypertrophic cardiomyopathy/heart failure; Short stature; Mild sensorineural hearing loss; Ragged\-red fibers | / |
| 573 | 3243 | m.3243A\>G | A3243G\-F265 | A3243G\-F265\-I1 | Uninf | F | Y | Y | D | 60 | / | / | / | / | Adult\-onset MELAS with aphasia/delirium, recurrent stroke\-like episodes, seizures, cortical blindness/dementia, hearing loss, elevated lactate; Died March 1997 | Original report: proband. |
| 574 | 3243 | m.3243A\>G | A3243G\-F265 | A3243G\-F265\-II1 | Fam | F | N | N | A | late 30s | / | / | / | / | Healthy | Original report: daughter 1; Healthy |
| 575 | 3243 | m.3243A\>G | A3243G\-F265 | A3243G\-F265\-II2 | Fam | F | N | N | A | late 30s | / | / | / | / | Healthy | Original report: daughter 2; Healthy |
| 576 | 3243 | m.3243A\>G | A3243G\-F266 | A3243G\-F266\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | MELAS syndrome with isolated respiratory\-chain complex I deficiency; Elevated lactate in CSF and blood; Ragged\-red fibers in skeletal muscle | Original paper subject: Patient 40\. |
| 577 | 3243 | m.3243A\>G | A3243G\-F267 | A3243G\-F267\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | MELAS syndrome with isolated respiratory\-chain complex I deficiency; Elevated CSF lactate and intermittently elevated blood lactate; Ragged\-red fibers in skeletal muscle | Original paper subject: Patient 41\. |
| 578 | 3243 | m.3243A\>G | A3243G\-F268 | A3243G\-F268\-P1 | Fam | F | Y | Y | ND | 59 | / | / | / | / | MIDD; Diabetes onset 49, deafness onset 18, blind spots/night vision, extensive RPE and choroid loss | Subject 1\-1; family proband. |
| 579 | 3243 | m.3243A\>G | A3243G\-F268 | A3243G\-F268\-P2 | Fam | M | N | Y | ND | 23 | / | / | / | / | Diabetes onset 18, deafness onset 23, RPE loss | Subject 1\-2; A3243G\-positive son; Son of 1\-1 |
| 580 | 3243 | m.3243A\>G | A3243G\-F268 | A3243G\-F268\-P3 | Fam | F | N | Y | ND | 86 | / | / | / | / | Diabetes onset 85, deafness onset 86, drusen | Subject 1\-3; A3243G\-positive mother; Mother of 1\-1 |
| 581 | 3243 | m.3243A\>G | A3243G\-F269 | A3243G\-F269\-P1 | Fam | F | Y | Y | ND | 42 | / | / | / | / | MIDD; Diabetes onset 36, deafness onset 20, RPE thinning and diabetic retinopathy | Subject 2\-1; family proband. |
| 582 | 3243 | m.3243A\>G | A3243G\-F270 | A3243G\-F270\-P1 | Fam | F | Y | Y | ND | 52 | / | / | / | / | MIDD; Diabetes onset 30, deafness onset 30, perimacular speckled pigmentation and RPE loss | Subject 3\-1; family proband. |
| 583 | 3243 | m.3243A\>G | A3243G\-F270 | A3243G\-F270\-P2 | Fam | F | N | Y | ND | 20 | / | / | / | / | Non\-diabetic, deafness onset 20, focal retinal pigment changes | Subject 3\-2; Affected\=Y because hearing loss/retinal phenotype is reported despite no diabetes; Daughter of 3\-1 |
| 584 | 3243 | m.3243A\>G | A3243G\-F270 | A3243G\-F270\-P3 | Fam | M | N | Y | ND | 60 | / | / | / | / | Diabetes onset 31, deafness onset 59, diabetic retinopathy | Subject 3\-3; A3243G\-positive brother; Brother of 3\-1 |
| 585 | 3243 | m.3243A\>G | A3243G\-F271 | A3243G\-F271\-P1 | Fam | M | Y | Y | ND | 44 | / | / | / | / | Impaired glucose tolerance, deafness onset 30, perimacular speckled pigmentation | Subject 4\-1; family proband. |
| 586 | 3243 | m.3243A\>G | A3243G\-F271 | A3243G\-F271\-P2 | Fam | F | N | Y | ND | 43 | / | / | / | / | Non\-diabetic, deafness onset 39, visual loss/night vision, macular pigment epithelial changes | Subject 4\-2; Affected\=Y because hearing/visual phenotype is reported despite no diabetes; Sister of 4\-1 |
| 587 | 3243 | m.3243A\>G | A3243G\-F271 | A3243G\-F271\-P3 | Fam | F | N | ND | ND | ND | / | / | / | / | ND | Non\-participating A3243G\-positive relative; phenotype not reported, so Affected\=ND; A3243G\-positive sister of 4\-2; did not participate in full examination |
| 588 | 3243 | m.3243A\>G | A3243G\-F271 | A3243G\-F271\-P4 | Fam | F | N | ND | ND | ND | / | / | / | / | ND | Non\-participating A3243G\-positive relative; phenotype not reported, so Affected\=ND; A3243G\-positive daughter of 4\-2; did not participate in full examination |
| 589 | 3243 | m.3243A\>G | A3243G\-F272 | A3243G\-F272\-P1 | Fam | F | Y | Y | ND | 71 | / | / | / | / | MIDD; Diabetes onset 66, deafness onset 66, retinal pigment changes | Subject 5\-1; family proband. |
| 590 | 3243 | m.3243A\>G | A3243G\-F272 | A3243G\-F272\-P2 | Fam | F | N | Y | ND | 41 | / | / | / | / | Normal glucose tolerance, audiometric hearing loss, normal fundus | Subject 5\-2; Affected\=Y because hearing loss is reported despite no diabetes; Daughter of 5\-1 |
| 591 | 3243 | m.3243A\>G | A3243G\-F273 | A3243G\-F273\-P1 | Fam | M | Y | Y | ND | 51 | / | / | / | / | MIDD; Diabetes onset 37, deafness onset 47, RPE loss inferotemporal to disc | Subject 6\-1; family proband. |
| 592 | 3243 | m.3243A\>G | A3243G\-F274 | A3243G\-F274\-P1 | Fam | F | Y | Y | ND | 50 | / | / | / | / | MIDD; Diabetes onset 45, deafness onset 50, mild photophobia and marked perimacular pigmentation | Subject 7\-1; family proband. |
| 593 | 3243 | m.3243A\>G | A3243G\-F275 | A3243G\-F275\-P1 | Uninf | M | Y | Y | A | 61 | 6% | 39% | / | / | Painful muscle stiffness; Myopathy; Hypacusis; Impaired glucose tolerance; Mild hemisensory syndrome; Hypertrophic left ventricle and heart block; Few ragged\-red fibers | A3243G detected heteroplasmically by PCR/ApaI in muscle and blood; relatives unavailable for DNA analysis. |
| 594 | 3243 | m.3243A\>G | A3243G\-F276 | A3243G\-F276\-III2 | Fam | F | Y | Y | A | 17 | 38% | 59% | / | / | FSGS/nephrotic syndrome; Bilateral sensorineural hearing loss; Steroid\-induced diabetes; Renal failure/peritoneal dialysis; Mitochondrial myopathy; Retinal pigment lesion | III\-2 is the proband; Fig. 4 reports muscle 59% and blood 38% heteroplasmy. |
| 595 | 3243 | m.3243A\>G | A3243G\-F276 | A3243G\-F276\-II3 | Fam | F | N | Y | ND | ND | 8% | / | / | / | Proteinuria; Diabetes; Mild bilateral sensorineural hearing loss | Mother of proband; Fig. 4 reports blood heteroplasmy 8%. |
| 596 | 3243 | m.3243A\>G | A3243G\-F276 | A3243G\-F276\-III3 | Fam | F | N | Y | ND | ND | 6% | / | / | / | Diabetes | Younger sister of proband; Fig. 4 reports blood heteroplasmy 6%. |
| 597 | 3243 | m.3243A\>G | A3243G\-F276 | A3243G\-F276\-III1 | Fam | M | N | Y | ND | ND | 13% | / | / | / | Seizure disorder | Maternal male cousin; Fig. 4 reports blood heteroplasmy 13%. |
| 598 | 3243 | m.3243A\>G | A3243G\-F277 | A3243G\-F277\-P1 | Uninf | F | Y | Y | ND | 33 | / | / | / | / | Mitochondrial diabetes; Diabetes duration 1 year; No nephropathy, hematuria, retinopathy, neurological disorder, or cardiomyopathy | Original paper subject Patient 1; exact leukocyte mutation load not reported. |
| 599 | 3243 | m.3243A\>G | A3243G\-F278 | A3243G\-F278\-P1 | Uninf | M | Y | Y | ND | 50 | / | / | / | / | Mitochondrial diabetes; Diabetes duration 11 years; Cardiomyopathy; No nephropathy or retinopathy reported | Original paper subject Patient 2; exact leukocyte mutation load not reported. |
| 600 | 3243 | m.3243A\>G | A3243G\-F279 | A3243G\-F279\-P1 | Uninf | M | Y | Y | ND | 44 | / | / | / | / | Mitochondrial diabetes; Diabetes duration 6 years; Microalbuminuria; Polyneuropathy | Original paper subject Patient 3; exact leukocyte mutation load not reported. |
| 601 | 3243 | m.3243A\>G | A3243G\-F280 | A3243G\-F280\-P1 | Uninf | M | Y | Y | ND | 69 | / | / | / | / | Mitochondrial diabetes; Diabetes duration 19 years; Microalbuminuria; Polyneuropathy; Cardiomyopathy | Original paper subject Patient 4; exact leukocyte mutation load not reported. |
| 602 | 3243 | m.3243A\>G | A3243G\-F281 | A3243G\-F281\-P1 | Uninf | F | Y | Y | ND | 58 | / | / | / | / | Mitochondrial diabetes; Diabetes duration 12 years; Overt proteinuria; No cardiomyopathy reported | Original paper subject Patient 5; exact leukocyte mutation load not reported. |
| 603 | 3243 | m.3243A\>G | A3243G\-F282 | A3243G\-F282\-P1 | Uninf | F | Y | Y | ND | 48 | / | / | / | / | Mitochondrial diabetes; Diabetes duration 8 years; Overt proteinuria; Trigeminal neuralgia/facial palsy; Cardiomyopathy | Original paper subject Patient 6; exact leukocyte mutation load not reported. |
| 604 | 3243 | m.3243A\>G | A3243G\-F283 | A3243G\-F283\-P1 | Uninf | M | Y | Y | ND | 23 | / | / | / | / | Mitochondrial diabetes; Diabetes duration 4 years; Nephrotic syndrome and renal failure; Hematuria; Neurosensory deafness and cataract in case report | Leukocyte and renal biopsy mtDNA suggested bp 3243 mutation; mother had diabetes and hearing loss but was not molecularly tested. |
| 605 | 3243 | m.3243A\>G | A3243G\-F284 | A3243G\-F284\-P1 | Uninf | F | Y | Y | ND | 54 | / | / | / | / | Mitochondrial diabetes; Diabetes duration 22 years; Hemodialysis; Proliferative retinopathy; Polyneuropathy | Original paper subject Patient 8; exact leukocyte mutation load not reported. |
| 606 | 3243 | m.3243A\>G | A3243G\-F285 | A3243G\-F285\-P1 | Uninf | F | Y | Y | ND | 48 | / | / | / | / | Mitochondrial diabetes; Diabetes duration 16 years; Hemodialysis; Polyneuropathy | Original paper subject Patient 9; exact leukocyte mutation load not reported. |
| 607 | 3243 | m.3243A\>G | A3243G\-F286 | A3243G\-F286\-P1 | Uninf | F | Y | Y | ND | 33 | / | / | / | / | MELAS; Diabetes duration 15 years; Microalbuminuria; Preproliferative retinopathy; Polyneuropathy, epilepsy, and cerebellar ataxia | Original paper subject Patient 10; exact leukocyte mutation load not reported. |
| 608 | 3243 | m.3243A\>G | A3243G\-F287 | A3243G\-F287\-P1 | Uninf | M | Y | Y | ND | 37 | / | / | / | / | MELAS; Diabetes duration 4 years; Overt proteinuria; Polyneuropathy, epilepsy, and anxiety neurosis | Original paper subject Patient 11; exact leukocyte mutation load not reported. |
| 609 | 3243 | m.3243A\>G | A3243G\-F288 | A3243G\-F288\-P1 | Uninf | F | Y | Y | A | 64 | 25% | / | / | / | Bilateral high\-frequency sensorineural hearing loss with tinnitus; No DM or other neurologic disorder | Original paper subject Patient 1; hearing loss first noted at age 61; four siblings and two children had no hearing impairment. |
| 610 | 3243 | m.3243A\>G | A3243G\-F289 | A3243G\-F289\-P1 | Uninf | M | Y | Y | A | 44 | 39% | / | / | / | Bilateral symmetric/transient sensorineural hearing loss; No affected relatives reported | Original paper subject Patient 2; bilateral transient hearing loss first noted at age 33; none of his relatives had hearing impairment. |
| 611 | 3243 | m.3243A\>G | A3243G\-F290 | A3243G\-F290\-P1 | Uninf | F | Y | Y | A | 6 | 28% | / | / | / | Bilateral moderate\-to\-severe sensorineural hearing loss with slight speech delay | Original paper subject Patient 3; mother had impaired hearing but no molecular test is reported. |
| 612 | 3243 | m.3243A\>G | A3243G\-F291 | A3243G\-F291\-P1 | Uninf | F | Y | Y | ND | 39 | 16% | 32% | / | / | Diabetes mellitus | Patient 1; Table 1 molecular defect A3243G and Table 3 A3243G mutation\-load row; no hearing loss in Table 1/2 |
| 613 | 3243 | m.3243A\>G | A3243G\-F292 | A3243G\-F292\-P7 | Uninf | F | Y | Y | ND | 62 | 6% | / | / | / | Migraine; Mild gradual hearing loss onset 59 | Patient 7; Table 1 molecular defect A3243G and Table 3 A3243G mutation\-load row. |
| 614 | 3243 | m.3243A\>G | A3243G\-F293 | A3243G\-F293\-P12 | Uninf | M | Y | Y | ND | 36 | 4% | 85% | / | / | MELAS; Sudden hearing loss onset 34; RRF/COX abnormalities | Patient 12; Table 1 molecular defect A3243G and Table 3 A3243G mutation\-load row. |
| 615 | 3243 | m.3243A\>G | A3243G\-F294 | A3243G\-F294\-P13 | Uninf | F | Y | Y | ND | 60 | 9% | 68% | / | / | Deafness; Gradual hearing loss onset 8 | Patient 13; Table 1 molecular defect A3243G and Table 3 A3243G mutation\-load row. |
| 616 | 3243 | m.3243A\>G | A3243G\-F295 | A3243G\-F295\-P15 | Uninf | F | Y | Y | ND | 48 | 6% | 47% | / | / | MELAS; Severe sudden hearing loss onset 43 | Patient 15; Table 1 molecular defect A3243G and Table 3 A3243G mutation\-load row. |
| 617 | 3243 | m.3243A\>G | A3243G\-F296 | A3243G\-F296\-P18 | Uninf | F | Y | Y | ND | 58 | 18% | 67% | / | / | Deafness; Severe sudden hearing loss onset 35 | Patient 18; Table 1 molecular defect A3243G and Table 3 A3243G mutation\-load row. |
| 618 | 3243 | m.3243A\>G | A3243G\-F297 | A3243G\-F297\-P19 | Uninf | F | Y | Y | ND | 41 | 29% | / | / | / | Deafness and diabetes; Gradual hearing loss onset 18 | Patient 19; Table 1 molecular defect A3243G and Table 3 A3243G mutation\-load row. |
| 619 | 3243 | m.3243A\>G | A3243G\-F298 | A3243G\-F298\-P20 | Uninf | M | Y | Y | ND | 44 | 22% | 87% | / | / | Deafness and diabetes; Gradual hearing loss onset 18 | Patient 20; Table 1 molecular defect A3243G and Table 3 A3243G mutation\-load row. |
| 620 | 3243 | m.3243A\>G | A3243G\-F299 | A3243G\-F299\-P21 | Uninf | F | Y | Y | ND | 31 | 40% | 72% | / | / | MELAS; Severe stepwise hearing loss onset 7 | Patient 21; Table 1 molecular defect A3243G and Table 3 A3243G mutation\-load row. |
| 621 | 3243 | m.3243A\>G | A3243G\-F300 | A3243G\-F300\-P22 | Uninf | F | Y | Y | ND | 39 | 26% | 86% | / | / | MELAS; Sudden hearing loss onset 24 | Patient 22; Table 1 molecular defect A3243G and Table 3 A3243G mutation\-load row. |
| 622 | 3243 | m.3243A\>G | A3243G\-F301 | A3243G\-F301\-P1 | Uninf | ND | Y | Y | A | ND | / | / | / | / | Bilateral hearing loss associated with diabetes | Group 1 outpatient; 3243A\>G detected by RFLP using ApaI and confirmed by direct sequencing. Exact heteroplasmy load is not reported. |
| 623 | 3243 | m.3243A\>G | A3243G\-F302 | A3243G\-F302\-I1 | Uninf | F | N | Y | D | ND | / | / | / | / | Affected | Figure\-only caption\-defined affected carrier; tissue and load not reported; Clinically affected A3243G carrier by Fig.1 symbol; individual clinical details not tabulated |
| 624 | 3243 | m.3243A\>G | A3243G\-F302 | A3243G\-F302\-II4 | Fam | M | N | Y | D | ND | / | / | / | / | Affected | Figure\-only caption\-defined affected carrier; tissue and load not reported; Clinically affected A3243G carrier by Fig.1 symbol; individual clinical details not tabulated |
| 625 | 3243 | m.3243A\>G | A3243G\-F302 | A3243G\-F302\-II2 | Fam | F | N | Y | A | 72 | 6% | / | 17% | 6%(ND) | Oligosymptomatic; Deafness, cardiomyopathy and short stature | Table\-positive A3243G carrier; urine epithelial load higher than blood. |
| 626 | 3243 | m.3243A\>G | A3243G\-F302 | A3243G\-F302\-III11 | Fam | F | N | Y | A | 47 | 12% | / | 36% | 17%(ND) | Oligosymptomatic; Migraine and ptosis | Table\-positive A3243G carrier. |
| 627 | 3243 | m.3243A\>G | A3243G\-F302 | A3243G\-F302\-III4 | Fam | F | N | Y | A | 34 | 30% | / | 47% | 32%(ND) | Oligosymptomatic; Migraine, deafness, cardiomyopathy, short stature, ptosis, limb weakness and stroke\-like features | Table\-positive A3243G carrier. |
| 628 | 3243 | m.3243A\>G | A3243G\-F302 | A3243G\-F302\-III2 | Fam | F | Y | Y | D | 31 | / | 87% | / | / | Typical MELAS; Developmental delay, deafness, muscle weakness, fatigue, ptosis, stroke\-like episode, optic atrophy, retinopathy and cardiomyopathy | Explicit proband; muscle A3243G load reported; died at age 31\. |
| 629 | 3243 | m.3243A\>G | A3243G\-F302 | A3243G\-F302\-III12 | Fam | F | N | N | A | 48 | 0 | 4% | 2% | 2\.5%(ND) | Healthy | Leukocytes were negative but muscle, urine and BM were positive; tissue\-specific negative blood result only; Clinically unaffected A3243G carrier |
| 630 | 3243 | m.3243A\>G | A3243G\-F302 | A3243G\-F302\-III10 | Fam | F | N | N | A | 39 | 2% | / | / | / | Healthy | Table\-positive A3243G carrier in leukocytes; Clinically unaffected A3243G carrier |
| 631 | 3243 | m.3243A\>G | A3243G\-F302 | A3243G\-F302\-III5 | Fam | F | N | N | A | 36 | 14% | / | / | / | Healthy | Table\-positive A3243G carrier in leukocytes; Clinically unaffected A3243G carrier |
| 632 | 3243 | m.3243A\>G | A3243G\-F302 | A3243G\-F302\-III3 | Fam | F | N | N | A | 32 | 7% | / | / | / | Healthy | Table\-positive A3243G carrier in leukocytes; Clinically unaffected A3243G carrier; migraine reported |
| 633 | 3243 | m.3243A\>G | A3243G\-F302 | A3243G\-F302\-III9 | Fam | ND | N | Y | A | 43 | 0 | / | / | / | Phenotypically normal maternal\-line relative; Migraine reported | Eligible negative\-tested maternal\-line descendant; leukocyte A3243G was not detected and this person is a branch stop. |
| 634 | 3243 | m.3243A\>G | A3243G\-F302 | A3243G\-F302\-III7 | Fam | ND | N | N | A | 39 | 0 | / | / | / | Phenotypically normal maternal\-line relative | Eligible negative\-tested maternal\-line descendant; leukocyte A3243G was not detected and this person is a branch stop. |
| 635 | 3243 | m.3243A\>G | A3243G\-F302 | A3243G\-F302\-III1 | Fam | ND | N | Y | A | 29 | 0 | / | / | / | Phenotypically normal maternal\-line relative; Migraine reported | Eligible negative\-tested maternal\-line descendant; leukocyte A3243G was not detected and this person is a branch stop. |
| 636 | 3243 | m.3243A\>G | A3243G\-F302 | A3243G\-F302\-III16 | Fam | ND | N | Y | A | 28 | 0 | / | 0 | 0%(BM) | Phenotypically normal maternal\-line relative; Migraine reported | Eligible negative\-tested maternal\-line descendant; leukocyte, BM and urine A3243G were not detected and this person is a branch stop. |
| 637 | 3243 | m.3243A\>G | A3243G\-F302 | A3243G\-F302\-IV12 | Fam | ND | N | Y | A | 28 | 0 | / | 0 | 0%(BM) | Phenotypically normal maternal\-line descendant; Migraine reported | Eligible negative\-tested maternal\-line descendant; leukocyte, BM and urine A3243G were not detected and this person is a branch stop. |
| 638 | 3243 | m.3243A\>G | A3243G\-F302 | A3243G\-F302\-IV11 | Fam | ND | N | Y | A | 24 | 0 | / | 0 | 0%(BM) | Phenotypically normal maternal\-line descendant; Migraine reported | Eligible negative\-tested maternal\-line descendant; leukocyte, BM and urine A3243G were not detected and this person is a branch stop. |
| 639 | 3243 | m.3243A\>G | A3243G\-F303 | A3243G\-F303\-P1 | Uninf | M | Y | Y | ND | 10 | 64% | 83% | / | / | Childhood encephalopathy/myopathy cohort patient; Mental and motor retardation; Short stature; Progressive deterioration; Migraine attacks; Ragged\-red fibers; Cerebellar atrophy | Age is age at onset from Table 5; exact evaluation age not reported. A3243G heteroplasmy was 83% in muscle and 64% in blood. |
| 640 | 3243 | m.3243A\>G | A3243G\-F304 | A3243G\-F304\-I1 | Uninf | M | Y | Y | A | 36 | / | 85% | / | / | Recurrent strokes, intractable migraine, diabetes mellitus, elevated lactate/CK, complex I deficiency, and mitochondrial dysfunction in vivo | Original label: Patient 1; index patient. |
| 641 | 3243 | m.3243A\>G | A3243G\-F304 | A3243G\-F304\-I2 | Uninf | M | N | Y | A | 33 | / | 4%; 6%; 5\.95%; 0\.7\-16\.1% | / | / | Mild exercise intolerance with abnormal in vivo mitochondrial ATP production despite normal muscle histochemistry and respiratory chain activities | Original label: Patient 2\. |
| 642 | 3243 | m.3243A\>G | A3243G\-F305 | A3243G\-F305\-P1 | Fam | F | Y | Y | A | 21 referral; renal disease from 18 | 59% | / | / | / | FSGS/proteinuria, deafness, diabetes, renal failure/transplant | Family A; renal biopsy marked in pedigree. |
| 643 | 3243 | m.3243A\>G | A3243G\-F305 | A3243G\-F305\-P3 | Fam | F | N | Y | A | ND | 57% | / | / | / | Deafness and diabetes | Family A sister of Case 1/Case 2\. |
| 644 | 3243 | m.3243A\>G | A3243G\-F305 | A3243G\-F305\-P2 | Fam | M | Y | Y | A | 40 referral; proteinuria from 18 | 49% | / | / | 55%(Kidney) | FSGS/proteinuria and diabetes | Family A; renal biopsy marked in pedigree. |
| 645 | 3243 | m.3243A\>G | A3243G\-F305 | A3243G\-F305\-P4 | Fam | F | N | N | A | ND | 42% | / | / | / | Healthy | Family A daughter of Case 1; A3243G\-positive open\-symbol descendant; no target symptoms shown |
| 646 | 3243 | m.3243A\>G | A3243G\-F305 | A3243G\-F305\-P5 | Fam | F | N | N | A | ND | 58% | / | / | / | Healthy | Family A child of 57% sister; A3243G\-positive open\-symbol descendant; no target symptoms shown |
| 647 | 3243 | m.3243A\>G | A3243G\-F305 | A3243G\-F305\-P6 | Fam | M | N | N | A | ND | 59% | / | / | / | Healthy | Family A child of 57% sister; A3243G\-positive open\-symbol descendant; no target symptoms shown |
| 648 | 3243 | m.3243A\>G | A3243G\-F306 | A3243G\-F306\-P3 | Fam | F | Y | Y | A | 32 referral | 56% | / | / | 66%(Kidney) | FSGS/proteinuria, insulin\-dependent diabetes, deafness | Family B; renal biopsy marked in pedigree. |
| 649 | 3243 | m.3243A\>G | A3243G\-F306 | A3243G\-F306\-P1 | Fam | F | N | Y | A | ND | 66% | / | / | / | Diabetes | Family B sister of Case 3; A3243G\-positive sister |
| 650 | 3243 | m.3243A\>G | A3243G\-F307 | A3243G\-F307\-P4 | Uninf | F | Y | Y | A | 34 referral | / | / | / | / | FSGS/proteinuria, diabetes, cerebellar syndrome, hearing loss | Family history unavailable; tissue/load not reported in extracted text. |
| 651 | 3243 | m.3243A\>G | A3243G\-F308 | A3243G\-F308\-P1 | Uninf | ND | ND | Y | ND | 15 | 58%; 45% | / | / | / | MELAS patient in longitudinal blood\-load study | Subject 1; Table 1 solid\-phase minisequencing blood mutant load. |
| 652 | 3243 | m.3243A\>G | A3243G\-F309 | A3243G\-F309\-P2 | Uninf | ND | ND | Y | ND | 15 | 70%; 41% | / | / | / | MELAS patient in longitudinal blood\-load study | Subject 2; Table 1 solid\-phase minisequencing blood mutant load. |
| 653 | 3243 | m.3243A\>G | A3243G\-F310 | A3243G\-F310\-P3 | Uninf | ND | ND | Y | ND | 11 | 79%; 61% | / | / | / | MELAS patient in longitudinal blood\-load study | Subject 3; Table 1 solid\-phase minisequencing blood mutant load. |
| 654 | 3243 | m.3243A\>G | A3243G\-F311 | A3243G\-F311\-P4 | Uninf | ND | ND | Y | ND | 9 | 76%; 64% | / | / | / | MELAS patient in longitudinal blood\-load study | Subject 4; Table 1 solid\-phase minisequencing blood mutant load. |
| 655 | 3243 | m.3243A\>G | A3243G\-F312 | A3243G\-F312\-P5 | Uninf | ND | ND | Y | ND | 19 | 20%; 8% | / | / | / | MELAS patient in longitudinal blood\-load study | Subject 5; Table 1 solid\-phase minisequencing blood mutant load. |
| 656 | 3243 | m.3243A\>G | A3243G\-F313 | A3243G\-F313\-P6 | Uninf | ND | ND | Y | ND | 35 | 36%; 20% | / | / | / | MELAS patient in longitudinal blood\-load study | Subject 6; age 35 sample also showed monocytes 24%, lymphocytes 20%, total blood leukocytes 20%. |
| 657 | 3243 | m.3243A\>G | A3243G\-F314 | A3243G\-F314\-II1 | Fam | M | Y | Y | D | 4\.5 | / | / | / | / | Severe growth retardation/failure to thrive, delayed motor milestones, muscle weakness, dilated cardiomyopathy with congestive heart failure, lactic acidosis, 3\-methylglutaconic aciduria, low cholesterol, ragged\-red fibers, complex I/IV deficiency; Died at 4\.5 years | Patient 1/propositus; A3243G confirmed by restriction analysis and sequencing. |
| 658 | 3243 | m.3243A\>G | A3243G\-F314 | A3243G\-F314\-I1 | Uninf | F | N | Y | A | 37 | / | / | / | / | NIDDM, recurrent pulmonary infections, marked muscle weakness, very thin habitus | Mother; A3243G present in peripheral blood mtDNA. |
