A8344G

# General Information

| **Position** | **8344** | **Variant** | **m.8344A\>G** | **Locus** | **MT\-TK** | **RNA** | **tRNA Lys** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **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.8344A\>G** variant in MT\-TK has been reported in 146 pedigrees. To date, 353 carriers have been reported. Reported mutation loads ranged from 0% to 100%, with a median of 75% overall; affected carriers showed mutation loads from 0% to 100%, with a median of 81%; unaffected carriers showed mutation loads from 0% to 92%, with a median of 50%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in blood (82%), muscle (84%), and hair (72%) than in fibroblasts (31%). In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (90%), cerebellum (85%), cerebrum (90%), and liver (97%) than in pancreas (42%). Similar tissue\-specific differences were observed in 12 additional carriers. The main clinical manifestations among affected carriers included ataxia, myoclonus, MERRF, seizures, myopathy, hearing loss, exercise intolerance, deafness, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 8344 | m.8344A\>G | [A8344G\-F1](https://mitofam.com/doc/1242/) | USA | MERRF with maternal transmission; variable myoclonus, myopathy, hearing loss, subclinical EEG/VER findings | 1 | 7 | 1990 | [2112427](https://pubmed.ncbi.nlm.nih.gov/2112427/) | Figure 1 provides muscle mutant percentages for nine eligible target\-positive case\-I maternal\-line/case\-family subjects. III\-3 is counted as unaffected because text says no overt clinical symptoms and normal muscle histology/OXPHOS/exercise capacity; paternal 0% relatives III\-4/III\-5/III\-6 are excluded. |
| 2 | 8344 | m.8344A\>G | A8344G\-F2 | USA | MERRF | 0 | 0 | 1990 | [2112427](https://pubmed.ncbi.nlm.nih.gov/2112427/) | Isolated Case II male proband; no informative maternal pedigree in this PDF. |
| 3 | 8344 | m.8344A\>G | A8344G\-F3 | USA | MERRF | 0 | 0 | 1990 | [2112427](https://pubmed.ncbi.nlm.nih.gov/2112427/) | Isolated Case III female proband; no informative maternal pedigree in this PDF. |
| 4 | 8344 | m.8344A\>G |[ A8344G\-F4](https://mitofam.com/doc/1243/) | French | MERRF/cardiomyopathy/myopathy | 5 | 2 | 1991 | [1661776](https://pubmed.ncbi.nlm.nih.gov/1661776/) | Fig.4 values read from rendered page image; approximate printed labels. |
| 5 | 8344 | m.8344A\>G | A8344G\-F5 | Germany | Ptosis and myopathy | 0 | 0 | 1991 | [1709275](https://pubmed.ncbi.nlm.nih.gov/1709275/) | lane 6; no family relationships reported. |
| 6 | 8344 | m.8344A\>G | A8344G\-F6 | Germany | MERRF | 0 | 0 | 1991 | [1709275](https://pubmed.ncbi.nlm.nih.gov/1709275/) | lane 7; no family relationships reported. Kept separate from lanes 8/9 rather than forcing unrelated samples into one family. |
| 7 | 8344 | m.8344A\>G | A8344G\-F7 | Germany | MERRF | 0 | 0 | 1991 | [1709275](https://pubmed.ncbi.nlm.nih.gov/1709275/) | lane 8; no family relationships reported. Kept as separate singleton sample. |
| 8 | 8344 | m.8344A\>G | A8344G\-F8 | Germany | MERRF | 0 | 0 | 1991 | [1709275](https://pubmed.ncbi.nlm.nih.gov/1709275/) | lane 9; no family relationships reported. Kept as separate singleton sample. |
| 9 | 8344 | m.8344A\>G | [A8344G\-F9](https://mitofam.com/doc/1244/) | Italy | MERRF spectrum; severe and incomplete/subclinical cases | 4 | 1 | 1991 | [1899320](https://pubmed.ncbi.nlm.nih.gov/1899320/) | Pedigree 1; Table 1 A\-G status controls inclusion. Pedigrees 6/7 and 8170567 duplicate/support are excluded. |
| 10 | 8344 | m.8344A\>G | [A8344G\-F10 ](https://mitofam.com/doc/1245/)| Italy | MERRF with asymptomatic heteroplasmic brother | 1 | 0 | 1991 | [1899320](https://pubmed.ncbi.nlm.nih.gov/1899320/) | Pedigree 2; Table 1 A\-G status controls inclusion. Pedigrees 6/7 and 8170567 duplicate/support are excluded. |
| 11 | 8344 | m.8344A\>G | A8344G\-F11 | Italy | MERRF | 0 | 0 | 1991 | [1899320](https://pubmed.ncbi.nlm.nih.gov/1899320/) | Pedigree 3; Table 1 A\-G status controls inclusion. Pedigrees 6/7 and 8170567 duplicate/support are excluded. |
| 12 | 8344 | m.8344A\>G | A8344G\-F12 | Italy | MERRF with apparently normal children | 0 | 0 | 1991 | [1899320](https://pubmed.ncbi.nlm.nih.gov/1899320/) | Pedigree 4; Table 1 A\-G status controls inclusion. Pedigrees 6/7 and 8170567 duplicate/support are excluded. |
| 13 | 8344 | m.8344A\>G | A8344G\-F13 | Italy | MERRF | 0 | 0 | 1991 | [1899320](https://pubmed.ncbi.nlm.nih.gov/1899320/) | Pedigree 5; Table 1 A\-G status controls inclusion. Pedigrees 6/7 and 8170567 duplicate/support are excluded. |
| 14 | 8344 | m.8344A\>G | A8344G\-F14 | Australia | MERRF | 0 | 0 | 1991 | [1910259](https://pubmed.ncbi.nlm.nih.gov/1910259/) | SVR84\-3; sequencing\-confirmed A8344G subject. |
| 15 | 8344 | m.8344A\>G | A8344G\-F15 | Australia | MERRF | 0 | 0 | 1991 | [1910259](https://pubmed.ncbi.nlm.nih.gov/1910259/) | SVR88\-3; sequencing\-confirmed A8344G subject. |
| 16 | 8344 | m.8344A\>G | A8344G\-F16 | Australia | MERRF | 0 | 1 | 1991 | [1910259](https://pubmed.ncbi.nlm.nih.gov/1910259/) | SVR87\-2; sequencing\-confirmed A8344G subject. |
| 17 | 8344 | m.8344A\>G | A8344G\-F17 | Japanese | MERRF | 0 | 0 | 1991 | [1910341](https://pubmed.ncbi.nlm.nih.gov/1910341/) | ND |
| 18 | 8344 | m.8344A\>G | A8344G\-F18 | Japanese | MERRF | 0 | 0 | 1991 | [1910341](https://pubmed.ncbi.nlm.nih.gov/1910341/) | ND |
| 19 | 8344 | m.8344A\>G | [A8344G\-F19](https://mitofam.com/doc/1246/) | Japanese | MERRF | 0 | 1 | 1991 | [1910341](https://pubmed.ncbi.nlm.nih.gov/1910341/) | ND |
| 20 | 8344 | m.8344A\>G | A8344G\-F20 | Japanese | MERRF | 0 | 0 | 1991 | [1910341](https://pubmed.ncbi.nlm.nih.gov/1910341/) | ND |
| 21 | 8344 | m.8344A\>G | [A8344G\-F21 ](https://mitofam.com/doc/1247/)| French | MERRF | 3 | 5 | 1992 | [1324294](https://pubmed.ncbi.nlm.nih.gov/1324294/) | Two quantitation methods preserved as visible ranges. |
| 22 | 8344 | m.8344A\>G | A8344G\-F22 | Canadian | MERRF/myopathy with lipomas | 0 | 0 | 1992 | [1334369](https://pubmed.ncbi.nlm.nih.gov/1334369/) | ND |
| 23 | 8344 | m.8344A\>G |[ A8344G\-F23](https://mitofam.com/doc/1248/) | Canadian | MERRF | 0 | 1 | 1992 | [1334369](https://pubmed.ncbi.nlm.nih.gov/1334369/) | ND |
| 24 | 8344 | m.8344A\>G | A8344G\-F24 | Canadian | MERRF/PEO\-lipoma spectrum | 0 | 0 | 1992 | [1334369](https://pubmed.ncbi.nlm.nih.gov/1334369/) | ND |
| 25 | 8344 | m.8344A\>G | A8344G\-F25 | Finland | Progressive external ophthalmoplegia; myopathy; cervical lipoma | 0 | 0 | 1992 | [1431990](https://pubmed.ncbi.nlm.nih.gov/1431990/) | Patient 3; no family history reported; A8344G plus A8512G polymorphism; \~90% mutated mtDNA estimated from autoradiograph. |