| 659 | 3243 | m.3243A\>G | A3243G\-F314 | A3243G\-F314\-II2 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | No individually mapped molecular testing in this child; included because mother is target\-positive and child phenotype is explicitly reported. The paper reports 4/5 siblings blood\-positive but does not identify which sibling; Healthy |
| 660 | 3243 | m.3243A\>G | A3243G\-F314 | A3243G\-F314\-II3 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | No individually mapped molecular testing in this child; included because mother is target\-positive and child phenotype is explicitly reported. The paper reports 4/5 siblings blood\-positive but does not identify which sibling; Healthy |
| 661 | 3243 | m.3243A\>G | A3243G\-F314 | A3243G\-F314\-II4 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | No individually mapped molecular testing in this child; included because mother is target\-positive and child phenotype is explicitly reported. The paper reports 4/5 siblings blood\-positive but does not identify which sibling; Healthy |
| 662 | 3243 | m.3243A\>G | A3243G\-F314 | A3243G\-F314\-II5 | Fam | M | N | N | A | ND | / | / | / | / | Healthy | No individually mapped molecular testing in this child; included because mother is target\-positive and child phenotype is explicitly reported. The paper reports 4/5 siblings blood\-positive but does not identify which sibling; Healthy |
| 663 | 3243 | m.3243A\>G | A3243G\-F314 | A3243G\-F314\-II6 | Fam | M | N | N | A | ND | / | / | / | / | Healthy | No individually mapped molecular testing in this child; included because mother is target\-positive and child phenotype is explicitly reported. The paper reports 4/5 siblings blood\-positive but does not identify which sibling; Healthy |
| 664 | 3243 | m.3243A\>G | A3243G\-F315 | A3243G\-F315\-P2 | Fam | F | N | N | A | ND | 0 | / | 5% | / | Healthy | Family 1 mother; Fig.2 reports B:0% and U:5%; A3243G\-positive mother of Patient 1; no disease symbol reported |
| 665 | 3243 | m.3243A\>G | A3243G\-F315 | A3243G\-F315\-P1 | Fam | F | Y | Y | A | 22 | 28% | / | 64% | / | Proteinuria onset at age 10; FSGS; Stable renal function | Patient 1; Fig.2 reports B:28% and U:64%; Table 1 biopsy age 22\. |
| 666 | 3243 | m.3243A\>G | A3243G\-F315 | A3243G\-F315\-P3 | Fam | M | N | ND | A | ND | 29% | / | 65% | / | ND | Family 1 male sibling; Fig.2 reports B:29% and U:65%; Older brother of Patient 1; diabetes mellitus symbol in pedigree |
| 667 | 3243 | m.3243A\>G | A3243G\-F315 | A3243G\-F315\-P4 | Fam | M | N | Y | A | ND | 53% | / | 65% | / | No FSGS symptoms reported | Fig.2 reports B:53% and U:65%; discussion notes high urine percentage despite no FSGS symptoms; Son of Patient 1 |
| 668 | 3243 | m.3243A\>G | A3243G\-F316 | A3243G\-F316\-P1 | Fam | F | N | Y | A | ND | 20% | / | 58% | / | Diabetes mellitus | Family 2 mother; Fig.2 reports B:20% and U:58%; Mother of Patients 2 and 3 |
| 669 | 3243 | m.3243A\>G | A3243G\-F316 | A3243G\-F316\-P2 | Fam | F | Y | Y | A | 32 | 19% | / | 60% | / | Proteinuria onset at age 17; FSGS; Stable renal function | Patient 2; Fig.2 reports B:19% and U:60%; Table 1 biopsy age 32; overt diabetes during first pregnancy |
| 670 | 3243 | m.3243A\>G | A3243G\-F316 | A3243G\-F316\-P3 | Fam | F | Y | Y | A | 18/27 | 17% | / | 69% | / | Proteinuria onset at age 14; FSGS on two biopsies; Impaired glucose tolerance; Renal function declined during follow\-up | Patient 3; Fig.2 reports B:17% and U:69%; Table 1 has two biopsy ages. |
| 671 | 3243 | m.3243A\>G | A3243G\-F316 | A3243G\-F316\-P4 | Fam | F | N | N | A | ND | 0 | / | 0 | / | Healthy | Eligible negative\-tested maternal\-line descendant; Fig.2 reports B:0% and U:0%; this negative\-tested person is a branch stop; Daughter of Patient 2; no disease symbol in pedigree |
| 672 | 3243 | m.3243A\>G | A3243G\-F316 | A3243G\-F316\-P5 | Fam | F | N | N | A | ND | 38% | / | 49% | / | Healthy | Fig.2 reports B:38% and U:49%; Daughter of Patient 3; A3243G\-positive descendant with no disease symbol in pedigree |
| 673 | 3243 | m.3243A\>G | A3243G\-F317 | A3243G\-F317\-P4 | Fam | F | Y | Y | A | 25 | 18% | / | 38% | / | Proteinuria onset at age 15; FSGS; Impaired glucose tolerance/diabetes; Hearing disturbance; Progressed to dialysis | Patient 4; Fig.2 reports B:18% and U:38%; Table 1 biopsy age 25\. |
| 674 | 3243 | m.3243A\>G | A3243G\-F318 | A3243G\-F318\-P1 | Fam | F | Y | Y | A | 80 | / | / | / | / | Long history of insulin\-dependent diabetes; Severe sensorineural hearing loss; Short stature; Severe cardiac dysfunction/cardiomyopathy; Metabolic acidosis; Renal dysfunction; No stroke\-like episodes | A3243G detected in muscle and peripheral blood leukocytes by PCR/ApaI; exact heteroplasmy percentage not reported. |
| 675 | 3243 | m.3243A\>G | A3243G\-F318 | A3243G\-F318\-P2 | Fam | F | N | Y | A | ND | / | / | / | / | Short stature and insulin\-dependent diabetes mellitus | No molecular testing in child; included because mother has confirmed mutation load and child phenotype is explicitly reported. |
| 676 | 3243 | m.3243A\>G | A3243G\-F318 | A3243G\-F318\-P3 | Fam | F | N | Y | A | ND | / | / | / | / | Short stature and insulin\-dependent diabetes mellitus | No molecular testing in child; included because mother has confirmed mutation load and child phenotype is explicitly reported. |
| 677 | 3243 | m.3243A\>G | A3243G\-F318 | A3243G\-F318\-P4 | Fam | F | N | Y | A | ND | / | / | / | / | Short stature and insulin\-dependent diabetes mellitus | No molecular testing in child; included because mother has confirmed mutation load and child phenotype is explicitly reported. |
| 678 | 3243 | m.3243A\>G | A3243G\-F319 | A3243G\-F319\-P1 | Fam | F | Y | Y | A | 32 | / | / | / | / | MELAS\-spectrum disease with profound progressive sensorineural hearing loss requiring cochlear implantation; Insulin\-dependent diabetes; Congenital cataracts; Short stature; Leg weakness; Fatigue; Tinnitus; No reported encephalopathy or strokes | Confirmed A\-to\-G mutation at mtDNA nucleotide 3243; tested tissue and mutant load were not reported. Age is cochlear implantation age; referred for assessment at 31\. |
| 679 | 3243 | m.3243A\>G | A3243G\-F320 | A3243G\-F320\-P1 | Fam | M | Y | Y | A | 36 | 17% | / | / | / | Psychosis, seizures, sensorineural hearing loss, wide\-based gait, diffuse muscle weakness, loss of reflexes, mild intention tremor, MELAS/mtDNA disease | Arrowed proband; leukocyte A3243G 17%; complex I defect and abnormal exercise/lactate testing. |
| 680 | 3243 | m.3243A\>G | A3243G\-F320 | A3243G\-F320\-P2 | Fam | M | N | Y | A | ND | / | / | / | / | Diabetes mellitus, hearing loss, seizures | Shaded male sibling in pedigree; no exact A3243G tissue or load reported; confirmed mitochondrial DNA disease by history of genetic testing in pedigree caption |
| 681 | 3243 | m.3243A\>G | A3243G\-F320 | A3243G\-F320\-P3 | Fam | F | N | Y | A | ND | / | / | / | / | Diabetes mellitus, hearing loss, seizures | Shaded female sibling in pedigree; no exact A3243G tissue or load reported; confirmed mitochondrial DNA disease by history of genetic testing in pedigree caption |
| 682 | 3243 | m.3243A\>G | A3243G\-F321 | A3243G\-F321\-II1 | Fam | M | Y | Y | A | 51 | 2% | 29% | / | / | Diabetes, limb weakness, external ophthalmoplegia, RRF | 1a; son of 1b; Table 1 A3243G\-positive load in blood and muscle. |
| 683 | 3243 | m.3243A\>G | A3243G\-F321 | A3243G\-F321\-I1 | Uninf | F | N | Y | A | 73 | 2% | / | / | / | Hearing loss, diabetes, limb weakness, ptosis only | 1b; mother of 1a; Table 1 A3243G\-positive load in blood. |
| 684 | 3243 | m.3243A\>G | A3243G\-F322 | A3243G\-F322\-I1 | Uninf | F | Y | Y | A | 45 | 8% | 56% | / | / | Diabetes | 2a; mother of 2b; Table 1 A3243G\-positive load in blood and muscle. |
| 685 | 3243 | m.3243A\>G | A3243G\-F322 | A3243G\-F322\-II1 | Fam | M | N | Y | A | 16 | 53% | / | / | / | Hearing loss, stroke\-like episodes, dementia, seizures | 2b; son of 2a; Table 1 A3243G\-positive load in blood. |
| 686 | 3243 | m.3243A\>G | A3243G\-F323 | A3243G\-F323\-P1 | Uninf | M | Y | Y | A | 61 | 6% | 39% | / | / | Hearing loss, limb weakness, painful muscle stiffness | Patient 3; singleton A3243G\-positive patient with blood and muscle loads. |
| 687 | 3243 | m.3243A\>G | A3243G\-F324 | A3243G\-F324\-P1 | Uninf | M | Y | Y | A | 44 | 19% | 6% | / | / | Cardiomyopathy and ataxia | Patient 4; singleton A3243G\-positive patient with blood and muscle loads. |
| 688 | 3243 | m.3243A\>G | A3243G\-F325 | A3243G\-F325\-II1 | Fam | F | Y | Y | A | 28 | 37% | / | / | / | Hearing loss, stroke\-like episodes, dementia, seizures, RRF | 5a; daughter of 5b; Table 1 A3243G\-positive load in blood. |
| 689 | 3243 | m.3243A\>G | A3243G\-F325 | A3243G\-F325\-I1 | Uninf | F | N | Y | A | 61 | 3% | / | / | / | Hearing loss, impaired glucose tolerance | 5b; mother of 5a; Table 1 A3243G\-positive load in blood. |
| 690 | 3243 | m.3243A\>G | A3243G\-F326 | A3243G\-F326\-P1 | Uninf | M | Y | Y | A | 44 | 9% | 32% | / | / | Stroke\-like episodes, retinopathy, RRF | Patient 6; singleton A3243G\-positive patient with blood and muscle loads. |
| 691 | 3243 | m.3243A\>G | A3243G\-F327 | A3243G\-F327\-II1 | Fam | F | Y | Y | A | 18 | / | 84% | / | / | Stroke\-like episodes, dementia, seizures, myoclonia | 7a; daughter of 7b; Table 1 A3243G\-positive load in muscle. |
| 692 | 3243 | m.3243A\>G | A3243G\-F327 | A3243G\-F327\-I1 | Uninf | F | N | Y | A | 48 | 3% | / | / | / | Hearing loss, migrainelike headache | 7b; mother of 7a; Table 1 A3243G\-positive load in blood. |
| 693 | 3243 | m.3243A\>G | A3243G\-F328 | A3243G\-F328\-P1 | Uninf | M | Y | Y | A | 42 | 14% | 84% | / | / | Hearing loss, stroke\-like episodes, short stature, RRF | Patient 8; singleton A3243G\-positive patient with blood and muscle loads. |
| 694 | 3243 | m.3243A\>G | A3243G\-F329 | A3243G\-F329\-I1 | Uninf | F | Y | Y | A | 37 | / | / | / | / | Hearing loss, diabetes, migrainelike headache | 9a; sibling of 9b and 9c; A3243G\-positive in 16\-patient series, exact load not available. |
| 695 | 3243 | m.3243A\>G | A3243G\-F329 | A3243G\-F329\-I2 | Uninf | M | N | Y | A | 42 | / | / | / | / | Hearing loss, diabetes, cardiomyopathy | 9b; sibling of 9a and 9c; A3243G\-positive in 16\-patient series, exact load not available. |
| 696 | 3243 | m.3243A\>G | A3243G\-F329 | A3243G\-F329\-I3 | Uninf | M | N | Y | A | 40 | / | / | / | / | Hearing loss, stroke\-like episodes, dementia, seizures, diabetes, cardiomyopathy, ataxia, RRF | 9c; sibling of 9a and 9b; A3243G\-positive in 16\-patient series, exact load not available. |
| 697 | 3243 | m.3243A\>G | A3243G\-F330 | A3243G\-F330\-P1 | Uninf | M | Y | Y | A | 45 | / | 73% | / | / | Hearing loss, RRF | Patient 10; singleton A3243G\-positive patient with muscle load. |
| 698 | 3243 | m.3243A\>G | A3243G\-F331 | A3243G\-F331\-P1 | Uninf | F | Y | Y | ND | 17 | / | 87% | / | / | MELAS; Periodic vomiting, hemiconvulsion, short stature, basal ganglia calcification, lactic acidosis, RRF | Patient 1; A3243G muscle mutant load reported in original L\-arginine MELAS study. |
| 699 | 3243 | m.3243A\>G | A3243G\-F332 | A3243G\-F332\-P2 | Uninf | F | Y | Y | ND | 18 | / | 74% | / | / | MELAS; Generalized muscle weakness, periodic vomiting, hemiparesis, short stature, basal ganglia calcification, lactic acidosis, RRF | Patient 2; A3243G muscle mutant load reported in original L\-arginine MELAS study. |
| 700 | 3243 | m.3243A\>G | A3243G\-F333 | A3243G\-F333\-P3 | Uninf | M | Y | Y | ND | 15 | / | 58% | / | / | MELAS; Hemiblindness, hemiconvulsions, vomiting, short stature, basal ganglia calcification, lactic acidosis, RRF | Patient 3; A3243G muscle mutant load reported in original L\-arginine MELAS study. |
| 701 | 3243 | m.3243A\>G | A3243G\-F334 | A3243G\-F334\-P1 | Fam | F | Y | Y | A | 42 | / | / | / | / | MIDD with 15\-year IDDM, gradually progressive bilateral sensorineural hearing loss, profound hearing loss requiring cochlear implantation | Patient DH; one of three siblings carrying the 3243 mtDNA point mutation in MTTL1; tissue/load not reported. |
| 702 | 3243 | m.3243A\>G | A3243G\-F334 | A3243G\-F334\-P2 | Fam | M | N | Y | A | ND | / | / | / | / | IDDM from age 20; Deafness from age 27; MIDD phenotype | One of three siblings carrying the 3243 mtDNA point mutation in MTTL1; tissue/load not reported. |
| 703 | 3243 | m.3243A\>G | A3243G\-F334 | A3243G\-F334\-P3 | Fam | M | N | Y | A | 35 | / | / | / | / | Stroke\-like episode at age 35; Deaf and insulin\-dependent diabetic from age 33; Complete MELAS presentation | One of three siblings carrying the 3243 mtDNA point mutation in MTTL1; tissue/load not reported. |
| 704 | 3243 | m.3243A\>G | A3243G\-F335 | A3243G\-F335\-P1 | Fam | M | Y | Y | ND | ND | 80% | / | / | 88%(ND) | Familial FGS with sensory hearing loss | One of two familial FGS patients with 3243A\>G; first quantitative values reported in order. |
| 705 | 3243 | m.3243A\>G | A3243G\-F335 | A3243G\-F335\-P2 | Fam | F | N | Y | ND | ND | / | / | / | / | Hearing loss | Mother of male familial FGS patient; same point mutation demonstrated in peripheral lymphocyte DNA; exact load not reported. |
| 706 | 3243 | m.3243A\>G | A3243G\-F336 | A3243G\-F336\-P1 | Fam | F | Y | Y | ND | ND | 56% | / | / | 85%(ND) | Familial FGS with sensory hearing loss | Second familial FGS patient with 3243A\>G; mother and younger sister lack reported molecular testing and are not carrier rows; family history of maternal ESRD and hearing loss |
| 707 | 3243 | m.3243A\>G | A3243G\-F337 | A3243G\-F337\-P1 | Fam | M | ND | Y | A | 48 | 22% | / | / | / | Type 2 diabetes diagnosed at age 42; Lean/short stature; Sensorineural hearing disturbance at 6000/8000 Hz; No microvascular complications after 6 years | KM, elder brother; peripheral blood leukocyte heteroplasmy 22% by last\-cycle hot PCR. |
| 708 | 3243 | m.3243A\>G | A3243G\-F337 | A3243G\-F337\-P2 | Fam | M | ND | Y | A | 43 | 39% | / | / | / | Diabetes diagnosed at age 25; Insulin treatment; Lean/short stature; Background diabetic retinopathy, marginally increased urine albumin excretion, peripheral polyneuropathy, sensorineural hearing disturbance | SM, younger brother; peripheral blood leukocyte heteroplasmy 39% by last\-cycle hot PCR. |
| 709 | 3243 | m.3243A\>G | A3243G\-F338 | A3243G\-F338\-P1 | Uninf | ND | Y | Y | D | 4 | / | 92% | / | / | Leigh syndrome | Original paper subject: Patient 1; onset 1 year; died at 9 years. |
| 710 | 3243 | m.3243A\>G | A3243G\-F339 | A3243G\-F339\-P1 | Uninf | ND | Y | Y | A | 13 | / | 87% | / | / | MELAS | Original paper subject: Patient 2; onset 3 years. |
| 711 | 3243 | m.3243A\>G | A3243G\-F340 | A3243G\-F340\-P1 | Uninf | ND | Y | Y | A | 26 | / | 74% | / | / | MELAS | Original paper subject: Patient 3; onset 23 years. |
| 712 | 3243 | m.3243A\>G | A3243G\-F341 | A3243G\-F341\-P1 | Uninf | ND | Y | Y | A | 42 | / | 33% | / | / | PEO | Original paper subject: Patient 4; onset 32 years. |
| 713 | 3243 | m.3243A\>G | A3243G\-F342 | A3243G\-F342\-P1 | Uninf | F | ND | Y | ND | 50 | / | / | 5% | / | Polycystic kidney disease\-like presentation; Chronic renal failure; Deafness; Diabetes; Hypertrophic cardiomyopathy; Nephrotic syndrome | Case 1; A3243G found in blood lymphocytes; urine heteroplasmy 5%; no relevant family history. |
| 714 | 3243 | m.3243A\>G | A3243G\-F343 | A3243G\-F343\-P2 | Fam | F | ND | Y | ND | 41 | / | / | / | / | End\-stage renal failure; Mild proteinuria; Deafness; Transient ischemic attack; Post\-transplant diabetes; Macular dystrophy | Case 2; sister had deafness but no molecular A3243G testing reported. |
| 715 | 3243 | m.3243A\>G | A3243G\-F344 | A3243G\-F344\-P3 | Fam | M | ND | Y | ND | 32 | / | / | 5% | / | Heavy proteinuria; Muscle fatigability; Severe deafness; Diabetes; Hypertrophic cardiomyopathy | Case 3; urine heteroplasmy 5% in renal\-transplant recipient group; sibling of Case 4 |
| 716 | 3243 | m.3243A\>G | A3243G\-F344 | A3243G\-F344\-P4 | Fam | F | ND | Y | ND | 42 | / | / | 5% | / | End\-stage renal failure; Bilateral deafness; Post\-transplant diabetes; Transient ischemic stroke; Basal ganglia calcifications | Case 4; urine heteroplasmy 5% in renal\-transplant recipient group; sibling of Case 3 |
| 717 | 3243 | m.3243A\>G | A3243G\-F345 | A3243G\-F345\-P5 | Fam | M | Y | Y | ND | 33 | / | / | / | / | Persistent proteinuria; Mild renal failure; Deafness; Diabetes; Affected mother, maternal uncle and sister | Case 5; text refers to this subject as the proband. |
| 718 | 3243 | m.3243A\>G | A3243G\-F345 | A3243G\-F345\-P6 | Fam | F | N | Y | ND | 35 | / | / | / | / | Preeclampsia at 23 weeks; Deafness; Proteinuria | Case 6; sister of Case 5\. Prior pregnancies are not separate carrier rows because individual identity and molecular testing are absent; recurrent miscarriage or fetal death before 25 weeks; pregnancy diabetes |
| 719 | 3243 | m.3243A\>G | A3243G\-F346 | A3243G\-F346\-P7 | Uninf | F | ND | Y | ND | 14 | / | / | / | / | Chronic renal failure; Heavy proteinuria; Deafness; FSGS; Diabetes ketoacidosis; Macular dystrophy; Cardiomyopathy; Seizures and stroke\-like findings | Case 7; sporadic case. |
| 720 | 3243 | m.3243A\>G | A3243G\-F347 | A3243G\-F347\-P8 | Fam | M | Y | Y | ND | 24 | / | / | / | / | Bilateral deafness; Wernicke aphasia and seizures; Diabetes; Macular dystrophy; Proteinuria; Chronic renal failure; Cardiomyopathy | Case 8; text refers to this subject as the proband; sister is Case 9\. |
| 721 | 3243 | m.3243A\>G | A3243G\-F347 | A3243G\-F347\-P9 | Fam | F | N | Y | ND | 47 | / | 60% | / | / | Bilateral deafness; Daughter died age 9 with neurologic manifestations; Diabetes; Hypertension; Transient ischemic stroke; Cardiomyopathy; Chronic renal failure | Case 9; A3243G demonstrated on muscle biopsy with 60% heteroplasmy. |
| 722 | 3243 | m.3243A\>G | A3243G\-F347 | A3243G\-F347\-P1 | Fam | F | N | Y | D | 9 | / | / | / | / | Died age 9 with unexplained neurologic manifestations | No molecular testing in child; included because mother has confirmed mutation load and child phenotype is explicitly reported; child of target\-positive mother Case 9 |
| 723 | 3243 | m.3243A\>G | A3243G\-F348 | A3243G\-F348\-P1 | Uninf | F | Y | Y | A | 38 | / | / | / | / | MELAS with speech disturbance, visual hallucination, vomiting, headache, generalized seizures, lactic acidosis, ragged\-red fibers, stroke\-like MRI lesions, and rhabdomyolysis at age 43 | Gene study revealed mitochondrial DNA 3243 A to G point mutation; exact tested tissue and mutant load were not reported. Rhabdomyolysis episode occurred at age 43\. |
| 724 | 3243 | m.3243A\>G | A3243G\-F349 | A3243G\-F349\-P1 | De novo | M | Y | Y | A | 32 | / | / | / | / | MELAS with diabetes mellitus, focal seizures/twitches, recurrent stroke\-like episodes/cerebral infarcts, lactic acidosis, elevated CK, ragged\-red fibers, basal ganglia calcification, hemianopsia, sensory deficits, and transient weakness | Whole mtDNA sequencing/RFLP of muscle showed heteroplasmic A3243G and homoplasmic A14693G. Mother's blood had A14693G but no detectable A3243G; the paper states A3243G appears sporadic. |
| 725 | 3243 | m.3243A\>G | A3243G\-F350 | A3243G\-F350\-II1 | Fam | M | Y | Y | A | 6 | 0% | / | 0% | 0%(ND); 0%(ND); 0%(ND) | PDD/autistic spectrum disorder; Hyperactivity, inattentiveness, poor eye contact, perseveration and hand stereotypies | Patient 1\. |
| 726 | 3243 | m.3243A\>G | A3243G\-F350 | A3243G\-F350\-I1 | Uninf | F | N | ND | ND | ND | 0% | / | 5% | 0%(ND); 7%(ND); 6%(ND) | Clinical phenotype not detailed | Mother 1\. |
| 727 | 3243 | m.3243A\>G | A3243G\-F351 | A3243G\-F351\-II1 | Fam | M | Y | Y | A | 13 | 0% | / | 0% | 0%(ND); 0%(ND); 0%(ND) | Asperger/autistic spectrum disorder; Fine\-motor and language delay; Clumsiness/fatigue; Mild right ptosis and mild ataxia | Patient 2\. |
| 728 | 3243 | m.3243A\>G | A3243G\-F351 | A3243G\-F351\-I1 | Uninf | F | N | ND | ND | ND | 4% | / | 37% | 11%(ND); 14%(ND) | Clinical phenotype not detailed | Mother 2\. |
| 729 | 3243 | m.3243A\>G | A3243G\-F352 | A3243G\-F352\-II1 | Fam | M | Y | Y | A | 5 | 4% | 5% | 10% | 3\-12%(ND); 14%(ND) | Infantile encephalopathy; Global developmental impairment; Lactic acidosis; Caudate/pallidum MRI abnormalities; Autism spectrum disorder | Patient 3; one of two brothers. |
| 730 | 3243 | m.3243A\>G | A3243G\-F352 | A3243G\-F352\-II2 | Fam | M | Y | Y | A | 2 | 0% | / | 0% | 27%(ND); 0%(ND); 0%(ND) | Autism spectrum disorder; Delayed language; Repetitive behavior; Normal neurologic and audiologic evaluation | Patient 4; younger brother of Patient 3\. |
| 731 | 3243 | m.3243A\>G | A3243G\-F352 | A3243G\-F352\-I1 | Uninf | F | N | ND | ND | ND | 0% | / | 0% | 3%(ND); 0%(ND); 0%(ND) | Clinical phenotype not detailed | Mother 3 and 4\. |
| 732 | 3243 | m.3243A\>G | A3243G\-F352 | A3243G\-F352\-I2 | Uninf | F | N | ND | ND | ND | 10% | / | 0% | 22%(ND); 0%(ND); 0%(ND) | In the family of Patients 3 and 4; Clinical phenotype not detailed | Aunt 3 and 4; Maternal aunt |
| 733 | 3243 | m.3243A\>G | A3243G\-F353 | A3243G\-F353\-P1 | Uninf | M | Y | Y | A | 55 | 8% | 40% | / | / | Progressive cerebellar ataxia; Dysarthria; Dysmetria; Mild proximal muscle weakness and hypotrophy; Cortical and cerebellar atrophy; RBF/COX findings | Original singleton case; no maternal relatives were studied. |
| 734 | 3243 | m.3243A\>G | A3243G\-F354 | A3243G\-F354\-P1 | Uninf | F | ND | N | ND | 46 | / | / | / | / | No clinical features reported; Normal muscle diagnosis | Table 1 Patient 1; CK 119 U/l; HP n.d.; RRF n.d.; MRC 5\.00\+/\-0\.00; Rankin 0\. |
| 735 | 3243 | m.3243A\>G | A3243G\-F355 | A3243G\-F355\-P2 | Uninf | F | ND | Y | ND | 72 | / | 53% | / | / | Short stature; Lactic acidosis; Sensorineural hearing impairment; Clinical myopathy | Table 1 Patient 2; CK 177 U/l; HP 53; RRF \+; MRC 4\.19\+/\-0\.27; Rankin 2\. |
| 736 | 3243 | m.3243A\>G | A3243G\-F356 | A3243G\-F356\-P3 | Uninf | F | ND | Y | ND | 51 | / | 75% | / | / | Diabetes; Lactic acidosis; Sensorineural hearing impairment; Vitiligo; Muscle weakness | Table 1 Patient 3; CK 214 U/l; HP 75; RRF \+; MRC 4\.77\+/\-0\.35; Rankin 1\. |
| 737 | 3243 | m.3243A\>G | A3243G\-F357 | A3243G\-F357\-P4 | Uninf | F | ND | Y | ND | 43 | / | / | / | / | Deafness; Vitiligo; Normal muscle diagnosis | Table 1 Patient 4; CK 75 U/l; HP n.d.; RRF n.d.; MRC 5\.00\+/\-0\.00; Rankin 1\. |
| 738 | 3243 | m.3243A\>G | A3243G\-F358 | A3243G\-F358\-P5 | Uninf | F | ND | Y | ND | 23 | / | / | / | / | Epilepsy; Short stature; Episodic headache; Lactic acidosis; Ptosis; Sensorineural hearing impairment; Stroke\-like episodes; Muscle weakness | Table 1 Patient 5; CK 235 U/l; HP n.d.; RRF n.d.; MRC 4\.79\+/\-0\.34; Rankin 2\. |
| 739 | 3243 | m.3243A\>G | A3243G\-F359 | A3243G\-F359\-P6 | Uninf | F | ND | Y | ND | 59 | / | 67% | / | / | Short stature; Lactic acidosis; Clinical myopathy | Table 1 Patient 6; CK 144 U/l; HP 67; RRF \+; MRC 4\.08\+/\-0\.12; Rankin 2\. |
| 740 | 3243 | m.3243A\>G | A3243G\-F360 | A3243G\-F360\-P7 | Uninf | M | ND | Y | ND | 19 | / | 76% | / | / | Cognitive decline; Short stature; Cardiac hypertrophy; Sensorineural hearing impairment; Muscle weakness | Table 1 Patient 7; CK 134 U/l; HP 76; RRF \+; MRC 4\.56\+/\-0\.43; Rankin 2\. |
| 741 | 3243 | m.3243A\>G | A3243G\-F361 | A3243G\-F361\-P8 | Uninf | M | ND | Y | ND | 52 | / | / | / | / | Lactic acidosis; Muscle weakness | Table 1 Patient 8; CK 225 U/l; HP n.d.; RRF n.d.; MRC 4\.86\+/\-0\.36; Rankin 0\. |
| 742 | 3243 | m.3243A\>G | A3243G\-F362 | A3243G\-F362\-P9 | Uninf | F | ND | N | ND | 37 | / | 59% | / | / | No clinical features reported; Normal muscle diagnosis | Table 1 Patient 9; CK 141 U/l; HP 59; RRF \-; MRC 5\.00\+/\-0\.00; Rankin 0\. |
| 743 | 3243 | m.3243A\>G | A3243G\-F363 | A3243G\-F363\-P10 | Uninf | M | ND | Y | ND | 57 | / | 72% | / | / | Ataxia; Diabetes; Short stature; Lactic acidosis; Peripheral neuropathy; Ptosis; Sensorineural hearing impairment; Clinical myopathy | Table 1 Patient 10; CK 358 U/l; HP 72; RRF \-; MRC 4\.13\+/\-0\.21; Rankin 3\. |
| 744 | 3243 | m.3243A\>G | A3243G\-F364 | A3243G\-F364\-P11 | Uninf | M | ND | Y | ND | 67 | / | 70% | / | / | Cognitive decline; Diabetes; Short stature; Cardiac hypertrophy; Lactic acidosis; Peripheral neuropathy; Sensorineural hearing impairment; Clinical myopathy | Table 1 Patient 11; CK 188 U/l; HP 70; RRF \+; MRC 4\.41\+/\-0\.37; Rankin 3\. |
| 745 | 3243 | m.3243A\>G | A3243G\-F365 | A3243G\-F365\-P12 | Uninf | F | ND | Y | ND | 21 | / | / | / | / | Epilepsy; Short stature; Episodic headache; Sensorineural hearing impairment; Clinical myopathy | Table 1 Patient 12; CK 57 U/l; HP n.d.; RRF n.d.; MRC 4\.09\+/\-0\.12; Rankin 2\. |
| 746 | 3243 | m.3243A\>G | A3243G\-F366 | A3243G\-F366\-P13 | Uninf | F | ND | Y | ND | 51 | / | 74% | / | / | Sensorineural hearing impairment; Muscle weakness | Table 1 Patient 13; CK 109 U/l; HP 74; RRF \-; MRC 4\.87\+/\-0\.30; Rankin 1\. |
| 747 | 3243 | m.3243A\>G | A3243G\-F367 | A3243G\-F367\-P14 | Uninf | F | ND | N | ND | 34 | / | 76% | / | / | No clinical features reported; Normal muscle diagnosis | Table 1 Patient 14; CK 124 U/l; HP 76; RRF \-; MRC 5\.00\+/\-0\.00; Rankin 0\. |
| 748 | 3243 | m.3243A\>G | A3243G\-F368 | A3243G\-F368\-P15 | Uninf | F | ND | Y | ND | 63 | / | 75% | / | / | Diabetes; Short stature; Lactic acidosis; Normal muscle diagnosis | Table 1 Patient 15; CK 236 U/l; HP 75; RRF \+; MRC 5\.00\+/\-0\.00; Rankin 1\. |
| 749 | 3243 | m.3243A\>G | A3243G\-F369 | A3243G\-F369\-P16 | Uninf | M | ND | Y | ND | 61 | / | 73% | / | / | Diabetes; Short stature; Cardiac hypertrophy; Muscle weakness | Table 1 Patient 16; CK 221 U/l; HP 73; RRF \+; MRC 4\.83\+/\-0\.32; Rankin 1\. |
| 750 | 3243 | m.3243A\>G | A3243G\-F370 | A3243G\-F370\-P17 | Uninf | M | ND | Y | ND | 46 | / | 86% | / | / | Cognitive decline; Sensorineural hearing impairment; Normal muscle diagnosis | Table 1 Patient 17; CK 69 U/l; HP 86; RRF \+; MRC 5\.00\+/\-0\.00; Rankin 2\. |
| 751 | 3243 | m.3243A\>G | A3243G\-F371 | A3243G\-F371\-P18 | Uninf | F | ND | Y | ND | 73 | / | / | / | / | Diabetes; Short stature; Sensorineural hearing impairment; Muscle weakness | Table 1 Patient 18; CK 93 U/l; HP n.d.; RRF n.d.; MRC 4\.77\+/\-0\.59; Rankin 1\. |
| 752 | 3243 | m.3243A\>G | A3243G\-F372 | A3243G\-F372\-P19 | Uninf | M | ND | Y | ND | 38 | / | 89% | / | / | Cognitive decline; Diabetes; Short stature; Cardiac hypertrophy; Lactic acidosis; Deafness; Normal muscle diagnosis | Table 1 Patient 19; CK 133 U/l; HP 89; RRF \+; MRC 5\.00\+/\-0\.00; Rankin 2\. |
| 753 | 3243 | m.3243A\>G | A3243G\-F373 | A3243G\-F373\-P20 | Uninf | F | ND | Y | ND | 36 | / | 83% | / | / | Basal ganglia calcifications; Cognitive decline; Diabetes; Short stature; Cardiac hypertrophy; Lactic acidosis; Pigment retinopathy; Sensorineural hearing impairment; Normal muscle diagnosis | Table 1 Patient 20; CK 654 U/l; HP 83; RRF \+; MRC 5\.00\+/\-0\.00; Rankin 2\. |
| 754 | 3243 | m.3243A\>G | A3243G\-F374 | A3243G\-F374\-P21 | Uninf | F | ND | Y | ND | 62 | / | 66% | / | / | Cognitive decline; Short stature; Cardiac hypertrophy; Sensorineural hearing impairment; Clinical myopathy | Table 1 Patient 21; CK 209 U/l; HP 66; RRF \+; MRC 4\.06\+/\-0\.11; Rankin 3\. |
| 755 | 3243 | m.3243A\>G | A3243G\-F375 | A3243G\-F375\-P22 | Uninf | F | ND | Y | ND | 29 | / | / | / | / | Cognitive decline; Diabetes; Short stature; Lactic acidosis; Muscle weakness | Table 1 Patient 22; CK 110 U/l; HP n.d.; RRF n.d.; MRC 4\.91\+/\-0\.24; Rankin 1\. |
| 756 | 3243 | m.3243A\>G | A3243G\-F376 | A3243G\-F376\-P23 | Uninf | M | ND | Y | ND | 25 | / | 94% | / | / | Cognitive decline; Diabetes; Cardiac hypertrophy; Epilepsy; Short stature; Lactic acidosis; Sensorineural hearing impairment; Stroke\-like episodes; Normal muscle diagnosis | Table 1 Patient 23; CK 147 U/l; HP 94; RRF \+; MRC 5\.00\+/\-0\.00; Rankin 2\. |
| 757 | 3243 | m.3243A\>G | A3243G\-F377 | A3243G\-F377\-P24 | Uninf | F | ND | Y | ND | 56 | / | 78% | / | / | Diabetes; Short stature; Cardiac hypertrophy; Lactic acidosis; Muscle weakness | Table 1 Patient 24; CK 133 U/l; HP 78; RRF \+; MRC 4\.86\+/\-0\.33; Rankin 1\. |
| 758 | 3243 | m.3243A\>G | A3243G\-F378 | A3243G\-F378\-P1 | Uninf | M | Y | Y | A | 73 | 0% | 3% | 1% | 0%(ND) | 20\-year progressive bilateral sensorineural hearing loss; Elevated lactate; Scattered RRF/COX\-negative fibers | Family history negative for hearing loss, diabetes, or neuromuscular disease; bilateral cochlear implantation with good postoperative hearing and communicative outcomes. |
| 759 | 3243 | m.3243A\>G | A3243G\-F379 | A3243G\-F379\-I2 | Uninf | F | ND | Y | A | 65 | \<5% | / | / | / | Diabetes onset 60; Obese; Type 2 diabetes susceptibility variants reported | Fig. 1/Table 1 Mt\- in PBL; paper says low levels in other tissues cannot be excluded. Eligible negative\-tested maternal\-line branch stop; no HNF1A M626K mutation |
| 760 | 3243 | m.3243A\>G | A3243G\-F379 | A3243G\-F379\-I6 | Uninf | M | ND | Y | A | 51 | 17% | / | / | / | Diabetes onset 43; Insulin treatment; Myocardial infarction | Table 1/Fig. 1 Mt\+; HNF1A\-wt. |
| 761 | 3243 | m.3243A\>G | A3243G\-F379 | A3243G\-F379\-I7 | Uninf | M | ND | Y | A | 52 | 13% | / | / | / | Diabetes onset 45; Oral treatment plus insulin; Hypertension | Table 1/Fig. 1 Mt\+; HNF1A\-wt. |
| 762 | 3243 | m.3243A\>G | A3243G\-F379 | A3243G\-F379\-I3 | Uninf | M | ND | Y | A | 61 | 16% | / | / | / | Diabetes onset 48; Insulin treatment; Hearing loss; Hypertension; Coronary heart disease | Table 1/Fig. 1 Mt\+; HNF1A\-wt. |
| 763 | 3243 | m.3243A\>G | A3243G\-F379 | A3243G\-F379\-I5 | Uninf | M | ND | N | A | 55 | 19% | / | / | / | Nondiabetic carrier; Myocardial infarction; Asthma | Table 1/Fig. 1 Mt\+; HNF1A\-wt. |
| 764 | 3243 | m.3243A\>G | A3243G\-F379 | A3243G\-F379\-II1 | Fam | M | ND | N | A | 46 | 28% | / | / | / | Nondiabetic carrier; Glaucoma | Table 1/Fig. 1 Mt\+; HNF1A\-wt. |
| 765 | 3243 | m.3243A\>G | A3243G\-F379 | A3243G\-F379\-II2 | Fam | M | ND | Y | A | 41 | 34% | / | / | / | Nondiabetic carrier; Hypertension; Asthma | Table 1/Fig. 1 Mt\+; HNF1A\-wt. |
| 766 | 3243 | m.3243A\>G | A3243G\-F379 | A3243G\-F379\-III7 | Fam | M | ND | Y | A | 17 | 8% | / | / | / | Severe mental retardation; Marked sensory neural symptoms; No diabetes reported | Table 1/Fig. 1 Mt\+; HNF1A\-wt; paper says neurologic symptoms may be due to asphyxia and not MIDD. |
| 767 | 3243 | m.3243A\>G | A3243G\-F379 | A3243G\-F379\-I4 | Uninf | F | ND | Y | A | 56 | 19% | / | / | / | Diabetes onset 21; Short stature; Hearing loss; Hypertension; Cardiomyopathy; MELAS | Table 1/Fig. 1 Mt\+; also HNF1A M626K carrier. |
| 768 | 3243 | m.3243A\>G | A3243G\-F379 | A3243G\-F379\-II6 | Fam | F | ND | Y | A | 30 | 42% | / | / | / | Diabetes onset 22; Short stature; Hearing loss; Mild mental retardation; Pigment epithelium degeneration; Facial palsy; Muscle spasticity | Table 1/Fig. 1 Mt\+; also HNF1A M626K carrier. |
| 769 | 3243 | m.3243A\>G | A3243G\-F379 | A3243G\-F379\-II5 | Fam | M | ND | Y | A | 26 | 45% | / | / | / | Diabetes onset 24; Insulin treatment | Table 1/Fig. 1 Mt\+; also HNF1A M626K carrier. |
| 770 | 3243 | m.3243A\>G | A3243G\-F379 | A3243G\-F379\-I1 | Uninf | F | ND | Y | A | 65 | \<5% | / | / | / | Diabetes onset 58; Diet treatment | Table 1/Fig. 1 Mt\+; also HNF1A M626K carrier. |
| 771 | 3243 | m.3243A\>G | A3243G\-F379 | A3243G\-F379\-II4 | Fam | F | ND | Y | A | 44 | \<5% | / | / | / | Short stature; Hearing loss; Sporadic headache; Impaired cognitive function; Epilepsy | Table 1/Fig. 1 Mt\+; also HNF1A M626K carrier. |
| 772 | 3243 | m.3243A\>G | A3243G\-F379 | A3243G\-F379\-II3 | Fam | F | ND | N | A | 48 | 5% | / | / | / | Nondiabetic carrier; Sporadic headache | Table 1/Fig. 1 Mt\+; also HNF1A M626K carrier. |
| 773 | 3243 | m.3243A\>G | A3243G\-F380 | A3243G\-F380\-I1 | Uninf | F | N | Y | A | 30 | / | 72% | / | / | MELAS; Short stature; Sensorineural deafness; Stroke\-like episodes; Epilepsy; Myopathy; LVH; LVF | Table 1 case 1/A; age at onset 13; quadriceps muscle. |
| 774 | 3243 | m.3243A\>G | A3243G\-F380 | A3243G\-F380\-I2 | Uninf | F | N | N | A | 26 | / | 86% | / | / | Healthy | Table 1 case 2/A; quadriceps muscle; Healthy |
| 775 | 3243 | m.3243A\>G | A3243G\-F380 | A3243G\-F380\-I3 | Uninf | F | N | N | A | 30 | / | 73% | / | / | Healthy | Table 1 case 3/A; quadriceps muscle; Healthy |
| 776 | 3243 | m.3243A\>G | A3243G\-F380 | A3243G\-F380\-I4 | Uninf | F | N | N | A | 33 | / | 64% | / | / | Healthy | Table 1 case 4/A; cousin in family A; quadriceps muscle; Healthy |
| 777 | 3243 | m.3243A\>G | A3243G\-F381 | A3243G\-F381\-I1 | Uninf | F | N | Y | A | 41 | / | 80% | / | / | Diabetes and deafness; Sensorineural deafness; Diabetes mellitus; Short stature | Table 1 case 5/B; age at onset 25; quadriceps muscle. |
| 778 | 3243 | m.3243A\>G | A3243G\-F381 | A3243G\-F381\-I2 | Uninf | F | N | Y | A | 39 | / | 32% | / | / | Diabetes and deafness; Celiac disease; Impaired glucose tolerance | Table 1 case 6/B; age at onset 34; quadriceps muscle; family phenotype |
| 779 | 3243 | m.3243A\>G | A3243G\-F382 | A3243G\-F382\-P1 | Uninf | M | N | Y | A | 33 | / | 6% | / | / | MELAS phenotype; Exercise intolerance | Table 1 case 7/C; quadriceps muscle. |
| 780 | 3243 | m.3243A\>G | A3243G\-F383 | A3243G\-F383\-P1 | Uninf | F | N | Y | A | 50 | / | 53% | / | / | MELAS/diabetes; Short stature; Sensorineural deafness; Stroke\-like episodes; Epilepsy; Diabetes mellitus | Table 1 case 8/D; age at onset 13; quadriceps muscle. |
| 781 | 3243 | m.3243A\>G | A3243G\-F384 | A3243G\-F384\-P3 | Fam | M | Y | Y | A | 16 | 64% | 83% | / | / | Progressive sensorineural hearing loss, migraine, exercise intolerance, loss\-of\-tone attacks, delayed speech/school problems, moderate retardation, ragged\-red fibers, cerebellar atrophy | Patient 3; Table 2 A3243G heteroplasmy. |
| 782 | 3243 | m.3243A\>G | A3243G\-F384 | A3243G\-F384\-P1 | Fam | F | N | Y | A | ND | 34% | / | / | / | Gestational diabetes during the last two pregnancies | Mother; Table 2 blood A3243G load. |
| 783 | 3243 | m.3243A\>G | A3243G\-F384 | A3243G\-F384\-P2 | Fam | F | N | Y | A | 57 onset | 29% | / | / | / | Sensorineural hearing loss at age 57 | Maternal grandmother; Table 2 blood A3243G load. |
| 784 | 3243 | m.3243A\>G | A3243G\-F384 | A3243G\-F384\-P4 | Fam | ND | N | N | A | ND | / | / | / | / | Healthy | No molecular testing in child; included because mother has confirmed mutation load and child phenotype is explicitly reported; Healthy younger sibling |
| 785 | 3243 | m.3243A\>G | A3243G\-F384 | A3243G\-F384\-P5 | Fam | ND | N | N | A | ND | / | / | / | / | Healthy | No molecular testing in child; included because mother has confirmed mutation load and child phenotype is explicitly reported; Healthy younger sibling |
| 786 | 3243 | m.3243A\>G | A3243G\-F384 | A3243G\-F384\-P6 | Fam | ND | N | N | A | ND | / | / | / | / | Healthy | No molecular testing in child; included because mother has confirmed mutation load and child phenotype is explicitly reported; Healthy younger sibling |
| 787 | 3243 | m.3243A\>G | A3243G\-F385 | A3243G\-F385\-I1 | Uninf | F | N | N | A | 41 | 13% | / | 34% | 17%(BM); 24%(F); 7\-24%(H) | Healthy | Fig. 3 I\-1 mother; cheek mucosa abbreviated BM, fibroblasts F, hair roots H; Healthy |
| 788 | 3243 | m.3243A\>G | A3243G\-F385 | A3243G\-F385\-II1 | Fam | M | Y | Y | D | 10 | 47% | / | / | 72%(F) | MELAS; Died at age 10 | Fig. 3 II\-1 proband; only blood and fibroblasts were available. |
| 789 | 3243 | m.3243A\>G | A3243G\-F385 | A3243G\-F385\-II2 | Fam | M | N | Y | A | 14 | 34% | / | 33% | 24%(ND); 40%(ND); 12\-69%(ND) | Oligosymptomatic carrier | Fig. 3 II\-2 brother; A3243G detected in all five accessible tissues. |
| 790 | 3243 | m.3243A\>G | A3243G\-F385 | A3243G\-F385\-II3 | Fam | F | N | N | A | 10 | 0 | / | 0 | 0%(BM); 0%(F); 0%(H) | Healthy | Eligible negative\-tested daughter of target\-positive mother; record as branch stop for downstream G/H eligibility; Asymptomatic; expected maternal\-line carrier but A3243G was not detected in the tested accessible tissues |
| 791 | 3243 | m.3243A\>G | A3243G\-F386 | A3243G\-F386\-P1 | Fam | F | Y | Y | A | 32 | 0 | / | / | / | Type 2 diabetes onset at 2; Trace proteinuria; No hearing impairment; No visual impairment; No neurologic impairment; Plasma lactate 1\.24 mmol/L; Diet treatment | PCR\-RFLP; A3243G detected in BM DNA and not detectable in PBL DNA; Table 1 Patient 1; no pedigree/tested relatives. |
| 792 | 3243 | m.3243A\>G | A3243G\-F387 | A3243G\-F387\-P16 | Fam | M | Y | Y | A | 44 | 0 | / | / | / | Type 2 diabetes onset at 33; Partial deafness; Short\-sightedness; Polyneuropathy; Proteinuria 0\.1 g/L; Plasma lactate 2\.43 mmol/L; Insulin treatment | PCR\-RFLP; Fig. 1 lane 3 BM DNA positive and lane 5 PBL DNA negative; Table 1 Patient 16; no pedigree/tested relatives. |
| 793 | 3243 | m.3243A\>G | A3243G\-F388 | A3243G\-F388\-P1 | Fam | F | Y | Y | A | 31 | 30% | / | 68% | / | Severe steroid\-resistant nephrotic syndrome; FSGS; Hearing loss 35 dB; Concentric left ventricular hypertrophy; Steroid\-induced diabetes | Proband. |
| 794 | 3243 | m.3243A\>G | A3243G\-F388 | A3243G\-F388\-P2 | Fam | F | N | N | A | ND | 0% | / | 62% | / | Healthy | No clinical symptoms related to A3243G reported |
| 795 | 3243 | m.3243A\>G | A3243G\-F388 | A3243G\-F388\-P3 | Fam | F | N | Y | A | ND | 25% | / | 28% | / | Insulin\-dependent diabetes mellitus | / |
| 796 | 3243 | m.3243A\>G | A3243G\-F388 | A3243G\-F388\-P4 | Fam | F | N | N | A | ND | 51% | / | 52% | / | Healthy | Healthy |
| 797 | 3243 | m.3243A\>G | A3243G\-F389 | A3243G\-F389\-P1 | Uninf | F | Y | Y | D | 30 | / | / | / | 0\.9%(First polar body); 1\.0%(And); \>0\.5%(ND) | Bipolar disorder; Onset age 7 | Bipolar Disorder case 1 from Table 3; detected by PNA\-clamped PCR\-RFLP in postmortem brain and liver. The paper reports the two bipolar brain loads as 0\.9% and 1\.0% but the extracted text does not map each value to a named bipolar case. |
| 798 | 3243 | m.3243A\>G | A3243G\-F390 | A3243G\-F390\-P2 | Uninf | F | Y | Y | D | 31 | / | / | / | 0\.9%(First polar body); 1\.0%(And); \>0\.5%(ND) | Bipolar disorder; Onset age 21 | Bipolar Disorder case 2 from Table 3; detected by PNA\-clamped PCR\-RFLP in postmortem brain and liver. The paper reports the two bipolar brain loads as 0\.9% and 1\.0% but the extracted text does not map each value to a named bipolar case. |
| 799 | 3243 | m.3243A\>G | A3243G\-F391 | A3243G\-F391\-P3 | Uninf | M | Y | Y | D | 56 | / | / | / | 0\.6%(ND); \>0\.5%(ND) | Schizophrenia; Onset age 24 | Table 3 schizophrenia case, age 56; cause of death: suicide by overdose; medication treated; family history: schizophrenia in a first\-degree relative. |
| 800 | 3243 | m.3243A\>G | A3243G\-F392 | A3243G\-F392\-P1 | Uninf | M | ND | Y | ND | 32 | 18\.6% | 49\.7% | / | / | Muscle weakness | P1; onset age 31, examination age 32\. |
| 801 | 3243 | m.3243A\>G | A3243G\-F393 | A3243G\-F393\-P2 | Uninf | F | ND | Y | ND | 41 | 16\.6% | / | / | / | Stroke\-like episodes; Dementia; Diabetes mellitus | P2; onset age 18, examination age 41\. |
| 802 | 3243 | m.3243A\>G | A3243G\-F394 | A3243G\-F394\-P3 | Uninf | F | ND | Y | ND | 48 | 25\.3% | / | / | / | Stroke\-like episodes; Migraine headache; Dementia | P3; onset age 20, examination age 48\. |
| 803 | 3243 | m.3243A\>G | A3243G\-F395 | A3243G\-F395\-P4 | Uninf | F | ND | Y | ND | 32 | 28\.5% | / | / | / | Stroke\-like episodes; Migraine headache; Dementia | P4; onset age 28 and examination age 32; clinical family history \+ is aggregate and not mapped to a carrier row. |
| 804 | 3243 | m.3243A\>G | A3243G\-F396 | A3243G\-F396\-P5 | Uninf | F | ND | Y | ND | 60 | 16\.0% | / | / | / | Stroke\-like episodes; Diabetes mellitus | P5; onset age 46 and examination age 60; clinical family history \+ is aggregate and not mapped to a carrier row. |
| 805 | 3243 | m.3243A\>G | A3243G\-F397 | A3243G\-F397\-P6 | Uninf | F | ND | Y | ND | 34 | 38\.5% | / | / | / | Stroke\-like episodes; Migraine headache; Dementia | P6; onset age 12 and examination age 34; clinical family history \+ is aggregate and not mapped to a carrier row. |
| 806 | 3243 | m.3243A\>G | A3243G\-F398 | A3243G\-F398\-P1 | Fam | F | Y | Y | A | 7 | / | / | / | / | MELAS; Exercise fatigue and progressive muscle weakness from age 3, inability to stand by 5 yr 1 mo, ragged\-red fibers, complex partial seizure, headache/photopsia/vomiting and suspected stroke\-like episode | mtDNA analysis revealed A3243G; exact tissue and load not reported. |
| 807 | 3243 | m.3243A\>G | A3243G\-F398 | A3243G\-F398\-P2 | Fam | F | N | ND | ND | ND | / | / | / | / | Clinical phenotype not described | Mother's mtDNA analysis revealed A3243G; tissue and load not reported. |
| 808 | 3243 | m.3243A\>G | A3243G\-F399 | A3243G\-F399\-P1 | Uninf | M | ND | Y | D | 1 year | / | 92% | / | / | Leigh syndrome; Lactic acidosis | Age is onset age because evaluation age is not reported; died at 8 years; Table 4 A3243G percentage; family history negative |
| 809 | 3243 | m.3243A\>G | A3243G\-F400 | A3243G\-F400\-P2 | Uninf | F | ND | Y | D | 3 mo | / | 78% | / | / | Leigh disease; Lactic acidosis | Age is onset age because evaluation age is not reported; died at 6 months; Table 4 A3243G percentage; family history negative |
| 810 | 3243 | m.3243A\>G | A3243G\-F401 | A3243G\-F401\-P5 | Uninf | F | ND | Y | ND | 6 years | / | 67% | / | / | MELAS with dementia; Lactic acidosis | Age is onset age because evaluation age is not reported; Table 4 A3243G percentage; family history positive |
| 811 | 3243 | m.3243A\>G | A3243G\-F402 | A3243G\-F402\-P6 | Uninf | F | ND | Y | ND | 11 years | / | 15% | / | / | MELAS; Lactic acidosis | Age is onset age because evaluation age is not reported; Table 4 A3243G percentage; family history positive |
| 812 | 3243 | m.3243A\>G | A3243G\-F403 | A3243G\-F403\-P7 | Uninf | F | ND | Y | ND | 10 years | / | 72% | / | / | MELAS; Lactic acidosis | Age is onset age because evaluation age is not reported; Table 4 A3243G percentage; family history positive |
| 813 | 3243 | m.3243A\>G | A3243G\-F404 | A3243G\-F404\-P8 | Uninf | M | ND | Y | ND | 14 years | / | 68% | / | / | MELAS; Lactic acidosis | Age is onset age because evaluation age is not reported; Table 4 A3243G percentage; family history positive |
| 814 | 3243 | m.3243A\>G | A3243G\-F405 | A3243G\-F405\-P9 | Uninf | M | ND | Y | ND | 10 years | / | 26% | / | / | MELAS with diabetes mellitus; Lactic acidosis | Age is onset age because evaluation age is not reported; Table 4 A3243G percentage; family history negative |
| 815 | 3243 | m.3243A\>G | A3243G\-F406 | A3243G\-F406\-P10 | Uninf | M | ND | Y | ND | 6 years | / | 5% | / | / | MELA; Lactic acidosis | Age is onset age because evaluation age is not reported; Table 4 A3243G percentage; family history positive |
| 816 | 3243 | m.3243A\>G | A3243G\-F407 | A3243G\-F407\-III3 | Fam | M | N | N | A | 45 | 0% | / | / | / | Healthy | Table 1 subject III\-3; branch\-stop tested negative; Healthy |
| 817 | 3243 | m.3243A\>G | A3243G\-F407 | A3243G\-F407\-III4 | Fam | F | N | Y | A | 42 | 37\.8% | / | / | / | Diabetes onset 30; Hearing impairment; No ketoacidosis | Table 1 subject III\-4; Fig.1/Table 1 label caveat. |
| 818 | 3243 | m.3243A\>G | A3243G\-F407 | A3243G\-F407\-III5 | Fam | M | N | Y | A | 28 | 58\.1% | / | / | / | Diabetes onset 15; Hearing impairment; Ketoacidosis | Table 1 subject III\-5; Fig.1/Table 1 label caveat. |
| 819 | 3243 | m.3243A\>G | A3243G\-F407 | A3243G\-F407\-III6 | Fam | M | Y | Y | A | 36 | 36\.7% | / | / | / | Diabetes onset 33 | Proband; Table 1 subject III\-6\. |
| 820 | 3243 | m.3243A\>G | A3243G\-F407 | A3243G\-F407\-IV1 | Fam | M | N | N | A | 21 | 35\.4% | / | / | / | Healthy | Table 1 subject IV\-1; Healthy |
| 821 | 3243 | m.3243A\>G | A3243G\-F408 | A3243G\-F408\-P1 | Uninf | F | ND | N | ND | 18 | / | / | / | / | Healthy | The paper reports blood and muscle DNA testing methods and group muscle heteroplasmy ranges, but no individual exact load; Asymptomatic m.3243A\>G carrier; exercise Wa/Wp 107%; biopsy normal; no ST\-T abnormality; Holter normal |
| 822 | 3243 | m.3243A\>G | A3243G\-F409 | A3243G\-F409\-P2 | Uninf | F | ND | N | ND | 25 | / | / | / | / | Healthy | The paper reports blood and muscle DNA testing methods and group muscle heteroplasmy ranges, but no individual exact load; Asymptomatic m.3243A\>G carrier; exercise Wa/Wp 105%; biopsy normal; no ST\-T abnormality; Holter normal |
| 823 | 3243 | m.3243A\>G | A3243G\-F410 | A3243G\-F410\-P3 | Uninf | M | ND | N | ND | 33 | / | / | / | / | Healthy | The paper reports blood and muscle DNA testing methods and group muscle heteroplasmy ranges, but no individual exact load; Asymptomatic m.3243A\>G carrier; exercise Wa/Wp 118%; biopsy showed succinate dehydrogenase; no ST\-T abnormality; Holter normal |
| 824 | 3243 | m.3243A\>G | A3243G\-F411 | A3243G\-F411\-P4 | Uninf | F | ND | Y | ND | 51 | / | / | / | / | Asymptomatic m.3243A\>G carrier; Exercise Wa/Wp 83%; Biopsy normal; No ST\-T abnormality; Holter normal; Diabetes and hypertension history | The paper reports blood and muscle DNA testing methods and group muscle heteroplasmy ranges, but no individual exact load. |
| 825 | 3243 | m.3243A\>G | A3243G\-F412 | A3243G\-F412\-P5 | Uninf | F | ND | Y | ND | 20 | / | / | / | / | MELAS phenotype; Exercise Wa/Wp 67%; Biopsy normal; ST\-T abnormality; Holter normal | The paper reports blood and muscle DNA testing methods and group muscle heteroplasmy ranges, but no individual exact load. |