| 26 | 8344 | m.8344A\>G | A8344G\-F26 | Finland | MERRF; congenital hypotonia; weakness | 1 | 1 | 1992 | [1431990](https://pubmed.ncbi.nlm.nih.gov/1431990/) | Patient 5 is target\-positive; mother is asymptomatic and sister has delayed motor development/weakness/RRF but neither relative is molecularly tested in the paper. Mother and sister are counted only for G/H by the mother\-level inference rule, not entered as carrier rows. |
| 27 | 8344 | m.8344A\>G | [A8344G\-F27](https://mitofam.com/doc/1249/) | Finland | MERRF spectrum | 0 | 2 | 1992 | [1431990](https://pubmed.ncbi.nlm.nih.gov/1431990/) | Patient 6 and her daughter patient 7 and son patient 8 are all mutation\-positive; no exact heteroplasmy load is reported. |
| 28 | 8344 | m.8344A\>G |[ A8344G\-F28](https://mitofam.com/doc/1250/) | Sweden | MERRF spectrum; multiple symmetric lipomatosis/senile dementia noted in some maternal relatives | 15 | 7 | 1992 | [1463006](https://pubmed.ncbi.nlm.nih.gov/1463006/) | Family A; G/H from Figure 1 maternal\-line eligibility; branch\-stop negatives included where eligible. |
| 29 | 8344 | m.8344A\>G | [A8344G\-F29](https://mitofam.com/doc/1251/) | Sweden | MERRF spectrum with asymptomatic/high\-load maternal relatives | 6 | 1 | 1992 | [1463006](https://pubmed.ncbi.nlm.nih.gov/1463006/) | Family B; G/H from Figure 1 maternal\-line eligibility; branch\-stop negatives included where eligible. |
| 30 | 8344 | m.8344A\>G | A8344G\-F30 | Sweden | MERRF | 0 | 0 | 1992 | [1463006](https://pubmed.ncbi.nlm.nih.gov/1463006/) | Family C; G/H from Figure 1 maternal\-line eligibility; branch\-stop negatives included where eligible. |
| 31 | 8344 | m.8344A\>G | A8344G\-F31 | Australian | MERRF | 0 | 0 | 1992 | [1487239](https://pubmed.ncbi.nlm.nih.gov/1487239/) | Likely same as SVR88\-3 in PMID 1910259\. |
| 32 | 8344 | m.8344A\>G | A8344G\-F32 | ND | MERRF | 0 | 0 | 1992 | [1606473](https://pubmed.ncbi.nlm.nih.gov/1606473/) | No age/sex/percentage mappable. |
| 33 | 8344 | m.8344A\>G |[ A8344G\-F33 ](https://mitofam.com/doc/1252/)| Italy | MERRF spectrum | 4 | 3 | 1993 | [8170567](https://pubmed.ncbi.nlm.nih.gov/8170567/) | Pedigree 1; Figure 1\-first review. Caption\-defined black/shaded/dotted positive symbols entered; Pedigree 11 treated as Zeviani duplicate/support. |
| 34 | 8344 | m.8344A\>G | [A8344G\-F34](https://mitofam.com/doc/1253/) | Italy | MERRF spectrum | 0 | 2 | 1993 | [8170567](https://pubmed.ncbi.nlm.nih.gov/8170567/) | Pedigree 2; Figure 1\-first review. Caption\-defined black/shaded/dotted positive symbols entered; Pedigree 11 treated as Zeviani duplicate/support. |
| 35 | 8344 | m.8344A\>G | [A8344G\-F35](https://mitofam.com/doc/1254) | Italy | MERRF spectrum | 0 | 1 | 1993 | [8170567](https://pubmed.ncbi.nlm.nih.gov/8170567/) | Pedigree 3; Figure 1\-first review. Caption\-defined black/shaded/dotted positive symbols entered; Pedigree 11 treated as Zeviani duplicate/support. |
| 36 | 8344 | m.8344A\>G | [A8344G\-F36](https://mitofam.com/doc/1255/) | Italy | MERRF spectrum | 1 | 0 | 1993 | [8170567](https://pubmed.ncbi.nlm.nih.gov/8170567/) | Pedigree 4; Figure 1\-first review. Caption\-defined black/shaded/dotted positive symbols entered; Pedigree 11 treated as Zeviani duplicate/support. |
| 37 | 8344 | m.8344A\>G |[ A8344G\-F37](https://mitofam.com/doc/1256/) | Italy | MERRF spectrum | 1 | 2 | 1993 | [8170567](https://pubmed.ncbi.nlm.nih.gov/8170567/) | Pedigree 5; Figure 1\-first review. Caption\-defined black/shaded/dotted positive symbols entered; Pedigree 11 treated as Zeviani duplicate/support. |