| 826 | 3243 | m.3243A\>G | A3243G\-F413 | A3243G\-F413\-P6 | Uninf | M | ND | Y | ND | 26 | / | / | / | / | MELAS phenotype; Exercise Wa/Wp 40%; Ragged red fiber on biopsy; ST\-T abnormality; Holter normal | The paper reports blood and muscle DNA testing methods and group muscle heteroplasmy ranges, but no individual exact load. |
| 827 | 3243 | m.3243A\>G | A3243G\-F414 | A3243G\-F414\-P7 | Uninf | M | ND | Y | ND | 28 | / | / | / | / | MELAS phenotype; Exercise impossible because of severe neurological pathology; Ragged red fiber on biopsy; No ST\-T abnormality; Holter normal; Diabetes history | The paper reports blood and muscle DNA testing methods and group muscle heteroplasmy ranges, but no individual exact load. |
| 828 | 3243 | m.3243A\>G | A3243G\-F415 | A3243G\-F415\-P8 | Uninf | F | ND | Y | ND | 34 | / | / | / | / | MELAS phenotype; Exercise impossible because of severe neurological pathology; Ragged red fiber on biopsy; No ST\-T abnormality; Holter normal | The paper reports blood and muscle DNA testing methods and group muscle heteroplasmy ranges, but no individual exact load. |
| 829 | 3243 | m.3243A\>G | A3243G\-F416 | A3243G\-F416\-P9 | Uninf | F | ND | Y | ND | 39 | / | / | / | / | MELAS phenotype; Exercise Wa/Wp 24%; Ragged red fiber on biopsy; ST\-T abnormality; Holter normal; Treated myocardial disease | The paper reports blood and muscle DNA testing methods and group muscle heteroplasmy ranges, but no individual exact load. |
| 830 | 3243 | m.3243A\>G | A3243G\-F417 | A3243G\-F417\-P10 | Uninf | M | ND | Y | ND | 42 | / | / | / | / | MELAS phenotype; Exercise Wa/Wp 28%; Ragged red fiber on biopsy; Left bundle branch block/ST\-T abnormality; Holter normal; Diabetes, hypertension, and treated myocardial disease | The paper reports blood and muscle DNA testing methods and group muscle heteroplasmy ranges, but no individual exact load. |
| 831 | 3243 | m.3243A\>G | A3243G\-F418 | A3243G\-F418\-P11 | Uninf | M | ND | Y | ND | 51 | / | / | / | / | MELAS phenotype; Exercise impossible because of severe neurological pathology; Ragged red fiber on biopsy; ST\-T abnormality; Holter normal; Diabetes and hypertension history | The paper reports blood and muscle DNA testing methods and group muscle heteroplasmy ranges, but no individual exact load. |
| 832 | 3243 | m.3243A\>G | A3243G\-F419 | A3243G\-F419\-P12 | Uninf | F | ND | Y | ND | 57 | / | / | / | / | MELAS phenotype; Exercise Wa/Wp 50%; Biopsy not available; ST\-T abnormality; Holter normal | The paper reports blood and muscle DNA testing methods and group muscle heteroplasmy ranges, but no individual exact load. |
| 833 | 3243 | m.3243A\>G | A3243G\-F420 | A3243G\-F420\-II1 | Fam | F | N | Y | A | ND | / | / | / | / | Mild bilateral hearing impairment | Figure 2 II1, proband's mother; DGGE tissue lanes show A3243G heteroplasmy; exact percentages not reported. |
| 834 | 3243 | m.3243A\>G | A3243G\-F420 | A3243G\-F420\-III1 | Fam | M | N | N | A | ND | 0 | / | / | / | Healthy | Eligible negative\-tested child of target\-positive mother; Figure 2 III1 blood lane interpreted as undetectable/wild type and recorded as branch stop; Unaffected brother in pedigree |
| 835 | 3243 | m.3243A\>G | A3243G\-F420 | A3243G\-F420\-III2 | Fam | F | Y | Y | A | 25 consultation; onset second decade | / | / | / | / | Progressive sensorineural hearing loss from second decade; Later glucose intolerance, mild proximal weakness and elevated lactate/pyruvate | Figure 2 III2 proband; A3243G confirmed by DGGE and DNA sequencing. |
| 836 | 3243 | m.3243A\>G | A3243G\-F420 | A3243G\-F420\-II2 | Fam | F | N | Y | A | ND | / | / | / | / | Mild bilateral hearing impairment | Figure 2 II2, proband's aunt; blood low\-level heteroplasmic by DGGE. |
| 837 | 3243 | m.3243A\>G | A3243G\-F420 | A3243G\-F420\-II3 | Fam | F | N | Y | A | ND | / | / | / | / | Mild bilateral hearing impairment | Figure 2 II3, proband's aunt; blood low\-level heteroplasmic by DGGE. |
| 838 | 3243 | m.3243A\>G | A3243G\-F421 | A3243G\-F421\-P1 | Uninf | M | Y | Y | A | 32 | / | / | / | / | MELAS with seizures, encephalopathy, vomiting, stroke\-like lesion, elevated blood/CSF lactate, RRF/SDH\+/COX\- muscle biopsy | A3243G identified in DNA from blood and muscle biopsy. |
| 839 | 3243 | m.3243A\>G | A3243G\-F422 | A3243G\-F422\-P2 | Uninf | F | Y | Y | A | 34 | / | / | / | / | Hearing loss, migraine, epilepsy/stroke\-like episode, diabetes mellitus, elevated lactate, RRF/SDH\+ muscle biopsy | Group 2 A3243G\-positive MELAS patient; blood leukocyte mutation positive but exact load not reported. |
| 840 | 3243 | m.3243A\>G | A3243G\-F423 | A3243G\-F423\-P1 | Fam | M | Y | Y | D | 15 at death | / | / | / | / | MELAS with epileptic seizures from age 9, stroke\-like episodes, elevated lactate, RRF/SDH\+/COX\- muscle biopsy; Died at age 15 | Fig.2 filled square; A3243G present in all tissues studied postmortem. |
| 841 | 3243 | m.3243A\>G | A3243G\-F423 | A3243G\-F423\-P2 | Fam | F | N | N | ND | ND | / | / | / | / | Healthy | Fig.2 circle with A3243G PCR/RFLP mutant fragments; exact load not quantified; Asymptomatic female carrier in Fig.2 |
| 842 | 3243 | m.3243A\>G | A3243G\-F423 | A3243G\-F423\-P3 | Fam | F | N | N | ND | ND | / | / | / | / | Healthy | Fig.2 circle with A3243G PCR/RFLP mutant fragments; exact load not quantified; Asymptomatic female carrier in Fig.2 |
| 843 | 3243 | m.3243A\>G | A3243G\-F423 | A3243G\-F423\-P5 | Fam | F | N | N | ND | ND | / | / | / | / | Healthy | Fig.2 circle with A3243G PCR/RFLP mutant fragments; exact load not quantified; Asymptomatic female carrier in Fig.2 |
| 844 | 3243 | m.3243A\>G | A3243G\-F424 | A3243G\-F424\-II1 | Fam | ND | N | Y | ND | ND | / | 51% | / | / | SNHI; Short stature | Table 4 Family A II\-1; heteroplasmy source per table footnotes. |
| 845 | 3243 | m.3243A\>G | A3243G\-F424 | A3243G\-F424\-II2 | Fam | ND | N | Y | ND | ND | / | 76% | / | / | Migraine; Learning difficulties; Delayed maturation | Table 4 Family A II\-2; heteroplasmy source per table footnotes. |
| 846 | 3243 | m.3243A\>G | A3243G\-F424 | A3243G\-F424\-II7 | Fam | ND | N | Y | ND | ND | / | 81% | / | / | Short stature | Table 4 Family A II\-7; heteroplasmy source per table footnotes. |
| 847 | 3243 | m.3243A\>G | A3243G\-F424 | A3243G\-F424\-II8 | Fam | ND | N | Y | ND | ND | / | 69% | / | / | Learning difficulties; Delayed speech development | Table 4 Family A II\-8; heteroplasmy source per table footnotes. |
| 848 | 3243 | m.3243A\>G | A3243G\-F425 | A3243G\-F425\-II2 | Fam | ND | N | Y | ND | ND | / | 67% | / | / | SNHI; Ptosis | Table 4 Family C II\-2; heteroplasmy source per table footnotes. |
| 849 | 3243 | m.3243A\>G | A3243G\-F426 | A3243G\-F426\-II2 | Fam | ND | N | Y | ND | ND | / | / | / | 52%(ND) | Exercise intolerance | Table 4 Family D II\-2; heteroplasmy source per table footnotes. |
| 850 | 3243 | m.3243A\>G | A3243G\-F426 | A3243G\-F426\-II3 | Fam | ND | N | Y | ND | ND | / | / | / | 53%(ND) | SNHI; Vitiligo | Table 4 Family D II\-3; heteroplasmy source per table footnotes. |
| 851 | 3243 | m.3243A\>G | A3243G\-F427 | A3243G\-F427\-II1 | Fam | ND | N | Y | ND | ND | / | 75% | / | / | Short stature | Table 4 Family H II\-1; heteroplasmy source per table footnotes. |
| 852 | 3243 | m.3243A\>G | A3243G\-F427 | A3243G\-F427\-III1 | Fam | ND | N | Y | D | ND | / | / | / | 71%(ND) | Prematurity; Died at 18 hours | Table 4 Family H III\-1; heteroplasmy source per table footnotes. Cardiac muscle obtained at autopsy; died at age 18 hours. |
| 853 | 3243 | m.3243A\>G | A3243G\-F428 | A3243G\-F428\-II1 | Fam | ND | N | Y | ND | ND | / | 43% | / | / | SNHI; Learning difficulties; Dysarthria | Table 4 Family I II\-1; heteroplasmy source per table footnotes. |
| 854 | 3243 | m.3243A\>G | A3243G\-F428 | A3243G\-F428\-II2 | Fam | ND | N | Y | ND | ND | / | 64% | / | / | Exercise intolerance | Table 4 Family I II\-2; heteroplasmy source per table footnotes. |
| 855 | 3243 | m.3243A\>G | A3243G\-F428 | A3243G\-F428\-II3 | Fam | ND | N | Y | ND | ND | / | 83% | / | / | SNHI; Migraine; Delayed maturation | Table 4 Family I II\-3; heteroplasmy source per table footnotes. |
| 856 | 3243 | m.3243A\>G | A3243G\-F429 | A3243G\-F429\-II1 | Fam | ND | N | Y | ND | ND | / | 84% | / | / | SNHI; Short stature; Migraine; Exercise intolerance; Anemia | Table 4 Family J II\-1; heteroplasmy source per table footnotes. |
| 857 | 3243 | m.3243A\>G | A3243G\-F430 | A3243G\-F430\-II4 | Fam | ND | N | Y | ND | ND | / | / | / | 49%(ND) | Short stature | Table 4 Family K II\-4; heteroplasmy source per table footnotes. |
| 858 | 3243 | m.3243A\>G | A3243G\-F431 | A3243G\-F431\-I1 | Uninf | ND | N | Y | ND | ND | / | 61% | / | / | Exercise intolerance | Table 4 Family L I\-1; heteroplasmy source per table footnotes. |
| 859 | 3243 | m.3243A\>G | A3243G\-F432 | A3243G\-F432\-II1 | Fam | ND | N | Y | ND | ND | / | / | / | 63%(ND) | SNHI; Short stature; Migraine; Learning difficulties; Delayed motor development | Table 4 Family M II\-1; heteroplasmy source per table footnotes. |
| 860 | 3243 | m.3243A\>G | A3243G\-F432 | A3243G\-F432\-II2 | Fam | ND | N | Y | ND | ND | / | 87% | / | / | SNHI; Short stature | Table 4 Family M II\-2; heteroplasmy source per table footnotes. |
| 861 | 3243 | m.3243A\>G | A3243G\-F433 | A3243G\-F433\-II1 | Fam | ND | N | Y | ND | ND | / | 30% | / | / | Migraine; Ptosis | Table 4 Family N II\-1; heteroplasmy source per table footnotes. |
| 862 | 3243 | m.3243A\>G | A3243G\-F434 | A3243G\-F434\-II2 | Fam | ND | N | Y | ND | ND | / | / | / | 47%(ND) | Migraine; Delayed maturation | Table 4 Family O II\-2; heteroplasmy source per table footnotes. |
| 863 | 3243 | m.3243A\>G | A3243G\-F434 | A3243G\-F434\-II6 | Fam | ND | N | Y | ND | ND | / | / | / | 41%(ND) | Strabismus | Table 4 Family O II\-6; heteroplasmy source per table footnotes. |
| 864 | 3243 | m.3243A\>G | A3243G\-F434 | A3243G\-F434\-II7 | Fam | ND | N | Y | ND | ND | / | 85% | / | / | SNHI; Short stature; Paralytic ileus | Table 4 Family O II\-7; heteroplasmy source per table footnotes. |
| 865 | 3243 | m.3243A\>G | A3243G\-F435 | A3243G\-F435\-I1 | Uninf | ND | N | Y | ND | ND | / | / | / | 65%(ND) | SNHI; Migraine | Table 4 Family P I\-1; heteroplasmy source per table footnotes. |
| 866 | 3243 | m.3243A\>G | A3243G\-F436 | A3243G\-F436\-P1 | Uninf | M | Y | Y | A | 26 | / | / | / | / | MELAS with encephalopathy, seizures/loss of consciousness, cortical blindness, stroke\-like brain lesions, lactic acidosis, intestinal dysmotility/pseudo\-obstruction and vasculitis mimic | Genetic testing documented A3243G; the PDF does not report heteroplasmy percentage or relative testing. |
| 867 | 3243 | m.3243A\>G | A3243G\-F437 | A3243G\-F437\-P1 | Uninf | F | Y | Y | D | 26 | / | / | / | 67%(ND) | MELAS; Stroke\-like episodes with vomiting, headache, convulsion or visual symptoms; Progressive dementia; Died at 26 | Patient 1; Table 1 reports A3243G 67% but does not specify tissue. |
| 868 | 3243 | m.3243A\>G | A3243G\-F438 | A3243G\-F438\-P2 | Fam | M | Y | Y | ND | 19 | / | / | / | 56%(ND) | MELAS; Stroke\-like episodes | Patient 2; Table 1 reports A3243G 56% but does not specify tissue; brother/sibling of Patient 3 |
| 869 | 3243 | m.3243A\>G | A3243G\-F438 | A3243G\-F438\-P3 | Fam | M | N | Y | ND | 16 | / | / | / | 65%(ND) | MELAS; Stroke\-like episodes | Patient 3; Table 1 reports A3243G 65% but does not specify tissue; brother/sibling of Patient 2 |
| 870 | 3243 | m.3243A\>G | A3243G\-F439 | A3243G\-F439\-P4 | Uninf | M | Y | Y | D | 11 | / | / | / | 68%(ND) | MELAS; First stroke\-like episode at 11; Died one month later | Patient 4; Table 1 reports A3243G 68% but does not specify tissue. |
| 871 | 3243 | m.3243A\>G | A3243G\-F440 | A3243G\-F440\-P5 | Uninf | F | Y | Y | ND | 23 | / | / | / | 63%(ND) | MELAS; Stroke\-like episodes and progressive dementia | Patient 5; Table 1 reports A3243G 63% but does not specify tissue. |
| 872 | 3243 | m.3243A\>G | A3243G\-F441 | A3243G\-F441\-P1 | Fam | F | Y | Y | A | 49 | / | / | / | / | Mitochondrial cardiomyopathy; Heart, hepatic, and renal failure; Lactic acidosis; Short stature; Hearing difficulty; AV block; Permanent pacemaker; Abnormal glucose tolerance; Mild muscle atrophy | A3243G identified from leukocytes and sternocleidomastoid muscle; exact mutant load not reported. |
| 873 | 3243 | m.3243A\>G | A3243G\-F441 | A3243G\-F441\-P2 | Fam | F | N | Y | ND | ND | / | / | / | / | Short stature | No molecular testing in child; included because mother has confirmed A3243G and child phenotype is explicitly reported. |
| 874 | 3243 | m.3243A\>G | A3243G\-F441 | A3243G\-F441\-P3 | Fam | F | N | Y | ND | ND | / | / | / | / | Short stature | No molecular testing in child; included because mother has confirmed A3243G and child phenotype is explicitly reported. |
| 875 | 3243 | m.3243A\>G | A3243G\-F442 | A3243G\-F442\-III2 | Fam | M | Y | Y | A | 38 | / | / | / | / | Proteinuria and slight renal dysfunction; Diabetes from age 32; Mild sensorineural hearing loss/tinnitus since age 29; Alport\-like mitochondrial disease | / |
| 876 | 3243 | m.3243A\>G | A3243G\-F442 | A3243G\-F442\-III1 | Fam | F | N | Y | A | ND | / | / | / | / | Elder sister; Proteinuria from teens, dialysis at age 32, moderate bilateral sensorineural hearing loss, bilateral hearing aids at 35 | / |
| 877 | 3243 | m.3243A\>G | A3243G\-F443 | A3243G\-F443\-P1 | Uninf | F | Y | Y | ND | 33\.1; duration 7 | 18% | / | / | / | Young adult diabetes; Treatment OGLA; BMI 22\.1; Metabolic syndrome Yes; Maternal diabetes FH Yes; Maternal hearing FH No; Self\-reported hearing No; Audiogram Normal | Case 1; Table 1 subject\-level mt3243A\>G heteroplasmy. Family histories are not individual A3243G molecular evidence. |
| 878 | 3243 | m.3243A\>G | A3243G\-F444 | A3243G\-F444\-P2 | Uninf | F | Y | Y | ND | 24\.1; duration 4 | 34% | / | / | / | Young adult diabetes; Treatment Insulin; BMI 20\.8; Metabolic syndrome No; Maternal diabetes FH Yes; Maternal hearing FH No; Self\-reported hearing Yes; Audiogram Hearing defect | Case 2; Table 1 subject\-level mt3243A\>G heteroplasmy. Family histories are not individual A3243G molecular evidence. |
| 879 | 3243 | m.3243A\>G | A3243G\-F445 | A3243G\-F445\-P3 | Uninf | M | Y | Y | ND | 23\.0; duration 10 | 28% | / | / | / | Young adult diabetes; Treatment OGLA; BMI 20\.3; Metabolic syndrome No; Maternal diabetes FH Yes; Maternal hearing FH No; Family hearing FH Yes; Self\-reported hearing No; Audiogram Sub\-clinical hearing defect | Case 3; Table 1 subject\-level mt3243A\>G heteroplasmy. Family histories are not individual A3243G molecular evidence. |
| 880 | 3243 | m.3243A\>G | A3243G\-F446 | A3243G\-F446\-P4 | Uninf | M | Y | Y | ND | 32\.0; duration 5 | 13% | / | / | / | Young adult diabetes; Treatment OGLA; BMI 18\.5; Metabolic syndrome No; Maternal diabetes FH Yes; Maternal hearing FH No; Self\-reported hearing No; Audiogram Normal | Case 4; Table 1 subject\-level mt3243A\>G heteroplasmy. Family histories are not individual A3243G molecular evidence. |
| 881 | 3243 | m.3243A\>G | A3243G\-F447 | A3243G\-F447\-P5 | Uninf | F | Y | Y | ND | 21\.1; duration 18 | 13% | / | / | / | Young adult diabetes; Treatment Insulin; BMI 18\.6; Metabolic syndrome No; Maternal diabetes FH Yes; Maternal hearing FH No; Self\-reported hearing Yes; Audiogram Hearing defect | Case 5; Table 1 subject\-level mt3243A\>G heteroplasmy. Family histories are not individual A3243G molecular evidence. |
| 882 | 3243 | m.3243A\>G | A3243G\-F448 | A3243G\-F448\-P6 | Uninf | M | Y | Y | ND | 19\.0; duration 9 | 87% | / | / | / | Young adult diabetes; Treatment Insulin; BMI 17\.0; Metabolic syndrome No; Maternal diabetes FH No; Maternal hearing FH No; Self\-reported hearing No; Audiogram Sub\-clinical hearing defect | Case 6; Table 1 subject\-level mt3243A\>G heteroplasmy. Family histories are not individual A3243G molecular evidence. |
| 883 | 3243 | m.3243A\>G | A3243G\-F449 | A3243G\-F449\-P7 | Uninf | F | Y | Y | ND | 25\.0; duration 7 | 48% | / | / | / | Young adult diabetes; Treatment Insulin; BMI 15\.0; Metabolic syndrome No; Maternal diabetes FH No; Maternal hearing FH Yes; Self\-reported hearing Yes; Audiogram NA | Case 7; Table 1 subject\-level mt3243A\>G heteroplasmy. Family histories are not individual A3243G molecular evidence. |
| 884 | 3243 | m.3243A\>G | A3243G\-F450 | A3243G\-F450\-P8 | Uninf | F | Y | Y | ND | 27\.0; duration 3 | 32% | / | / | / | Young adult diabetes; Treatment OGLA; BMI 21\.0; Metabolic syndrome No; Maternal diabetes FH No; Maternal hearing FH No; Self\-reported hearing No; Audiogram Sub\-clinical hearing defect | Case 8; Table 1 subject\-level mt3243A\>G heteroplasmy. Family histories are not individual A3243G molecular evidence. |
| 885 | 3243 | m.3243A\>G | A3243G\-F451 | A3243G\-F451\-P9 | Uninf | M | Y | Y | ND | 29\.1; duration 5 | 44% | / | / | / | Young adult diabetes; Treatment OGLA; BMI 14\.7; Metabolic syndrome No; Maternal diabetes FH Yes; Maternal hearing FH Yes; Self\-reported hearing Yes; Audiogram Hearing defect | Case 9; Table 1 subject\-level mt3243A\>G heteroplasmy. Family histories are not individual A3243G molecular evidence. |
| 886 | 3243 | m.3243A\>G | A3243G\-F452 | A3243G\-F452\-P1 | Uninf | M | Y | Y | A | 34 | / | / | / | / | MIDD with diabetes, dilated cardiomyopathy, bilateral sensorineural hearing loss since age 17, visual loss/macular dystrophy, basal ganglia calcification | Peripheral blood leucocyte mtDNA analysis confirmed A3243G; heteroplasmy degree was not determined. Mother is insulin\-dependent diabetic but untested. |
| 887 | 3243 | m.3243A\>G | A3243G\-F453 | A3243G\-F453\-III3 | Fam | F | Y | Y | A | 46 | / | / | / | / | Proband; Maculopathy, hearing loss, diabetes | Figure 1 Family 1; Table 2\. |
| 888 | 3243 | m.3243A\>G | A3243G\-F453 | A3243G\-F453\-IV1 | Fam | M | N | N | A | 23 | / | / | / | / | Healthy | Figure 1 Family 1; Table 2; Son; positive, normal/no diabetes |
| 889 | 3243 | m.3243A\>G | A3243G\-F453 | A3243G\-F453\-IV2 | Fam | F | N | N | A | 19 | / | / | / | / | Healthy | Figure 1 Family 1; Table 2; Daughter; positive, normal/no diabetes |
| 890 | 3243 | m.3243A\>G | A3243G\-F454 | A3243G\-F454\-III11 | Fam | F | Y | Y | A | 54 | / | / | / | / | Macular dystrophy | Figure 1 Family 2; Table 2; Proband with; family phenotype |
| 891 | 3243 | m.3243A\>G | A3243G\-F454 | A3243G\-F454\-II4 | Fam | F | N | Y | A | 92 | / | / | / | / | Maculopathy | Figure 1 Family 2; Table 2; Maternal aunt; A3243G positive |
| 892 | 3243 | m.3243A\>G | A3243G\-F454 | A3243G\-F454\-III3 | Fam | ND | N | Y | A | 65 | / | / | / | / | Cousin; RPE mottling | Figure 1 Family 2; Table 2\. |
| 893 | 3243 | m.3243A\>G | A3243G\-F454 | A3243G\-F454\-III5 | Fam | ND | N | Y | A | 50 | / | / | / | / | Cousin; Normal fundus with objective hearing loss | Figure 1 Family 2; Table 2\. |
| 894 | 3243 | m.3243A\>G | A3243G\-F454 | A3243G\-F454\-III7 | Fam | F | N | Y | A | 59 | / | / | / | / | Sister; Maculopathy and objective hearing loss | Figure 1 Family 2; Table 2\. |
| 895 | 3243 | m.3243A\>G | A3243G\-F454 | A3243G\-F454\-III8 | Fam | M | N | Y | A | 58 | / | / | / | / | Brother; RPE/PPA, objective hearing loss, diabetes | Figure 1 Family 2; Table 2\. |
| 896 | 3243 | m.3243A\>G | A3243G\-F454 | A3243G\-F454\-III13 | Fam | F | N | Y | A | 56 | / | / | / | / | Sister; RPE mottling and objective hearing loss | Figure 1 Family 2; Table 2\. |
| 897 | 3243 | m.3243A\>G | A3243G\-F454 | A3243G\-F454\-IV4 | Fam | M | N | Y | A | 36 | / | / | / | / | Nephew; RPE mottling and objective hearing loss | Figure 1 Family 2; Table 2\. |
| 898 | 3243 | m.3243A\>G | A3243G\-F454 | A3243G\-F454\-IV8 | Fam | M | N | Y | A | 34 | / | / | / | / | Son; PPA/normal fundus and objective hearing loss | Figure 1 Family 2; Table 2\. |
| 899 | 3243 | m.3243A\>G | A3243G\-F454 | A3243G\-F454\-IV10 | Fam | M | N | Y | A | 25 | / | / | / | / | Son; RPE mottling and objective hearing loss | Figure 1 Family 2; Table 2\. |
| 900 | 3243 | m.3243A\>G | A3243G\-F454 | A3243G\-F454\-IV11 | Fam | F | N | Y | A | 34 | / | / | / | / | Niece; Drusen and objective low\-frequency hearing loss | Figure 1 Family 2; Table 2\. |
| 901 | 3243 | m.3243A\>G | A3243G\-F454 | A3243G\-F454\-IV12 | Fam | M | N | Y | A | 32 | / | / | / | / | Nephew; RPE mottling and objective hearing loss | Figure 1 Family 2; Table 2\. |
| 902 | 3243 | m.3243A\>G | A3243G\-F455 | A3243G\-F455\-III3 | Fam | F | Y | Y | A | 73 | / | / | / | / | Proband; Maculopathy | Figure 1 Family 3; Table 2\. |
| 903 | 3243 | m.3243A\>G | A3243G\-F455 | A3243G\-F455\-IV1 | Fam | F | N | Y | A | 48 | / | / | / | / | Daughter; Maculopathy | Figure 1 Family 3; Table 2\. |
| 904 | 3243 | m.3243A\>G | A3243G\-F456 | A3243G\-F456\-III1 | Fam | M | Y | Y | A | 66 | / | / | / | / | Proband; Maculopathy and hearing loss | Figure 1 Family 4; Table 2\. |
| 905 | 3243 | m.3243A\>G | A3243G\-F457 | A3243G\-F457\-IV4 | Fam | F | Y | Y | A | 52 | / | / | / | / | Proband; Maculopathy and objective hearing loss | Figure 1 Family 5; Table 2\. |
| 906 | 3243 | m.3243A\>G | A3243G\-F457 | A3243G\-F457\-IV1 | Fam | M | N | Y | A | 59 | / | / | / | / | Brother; RPE mottling and objective hearing loss | Figure 1 Family 5; Table 2\. |
| 907 | 3243 | m.3243A\>G | A3243G\-F457 | A3243G\-F457\-IV6 | Fam | M | N | Y | A | 45 | / | / | / | / | Brother; RPE mottling and objective hearing loss | Figure 1 Family 5; Table 2\. |
| 908 | 3243 | m.3243A\>G | A3243G\-F457 | A3243G\-F457\-V3 | Fam | M | N | Y | A | 23 | / | / | / | / | Son; Single drusen, normal hearing and no diabetes | Figure 1 Family 5; Table 2\. |
| 909 | 3243 | m.3243A\>G | A3243G\-F458 | A3243G\-F458\-III7 | Fam | F | Y | Y | A | 48 | / | / | / | / | Proband; Maculopathy and objective hearing loss | Figure 1 Family 6; Table 2\. |
| 910 | 3243 | m.3243A\>G | A3243G\-F458 | A3243G\-F458\-III4 | Fam | F | N | Y | A | 52 | / | / | / | / | Sister; RPE mottling and diabetes | Figure 1 Family 6; Table 2\. |
| 911 | 3243 | m.3243A\>G | A3243G\-F458 | A3243G\-F458\-III8 | Fam | F | N | Y | A | 43 | / | / | / | / | Sister; RPE mottling, objective hearing loss and diabetes | Figure 1 Family 6; Table 2\. |
| 912 | 3243 | m.3243A\>G | A3243G\-F459 | A3243G\-F459\-III2 | Fam | F | Y | Y | A | 55 | / | / | / | / | Proband; Maculopathy, objective hearing loss and diabetes | Figure 1 Family 7; Table 2\. |
| 913 | 3243 | m.3243A\>G | A3243G\-F459 | A3243G\-F459\-IV1 | Fam | M | N | Y | A | 29 | / | / | / | / | Son; Objective hearing loss and impaired fasting glucose | Figure 1 Family 7; Table 2\. |
| 914 | 3243 | m.3243A\>G | A3243G\-F459 | A3243G\-F459\-IV2 | Fam | F | N | N | A | 30 | / | / | / | / | Healthy | Figure 1 Family 7; Table 2; Daughter; normal/no diabetes |
| 915 | 3243 | m.3243A\>G | A3243G\-F460 | A3243G\-F460\-P1 | Fam | F | Y | Y | D | 32 death | / | 93%; 72% | / | 98%(GI region); 96%(GI region); 97%(GI region); 99%(GI region); 99%(GI region) | MELAS with stroke\-like episodes, encephalopathy, myopathy, lactic acidosis, long\-standing digestive problems and severe constipation | Patient 1; figure gives detailed m.3243A\>G loads in GI regions and skeletal muscle fibers. |
| 916 | 3243 | m.3243A\>G | A3243G\-F460 | A3243G\-F460\-P2 | Fam | F | Y | Y | D | 43 onset; 59 death | / | / | / | Homo(Smooth muscle) | Migraine at 43, cognitive decline, cardiac failure, deafness and progressive severe constipation; No stroke\-like episodes or seizures | Patient 2 maternal aunt of Patient 1; main text states near\-homoplasmic m.3243A\>G in GI smooth muscle |
| 917 | 3243 | m.3243A\>G | A3243G\-F461 | A3243G\-F461\-P1 | Uninf | F | Y | Y | ND | 48 | / | / | / | / | Macular dystrophy; Initial diagnosis Usher; Visual symptoms No; Diabetes Yes; Hearing loss Yes | Diagnosis established with peripheral blood DNA testing; exact heteroplasmy percent not reported; A3243G |
| 918 | 3243 | m.3243A\>G | A3243G\-F462 | A3243G\-F462\-P2 | Uninf | F | Y | Y | ND | 42 | / | / | / | / | Macular dystrophy; Central areolar choroidal sclerosis; Visual symptoms Yes; Diabetes No; Hearing loss No | Diagnosis established with peripheral blood DNA testing; exact heteroplasmy percent not reported; A3243G |
| 919 | 3243 | m.3243A\>G | A3243G\-F463 | A3243G\-F463\-P3 | Fam | F | Y | Y | ND | 53 | / | / | / | / | Macular dystrophy; Non\-specific maculopathy; Visual symptoms Yes; Diabetes No; Hearing loss Yes | Patient 3 and Patient 4 are a mother/daughter pair; exact heteroplasmy percent not reported; A3243G; maternal family history hearing loss Yes |
| 920 | 3243 | m.3243A\>G | A3243G\-F463 | A3243G\-F463\-P4 | Fam | F | Y | Y | ND | 47 | / | / | / | / | Macular dystrophy; Non\-specific maculopathy; Visual symptoms Yes; Diabetes No; Hearing loss Yes | Patient 3 and Patient 4 are a mother/daughter pair; exact heteroplasmy percent not reported; A3243G; maternal family history hearing loss Yes |
| 921 | 3243 | m.3243A\>G | A3243G\-F464 | A3243G\-F464\-P5 | Uninf | F | Y | Y | ND | 36 | / | / | / | / | Macular dystrophy; Non\-specific maculopathy; Visual symptoms Yes; Diabetes No; Hearing loss Yes | Diagnosis established with peripheral blood DNA testing; exact heteroplasmy percent not reported; A3243G; maternal family history diabetes Yes |
| 922 | 3243 | m.3243A\>G | A3243G\-F465 | A3243G\-F465\-P6 | Uninf | M | Y | Y | ND | 65 | / | / | / | / | Macular dystrophy; Non\-specific maculopathy; Visual symptoms Yes; Diabetes No; Hearing loss Yes | Diagnosis established with peripheral blood DNA testing; exact heteroplasmy percent not reported; A3243G |
| 923 | 3243 | m.3243A\>G | A3243G\-F466 | A3243G\-F466\-P7 | Uninf | F | Y | Y | ND | 43 | / | / | / | / | Macular dystrophy; Pattern dystrophy; Visual symptoms No; Diabetes No; Hearing loss Yes | Diagnosis established with peripheral blood DNA testing; exact heteroplasmy percent not reported; A3243G; maternal family history unknown |
| 924 | 3243 | m.3243A\>G | A3243G\-F467 | A3243G\-F467\-P8 | Uninf | M | Y | Y | ND | 43 | / | / | / | / | Macular dystrophy; Macular degeneration; Visual symptoms Yes; Diabetes Yes; Hearing loss Yes | Diagnosis established with peripheral blood DNA testing; exact heteroplasmy percent not reported; A3243G |
| 925 | 3243 | m.3243A\>G | A3243G\-F468 | A3243G\-F468\-P9 | Uninf | F | Y | Y | ND | 38 | / | / | / | / | Macular dystrophy; Non\-specific maculopathy; Visual symptoms Yes; Diabetes No; Hearing loss Yes | Diagnosis established with peripheral blood DNA testing; exact heteroplasmy percent not reported; A3243G |
| 926 | 3243 | m.3243A\>G | A3243G\-F469 | A3243G\-F469\-P10 | Uninf | F | Y | Y | ND | 55 | / | / | / | / | Macular dystrophy; Stargardt versus mitochondrial; Visual symptoms No; Diabetes No; Hearing loss Yes | Diagnosis established with peripheral blood DNA testing; exact heteroplasmy percent not reported; A3243G; maternal family history hearing loss Yes |
| 927 | 3243 | m.3243A\>G | A3243G\-F470 | A3243G\-F470\-P11 | Uninf | F | Y | Y | ND | 48 | / | / | / | / | Macular dystrophy; Macular atrophy; Visual symptoms No; Diabetes Yes; Hearing loss No | Diagnosis established with peripheral blood DNA testing; exact heteroplasmy percent not reported; A3243G; maternal family history diabetes and hearing loss Yes |
| 928 | 3243 | m.3243A\>G | A3243G\-F471 | A3243G\-F471\-P12 | Uninf | M | Y | Y | ND | 46 | / | / | / | / | Macular dystrophy; Non\-specific maculopathy; Visual symptoms No; Diabetes Yes; Hearing loss Yes | Diagnosis established with peripheral blood DNA testing; exact heteroplasmy percent not reported; A3243G; maternal family history hearing loss Yes |
| 929 | 3243 | m.3243A\>G | A3243G\-F472 | A3243G\-F472\-P1 | Fam | F | Y | N | A | 29 | 1% | 41% | 18% | / | Healthy | Case patient; m.3243A\>G loads reported in muscle, urinary epithelium and blood cells; Known m.3243A\>G carrier; asymptomatic before pregnancy; pre\-eclampsia and magnesium toxicity with therapeutic plasma magnesium level |
| 930 | 3243 | m.3243A\>G | A3243G\-F472 | A3243G\-F472\-P2 | Fam | M | N | N | A | newborn | 0 | / | / | 0%(Fetalcells) | Healthy | Eligible negative\-tested child of target\-positive mother; fetal cells at amniocentesis and cord blood at delivery showed no detectable m.3243A\>G. Negative result is tissue/sample\-specific; Live male child; no mitochondrial phenotype reported at delivery |
| 931 | 3243 | m.3243A\>G | A3243G\-F473 | A3243G\-F473\-P1 | Fam | F | N | Y | D | 72 | 15% | 75% | / | 89%(ND); 87%(ND); 80%(ND); 80%(ND); 78%(ND); 75%(ND); 25%(ND) | Diabetes from age 60, hearing loss from age 45, intermittent hyperkalemia with heart failure, renal tubulointerstitial changes; Autopsy case | Case 1 mother of Cases 2 and 3; earlier blood sample was reportedly negative, but Table 2 reports blood 15% and multiple autopsy tissue loads. |
| 932 | 3243 | m.3243A\>G | A3243G\-F473 | A3243G\-F473\-P2 | Fam | M | Y | Y | A | 32 | 35% | / | / | 86%(ND) | Hearing loss since age 13, diabetes/hyperglycemia, persistent hyperkalemia, hyporeninemic hypoaldosteronism, renal disease requiring hemodialysis, fundus bleeding | Case 2 second son; blood and kidney tissue tested for A3243G. |
| 933 | 3243 | m.3243A\>G | A3243G\-F473 | A3243G\-F473\-P3 | Fam | M | N | Y | A | 35 | 15% | / | / | / | Diabetes and mild hearing loss detected at age 29; Renal function slowly deteriorating | Case 3 older son; blood tested for A3243G. |
| 934 | 3243 | m.3243A\>G | A3243G\-F474 | A3243G\-F474\-P1 | Fam | F | Y | Y | A | 33 | 31\-55% | / | / | / | MIDD; Progressive severe\-to\-profound symmetrical bilateral sensorineural hearing loss; Type 2 diabetes at 23; Cochlear implant assessment at 35 | Peripheral blood leucocyte DNA analysis identified m.3243A\>G; heteroplasmy reported as intermediate 31\-55%. Mother had similar clinical history but no molecular testing reported. |
| 935 | 3243 | m.3243A\>G | A3243G\-F475 | A3243G\-F475\-P1 | Fam | F | Y | Y | A | 47 | / | / | / | / | MIDD; Diabetes onset at 11 years; Progressive bilateral sensorineural hearing loss from age 27; Proliferative diabetic retinopathy; End\-stage renal failure on hemodialysis; Sensory and motor polyneuropathy; Chronic intestinal pseudo\-obstruction | Patient/proband; PCR/ApaI analysis detected heteroplasmic A3243G but no percentage is reported. |
| 936 | 3243 | m.3243A\>G | A3243G\-F475 | A3243G\-F475\-P2 | Fam | F | N | ND | ND | ND | / | / | / | / | ND | Fig. 1 \+ sister; tissue/source beyond peripheral blood leukocyte molecular method is not separately specified; Diabetes mellitus and hearing impairment in the family pedigree; A3243G\-positive available sister |
| 937 | 3243 | m.3243A\>G | A3243G\-F475 | A3243G\-F475\-P3 | Fam | M | N | ND | ND | ND | / | / | / | / | ND | Fig. 1 \+ nephew; tissue/source beyond peripheral blood leukocyte molecular method is not separately specified; Diabetes mellitus and hearing impairment in the family pedigree; A3243G\-positive nephew |
| 938 | 3243 | m.3243A\>G | A3243G\-F476 | A3243G\-F476\-P1 | Uninf | ND | ND | Y | ND | 33 | 2% | 4% | 4% | / | M.3243A\>G mitochondrial disease; NMDAS clinical score 3; Individual clinical features not specified | PDF Table: blood, muscle, and urinary epithelium heteroplasmy; no pedigree/family relationship reported. |
| 939 | 3243 | m.3243A\>G | A3243G\-F477 | A3243G\-F477\-P2 | Uninf | ND | ND | Y | ND | 45 | 1% | 11% | 8% | / | M.3243A\>G mitochondrial disease; NMDAS clinical score 7; Individual clinical features not specified | PDF Table: blood, muscle, and urinary epithelium heteroplasmy; no pedigree/family relationship reported. |
| 940 | 3243 | m.3243A\>G | A3243G\-F478 | A3243G\-F478\-P3 | Uninf | ND | ND | Y | ND | 78 | / | 29% | 30% | / | M.3243A\>G mitochondrial disease; NMDAS clinical score 25; Individual clinical features not specified | PDF Table: blood, muscle, and urinary epithelium heteroplasmy; no pedigree/family relationship reported. |
| 941 | 3243 | m.3243A\>G | A3243G\-F479 | A3243G\-F479\-P4 | Uninf | ND | ND | Y | ND | 45 | 16% | 32% | 91% | / | M.3243A\>G mitochondrial disease; NMDAS clinical score 39; Individual clinical features not specified | PDF Table: blood, muscle, and urinary epithelium heteroplasmy; no pedigree/family relationship reported. |
| 942 | 3243 | m.3243A\>G | A3243G\-F480 | A3243G\-F480\-P5 | Uninf | ND | ND | Y | ND | 33 | 14% | 35% | 14% | / | M.3243A\>G mitochondrial disease; NMDAS clinical score 27; Individual clinical features not specified | PDF Table: blood, muscle, and urinary epithelium heteroplasmy; no pedigree/family relationship reported. |
| 943 | 3243 | m.3243A\>G | A3243G\-F481 | A3243G\-F481\-P6 | Uninf | ND | ND | Y | ND | 60 | 6% | 39% | 55% | / | M.3243A\>G mitochondrial disease; NMDAS clinical score 52; Individual clinical features not specified | PDF Table: blood, muscle, and urinary epithelium heteroplasmy; no pedigree/family relationship reported. |
| 944 | 3243 | m.3243A\>G | A3243G\-F482 | A3243G\-F482\-P7 | Uninf | ND | ND | Y | ND | 32 | 1% | 41% | 18% | / | M.3243A\>G mitochondrial disease; NMDAS clinical score 4; Individual clinical features not specified | PDF Table: blood, muscle, and urinary epithelium heteroplasmy; no pedigree/family relationship reported. |
| 945 | 3243 | m.3243A\>G | A3243G\-F483 | A3243G\-F483\-P8 | Uninf | ND | ND | Y | ND | 35 | 8% | 47% | 22% | / | M.3243A\>G mitochondrial disease; NMDAS clinical score 3; Individual clinical features not specified | PDF Table: blood, muscle, and urinary epithelium heteroplasmy; no pedigree/family relationship reported. |
| 946 | 3243 | m.3243A\>G | A3243G\-F484 | A3243G\-F484\-P9 | Uninf | ND | ND | Y | ND | 38 | 8% | 50% | 54% | / | M.3243A\>G mitochondrial disease; NMDAS clinical score 21; Individual clinical features not specified | PDF Table: blood, muscle, and urinary epithelium heteroplasmy; no pedigree/family relationship reported. |
| 947 | 3243 | m.3243A\>G | A3243G\-F485 | A3243G\-F485\-P10 | Uninf | ND | ND | Y | ND | 54 | 14% | 52% | 51% | / | M.3243A\>G mitochondrial disease; NMDAS clinical score 4; Individual clinical features not specified | PDF Table: blood, muscle, and urinary epithelium heteroplasmy; no pedigree/family relationship reported. |
| 948 | 3243 | m.3243A\>G | A3243G\-F486 | A3243G\-F486\-P11 | Uninf | ND | ND | Y | ND | 47 | 2% | 53% | 54% | / | M.3243A\>G mitochondrial disease; NMDAS clinical score 29; Individual clinical features not specified | PDF Table: blood, muscle, and urinary epithelium heteroplasmy; no pedigree/family relationship reported. |
| 949 | 3243 | m.3243A\>G | A3243G\-F487 | A3243G\-F487\-P12 | Uninf | ND | ND | Y | ND | 36 | 14% | 56% | 72% | / | M.3243A\>G mitochondrial disease; NMDAS clinical score 1; Individual clinical features not specified | PDF Table: blood, muscle, and urinary epithelium heteroplasmy; no pedigree/family relationship reported. |
| 950 | 3243 | m.3243A\>G | A3243G\-F488 | A3243G\-F488\-P13 | Uninf | ND | ND | Y | ND | 38 | 16% | 58% | 55% | / | M.3243A\>G mitochondrial disease; NMDAS clinical score 6; Individual clinical features not specified | PDF Table: blood, muscle, and urinary epithelium heteroplasmy; no pedigree/family relationship reported. |
| 951 | 3243 | m.3243A\>G | A3243G\-F489 | A3243G\-F489\-P14 | Uninf | ND | ND | Y | ND | 58 | 24% | 66% | 52% | / | M.3243A\>G mitochondrial disease; NMDAS clinical score 32; Individual clinical features not specified | PDF Table: blood, muscle, and urinary epithelium heteroplasmy; no pedigree/family relationship reported. |
| 952 | 3243 | m.3243A\>G | A3243G\-F490 | A3243G\-F490\-P15 | Uninf | ND | ND | Y | ND | 31 | 16% | 66% | 57% | / | M.3243A\>G mitochondrial disease; NMDAS clinical score 16; Individual clinical features not specified | PDF Table: blood, muscle, and urinary epithelium heteroplasmy; no pedigree/family relationship reported. |
| 953 | 3243 | m.3243A\>G | A3243G\-F491 | A3243G\-F491\-P16 | Uninf | ND | ND | Y | ND | 58 | / | 67% | 60% | / | M.3243A\>G mitochondrial disease; NMDAS clinical score 43; Individual clinical features not specified | PDF Table: blood, muscle, and urinary epithelium heteroplasmy; no pedigree/family relationship reported. |
| 954 | 3243 | m.3243A\>G | A3243G\-F492 | A3243G\-F492\-P17 | Uninf | ND | ND | Y | ND | 30 | 15% | 67% | 62% | / | M.3243A\>G mitochondrial disease; NMDAS clinical score 1; Individual clinical features not specified | PDF Table: blood, muscle, and urinary epithelium heteroplasmy; no pedigree/family relationship reported. |
| 955 | 3243 | m.3243A\>G | A3243G\-F493 | A3243G\-F493\-P18 | Uninf | ND | ND | Y | ND | 30 | 71% | 71% | 96% | / | M.3243A\>G mitochondrial disease; NMDAS clinical score 50; Individual clinical features not specified | PDF Table: blood, muscle, and urinary epithelium heteroplasmy; no pedigree/family relationship reported. |
| 956 | 3243 | m.3243A\>G | A3243G\-F494 | A3243G\-F494\-P19 | Uninf | ND | ND | Y | ND | 27 | 36% | 71% | 52% | / | M.3243A\>G mitochondrial disease; NMDAS clinical score 5; Individual clinical features not specified | PDF Table: blood, muscle, and urinary epithelium heteroplasmy; no pedigree/family relationship reported. |
| 957 | 3243 | m.3243A\>G | A3243G\-F495 | A3243G\-F495\-P20 | Uninf | ND | ND | Y | ND | 30 | / | 71% | 96% | / | M.3243A\>G mitochondrial disease; NMDAS clinical score 32; Individual clinical features not specified | PDF Table: blood, muscle, and urinary epithelium heteroplasmy; no pedigree/family relationship reported. |
| 958 | 3243 | m.3243A\>G | A3243G\-F496 | A3243G\-F496\-P21 | Uninf | ND | ND | Y | ND | 63 | 18% | 76% | 49% | / | M.3243A\>G mitochondrial disease; NMDAS clinical score 18; Individual clinical features not specified | PDF Table: blood, muscle, and urinary epithelium heteroplasmy; no pedigree/family relationship reported. |
| 959 | 3243 | m.3243A\>G | A3243G\-F497 | A3243G\-F497\-P22 | Uninf | ND | ND | Y | ND | 41 | 13% | 81% | 82% | / | M.3243A\>G mitochondrial disease; NMDAS clinical score 84; Individual clinical features not specified | PDF Table: blood, muscle, and urinary epithelium heteroplasmy; no pedigree/family relationship reported. |
| 960 | 3243 | m.3243A\>G | A3243G\-F498 | A3243G\-F498\-P23 | Uninf | ND | ND | Y | ND | 50 | 22% | 87% | 74% | / | M.3243A\>G mitochondrial disease; NMDAS clinical score 20; Individual clinical features not specified | PDF Table: blood, muscle, and urinary epithelium heteroplasmy; no pedigree/family relationship reported. |
| 961 | 3243 | m.3243A\>G | A3243G\-F499 | A3243G\-F499\-P24 | Uninf | ND | ND | Y | ND | 29 | 35% | 87% | 80% | / | M.3243A\>G mitochondrial disease; NMDAS clinical score 23; Individual clinical features not specified | PDF Table: blood, muscle, and urinary epithelium heteroplasmy; no pedigree/family relationship reported. |
| 962 | 3243 | m.3243A\>G | A3243G\-F500 | A3243G\-F500\-P4 | Uninf | F | ND | Y | ND | 40 | / | 76% | / | / | Exercise intolerance; Hearing impairment; Glucose intolerance; Encephalopathy | Table patient 4: F/40; 3243 A\>G; muscle mutation load 76%; symptoms EI, HI, GI, Enc. |
| 963 | 3243 | m.3243A\>G | A3243G\-F501 | A3243G\-F501\-P5 | Uninf | F | ND | Y | ND | 40 | / | 85% | / | / | Exercise intolerance; Short stature; Hearing impairment; Diabetes; Encephalopathy | Table patient 5: F/40; 3243 A\>G; muscle mutation load 85%; symptoms EI, SS, HI, DM, Enc. |
| 964 | 3243 | m.3243A\>G | A3243G\-F502 | A3243G\-F502\-P6 | Uninf | F | ND | Y | ND | 42 | / | 86% | / | / | Exercise intolerance; Hearing impairment; Diabetes; Encephalopathy | Table patient 6: F/42; 3243 A\>G; muscle mutation load 86%; symptoms EI, HI, DM, Enc. |
| 965 | 3243 | m.3243A\>G | A3243G\-F503 | A3243G\-F503\-P7 | Uninf | M | ND | Y | ND | 34 | / | 75% | / | / | Exercise intolerance; Short stature; Hearing impairment; Diabetes; Encephalopathy | Table patient 7: M/34; 3243 A\>G; muscle mutation load 75%; symptoms EI, SS, HI, DM, Enc. |
| 966 | 3243 | m.3243A\>G | A3243G\-F504 | A3243G\-F504\-II1 | Fam | M | N | Y | ND | ND | / | / | / | / | Diabetes, stroke, hypertension, renal insufficiency and hearing loss reported for the two younger brothers as a group | Same mtDNA mutation detected in blood of the proband's two brothers; Affected brother in Fig.1A |
| 967 | 3243 | m.3243A\>G | A3243G\-F504 | A3243G\-F504\-II2 | Fam | M | Y | Y | A | 68 | / | 50% | / | / | Late\-onset MELAS with transient stroke\-like episodes, diabetes, progressive sensorineural hearing loss, polyneuropathy, proximal myopathy, ataxia and elevated lactate | Vastus lateralis muscle A3243G estimated 50% heteroplasmy. |
| 968 | 3243 | m.3243A\>G | A3243G\-F504 | A3243G\-F504\-II4 | Fam | M | N | Y | ND | ND | / | / | / | / | Diabetes, stroke, hypertension, renal insufficiency and hearing loss reported for the two younger brothers as a group | Same mtDNA mutation detected in blood of the proband's two brothers; Affected brother in Fig.1A |
| 969 | 3243 | m.3243A\>G | A3243G\-F505 | A3243G\-F505\-P1 | Fam | F | Y | Y | A | 50 | 0 | 0 | 15% | 0%(H) | Mild myalgia; Exercise intolerance; Very minor proximal upper\-limb weakness; Nonspecific myositis; Approximately 4% COX\-negative fibers | m.3243A\>G detected only in urine by PCR\-RFLP with about 15% heteroplasmy and confirmed by sequencing; blood, skeletal muscle and hair follicle samples were not detected, but those 0 results are tissue\-specific; family history of MELAS |
| 970 | 3243 | m.3243A\>G | A3243G\-F506 | A3243G\-F506\-P1 | Fam | M | Y | Y | A | 19 | 20% | 40% | / | / | MELAS with occipital seizures since age 10, status epilepticus, severe headaches, visual hallucinations, and transient right occipital stroke\-like lesion | PCR fragment\-length polymorphism analysis identified heteroplasmic A3243G in muscle and peripheral blood lymphocytes. |
| 971 | 3243 | m.3243A\>G | A3243G\-F506 | A3243G\-F506\-P2 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | Mother harbored the same A3243G mutation as the patient; exact tissue and heteroplasmy load not reported; Clinically free/asymptomatic; vastus lateralis muscle biopsy normal |
| 972 | 3243 | m.3243A\>G | A3243G\-F506 | A3243G\-F506\-P3 | Fam | M | N | Y | A | 5 (onset) | / | / | / | / | Partial occipital epilepsy from age 5 and mild language delay | Brother harbored the same A3243G mutation as the patient; exact tissue and heteroplasmy load not reported. |
| 973 | 3243 | m.3243A\>G | A3243G\-F507 | A3243G\-F507\-P1 | Fam | M | Y | Y | A | 59 | 15% | / | 76% | 75%(Myocardium) | Maternally inherited diabetes and deafness phenotype; Sensorineural deafness; Congestive heart failure/cardiomyopathy; Renal disease | A3243G was identified and quantified in blood, urine and myocardium; mother had diabetes and deafness but was not molecularly tested. |
| 974 | 3243 | m.3243A\>G | A3243G\-F508 | A3243G\-F508\-P1 | Uninf | M | Y | Y | A | 42 | 16% | / | / | / | Hearing loss; Diabetes; Renal dysfunction not reported | Table 4 A3243G patient; onset age used where evaluation age unavailable; family history negative |
| 975 | 3243 | m.3243A\>G | A3243G\-F509 | A3243G\-F509\-P1 | Uninf | F | Y | Y | A | 25 | 26% | / | / | / | Hearing loss; No diabetes; No renal dysfunction | Table 4 A3243G patient; onset age used where evaluation age unavailable; family history negative |
| 976 | 3243 | m.3243A\>G | A3243G\-F510 | A3243G\-F510\-P1 | Uninf | M | Y | Y | A | ND | 24% | / | / | / | Hearing loss; Renal dysfunction; No diabetes | Table 4 A3243G patient; onset age unknown; family history positive but no relatives are individually described; positive family history |
| 977 | 3243 | m.3243A\>G | A3243G\-F511 | A3243G\-F511\-P1 | Uninf | F | Y | Y | A | childhood | 8\.6% | / | / | / | Hearing loss; Diabetes; No renal dysfunction | Table 4 A3243G patient; onset age used where evaluation age unavailable; positive family history |
| 978 | 3243 | m.3243A\>G | A3243G\-F512 | A3243G\-F512\-P1 | Uninf | F | Y | Y | A | 10 | 25% | / | / | / | Hearing loss; Diabetes; No renal dysfunction | Table 4 A3243G patient; onset age used where evaluation age unavailable; positive family history |
| 979 | 3243 | m.3243A\>G | A3243G\-F513 | A3243G\-F513\-P1 | Uninf | F | Y | Y | A | 40 | 17% | / | / | / | Hearing loss; No diabetes; No renal dysfunction | Table 4 A3243G patient; onset age used where evaluation age unavailable; family history negative |
| 980 | 3243 | m.3243A\>G | A3243G\-F514 | A3243G\-F514\-P1 | Uninf | F | Y | Y | A | 27 | 23% | / | / | / | Hearing loss; Diabetes; No renal dysfunction | Table 4 A3243G patient; onset age used where evaluation age unavailable; family history negative |
| 981 | 3243 | m.3243A\>G | A3243G\-F515 | A3243G\-F515\-P1 | Uninf | M | Y | Y | A | 25 | 43% | / | / | / | Hearing loss; No diabetes; No renal dysfunction | Table 4 A3243G patient; onset age used where evaluation age unavailable; family history negative |
| 982 | 3243 | m.3243A\>G | A3243G\-F516 | A3243G\-F516\-P1 | Uninf | F | Y | Y | A | 31 | 46% | / | / | / | Hearing loss; Renal dysfunction; No diabetes | Table 4 A3243G patient; onset age used where evaluation age unavailable; family history positive but no relatives are individually described; positive family history |
| 983 | 3243 | m.3243A\>G | A3243G\-F517 | A3243G\-F517\-P1 | Uninf | ND | Y | Y | ND | 39 onset | / | / | / | / | CPEO; Ptosis/extraocular muscle restriction; Mild myopathy and fatigue; Cerebellar dysfunction; Deafness | Original subject Patient 13; single\-fiber EOM/SKM m.3243A\>G loads were reported for COX\-positive/deficient fibers; no bulk tissue heteroplasmy reported. |
| 984 | 3243 | m.3243A\>G | A3243G\-F518 | A3243G\-F518\-P1 | Uninf | M | Y | Y | D | 57 | / | / | / | / | MELAS; Bilateral sensorineural deafness; Diabetes; Nephrotic syndrome/chronic renal insufficiency and renal transplant; Cardiomyopathy/heart failure; Stroke\-like episode; Dementia; Ventricular arrhythmia | A\-to\-G transition at nucleotide 3243 in MT\-TL1 was found in leukocytes and skeletal muscle; patient died in December 2009\. |
| 985 | 3243 | m.3243A\>G | A3243G\-F519 | A3243G\-F519\-II1 | Fam | F | N | N | ND | 51 | / | / | / | / | Healthy | Asymptomatic mother |
| 986 | 3243 | m.3243A\>G | A3243G\-F519 | A3243G\-F519\-II2 | Fam | F | N | Y | D | 46 | / | / | / | / | MERRF/MELAS; Died of renal and heart failure | / |
| 987 | 3243 | m.3243A\>G | A3243G\-F519 | A3243G\-F519\-III1 | Fam | F | Y | Y | ND | 23 | / | / | / | / | MERRF/MELAS overlap | / |
| 988 | 3243 | m.3243A\>G | A3243G\-F519 | A3243G\-F519\-III6 | Fam | F | N | Y | ND | 21 | / | / | / | / | MERRF phenotype | / |
| 989 | 3243 | m.3243A\>G | A3243G\-F520 | A3243G\-F520\-P1 | Fam | F | Y | Y | D | 5 yr 1 mo; autopsy 13 yr 6 mo | / | / | / | / | MELAS; Fatigability, transient inability to walk with febrile illness, elevated lactate/pyruvate, ragged\-red fibers, COX low activity, stroke\-like episode, endothelial tight\-junction disruption | A3243G confirmed in biopsied quadriceps muscle; load not reported. |
| 990 | 3243 | m.3243A\>G | A3243G\-F520 | A3243G\-F520\-P2 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | Mother proved to have asymptomatic mtDNA A3243G mutation; tissue and load not reported; Healthy |
| 991 | 3243 | m.3243A\>G | A3243G\-F521 | A3243G\-F521\-P1 | Uninf | F | Y | Y | A | 41 | 5\.6% | / | 41\.1% | / | MIDD; Asymmetric/myogenic ptosis; Macular reticular pattern dystrophy; Cone\-rod dystrophy; Later fatigue and worsening vision/hearing; No diabetes reported | Case 1; mother has clinical features but no molecular testing and is not counted under updated G/H eligibility. |
| 992 | 3243 | m.3243A\>G | A3243G\-F522 | A3243G\-F522\-P1 | Uninf | F | Y | Y | A | 47 | 19\.0% | / | 49\.0% | / | MIDD; Pigmentary/macular pattern dystrophy; Glucose intolerance progressing to diabetes; Sensorineural hearing loss; Bilateral ptosis; Mild proximal lower\-limb weakness | Case 2; mother and sister have ambiguous clinical\-only history and no molecular testing. |
| 993 | 3243 | m.3243A\>G | A3243G\-F523 | A3243G\-F523\-P1 | Uninf | F | ND | ND | ND | ND | 20% | / | 65% | 30%(BM) | ND | Carrier woman P1; Table 1 WBC/OMC/UTC mutant loads; A3243G carrier applying for PND/PGD; clinical phenotype not specified |
| 994 | 3243 | m.3243A\>G | A3243G\-F524 | A3243G\-F524\-P2 | Uninf | F | ND | ND | ND | ND | 20% | / | 30% | 27%(BM) | ND | Carrier woman P2; Table 1 WBC/OMC/UTC mutant loads; A3243G carrier applying for PND/PGD; clinical phenotype not specified |
| 995 | 3243 | m.3243A\>G | A3243G\-F525 | A3243G\-F525\-P3 | Uninf | F | ND | ND | ND | ND | 20% | / | 50% | 40%(BM) | ND | Carrier woman P3; Table 1 WBC/OMC/UTC mutant loads; A3243G carrier applying for PND/PGD; clinical phenotype not specified |
| 996 | 3243 | m.3243A\>G | A3243G\-F526 | A3243G\-F526\-P4 | Uninf | F | ND | ND | ND | ND | 7% | / | 15% | 8%(BM) | ND | Carrier woman P4; Table 1 WBC/OMC/UTC mutant loads; A3243G carrier applying for PND/PGD; clinical phenotype not specified |
| 997 | 3243 | m.3243A\>G | A3243G\-F527 | A3243G\-F527\-P5 | Uninf | F | ND | ND | ND | ND | 5% | / | 35% | 10%(BM) | ND | Carrier woman P5; Table 1 WBC/OMC/UTC mutant loads; A3243G carrier applying for PND/PGD; clinical phenotype not specified |
| 998 | 3243 | m.3243A\>G | A3243G\-F528 | A3243G\-F528\-P6 | Uninf | F | ND | ND | ND | ND | 30% | / | 80% | 50%(BM) | ND | Carrier woman P6; Table 1 WBC/OMC/UTC mutant loads; A3243G carrier applying for PND/PGD; clinical phenotype not specified |
| 999 | 3243 | m.3243A\>G | A3243G\-F529 | A3243G\-F529\-P7 | Uninf | F | ND | ND | ND | ND | 30% | / | 70% | / | ND | Carrier woman P7; Table 1 reports WBC and UTC; OMC not reported in extracted table; A3243G carrier applying for PND/PGD; clinical phenotype not specified |
| 1000 | 3243 | m.3243A\>G | A3243G\-F530 | A3243G\-F530\-P8 | Uninf | F | ND | ND | ND | ND | 40% | / | 55% | / | ND | Carrier woman P8; Table 1 reports WBC and UTC; OMC not reported in extracted table; A3243G carrier applying for PND/PGD; clinical phenotype not specified |
| 1001 | 3243 | m.3243A\>G | A3243G\-F531 | A3243G\-F531\-P1 | Fam | ND | Y | Y | ND | ND | / | 60% | / | / | MELAS; Complex I deficiency | Table 1 MTTL1 m.3243A\>G row 1; maternal sample n.d. in fibroblasts. |
| 1002 | 3243 | m.3243A\>G | A3243G\-F532 | A3243G\-F532\-P1 | Fam | ND | Y | Y | ND | ND | / | 60% | / | / | MELAS; Complex I deficiency | Table 1 MTTL1 m.3243A\>G row 2\. |
| 1003 | 3243 | m.3243A\>G | A3243G\-F532 | A3243G\-F532\-P2 | Fam | F | N | ND | ND | ND | 5% | / | / | / | Maternal carrier; Clinical status not provided | Mother of Table 1 m.3243A\>G row 2 proband; maternal blood mutant load about 5%. |
| 1004 | 3243 | m.3243A\>G | A3243G\-F533 | A3243G\-F533\-P1 | Fam | ND | Y | Y | ND | ND | / | 70% | / | / | MELAS; Complex I deficiency | Table 1 MTTL1 m.3243A\>G row 3\. |
| 1005 | 3243 | m.3243A\>G | A3243G\-F534 | A3243G\-F534\-P1 | Fam | F | N | N | A | ND | 25% | / | 25% | 25%(Around) | Healthy | Female partner of couple 1; around 25% in blood, urinary tract and buccal cells; Unaffected A3243G carrier seeking PGD |
| 1006 | 3243 | m.3243A\>G | A3243G\-F534 | A3243G\-F534\-P2 | Fam | ND | Y | Y | A | 2 | / | / | / | 60%(ND) | MELAS; Encephalopathy with stroke\-like episodes, seizures and ataxia | Affected second child/proband of couple 1\. |
| 1007 | 3243 | m.3243A\>G | A3243G\-F534 | A3243G\-F534\-P3 | Fam | ND | N | ND | D | prenatal | / | / | / | \>60%(ND) | ND | Human fetal carrier row; not an embryo/oocyte research product; Pregnancy terminated for fetal A3243G load above 60%; clinical phenotype not assessable |
| 1008 | 3243 | m.3243A\>G | A3243G\-F534 | A3243G\-F534\-P4 | Fam | ND | N | ND | D | prenatal | / | / | / | \>60%(ND) | ND | Human fetal carrier row; not an embryo/oocyte research product; Pregnancy terminated for fetal A3243G load above 60%; clinical phenotype not assessable |
| 1009 | 3243 | m.3243A\>G | A3243G\-F535 | A3243G\-F535\-P1 | Uninf | ND | ND | ND | ND | ND | 12\.7% | / | / | / | ND | Table 2; mean mutation load in peripheral blood 12\.7%; single PBMC distribution also reported; Known A3243G mutation patient/carrier; clinical phenotype not specified |
| 1010 | 3243 | m.3243A\>G | A3243G\-F536 | A3243G\-F536\-P2 | Uninf | F | ND | ND | ND | ND | 50% | / | / | 74\.2%(Oocyte/first polar body); 59\.2%(Oocyte/first polar body); 15\.4%(Oocyte/first polar body); 57\.0%(Oocyte/first polar body); 52\.4%(Oocyte/first polar body); 57\.7%(Oocyte/first polar body); 12\.1%(Oocyte/first polar body); 33\.5%(Oocyte/first polar body); 71\.1%(Oocyte/first polar body); 58\.6%(Oocyte/first polar body); 16\.6%(Oocyte/first polar body); 48\.0%(Oocyte/first polar body); 45\.0%(Oocyte/first polar body); 57\.9%(Oocyte/first polar body); 8\.9%(Oocyte/first polar body) | ND | Table 2 peripheral blood mean 50%; Table 3 oocyte and first polar body mutation loads from Patient 2; Known A3243G mutation patient/carrier contributing oocytes and polar bodies; clinical phenotype not specified |
| 1011 | 3243 | m.3243A\>G | A3243G\-F537 | A3243G\-F537\-P3 | Uninf | ND | ND | ND | ND | ND | 50% | / | / | / | ND | Table 2; mean mutation load in peripheral blood 50%; single PBMC distribution also reported; Known A3243G mutation patient/carrier; clinical phenotype not specified |
| 1012 | 3243 | m.3243A\>G | A3243G\-F538 | A3243G\-F538\-P4 | Uninf | ND | ND | ND | ND | ND | 44% | / | / | / | ND | Table 2; mean mutation load in peripheral blood 44%; single PBMC distribution also reported; Known A3243G mutation patient/carrier; clinical phenotype not specified |
| 1013 | 3243 | m.3243A\>G | A3243G\-F539 | A3243G\-F539\-P5 | Uninf | ND | ND | N | ND | ND | 3\.6% | / | / | / | Healthy | Table 2 and Results; known blood mutation load 3\.6%; 100 PBMCs were additionally analysed; Asymptomatic patient with known A3243G mutation |
| 1014 | 3243 | m.3243A\>G | A3243G\-F540 | A3243G\-F540\-P1 | Uninf | M | Y | Y | ND | 12 | / | / | / | / | Syndromic SNHL diagnosed at 8; Hypertrophic cardiomyopathy; Generalized muscle atrophy | One m.3243A\>G\-positive boy in the pediatric Portuguese SNHL cohort; exact heteroplasmy percentage not reported. |
| 1015 | 3243 | m.3243A\>G | A3243G\-F541 | A3243G\-F541\-P1 | Uninf | F | Y | Y | A | 11 | / | / | / | / | MELAS; Seizures; Weakness; Exercise intolerance; Improved seizure control, strength, exercise tolerance, speech fluency, sleep, and social interaction on EPI\-743 | Patient 4; Table 1 genetic diagnosis is 3243A\>G mtDNA, but tissue and mutant load are not reported. |
| 1016 | 3243 | m.3243A\>G | A3243G\-F542 | A3243G\-F542\-P1 | Uninf | M | Y | Y | A | 8 | / | / | / | / | Dystonia/choreoathetosis; Severe choreoathetosis; Sleep and social interaction improved; Started to use sign language | Patient 5; Table 1 genetic diagnosis is 3243A\>G mtDNA, but tissue and mutant load are not reported. |
| 1017 | 3243 | m.3243A\>G | A3243G\-F543 | A3243G\-F543\-P1 | Uninf | M | Y | Y | A | 27 | / | / | / | / | MELAS; Prior bilateral cortical infarction; Cerebral and cerebellar atrophy; Improved speech fluency and social interaction on EPI\-743 | Patient 7; Table 1 genetic diagnosis is 3243A\>G mtDNA, but tissue and mutant load are not reported. |
| 1018 | 3243 | m.3243A\>G | A3243G\-F544 | A3243G\-F544\-P1 | Uninf | F | ND | Y | D | 60 | / | / | / | 15\.7%(Neuron); 9\.2%(Neuron); 8\.9%(Neuron) | MELAS; Ataxia; Stroke; Epilepsy; Dementia/encephalopathy; Migraine; Myopathy/fatigue; Depression; Retinopathy; Deafness; Dysphagia/GI symptoms; Arrhythmia; Diabetes | Table 1/3 Patient 1; other load is laser\-microdissected neuronal heteroplasmy, not bulk tissue. |
| 1019 | 3243 | m.3243A\>G | A3243G\-F545 | A3243G\-F545\-P1 | Uninf | F | ND | Y | D | 57 | / | / | / | / | MELAS; Ataxia; Stroke; Depression; Diplopia; Irritable bowel/low BMI; Cardiac failure/heart block/IHD | Table 1 Patient 2; Table 3 neuronal heteroplasmy not determined. |
| 1020 | 3243 | m.3243A\>G | A3243G\-F546 | A3243G\-F546\-P1 | Uninf | M | ND | Y | D | 45 | / | / | / | / | MELAS; Ataxia; Stroke; Epilepsy; Dementia/encephalopathy; Migraine; Ophthalmoplegia; Dysphagia/GI symptoms; Left occipital infarct | Table 1 Patient 3; Table 3 neuronal heteroplasmy not determined. |
| 1021 | 3243 | m.3243A\>G | A3243G\-F547 | A3243G\-F547\-P1 | Uninf | F | ND | Y | D | 36 | / | / | / | 2\.1%(Neuron); 15\.7%(Neuron); 20\.6%(Neuron) | MELAS; Ataxia; Epilepsy; Dementia/encephalopathy; Areflexia; Myopathy; Optic atrophy; Retinopathy; Deafness; Dysarthria; GI symptoms; Arrhythmia/cardiomyopathy; Diabetes | Table 1/3 Patient 4; other load is laser\-microdissected neuronal heteroplasmy, not bulk tissue. |
| 1022 | 3243 | m.3243A\>G | A3243G\-F548 | A3243G\-F548\-P1 | Uninf | F | ND | Y | D | 42 | / | / | / | / | MELAS; Ataxia; Stroke; Myoclonus; Myopathy; Depression; Optic atrophy; Deafness; Dysphonia; Constipation; Cardiomyopathy; Diabetes; Infertility/miscarriage/PCOS | Table 1 Patient 5; Table 3 neuronal heteroplasmy not determined. |
| 1023 | 3243 | m.3243A\>G | A3243G\-F549 | A3243G\-F549\-P1 | Uninf | F | ND | Y | D | 20 | / | / | / | 3\.8%(Neuron); 11\.1%(Neuron) | MELAS; Severe ataxia; Stroke; Myopathy; Fatigue; Deafness; Renal tubulopathy | Table 1/3 Patient 6; other load is laser\-microdissected neuronal heteroplasmy, not bulk tissue. |
| 1024 | 3243 | m.3243A\>G | A3243G\-F550 | A3243G\-F550\-P1 | Uninf | M | ND | Y | D | 30 | / | / | / | 14\.9%(Neuron); 16\.8%(Neuron) | MERRF phenotype with m.3243A\>G; Severe ataxia; Myoclonus; Areflexia; Myopathy; Deafness; Dysarthria/dysphonia/dysphagia; Renal failure; Basal ganglia/thalami calcification; Cerebellar atrophy | Table 1/3 Patient 7; other load is laser\-microdissected neuronal heteroplasmy, not bulk tissue. |
| 1025 | 3243 | m.3243A\>G | A3243G\-F551 | A3243G\-F551\-P1 | Uninf | ND | Y | Y | A | 13 | 5\-10% | 60% | / | / | Classical MERRF phenotype; Myoclonic epilepsy; Generalized tonic\-clonic seizures; Proximal weakness; Ragged\-red fibers; COX\-negative fibers; Basal ganglia MRI lesions; No stroke\-like episodes or lactic acidosis | Comprehensive mtDNA analysis identified m.3243A\>G; no other mitochondrial tRNA mutation was found; parents declined further molecular testing. |
| 1026 | 3243 | m.3243A\>G | A3243G\-F552 | A3243G\-F552\-P1 | Uninf | F | ND | Y | D | 60 | / | 72% | / | 72%(ND); 71%(ND) | MELAS; Depression; Encephalopathy; Myopathy; Constipation; Ataxia; Migraine; Stroke\-like episodes; Seizures | Table 1/3 Pt1; age at death 60\. |
| 1027 | 3243 | m.3243A\>G | A3243G\-F553 | A3243G\-F553\-P1 | Uninf | F | ND | Y | D | 57 | / | / | / | / | MELAS; Depression; Cardiomyopathy; Irritable bowel; Ataxia; Migraine | Table 1 Pt2; Table 3 mutation load ND for VSMC/endothelial/skeletal muscle. |
| 1028 | 3243 | m.3243A\>G | A3243G\-F554 | A3243G\-F554\-P1 | Uninf | M | ND | Y | D | 45 | / | / | / | / | MELAS; Dementia; Encephalopathy; Constipation; Ataxia; Stroke\-like episodes; Seizures | Table 1 Pt3; Table 3 mutation load ND for VSMC/endothelial/skeletal muscle. |
| 1029 | 3243 | m.3243A\>G | A3243G\-F555 | A3243G\-F555\-P1 | Uninf | F | ND | Y | D | 36 | / | 64% | / | 84%(ND); 86%(ND) | MELAS; Dementia; Encephalopathy; Optic atrophy; Ataxia; Migraine; Stroke\-like episodes; Seizures | Table 1/3 Pt4; age at death 36\. |
| 1030 | 3243 | m.3243A\>G | A3243G\-F556 | A3243G\-F556\-P1 | Uninf | F | ND | Y | D | 42 | / | / | / | / | MELAS; Myoclonus; Myopathy; Depression; Ataxia; Stroke\-like episodes | Table 1 Pt5; Table 3 mutation load ND for VSMC/endothelial/skeletal muscle. |
| 1031 | 3243 | m.3243A\>G | A3243G\-F557 | A3243G\-F557\-P1 | Uninf | F | ND | Y | D | 20 | / | 63% | / | 84%(ND); 88%(ND) | MELAS; Dementia; Encephalopathy; Deafness; Irritable bowel; Ataxia; Stroke\-like episodes | Table 1/3 Pt6; age at death 20\. |
| 1032 | 3243 | m.3243A\>G | A3243G\-F558 | A3243G\-F558\-P1 | Uninf | M | ND | Y | D | 30 | / | 72% | / | 76%(ND); 87%(ND) | Cardiomyopathy; Peripheral neuropathy; Myopathy; Ophthalmoplegia; Ataxia; Stroke\-like episodes | Table 1/3 Pt7; age at death 30\. |
| 1033 | 3243 | m.3243A\>G | A3243G\-F559 | A3243G\-F559\-P1 | Uninf | M | ND | Y | D | 45 | / | 85% | / | 80%(ND); 82%(ND) | MELAS; Epilepsy; Ataxia | Table 1/3 Pt8; age at death 45\. |
| 1034 | 3243 | m.3243A\>G | A3243G\-F560 | A3243G\-F560\-I1 | Uninf | F | N | N | A | 30 | 35% | / | / | / | No maternal symptoms reported | Patient in PGD study; blood mutation load 35%; A3243G carrier seeking IVF/PGD to reduce MELAS transmission risk |
| 1035 | 3243 | m.3243A\>G | A3243G\-F560 | A3243G\-F560\-II1 | Fam | F | Y | Y | A | 2 | 84% | / | / | / | MELAS syndrome | Symptomatic 2\-year\-old daughter; blood mutation load 84%. |
| 1036 | 3243 | m.3243A\>G | A3243G\-F560 | A3243G\-F560\-II2 | Fam | M | N | N | A | 1\-12 months | \<10% | / | 0% | 15%(Trophectoderm); 0%(BM) | Healthy | Male embryo predicted 12% mutation load by trophectoderm biopsy; urine sediment and later BM tests were undetectable; Healthy |
| 1037 | 3243 | m.3243A\>G | A3243G\-F561 | A3243G\-F561\-I2 | Uninf | F | N | Y | A | DM onset 53 | 2\.5% | / | / | / | Insulin\-dependent diabetes mellitus and deafness | Mother in Figure 1; peripheral blood leukocyte heteroplasmy. |
| 1038 | 3243 | m.3243A\>G | A3243G\-F561 | A3243G\-F561\-II1 | Fam | M | N | Y | A | DM onset 49 | 15% | / | / | / | Diabetes and deafness; Progressive insulin resistance | Figure 1; peripheral blood leukocyte heteroplasmy; in family context |
| 1039 | 3243 | m.3243A\>G | A3243G\-F561 | A3243G\-F561\-II2 | Fam | M | Y | Y | D | DM onset 29; died 62 | 20% | 83%; 84% | / | / | MIDD evolving into MELAS; Diabetes; Sensorineural deafness; Stroke\-like episodes; Severe insulin resistance; Mitochondrial myopathy; Right ventricular failure | Explicit proband in Figure 1; muscle heteroplasmy reported as 83% in figure and 84% in text. |
| 1040 | 3243 | m.3243A\>G | A3243G\-F561 | A3243G\-F561\-II3 | Fam | F | N | N | A | ND | \<5% | / | / | / | Healthy | Eligible negative/less\-than\-detection child of target\-positive mother; Figure 1 reports '\- or \<5%' in blood, recorded as 0 and treated as a branch stop; Healthy |
| 1041 | 3243 | m.3243A\>G | A3243G\-F561 | A3243G\-F561\-II4 | Fam | F | N | Y | A | DM onset 27 | 20% | / | / | / | Diabetes/deafness phenotype with progressive disease and insulin resistance | Figure 1; peripheral blood leukocyte heteroplasmy; in family context |
| 1042 | 3243 | m.3243A\>G | A3243G\-F561 | A3243G\-F561\-II5 | Fam | F | N | Y | A | DM onset 34 | 23% | 77% | / | / | Diabetes/deafness phenotype | Figure 1; peripheral blood leukocyte heteroplasmy with muscle value in parentheses |
| 1043 | 3243 | m.3243A\>G | A3243G\-F562 | A3243G\-F562\-I1 | Uninf | F | Y | Y | A | 62 | 7\.1% | / | / | / | Hearing loss and vision problems | Figure 4a family 1 proband. |
| 1044 | 3243 | m.3243A\>G | A3243G\-F562 | A3243G\-F562\-II1 | Fam | F | N | ND | A | 30 | 9\.3% | / | / | / | Clinical features not stated | Figure 4a family 1 daughter. |
| 1045 | 3243 | m.3243A\>G | A3243G\-F563 | A3243G\-F563\-P1 | Uninf | M | ND | Y | ND | 39 | / | 73% | / | 22%(iPSC) | MIDD | Patient line M1; iPSC clones and differentiated cells are not separate carrier rows. |
| 1046 | 3243 | m.3243A\>G | A3243G\-F564 | A3243G\-F564\-P1 | Uninf | M | ND | Y | ND | 52 | / | 50% | / | 21%(iPSC) | MIDD and ataxia | Patient line M2; iPSC clones and differentiated cells are not separate carrier rows. |
| 1047 | 3243 | m.3243A\>G | A3243G\-F565 | A3243G\-F565\-P1 | Uninf | F | ND | Y | ND | 55 | / | 90% | / | 35%(iPSC) | Cardiomyopathy | Patient line M3; iPSC clones and differentiated cells are not separate carrier rows. |
| 1048 | 3243 | m.3243A\>G | A3243G\-F566 | A3243G\-F566\-P1 | Fam | F | ND | ND | A | ND | 12% | / | 55% | / | ND | Pt1 mother; Table 1 maternal mutation and heteroplasmy level; Known A3243G carrier in prenatal testing context; clinical affected status not stated |
| 1049 | 3243 | m.3243A\>G | A3243G\-F566 | A3243G\-F566\-P2 | Fam | ND | N | ND | D | ND | / | / | / | 68%(CVB) | ND | CVB fetal DNA is a human carrier sample, not an embryo/oocyte/ES\-cell research product; Human prenatal fetal sample; pregnancy terminated after A3243G CVB result; no postnatal clinical phenotype |
| 1050 | 3243 | m.3243A\>G | A3243G\-F567 | A3243G\-F567\-P1 | Fam | F | ND | ND | A | ND | 1% | / | 18% | / | ND | Pt3 mother; CVB fetus had no mutation detected and is excluded; Known A3243G carrier in prenatal testing context; clinical affected status not stated |
| 1051 | 3243 | m.3243A\>G | A3243G\-F568 | A3243G\-F568\-I1 | Uninf | F | N | N | A | ND | 14\.4% | / | / | 33\.5%(BM) | Healthy | M512 mother; Table 2 cheek and blood allele frequencies converted to percentages; Healthy |
| 1052 | 3243 | m.3243A\>G | A3243G\-F568 | A3243G\-F568\-II1 | Fam | ND | N | N | A | ND | 61\.1% | / | / | 68\.6%(BM) | Healthy | M512 child; Table 2 cheek and blood allele frequencies converted to percentages; Healthy |
| 1053 | 3243 | m.3243A\>G | A3243G\-F569 | A3243G\-F569\-P1 | Uninf | ND | ND | ND | ND | ND | 19% | / | / | / | ND | Table 1 sample 28; m.3243A\>G in MT\-TL1, leukocytes 19%, Sanger initial result yes, genuine variant yes, pathogenic according to MITOMAP; Clinical suspicion of a mitochondrial DNA disorder; subject\-specific phenotype not reported |
| 1054 | 3243 | m.3243A\>G | A3243G\-F570 | A3243G\-F570\-P1 | Uninf | F | ND | Y | ND | 25 | / | / | / | / | Exercise intolerance; Ptosis | Original paper subject label P12\. |
| 1055 | 3243 | m.3243A\>G | A3243G\-F571 | A3243G\-F571\-P1 | Uninf | F | ND | Y | ND | 40 | / | / | / | / | Exercise intolerance and mild deafness | Original paper subject label P13\. |
| 1056 | 3243 | m.3243A\>G | A3243G\-F572 | A3243G\-F572\-P1 | Uninf | F | ND | Y | ND | 42 | / | / | / | / | Epilepsy; Bilateral sensorineural hearing loss; Diabetes; Gastrointestinal complications | Original paper subject label P14\. |
| 1057 | 3243 | m.3243A\>G | A3243G\-F573 | A3243G\-F573\-P1 | Uninf | F | ND | Y | ND | 47 | / | / | / | / | Modest exercise intolerance | Original paper subject label P15\. |
| 1058 | 3243 | m.3243A\>G | A3243G\-F574 | A3243G\-F574\-P1 | Uninf | M | ND | Y | ND | 53 | / | / | / | / | CPEO | Original paper subject label P16\. |
| 1059 | 3243 | m.3243A\>G | A3243G\-F575 | A3243G\-F575\-P1 | De novo | F | Y | Y | A | 9 months | 63\.64% | / | / | / | Dilated mitochondrial cardiomyopathy; Left ventricular hypertrophy; Increased lactic acid | Patient A; parents tested negative, supporting de novo status. |
| 1060 | 3243 | m.3243A\>G | A3243G\-F576 | A3243G\-F576\-II1 | Fam | F | Y | Y | A | 54 | / | / | / | 71\-79%(ND) | Diabetes mellitus for more than 10 years, sensorineural deafness, macular dystrophy/chorioretinal atrophy and decreased visual acuity | First sister (54\-year\-old). |
| 1061 | 3243 | m.3243A\>G | A3243G\-F576 | A3243G\-F576\-II2 | Fam | F | Y | Y | A | 60 | / | / | / | 17\-25%(ND) | Diabetes mellitus for more than 10 years, sensorineural deafness, similar macular dystrophy/chorioretinal atrophy | Second sister (60\-year\-old). |
| 1062 | 3243 | m.3243A\>G | A3243G\-F577 | A3243G\-F577\-II1 | Fam | M | Y | Y | A | 60 | / | / | / | / | Congestive heart failure, diffuse LV hypertrophy/hypofunction, diabetes mellitus, hard of hearing, mitochondrial cardiomyopathy on endomyocardial biopsy | Case 1; same m.3243A\>G abnormality as his mother; exact load not reported. |
| 1063 | 3243 | m.3243A\>G | A3243G\-F577 | A3243G\-F577\-I1 | Uninf | F | N | Y | ND | ND | / | / | / | / | Diabetes mellitus | Mother of case 1; exact load not reported. |
| 1064 | 3243 | m.3243A\>G | A3243G\-F578 | A3243G\-F578\-P1 | Uninf | M | Y | Y | A | 49 | / | / | / | / | Dyspnea on exertion, diabetes mellitus, mitochondrial cardiomyopathy | Case 2; no deafness or apparent family history; exact load not reported |
| 1065 | 3243 | m.3243A\>G | A3243G\-F579 | A3243G\-F579\-P1 | Fam | M | N | Y | A | 53 | \<50% | / | 47% | / | Symptomatic | Included from Extended Data Fig. 1b; maternal child of inferred 57y source; Symptomatic A3243G carrier in Extended Data Fig. 1b |
| 1066 | 3243 | m.3243A\>G | A3243G\-F579 | A3243G\-F579\-P2 | Fam | F | N | Y | A | 49 | \<50% | / | 91% | / | Symptomatic | Mother of 24y, 22y and 17y carriers; Symptomatic A3243G carrier in Extended Data Fig. 1b |
| 1067 | 3243 | m.3243A\>G | A3243G\-F579 | A3243G\-F579\-P3 | Fam | F | N | Y | A | 38 | \>50% | / | 21% | / | Symptomatic | Mother of 19y male, 16y male and 11y female carriers; Symptomatic A3243G carrier in Extended Data Fig. 1b |
| 1068 | 3243 | m.3243A\>G | A3243G\-F579 | A3243G\-F579\-P4 | Fam | M | N | ND | A | 19 | \>50% | / | 35% | / | ND | Included from figure load and symptom symbol; Symptomatic child of 38y female in Extended Data Fig. 1b |
| 1069 | 3243 | m.3243A\>G | A3243G\-F579 | A3243G\-F579\-P5 | Fam | M | N | ND | A | 16 | \<50% | / | 36% | / | ND | Included from figure load and symptom symbol; Symptomatic child of 38y female in Extended Data Fig. 1b |
| 1070 | 3243 | m.3243A\>G | A3243G\-F579 | A3243G\-F579\-P6 | Fam | F | N | N | A | 11 | \>50% | / | 39% | / | No target clinical symptom shading in Extended Data Fig. 1b. | Child of 38y female; carrier row and G count; No target clinical symptom shading in Extended Data Fig. 1b |
| 1071 | 3243 | m.3243A\>G | A3243G\-F579 | A3243G\-F579\-P7 | Fam | F | N | Y | A | 36 | 50% | / | 33% | / | Symptomatic | Mother of one NT G/H\-only child and three tested carrier children; Symptomatic A3243G carrier in Extended Data Fig. 1b |
| 1072 | 3243 | m.3243A\>G | A3243G\-F579 | A3243G\-F579\-P8 | Fam | F | N | ND | A | 16 | 50% | / | 36% | / | ND | Included from figure load and symptom symbol; Symptomatic child of 36y female in Extended Data Fig. 1b |
| 1073 | 3243 | m.3243A\>G | A3243G\-F579 | A3243G\-F579\-P9 | Fam | F | N | ND | A | 7 | 50% | / | / | / | ND | Only a blood value is legible/reported for this child in the packet figure; Symptomatic child of 36y female in Extended Data Fig. 1b |
| 1074 | 3243 | m.3243A\>G | A3243G\-F579 | A3243G\-F579\-P10 | Fam | F | N | ND | A | 5 | \>10% | / | / | / | ND | Only a blood value is legible/reported for this child in the packet figure; Symptomatic child of 36y female in Extended Data Fig. 1b |
| 1075 | 3243 | m.3243A\>G | A3243G\-F579 | A3243G\-F579\-P11 | Fam | F | N | Y | A | 32 | 14% | / | 35% | 47%(F) | Symptomatic | Fig.1a/text gives 14% blood, 47% skin fibroblast and 35% urine for cED4; Extended Data Fig.1b supplies the wider pedigree/G\-H context; A3243G carrier selected for mitochondrial replacement; Extended Data Fig. 1b shows symptom shading |
| 1076 | 3243 | m.3243A\>G | A3243G\-F579 | A3243G\-F579\-P12 | Fam | F | N | ND | A | 6 | 50% | / | 31% | / | ND | Main Fig.1a cED4 branch; figure shows female 6y child with B 50% and U 31%; Child of cED4; inherited A3243G; no diagnosed mitochondrial disease symbol in Fig. 1a |
| 1077 | 3243 | m.3243A\>G | A3243G\-F579 | A3243G\-F579\-P13 | Fam | M | N | ND | A | 12 | \>10% | / | / | / | ND | Main Fig.1a cED4 branch; figure shows male 12y child with B \>10%; urine/skin not reported; Child of cED4; inherited A3243G; no diagnosed mitochondrial disease symbol in Fig. 1a |
| 1078 | 3243 | m.3243A\>G | A3243G\-F579 | A3243G\-F579\-P14 | Fam | F | N | ND | A | 16 | 5% | / | 98% | 6%(SF) | ND | Main Fig.1a cED4 branch; figure/text show female 16y child with B 5%, SF 6%, U 98%; Child of cED4; inherited A3243G; no diagnosed mitochondrial disease symbol in Fig. 1a |
| 1079 | 3243 | m.3243A\>G | A3243G\-F579 | A3243G\-F579\-P15 | Fam | F | N | Y | A | 29 | \>50% | / | 22% | / | Symptomatic | Mother of two tested carrier children and one NT G/H\-only child; Symptomatic A3243G carrier in Extended Data Fig. 1b |
| 1080 | 3243 | m.3243A\>G | A3243G\-F579 | A3243G\-F579\-P16 | Fam | F | N | N | A | 12 | \>50% | / | 22% | / | No target clinical symptom shading in Extended Data Fig. 1b. | Child of 29y female; carrier row and G count; No target clinical symptom shading in Extended Data Fig. 1b |
| 1081 | 3243 | m.3243A\>G | A3243G\-F579 | A3243G\-F579\-P17 | Fam | F | N | N | A | 10 | \<40% | / | 90% | / | No target clinical symptom shading in Extended Data Fig. 1b. | Child of 29y female; carrier row and G count; No target clinical symptom shading in Extended Data Fig. 1b |
| 1082 | 3243 | m.3243A\>G | A3243G\-F579 | A3243G\-F579\-P18 | Fam | F | Y | Y | A | 23 | \>50% | / | 9% | / | MELAS; Mitochondrial encephalomyopathy, lactic acidosis and stroke\-like episodes | Starred first MELAS patient in Extended Data Fig.1b; explicit proband subtracted from H; figure shows blood \>50% and urine 9%; first clinically diagnosed patient in pedigree |
| 1083 | 3243 | m.3243A\>G | A3243G\-F579 | A3243G\-F579\-P19 | Fam | M | N | N | A | 24 | 50% | / | 39% | / | No target clinical symptom shading in Extended Data Fig. 1b. | Child of 49y female; carrier row and G count; No target clinical symptom shading in Extended Data Fig. 1b |
| 1084 | 3243 | m.3243A\>G | A3243G\-F579 | A3243G\-F579\-P20 | Fam | F | N | ND | A | 22 | \>50% | / | 30% | / | ND | Included from figure load and symptom symbol; Symptomatic child of 49y female in Extended Data Fig. 1b |
| 1085 | 3243 | m.3243A\>G | A3243G\-F579 | A3243G\-F579\-P21 | Fam | M | N | ND | A | 17 | \>50% | / | 36% | / | ND | Included from figure load and symptom symbol; Symptomatic child of 49y female in Extended Data Fig. 1b |
| 1086 | 3243 | m.3243A\>G | A3243G\-F580 | A3243G\-F580\-P1 | De novo | ND | Y | Y | A | 44 | 12% | / | / | / | Presumably de novo m.3243A\>G disease | Table 1 family 16390 index patient; mother negative in blood and urine; clinical details not reported in table |
| 1087 | 3243 | m.3243A\>G | A3243G\-F580 | A3243G\-F580\-P2 | Fam | F | N | ND | ND | ND | / | / | 4% | / | ND | Table 1 reports daughter with m.3243A\>G 4% in urine; no clinical phenotype, age, or additional tissue result reported; Molecularly positive daughter; phenotype not reported |
| 1088 | 3243 | m.3243A\>G | A3243G\-F581 | A3243G\-F581\-P1 | De novo | ND | Y | Y | A | 3 | 8% | 8% | / | / | Presumably de novo m.3243A\>G disease | Table 1 family 19462 index patient; mother negative in blood and urine; clinical details not reported in table |
| 1089 | 3243 | m.3243A\>G | A3243G\-F582 | A3243G\-F582\-P1 | De novo | ND | Y | Y | D | 2; died 3 | 13% | 12% | 16% | 17%(ND); 14%(ND) | Severe infantile\-onset disease with hypotonia, feeding problems, psychomotor retardation and intractable epilepsy; Later POLG diagnosis consistent with Alpers syndrome | This article case 5; m.3243A\>G was absent in mother and maternal grandmother; 11 oocytes/embryos were negative. |
| 1090 | 3243 | m.3243A\>G | A3243G\-F583 | A3243G\-F583\-P1 | Uninf | F | Y | Y | A | 30 | / | / | / | / | MIDD\-associated macular dystrophy; Bilateral intraretinal cystoid macular changes; Hearing loss; Asthma; Migraines | Original paper subject: 30\-year\-old female proband; renal transplantation; cyclosporine and everolimus immunosuppression. |
| 1091 | 3243 | m.3243A\>G | A3243G\-F584 | A3243G\-F584\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | Bilateral symmetric sensorineural hearing loss | heteroplasmic m.3243A\>G\-positive proband meeting all five mitochondrial SNHL clinical criteria |
| 1092 | 3243 | m.3243A\>G | A3243G\-F585 | A3243G\-F585\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | Sensorineural hearing loss | heteroplasmic m.3243A\>G\-positive proband who did not meet all five mitochondrial SNHL clinical criteria |
| 1093 | 3243 | m.3243A\>G | A3243G\-F586 | A3243G\-F586\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | Sensorineural hearing loss | heteroplasmic m.3243A\>G\-positive proband who did not meet all five mitochondrial SNHL clinical criteria |
| 1094 | 3243 | m.3243A\>G | A3243G\-F587 | A3243G\-F587\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | Sensorineural hearing loss | heteroplasmic m.3243A\>G\-positive proband who did not meet all five mitochondrial SNHL clinical criteria |
| 1095 | 3243 | m.3243A\>G | A3243G\-F588 | A3243G\-F588\-P1 | Uninf | M | Y | Y | A | 41 | / | / | / | / | A3243G\-associated macular dystrophy; Corneal endothelial polymegathism; Mild/rare guttata | Patient 1; genetically confirmed m.3243A\>G; no subject\-level heteroplasmy percentage reported. |
| 1096 | 3243 | m.3243A\>G | A3243G\-F589 | A3243G\-F589\-P1 | Uninf | F | Y | Y | A | 54 | / | / | / | / | A3243G\-associated macular dystrophy; Corneal endothelial polymegathism; Mild/rare guttata | Patient 2; genetically confirmed m.3243A\>G; no subject\-level heteroplasmy percentage reported. |
| 1097 | 3243 | m.3243A\>G | A3243G\-F590 | A3243G\-F590\-P1 | Uninf | M | Y | Y | A | 43 | / | / | / | / | A3243G\-associated macular dystrophy; Corneal endothelial polymegathism; Mild/rare guttata | Patient 3; genetically confirmed m.3243A\>G; no subject\-level heteroplasmy percentage reported. |
| 1098 | 3243 | m.3243A\>G | A3243G\-F591 | A3243G\-F591\-P1 | Uninf | F | Y | Y | A | 48 | / | / | / | / | A3243G\-associated macular dystrophy; Corneal endothelial polymegathism; Mild/rare guttata | Patient 4; genetically confirmed m.3243A\>G; no subject\-level heteroplasmy percentage reported. |
| 1099 | 3243 | m.3243A\>G | A3243G\-F592 | A3243G\-F592\-P1 | Uninf | F | Y | Y | A | 60 | / | / | / | / | A3243G\-associated macular dystrophy; Corneal endothelial polymegathism; Mild/rare guttata | Patient 5; genetically confirmed m.3243A\>G; no subject\-level heteroplasmy percentage reported. |
| 1100 | 3243 | m.3243A\>G | A3243G\-F593 | A3243G\-F593\-P1 | Uninf | M | Y | Y | D | 13 | / | / | 87% | / | MELAS; Nephrotic syndrome; Chronic heart failure; Recurrent stroke\-like episodes; Cecal volvulus; Muscle weakness | Original paper subject: 13\-year\-old boy; autopsy case. |
| 1101 | 3243 | m.3243A\>G | A3243G\-F594 | A3243G\-F594\-P1 | Fam | M | Y | Y | D | 1 month | / | 92% | / | 90%(ND) | Neonatal cardiomyopathy, heart failure, WPW, ptosis, muscular hypotonia, renal and liver involvement | Patient 1; died within 3 months. |
| 1102 | 3243 | m.3243A\>G | A3243G\-F594 | A3243G\-F594\-P2 | Fam | F | N | Y | A | 34\.8 | 31% | / | / | / | Hearing impairment and small size | Mother of Patient 1; leukocyte m.3243A\>G 31%. |
| 1103 | 3243 | m.3243A\>G | A3243G\-F594 | A3243G\-F594\-P3 | Fam | F | N | N | A | 10 | 31% | / | / | / | Healthy | Sister of Patient 1; leukocyte m.3243A\>G 31%; Healthy |
| 1104 | 3243 | m.3243A\>G | A3243G\-F594 | A3243G\-F594\-P4 | Fam | M | N | N | A | 4 | 46% | / | / | / | Healthy | Brother of Patient 1; leukocyte m.3243A\>G 46%; Healthy |
| 1105 | 3243 | m.3243A\>G | A3243G\-F595 | A3243G\-F595\-P2 | Uninf | F | Y | Y | A | 14 | / | / | / | / | MELAS with sensorineural hearing loss, focal seizures, stroke\-like episodes, permanent blindness and hypertrophic cardiomyopathy | Patient 2; exact mutation tissue/load not reported in this paper. |
| 1106 | 3243 | m.3243A\>G | A3243G\-F596 | A3243G\-F596\-P3 | Fam | F | Y | Y | A | 23 | / | / | / | / | Developmental delay, ataxia, hypotonia, strabismus, sensorineural hearing loss, hypertrophic cardiomyopathy and WPW | Patient 3; exact mutation tissue/load not reported in this paper. |
| 1107 | 3243 | m.3243A\>G | A3243G\-F596 | A3243G\-F596\-P1 | Fam | F | N | Y | A | ND | / | / | / | / | Sensorineural hearing loss, small size and cardiomyopathy | Mother of Patient 3; m.3243A\>G detected but exact tissue/load not reported. |
| 1108 | 3243 | m.3243A\>G | A3243G\-F596 | A3243G\-F596\-P2 | Fam | M | N | Y | A | ND | / | / | / | / | Sensorineural hearing loss, small size and cardiomyopathy | Maternal uncle of Patient 3; m.3243A\>G detected but exact tissue/load not reported. |
| 1109 | 3243 | m.3243A\>G | A3243G\-F597 | A3243G\-F597\-P4 | Uninf | M | Y | Y | A | 24 | / | / | / | / | MELAS with muscle weakness, gait disturbance, seizures, four stroke\-like episodes, ragged\-red fibers and complex I deficiency | Patient 4; exact mutation tissue/load not reported in this paper. |
| 1110 | 3243 | m.3243A\>G | A3243G\-F598 | A3243G\-F598\-P5 | Uninf | F | Y | Y | A | 42 | 29% | / | 73% | 89%(BM); 52%(BM) | Sensorineural hearing loss, diabetes, hypertrophic cardiomyopathy, renal disease, heart/renal transplantation and retinal hemorrhage | Patient 5; oral mucosa abbreviated as BM. |
| 1111 | 3243 | m.3243A\>G | A3243G\-F599 | A3243G\-F599\-P6 | Uninf | M | Y | Y | A | 43 | / | / | / | / | Sensorineural hearing loss, headaches, oculomotor apraxia, insulin\-dependent diabetes and hypertrophic cardiomyopathy | Patient 6; exact mutation tissue/load not reported in this paper. |
| 1112 | 3243 | m.3243A\>G | A3243G\-F600 | A3243G\-F600\-P7 | Uninf | M | Y | Y | A | 45 | 20% | / | 88% | 86%(ND) | Sensorineural hearing loss, diabetes, cataract, ataxia, sick sinus syndrome, AV block and dilated cardiomyopathy | Patient 7\. |
| 1113 | 3243 | m.3243A\>G | A3243G\-F601 | A3243G\-F601\-P8 | Uninf | F | Y | Y | A | 61 | / | / | / | / | Diabetes, hypoacusis, dilated cardiomyopathy, pericardial effusion, muscle weakness and exercise intolerance | Patient 8; exact mutation tissue/load not reported in this paper. |
| 1114 | 3243 | m.3243A\>G | A3243G\-F602 | A3243G\-F602\-P9 | Uninf | M | Y | Y | A | 68 | / | / | / | / | Diabetes, sensorineural hearing loss, exercise intolerance and cardiac involvement | Patient 9; exact mutation tissue/load not reported in this paper. |
| 1115 | 3243 | m.3243A\>G | A3243G\-F603 | A3243G\-F603\-I2 | Uninf | F | N | Y | D | 74 | / | / | / | / | No nephrolithiasis symbol | Maternal ancestor in Figure 1; included from genotype\-symbol evidence; Figure 1 indicates diabetes and deafness |
| 1116 | 3243 | m.3243A\>G | A3243G\-F603 | A3243G\-F603\-II2 | Fam | F | N | Y | A | 60 | / | / | / | / | No nephrolithiasis symbol | Left maternal branch in Figure 1; included from genotype\-symbol evidence; Figure 1 indicates diabetes and deafness |
| 1117 | 3243 | m.3243A\>G | A3243G\-F603 | A3243G\-F603\-III2 | Fam | M | N | Y | A | 22 | / | / | / | / | No nephrolithiasis symbol | Left branch son in Figure 1; included from genotype\-symbol evidence; Figure 1 indicates diabetes and deafness |
| 1118 | 3243 | m.3243A\>G | A3243G\-F603 | A3243G\-F603\-II4 | Fam | F | Y | Y | A | 59 | / | / | / | / | Recurrent nephrolithiasis; Severe osteoporosis; Bilateral sensorineural deafness; Sensory axonal neuropathy; Mild proximal weakness | Explicit proband; text reports genetic study identified m.3243A\>G in heteroplasmy. |
| 1119 | 3243 | m.3243A\>G | A3243G\-F603 | A3243G\-F603\-III3 | Fam | M | N | Y | A | 34 | / | / | / | / | Recurrent kidney stones with hypercalciuria, high salt/protein intake and follow\-up metabolic abnormalities | Older adult son; text calls him an asymptomatic carrier but describes recurrent nephrolithiasis/metabolic stone risk. |
| 1120 | 3243 | m.3243A\>G | A3243G\-F603 | A3243G\-F603\-III4 | Fam | M | N | Y | A | 30 | / | / | / | / | Kidney stones with hypocitraturia, high\-normal urinary calcium, low urine ammonium, high salt intake and low urine volume | Younger adult son; text calls him an asymptomatic carrier but describes nephrolithiasis/metabolic stone risk. |
| 1121 | 3243 | m.3243A\>G | A3243G\-F604 | A3243G\-F604\-P1 | De novo | M | Y | Y | A | 12 | / | / | / | / | Mitochondrial encephalomyopathy; Impaired speech, writing, recognition and dressing; Unstable walking; Fever; Somnolence; Vomiting; Stroke\-like episode | Peripheral\-blood sequencing detected heteroplasmic A3243G in the proband; father and mother did not carry the mutation by Sanger sequencing. |
| 1122 | 3243 | m.3243A\>G | A3243G\-F605 | A3243G\-F605\-II1 | De novo | F | Y | Y | A | 60 | 7\.50% | / | 64\.33% | 12\.22%(ND); 6\.22%(ND) | Diabetes onset 40, mild bilateral SNHL, elevated lactate, brain MRI lesions/atrophy without severe MELAS | De novo m.3243A\>G plus m.16093T\>C; parentage confirmed. |
| 1123 | 3243 | m.3243A\>G | A3243G\-F605 | A3243G\-F605\-III1 | Fam | M | N | Y | A | 31 | 34\.16% | / | 88\.27% | 43\.77%(ND); 32\.28%(ND) | Diabetes onset 26, mild bilateral SNHL, elevated lactate, severe nausea/vomiting, frontal/parietal MRI lesions | Son of II\-1\. |
| 1124 | 3243 | m.3243A\>G | A3243G\-F606 | A3243G\-F606\-P1 | Uninf | M | Y | Y | A | 55 | / | / | / | / | MIDD/MELAS overlap; Diabetes with DKA; Loss of consciousness; Bilateral convulsion; Stroke\-like episode; Severe hearing difficulty; Elevated lactate\-pyruvate ratio | Mother had diabetes and hearing loss by history only; no reported molecular testing. Treated with L\-arginine and mitochondrial cocktail after day 253\. |
| 1125 | 3243 | m.3243A\>G | A3243G\-F607 | A3243G\-F607\-P1 | Uninf | F | Y | Y | A | 52 | / | / | / | / | Adult\-onset MELAS mimicking herpes simplex encephalitis; Fever; Delirium; Seizures; Elevated CSF lactate; Sensorineural hearing loss; Diabetes; ESRD | Discharged relatively stable; daughter migraines and maternal diabetes/short stature were clinical\-only/untested. |
| 1126 | 3243 | m.3243A\>G | A3243G\-F608 | A3243G\-F608\-III8 | Fam | M | Y | Y | A | 43 | 29% | / | / | / | MELAS\+MIDD: seizure, dementia, visual disturbance, hearing loss and diabetes | Table 1 PSQ final value; RFLP 15\.7%. |
| 1127 | 3243 | m.3243A\>G | A3243G\-F608 | A3243G\-F608\-II2 | Fam | F | N | Y | A | 80 | 0% | / | / | / | Diabetes mellitus | Table 1 PSQ final value 0%; RFLP 3\.7%. Included as eligible negative/low\-load maternal\-line record and branch stop. |
| 1128 | 3243 | m.3243A\>G | A3243G\-F608 | A3243G\-F608\-II7 | Fam | F | N | Y | A | 58 | 2% | / | / | / | Diabetes mellitus | Table 1 PSQ final value; RFLP 4\.6%. |
| 1129 | 3243 | m.3243A\>G | A3243G\-F608 | A3243G\-F608\-III2 | Fam | M | N | Y | A | 55 | 14% | / | / | / | Diabetes mellitus | Table 1 PSQ final value; RFLP 5\.2%. |
| 1130 | 3243 | m.3243A\>G | A3243G\-F608 | A3243G\-F608\-III3 | Fam | F | N | Y | A | 50 | 13% | / | / | / | Diabetes mellitus | Table 1 PSQ final value; RFLP 2\.1%. |
| 1131 | 3243 | m.3243A\>G | A3243G\-F608 | A3243G\-F608\-III4 | Fam | F | N | Y | A | 46 | 10% | / | / | / | Diabetes mellitus | Table 1 PSQ final value; RFLP 3\.4%. |
| 1132 | 3243 | m.3243A\>G | A3243G\-F608 | A3243G\-F608\-II5 | Fam | F | N | Y | A | 70 | 6% | / | / | / | Moderate hearing loss | Table 1 PSQ final value; RFLP 4\.0%. |
| 1133 | 3243 | m.3243A\>G | A3243G\-F609 | A3243G\-F609\-III2 | Fam | F | Y | Y | A | 16 | 53% | / | / | / | MELAS\+HL; Premature delivery, headache, vomiting, dementia, seizure, blurred vision, short stature, hearing loss and exercise intolerance | Table 1 PSQ final value; RFLP 40\.1%. |
| 1134 | 3243 | m.3243A\>G | A3243G\-F609 | A3243G\-F609\-II4 | Fam | F | N | Y | A | 44 | 16% | / | / | / | MELAS\+DM; Dysarthria, hemiplegia and migraine | Table 1 PSQ final value; RFLP 12\.8%. |
| 1135 | 3243 | m.3243A\>G | A3243G\-F609 | A3243G\-F609\-III1 | Fam | M | N | N | A | 7 | 47% | / | / | / | Healthy | Table 1 PSQ final value; RFLP 34\.4%; Healthy; premature delivered at age 29 weeks/before age of onset |
| 1136 | 3243 | m.3243A\>G | A3243G\-F610 | A3243G\-F610\-III1 | Fam | M | Y | Y | A | 16 | 30% | / | / | / | MELAS; Seizure, fever, headaches, vomiting and blurred vision | Table 1 PSQ final value; RFLP 25\.8%. |
| 1137 | 3243 | m.3243A\>G | A3243G\-F610 | A3243G\-F610\-II1 | Fam | ND | N | Y | A | 41 | 7% | / | / | / | Hearing loss | Table 1 PSQ final value; RFLP 6\.0%; gender not explicitly captured in Table 1 text extraction. |
| 1138 | 3243 | m.3243A\>G | A3243G\-F611 | A3243G\-F611\-II3 | Fam | F | Y | Y | A | 18 | 59% | / | / | / | MELAS\+HL; Hearing loss, developmental delay, seizure, vomiting and digestive problems | Table 1 PSQ final value; RFLP 28\.3%. |
| 1139 | 3243 | m.3243A\>G | A3243G\-F611 | A3243G\-F611\-I2 | Uninf | F | N | Y | A | 48 | 12% | / | / | / | Moderate hearing loss | Table 1 PSQ final value; RFLP 18\.2%. |
| 1140 | 3243 | m.3243A\>G | A3243G\-F612 | A3243G\-F612\-III1 | Fam | M | Y | Y | A | 30 | 29% | / | / | / | Mitochondrial myopathy plus diabetes; Muscle pain, calf edema, palpitation, chest distress, abdominal pain, dyspnea, lactic acidosis and muscle weakness | Table 1 PSQ final value; RFLP 13\.7%. |
| 1141 | 3243 | m.3243A\>G | A3243G\-F613 | A3243G\-F613\-III1 | Fam | F | Y | Y | D | 14 | 79% | / | / | / | Life\-threatening mitochondrial myopathy with cardiac arrest; Palpitation, chest distress, dyspnea, lactic acidosis and muscle weakness | Table 1 PSQ final value; RFLP 76\.8%; died on the ninth day after admission. |
| 1142 | 3243 | m.3243A\>G | A3243G\-F613 | A3243G\-F613\-II2 | Fam | F | N | N | A | 47 | 78% | / | / | / | Healthy | Table 1 PSQ final value; RFLP 67\.1%; Healthy |
| 1143 | 3243 | m.3243A\>G | A3243G\-F613 | A3243G\-F613\-II4 | Fam | F | N | N | A | 43 | 74% | / | / | / | Healthy | Table 1 PSQ final value; RFLP 60\.7%; Healthy |
| 1144 | 3243 | m.3243A\>G | A3243G\-F613 | A3243G\-F613\-III2 | Fam | M | N | N | A | 10 | 22% | / | / | / | Healthy | Table 1 PSQ final value; RFLP 17\.7%; Healthy |
| 1145 | 3243 | m.3243A\>G | A3243G\-F613 | A3243G\-F613\-III3 | Fam | F | N | N | A | 16 | 75% | / | / | / | Healthy | Table 1 PSQ final value; RFLP 58\.9%; Healthy |
| 1146 | 3243 | m.3243A\>G | A3243G\-F614 | A3243G\-F614\-III3 | Fam | M | Y | Y | A | 35 | 57% | / | / | / | NARP\-like syndrome with diabetes and hearing loss; Night blindness, dementia, ataxia, polyneuropathy and retinitis pigmentosa | Table 1/Figure 1 proband; text inconsistently mentions DA7\-III\-4, but Table 1 and Figure 1 support DA7\-III\-3; RFLP 20\.0%. |
| 1147 | 3243 | m.3243A\>G | A3243G\-F614 | A3243G\-F614\-III1 | Fam | M | N | Y | A | 48 | 5% | / | / | / | Diabetes mellitus | Table 1 PSQ final value; RFLP 7\.6%. |
| 1148 | 3243 | m.3243A\>G | A3243G\-F615 | A3243G\-F615\-P1 | Uninf | ND | ND | Y | ND | 20 | / | 67% | / | / | MELAS without RRFs; SSV positive; EM NA | Table 3 Patient 1; pyrosequenced muscle mutation load. |
| 1149 | 3243 | m.3243A\>G | A3243G\-F616 | A3243G\-F616\-P1 | Uninf | ND | ND | Y | ND | 21 | / | 56% | / | / | MELAS without RRFs; SSV positive; Occasional pleomorphic mitochondria | Table 3 Patient 2; pyrosequenced muscle mutation load. |
| 1150 | 3243 | m.3243A\>G | A3243G\-F617 | A3243G\-F617\-P1 | Uninf | ND | ND | Y | ND | 12 | / | 51% | / | / | MELAS without RRFs; SSV negative; EM NA | Table 3 Patient 3; pyrosequenced muscle mutation load. |
| 1151 | 3243 | m.3243A\>G | A3243G\-F618 | A3243G\-F618\-P1 | Uninf | ND | ND | Y | ND | 17 | / | / | / | / | MELAS without RRFs; SSV negative | Table 3 Patient 4; m.3243A\>G/MT\-TL1, muscle mutation load NA; muscle load not available |
| 1152 | 3243 | m.3243A\>G | A3243G\-F619 | A3243G\-F619\-P1 | Uninf | ND | ND | Y | ND | 24 | / | / | / | / | MELAS without RRFs; SSV negative | Table 3 Patient 5; m.3243A\>G/MT\-TL1, muscle mutation load NA; muscle load not available |
| 1153 | 3243 | m.3243A\>G | A3243G\-F620 | A3243G\-F620\-P1 | Uninf | ND | ND | Y | ND | 35 | / | 60% | / | / | MELAS without RRFs; SSV positive; EM NA | Table 3 Patient 6; pyrosequenced muscle mutation load. |
| 1154 | 3243 | m.3243A\>G | A3243G\-F621 | A3243G\-F621\-P1 | Uninf | F | Y | Y | D | 46 | / | 60%; 65\.91%; 84\.64% | / | 74\.71%(ND); 91\.16%(ND); 78\.48%(ND); 82\.02%(ND); 81\.40%(ND); 77\.04%(ND); 71\.38%(ND); 63\.28%(ND); 90\.76%(ND) | A3243G\-related mitochondrial disease without MELAS phenotype; Optic neuropathy; Sensorineural hearing loss; Type I diabetes; Atrial fibrillation; Ketoacidosis; Sepsis; Liver and kidney failure; Cor pulmonale; Heart failure; Polyneuropathy | Original post\-mortem case. Family history revealed no neuromuscular disorders. |
| 1155 | 3243 | m.3243A\>G | A3243G\-F622 | A3243G\-F622\-P1 | Uninf | ND | Y | Y | ND | ND | 17% | / | / | / | Clinical diagnosis of mitochondrial cytopathy | Subject \#7; heteroplasmic m.3243A\>G in peripheral blood DNA; 17% estimated from Sanger chromatogram A:G peak area 83:17, with ARMS\-PCR pattern comparable to 75:25 A:G control. |
| 1156 | 3243 | m.3243A\>G | A3243G\-F623 | A3243G\-F623\-P1 | Uninf | ND | Y | Y | ND | ND | 19% | / | / | / | Clinical diagnosis of mitochondrial cytopathy | Subject \#30; heteroplasmic m.3243A\>G in peripheral blood DNA; 19% estimated from Sanger chromatogram A:G peak area 81:19, with ARMS\-PCR pattern comparable to 75:25 A:G control. |
| 1157 | 3243 | m.3243A\>G | A3243G\-F624 | A3243G\-F624\-P1 | Uninf | M | Y | Y | ND | 30 onset | / | / | / | / | Moderate non\-syndromic hearing loss; PTA 65/68 dB; No aminoglycoside use; No reported diabetes, muscular disease, visual loss, or neurological disorder; Haplogroup F2 | Original subject SD310; blood Sanger positive, exact load not reported. Age 30 is age at onset in Table 2\. Figure 3 pedigrees do not include SD310; no family history |
| 1158 | 3243 | m.3243A\>G | A3243G\-F625 | A3243G\-F625\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | Exercise intolerance; Progressive muscle weakness; Suspected pediatric mitochondrial disease | Original patient ID 9; heteroplasmic MT\-TL1 m.3243A\>G. Cohort mtDNA blood heteroplasmy range 40%\-100%, but exact patient 9 percentage, sex and age are not reported in the available main PDF. |
| 1159 | 3243 | m.3243A\>G | A3243G\-F626 | A3243G\-F626\-P1 | Fam | F | Y | Y | A | 57 | 10% | / | / | 77%(Large bowel); 66%(Large bowel); 46%(Large bowel) | Heart failure; Hypertrophic/mitochondrial cardiomyopathy; Chronic intestinal pseudo\-obstruction; Bilateral sensorineural hearing loss; Basal ganglia calcification | Blood heteroplasmy about 10%; resected large bowel microdissection showed higher tissue loads. |
| 1160 | 3243 | m.3243A\>G | A3243G\-F626 | A3243G\-F626\-P2 | Fam | F | N | Y | A | about 25 | / | / | / | / | Squint since childhood, suggestive of ophthalmoplegia | No molecular testing in child; included because mother has confirmed mutation load and child phenotype is explicitly reported. |
| 1161 | 3243 | m.3243A\>G | A3243G\-F627 | A3243G\-F627\-P1 | Fam | F | N | Y | A | 22 | 35% | / | / | / | Normal physical and neurological examination, good cognitive function, normal brain MRI | MELAS patient 1 in sibling pilot study; asymptomatic/unaffected by reported clinical assessment. |
| 1162 | 3243 | m.3243A\>G | A3243G\-F627 | A3243G\-F627\-P2 | Fam | F | N | Y | A | 21 | 41% | / | / | / | Sensorineural hearing loss, peripheral neuropathy, exercise intolerance, mild global cerebral cortical atrophy | MELAS patient 2 in sibling pilot study. |
| 1163 | 3243 | m.3243A\>G | A3243G\-F627 | A3243G\-F627\-P3 | Fam | M | N | Y | A | 17 | 59% | / | / | / | Multiple prior stroke\-like episodes, migraine, reduced cognitive function, apraxia, right hemianopsia, sensorineural hearing loss, subtle ptosis, reduced muscle bulk and tone | MELAS patient 3 in sibling pilot study; highest blood mutant load. |
| 1164 | 3243 | m.3243A\>G | A3243G\-F628 | A3243G\-F628\-III4 | Fam | F | Y | Y | A | 39 years | 29%; 16\.7% | / | / | / | MIDD; Diabetes since 26; Sensorineural hearing loss with cochlear implant at 37; Macular dystrophy; Chorioretinal atrophy; Short stature/low BMI | Figure 1a proband III\-4\. Mother II\-5 and maternal uncle II\-2 had diabetes/SNHL by history only; no mtDNA test reported. |
| 1165 | 3243 | m.3243A\>G | A3243G\-F629 | A3243G\-F629\-P1 | Uninf | F | Y | Y | D | 0 d; dead 2 mo | / | / | / | / | Mitochondrial cardiomyopathy with HCM | Fig. 1 m.3243A\>G panel; exact heteroplasmy percentage is not inferred from bar width; Supplementary Table 2 unavailable. Table 3 gives MT\-TL1 m.3243A\>G and status; Fig. 1 shows fibroblast mutant mtDNA. |
| 1166 | 3243 | m.3243A\>G | A3243G\-F629 | A3243G\-F629\-P2 | Uninf | F | Y | Y | D | 7 mo; dead 3 yr 6 mo | / | / | / | / | Mitochondrial cardiomyopathy with DCM/WPW | Fig. 1 m.3243A\>G panel; exact heteroplasmy percentage is not inferred from bar width; Supplementary Table 2 unavailable. Table 3 gives MT\-TL1 m.3243A\>G and status; Fig. 1 shows fibroblast mutant mtDNA and maternal blood mutant mtDNA support. |
| 1167 | 3243 | m.3243A\>G | A3243G\-F629 | A3243G\-F629\-P3 | Uninf | M | Y | Y | D | 1 yr; dead 12 yr | / | / | / | / | MELAS with HCM | Fig. 1 m.3243A\>G panel; exact heteroplasmy percentage is not inferred from bar width; Supplementary Table 2 unavailable. Table 3 gives MT\-TL1 m.3243A\>G and status; Fig. 1 shows heart mutant mtDNA. |
| 1168 | 3243 | m.3243A\>G | A3243G\-F629 | A3243G\-F629\-P4 | Uninf | M | Y | Y | D | 1 yr; dead 13 yr | / | / | / | / | MELAS with HCM/WPW | Fig. 1 m.3243A\>G panel; exact heteroplasmy percentage is not inferred from bar width; Supplementary Table 2 unavailable. Table 3 gives MT\-TL1 m.3243A\>G and status; Fig. 1 shows muscle and heart mutant mtDNA. |
| 1169 | 3243 | m.3243A\>G | A3243G\-F629 | A3243G\-F629\-P5 | Uninf | ND | Y | Y | ND | 10 mo | / | / | / | / | Pediatric mitochondrial disease with m.3243A\>G | Fig. 1 m.3243A\>G panel; exact heteroplasmy percentage is not inferred from bar width; Supplementary Table 2 unavailable; no cardiomyopathy marker in Fig. 1 label |
| 1170 | 3243 | m.3243A\>G | A3243G\-F629 | A3243G\-F629\-P6 | Uninf | ND | Y | Y | ND | 1 yr | / | / | / | / | Pediatric mitochondrial disease with m.3243A\>G | Fig. 1 m.3243A\>G panel; exact heteroplasmy percentage is not inferred from bar width; Supplementary Table 2 unavailable. Fig. 1 also shows maternal blood mutant mtDNA support; no cardiomyopathy marker in Fig. 1 label |
| 1171 | 3243 | m.3243A\>G | A3243G\-F629 | A3243G\-F629\-P7 | Uninf | ND | Y | Y | ND | 3 yr | / | / | / | / | Pediatric mitochondrial disease with m.3243A\>G | Fig. 1 m.3243A\>G panel; exact heteroplasmy percentage is not inferred from bar width; Supplementary Table 2 unavailable; no cardiomyopathy marker in Fig. 1 label |
| 1172 | 3243 | m.3243A\>G | A3243G\-F629 | A3243G\-F629\-P8 | Uninf | ND | Y | Y | ND | 4 yr | / | / | / | / | Pediatric mitochondrial disease with m.3243A\>G | Fig. 1 m.3243A\>G panel; exact heteroplasmy percentage is not inferred from bar width; Supplementary Table 2 unavailable; no cardiomyopathy marker in Fig. 1 label |
| 1173 | 3243 | m.3243A\>G | A3243G\-F629 | A3243G\-F629\-P9 | Uninf | ND | Y | Y | ND | 7 yr | / | / | / | / | Pediatric mitochondrial disease with m.3243A\>G | Fig. 1 m.3243A\>G panel; exact heteroplasmy percentage is not inferred from bar width; Supplementary Table 2 unavailable; no cardiomyopathy marker in Fig. 1 label |
| 1174 | 3243 | m.3243A\>G | A3243G\-F629 | A3243G\-F629\-P10 | Uninf | ND | Y | Y | ND | 10 yr | / | / | / | / | Pediatric mitochondrial disease with m.3243A\>G | Fig. 1 m.3243A\>G panel; exact heteroplasmy percentage is not inferred from bar width; Supplementary Table 2 unavailable; no cardiomyopathy marker in Fig. 1 label |
| 1175 | 3243 | m.3243A\>G | A3243G\-F629 | A3243G\-F629\-P11 | Uninf | ND | Y | Y | ND | 12 yr | / | / | / | / | Pediatric mitochondrial disease with m.3243A\>G | Fig. 1 m.3243A\>G panel; exact heteroplasmy percentage is not inferred from bar width; Supplementary Table 2 unavailable; no cardiomyopathy marker in Fig. 1 label |
| 1176 | 3243 | m.3243A\>G | A3243G\-F629 | A3243G\-F629\-P12 | Uninf | M | Y | Y | A | 12 yr; alive 13 yr | / | / | / | / | Mitochondrial cardiomyopathy with HCM/WPW | Fig. 1 m.3243A\>G panel; exact heteroplasmy percentage is not inferred from bar width; Supplementary Table 2 unavailable. Table 3 gives MT\-TL1 m.3243A\>G and status; Fig. 1 shows blood mutant mtDNA and maternal blood mutant mtDNA support. |
| 1177 | 3243 | m.3243A\>G | A3243G\-F629 | A3243G\-F629\-P13 | Uninf | ND | Y | Y | ND | 13 yr | / | / | / | / | Pediatric mitochondrial disease with m.3243A\>G | Fig. 1 m.3243A\>G panel; exact heteroplasmy percentage is not inferred from bar width; Supplementary Table 2 unavailable; no cardiomyopathy marker in Fig. 1 label |
| 1178 | 3243 | m.3243A\>G | A3243G\-F629 | A3243G\-F629\-P14 | Uninf | ND | Y | Y | ND | 13 yr | / | / | / | / | Pediatric mitochondrial disease with m.3243A\>G | Fig. 1 m.3243A\>G panel; exact heteroplasmy percentage is not inferred from bar width; Supplementary Table 2 unavailable; no cardiomyopathy marker in Fig. 1 label |
| 1179 | 3243 | m.3243A\>G | A3243G\-F629 | A3243G\-F629\-P15 | Uninf | ND | Y | Y | ND | 14 yr | / | / | / | / | Pediatric mitochondrial disease with m.3243A\>G | Fig. 1 m.3243A\>G panel; exact heteroplasmy percentage is not inferred from bar width; Supplementary Table 2 unavailable. Fig. 1 also shows maternal blood mutant mtDNA support; no cardiomyopathy marker in Fig. 1 label |
| 1180 | 3243 | m.3243A\>G | A3243G\-F629 | A3243G\-F629\-P16 | Uninf | ND | Y | Y | ND | 14 yr | / | / | / | / | Pediatric mitochondrial disease with m.3243A\>G | Fig. 1 m.3243A\>G panel; exact heteroplasmy percentage is not inferred from bar width; Supplementary Table 2 unavailable; no cardiomyopathy marker in Fig. 1 label |
| 1181 | 3243 | m.3243A\>G | A3243G\-F630 | A3243G\-F630\-P1 | Uninf | M | Y | Y | ND | onset 14 | / | / | / | / | MELAS: seizures, psychosis/confusion/behavior change, hemiparesis, muscle weakness, headache/vomiting, lactic acidosis, MRI changes | / |
| 1182 | 3243 | m.3243A\>G | A3243G\-F631 | A3243G\-F631\-P2 | Uninf | M | Y | Y | ND | onset 12 | / | / | / | / | MELAS: seizures, psychosis/behavior change, dementia, hemiparesis, weakness, vomiting, preceding infection, lactic acidosis, MRI changes | / |
| 1183 | 3243 | m.3243A\>G | A3243G\-F632 | A3243G\-F632\-P1 | Uninf | F | Y | Y | A | 24 | / | / | / | 65%(ND) | Isolated mitochondrial myopathy; Exercise intolerance; Myalgia; Elevated resting plasma lactate; Few ragged\-red fibers | / |
| 1184 | 3243 | m.3243A\>G | A3243G\-F633 | A3243G\-F633\-P1 | Uninf | F | Y | Y | D | 0 d; died 2 mo | / | / | / | 90%(F) | Died of heart failure at 2 months | Averaged skin fibroblast heteroplasmy by mtscATAC\-seq/single\-cell analysis; Mitochondrial cardiomyopathy with fetal/neonatal hypertrophic cardiomyopathy, lactic acidosis, mild hepatomegaly |
| 1185 | 3243 | m.3243A\>G | A3243G\-F634 | A3243G\-F634\-P1 | Uninf | M | Y | Y | D | 5 mo; died 10 y | / | / | / | 40%(F) | MELAS; Developmental delay, stroke\-like episodes, ragged\-red fibers on muscle biopsy, cardiac hypertrophy and ventricular noncompaction, recurrent infection/gastroenteritis; Died of uremic acidosis and heart failure | Averaged skin fibroblast heteroplasmy by mtscATAC\-seq/single\-cell analysis. |
| 1186 | 3243 | m.3243A\>G | A3243G\-F635 | A3243G\-F635\-P1 | Uninf | M | Y | Y | A | 10 y; alive 22 y | / | / | / | 41%(F) | MELAS with stroke\-like episodes, seizures, cognitive impairment, diabetes, moderate sensorineural hearing loss, ptosis and cortical blindness; Became bedridden and required tube feeding | Text reports m.3243A\>G present in blood; averaged skin fibroblast heteroplasmy by mtscATAC\-seq/single\-cell analysis. |
| 1187 | 3243 | m.3243A\>G | A3243G\-F636 | A3243G\-F636\-P1 | Fam | F | Y | Y | A | 14 y; alive 24 y | / | / | / | 47%(ND) | MIDD with deafness, insulin\-resistant diabetes, short stature and mild proteinuria; Acute lymphocytic leukemia also reported | Non\-cancer MIDD features make the target entry eligible. Family history is used for G/H only; relatives are untested for target mtDNA and are not carrier rows. |
| 1188 | 3243 | m.3243A\>G | A3243G\-F637 | A3243G\-F637\-P1 | Fam | F | Y | Y | D | 13 y; died 21 y | / | / | / | 43%(ND) | MELAS; Short stature, stroke\-like episodes with abnormal MRI and lactate peak on MR spectroscopy; Died of sudden cardiac death at 21 years | Family biochemical/clinical history is used for G/H only; siblings are untested for target mtDNA and are not carrier rows. |
| 1189 | 3243 | m.3243A\>G | A3243G\-F638 | A3243G\-F638\-P1 | Uninf | F | Y | Y | A | 3 y; alive 20 y | / | / | / | 12%(F) | Leigh syndrome; Developmental delay, short stature, stroke\-like episodes, basal ganglia MRI abnormalities, visual impairment and recurrent nausea/vomiting; Improved episode severity with arginine/taurine | Averaged skin fibroblast heteroplasmy by mtscATAC\-seq/single\-cell analysis. |
| 1190 | 3243 | m.3243A\>G | A3243G\-F639 | A3243G\-F639\-P1 | Uninf | M | Y | Y | A | ND | 7% | / | / | / | MELAS syndrome | Independent Venezuelan case; mother urine negative. |
| 1191 | 3243 | m.3243A\>G | A3243G\-F640 | A3243G\-F640\-P2 | Uninf | F | Y | Y | A | ND | 41% | / | 94% | / | MELAS syndrome | Relatives declined testing. |
| 1192 | 3243 | m.3243A\>G | A3243G\-F641 | A3243G\-F641\-P3 | Uninf | M | Y | Y | A | ND | / | / | / | / | MELAS syndrome | Mother and siblings negative in tested tissues. |
| 1193 | 3243 | m.3243A\>G | A3243G\-F642 | A3243G\-F642\-P92 | Uninf | ND | ND | ND | ND | ND | / | / | / | / | Mitochondrial disease; M.3243A\>G/MT\-TL1; Possible cardiac tissue relevance discussed | P92; m.3243A\>G patient with muscle DNA available, but exact tissue load is not reported in the supplied evidence. Mother was tested and the variant was not detected. |
| 1194 | 3243 | m.3243A\>G | A3243G\-F643 | A3243G\-F643\-P93 | Uninf | ND | ND | ND | ND | ND | / | / | / | / | Mitochondrial disease; M.3243A\>G/MT\-TL1 | P93; buccal mucosa sample was studied and m.3243A\>G was detected, but no exact load is reported in the supplied evidence. |
| 1195 | 3243 | m.3243A\>G | A3243G\-F644 | A3243G\-F644\-P95 | Uninf | ND | ND | ND | ND | ND | / | / | / | / | Mitochondrial disease; M.3243A\>G/MT\-TL1; Possible kidney tissue relevance discussed | P95; named in the m.3243A\>G discussion, but exact tested tissue and load are not reported in the supplied evidence. |
| 1196 | 3243 | m.3243A\>G | A3243G\-F645 | A3243G\-F645\-III3 | Fam | M | N | N | A | ND | 84\.45% | / | / | / | Increased heart rate occasionally; Otherwise reported normal | Table 1/Figure 1; all family members also carried homoplasmic m.3290T\>C according to the article. |
| 1197 | 3243 | m.3243A\>G | A3243G\-F645 | A3243G\-F645\-IV2 | Fam | F | N | N | A | 47 | 86\.90% | / | / | 77\.89%(ND) | Reported normal | Table 1/Figure 1; all family members also carried homoplasmic m.3290T\>C according to the article. |
| 1198 | 3243 | m.3243A\>G | A3243G\-F645 | A3243G\-F645\-IV3 | Fam | M | N | Y | A | 46 | 80\.20% | / | / | / | Hypertension, tachycardia and liver cirrhosis; Returned to normal after treatment | Table 1/Figure 1; all family members also carried homoplasmic m.3290T\>C according to the article. |
| 1199 | 3243 | m.3243A\>G | A3243G\-F645 | A3243G\-F645\-IV6 | Fam | F | N | N | A | ND | 30\.75% | / | / | 31\.30%(ND) | Reported normal | Table 1/Figure 1; all family members also carried homoplasmic m.3290T\>C according to the article. |
| 1200 | 3243 | m.3243A\>G | A3243G\-F645 | A3243G\-F645\-IV7 | Fam | F | N | N | A | ND | 29\.70% | / | / | 28\.80%(ND) | Reported normal | Table 1/Figure 1; all family members also carried homoplasmic m.3290T\>C according to the article. |
| 1201 | 3243 | m.3243A\>G | A3243G\-F645 | A3243G\-F645\-V1 | Fam | F | N | N | A | 27 | 88\.87% | / | / | 88\.95%(ND); 88\.87%(ND) | Reported normal | Table 1/Figure 1; all family members also carried homoplasmic m.3290T\>C according to the article; Mother of proband |
| 1202 | 3243 | m.3243A\>G | A3243G\-F645 | A3243G\-F645\-V2 | Fam | M | N | N | A | 24 | 66\.00% | / | / | 76\.35%(ND) | Reported normal | Table 1/Figure 1; all family members also carried homoplasmic m.3290T\>C according to the article. |
| 1203 | 3243 | m.3243A\>G | A3243G\-F645 | A3243G\-F645\-VI1 | Fam | M | Y | Y | D | 2\.5 | 98\.43% | / | / | / | MELAS onset at 20 days with dyspnea and pneumonia; Died of heart failure at 2\.5 years | Table 1/Figure 1; all family members also carried homoplasmic m.3290T\>C according to the article. |
| 1204 | 3243 | m.3243A\>G | A3243G\-F645 | A3243G\-F645\-III4 | Fam | M | N | N | A | ND | 0 | / | / | / | Reported normal | Eligible negative\-tested maternal\-line record; tested tissue result is recorded as 0 and the branch is a stop for downstream extension; blood m.3243A\>G not detected |
| 1205 | 3243 | m.3243A\>G | A3243G\-F645 | A3243G\-F645\-IV4 | Fam | F | N | N | A | ND | 0 | / | / | 0%(BM) | Reported normal | Eligible negative\-tested maternal\-line record; tested tissue result is recorded as 0 and the branch is a stop for downstream extension; blood and buccal mucosa m.3243A\>G not detected |
| 1206 | 3243 | m.3243A\>G | A3243G\-F645 | A3243G\-F645\-V3 | Fam | F | N | N | A | ND | 0 | / | / | 0%(BM) | Reported normal | Eligible negative\-tested maternal\-line record; tested tissue result is recorded as 0 and the branch is a stop for downstream extension; blood and buccal mucosa m.3243A\>G not detected |
| 1207 | 3243 | m.3243A\>G | A3243G\-F646 | A3243G\-F646\-P1 | Uninf | F | ND | Y | ND | 35 | 55% | 87% | 85% | / | Hypoacusia; Diabetes; Myopathy | Uninf cohort carrier; age is age at first EEG observation T1; Onset\=23y.; P1; Progressive encephalopathy in m.3243A \> G/MT\-TL1 mutation carriers: a quantitative EEG analysis. |
| 1208 | 3243 | m.3243A\>G | A3243G\-F647 | A3243G\-F647\-P2 | Uninf | M | ND | Y | ND | 28 | 58% | / | 96% | / | Epilepsy; Status epilepticus; Stroke\-like episode; Diabetes; Myopathy; Migraine; Cognitive impairment | Uninf cohort carrier; age is age at first EEG observation T1; Onset\=childhood.; P2; Progressive encephalopathy in m.3243A \> G/MT\-TL1 mutation carriers: a quantitative EEG analysis. |
| 1209 | 3243 | m.3243A\>G | A3243G\-F648 | A3243G\-F648\-P3 | Uninf | F | ND | Y | ND | 39 | 46% | 61% | / | / | Myopathy; Cognitive impairment | Uninf cohort carrier; age is age at first EEG observation T1; Onset\=childhood.; P3; Progressive encephalopathy in m.3243A \> G/MT\-TL1 mutation carriers: a quantitative EEG analysis. |
| 1210 | 3243 | m.3243A\>G | A3243G\-F649 | A3243G\-F649\-P4 | Uninf | F | ND | Y | ND | 22 | 100% | 90% | 22% | / | Epilepsy; Status epilepticus; Stroke\-like episode; Hypoacusia; Migraine | Uninf cohort carrier; age is age at first EEG observation T1; Onset\=unknown.; P4; Progressive encephalopathy in m.3243A \> G/MT\-TL1 mutation carriers: a quantitative EEG analysis. |
| 1211 | 3243 | m.3243A\>G | A3243G\-F650 | A3243G\-F650\-P5 | Uninf | F | ND | Y | ND | 59 | 57% | / | 88% | / | Epilepsy; Status epilepticus; Stroke\-like episode; Hypoacusia; Diabetes | Uninf cohort carrier; age is age at first EEG observation T1; Onset\=unknown.; P5; Progressive encephalopathy in m.3243A \> G/MT\-TL1 mutation carriers: a quantitative EEG analysis. |
| 1212 | 3243 | m.3243A\>G | A3243G\-F651 | A3243G\-F651\-P6 | Uninf | F | ND | Y | ND | 34 | 43% | 71% | 65% | / | Epilepsy; Hypoacusia; Diabetes; Myopathy; Migraine | Uninf cohort carrier; age is age at first EEG observation T1; Onset\=18y.; P6; Progressive encephalopathy in m.3243A \> G/MT\-TL1 mutation carriers: a quantitative EEG analysis. |
| 1213 | 3243 | m.3243A\>G | A3243G\-F652 | A3243G\-F652\-P7 | Uninf | F | ND | Y | ND | 40 | 51% | 73% | 70% | / | Hypoacusia; Diabetes | Uninf cohort carrier; age is age at first EEG observation T1; Onset\=15y.; P7; Progressive encephalopathy in m.3243A \> G/MT\-TL1 mutation carriers: a quantitative EEG analysis. |
| 1214 | 3243 | m.3243A\>G | A3243G\-F653 | A3243G\-F653\-P8 | Uninf | M | ND | Y | ND | 42 | 64% | 78% | / | / | Epilepsy; Stroke\-like episode; Hypoacusia; Diabetes; Myopathy | Uninf cohort carrier; age is age at first EEG observation T1; Onset\=15y.; P8; Progressive encephalopathy in m.3243A \> G/MT\-TL1 mutation carriers: a quantitative EEG analysis. |
| 1215 | 3243 | m.3243A\>G | A3243G\-F654 | A3243G\-F654\-P9 | Uninf | M | ND | Y | ND | 36 | 39% | / | 8% | / | Migraine | Uninf cohort carrier; age is age at first EEG observation T1; Onset\=unknown.; P9; Progressive encephalopathy in m.3243A \> G/MT\-TL1 mutation carriers: a quantitative EEG analysis. |
| 1216 | 3243 | m.3243A\>G | A3243G\-F655 | A3243G\-F655\-P10 | Uninf | M | ND | Y | ND | 28 | 13% | 78% | 80% | / | Epilepsy; Status epilepticus; Stroke\-like episode; Hypoacusia; Myopathy; Cognitive impairment | Uninf cohort carrier; age is age at first EEG observation T1; Onset\=18y.; P10; Progressive encephalopathy in m.3243A \> G/MT\-TL1 mutation carriers: a quantitative EEG analysis. |
| 1217 | 3243 | m.3243A\>G | A3243G\-F656 | A3243G\-F656\-P11 | Uninf | F | ND | Y | ND | 56 | 5% | 35% | 16% | / | Epilepsy; Status epilepticus; Stroke\-like episode; Diabetes; Myopathy; Migraine | Uninf cohort carrier; age is age at first EEG observation T1; Onset\=childhood.; P11; Progressive encephalopathy in m.3243A \> G/MT\-TL1 mutation carriers: a quantitative EEG analysis. |
| 1218 | 3243 | m.3243A\>G | A3243G\-F657 | A3243G\-F657\-P12 | Uninf | F | ND | Y | ND | 64 | 18% | 72% | 54% | / | Hypoacusia; Diabetes; Myopathy | Uninf cohort carrier; age is age at first EEG observation T1; Onset\=24y.; P12; Progressive encephalopathy in m.3243A \> G/MT\-TL1 mutation carriers: a quantitative EEG analysis. |
| 1219 | 3243 | m.3243A\>G | A3243G\-F658 | A3243G\-F658\-P13 | Uninf | M | ND | Y | ND | 54 | 5% | 46% | / | / | Hypoacusia; Diabetes; Myopathy | Uninf cohort carrier; age is age at first EEG observation T1; Onset\=childhood.; P13; Progressive encephalopathy in m.3243A \> G/MT\-TL1 mutation carriers: a quantitative EEG analysis. |
| 1220 | 3243 | m.3243A\>G | A3243G\-F659 | A3243G\-F659\-P14 | Uninf | M | ND | Y | ND | 42 | 50% | 55% | 70% | / | Hypoacusia; Diabetes; Myopathy; Migraine | Uninf cohort carrier; age is age at first EEG observation T1; Onset\=childhood.; P14; Progressive encephalopathy in m.3243A \> G/MT\-TL1 mutation carriers: a quantitative EEG analysis. |
| 1221 | 3243 | m.3243A\>G | A3243G\-F660 | A3243G\-F660\-P15 | Uninf | M | ND | Y | ND | 57 | 45% | 72% | 50% | / | Hypoacusia; Diabetes; Myopathy | Uninf cohort carrier; age is age at first EEG observation T1; Onset\=childhood.; P15; Progressive encephalopathy in m.3243A \> G/MT\-TL1 mutation carriers: a quantitative EEG analysis. |
| 1222 | 3243 | m.3243A\>G | A3243G\-F661 | A3243G\-F661\-P16 | Uninf | F | ND | Y | ND | 47 | 47% | 70% | 37% | / | Epilepsy; Stroke\-like episode; Hypoacusia; Diabetes | Uninf cohort carrier; age is age at first EEG observation T1; Onset\=unknown.; P16; Progressive encephalopathy in m.3243A \> G/MT\-TL1 mutation carriers: a quantitative EEG analysis. |
| 1223 | 3243 | m.3243A\>G | A3243G\-F662 | A3243G\-F662\-P1 | Uninf | ND | Y | Y | ND | ND | 40\-50% | / | / | / | MELAS | Original subject label: MT\-28\. |

For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).