| 38 | 8344 | m.8344A\>G |[ A8344G\-F38](https://mitofam.com/doc/1257/) | Italy | MERRF spectrum | 2 | 1 | 1993 | [8170567](https://pubmed.ncbi.nlm.nih.gov/8170567/) | Pedigree 6; Figure 1\-first review. Caption\-defined black/shaded/dotted positive symbols entered; Pedigree 11 treated as Zeviani duplicate/support. |
| 39 | 8344 | m.8344A\>G | [A8344G\-F39](https://mitofam.com/doc/1258/) | Italy | MERRF spectrum | 0 | 1 | 1993 | [8170567](https://pubmed.ncbi.nlm.nih.gov/8170567/) | Pedigree 7; Figure 1\-first review. Caption\-defined black/shaded/dotted positive symbols entered; Pedigree 11 treated as Zeviani duplicate/support. |
| 40 | 8344 | m.8344A\>G | A8344G\-F40 | Italy | MERRF spectrum | 0 | 0 | 1993 | [8170567](https://pubmed.ncbi.nlm.nih.gov/8170567/) | Pedigree 8; Figure 1\-first review. Caption\-defined black/shaded/dotted positive symbols entered; Pedigree 11 treated as Zeviani duplicate/support. |
| 41 | 8344 | m.8344A\>G | [A8344G\-F41](https://mitofam.com/doc/1259/) | Italy | MERRF spectrum | 0 | 1 | 1993 | [8170567](https://pubmed.ncbi.nlm.nih.gov/8170567/) | Pedigree 9; Figure 1\-first review. Caption\-defined black/shaded/dotted positive symbols entered; Pedigree 11 treated as Zeviani duplicate/support. |
| 42 | 8344 | m.8344A\>G | [A8344G\-F42 ](https://mitofam.com/doc/1260/)| Italy | MERRF spectrum | 2 | 0 | 1993 | [8170567](https://pubmed.ncbi.nlm.nih.gov/8170567/) | Pedigree 10; Figure 1\-first review. Caption\-defined black/shaded/dotted positive symbols entered; Pedigree 11 treated as Zeviani duplicate/support. |
| 43 | 8344 | m.8344A\>G | [A8344G\-F43](https://mitofam.com/doc/1261/) | Japanese | MERRF | 0 | 1 | 1993 | [8228033](https://pubmed.ncbi.nlm.nih.gov/8228033/) | No heteroplasmy percentage. |
| 44 | 8344 | m.8344A\>G | [A8344G\-F44](https://mitofam.com/doc/1262/) | France | MERRF | 1 | 0 | 1993 | [8386419](https://pubmed.ncbi.nlm.nih.gov/8386419/) | Patient 16 family; only daughter has blood\-lymphocyte mutation evidence and is counted as unaffected maternal relative. Several sisters are not individually entered because count/labels are unresolved. |
| 45 | 8344 | m.8344A\>G | [A8344G\-F45](https://mitofam.com/doc/1263/) | France | MERRF | 0 | 1 | 1993 | [8386419](https://pubmed.ncbi.nlm.nih.gov/8386419/) | Patient 17 family/brother; text is internally inconsistent about whether the brother belongs to Patient 16 or 17, so one brother row is retained with an explicit caveat. |
| 46 | 8344 | m.8344A\>G | [A8344G\-F46](https://mitofam.com/doc/1264/) | USA | MERRF | 0 | 2 | 1993 | [8388680](https://pubmed.ncbi.nlm.nih.gov/8388680/) | ND |
| 47 | 8344 | m.8344A\>G | [A8344G\-F47](https://mitofam.com/doc/1265/) | USA | Myopathy/cardiomyopathy with MERRF mutation | 0 | 1 | 1993 | [8388680](https://pubmed.ncbi.nlm.nih.gov/8388680/) | Patient 5 mother molecularly confirmed A8344G; Patient 4 affected son had no frozen mtDNA tissue and is included as untested child of target\-positive mother; Patient 6 sudden death not entered. |
| 48 | 8344 | m.8344A\>G |[ A8344G\-F48](https://mitofam.com/doc/1266/) | Swedish | MERRF / multiple symmetric lipomas | 0 | 2 | 1993 | [8447321](https://pubmed.ncbi.nlm.nih.gov/8447321/) | No formal pedigree figure. The family relationship is described in the case report. |
| 49 | 8344 | m.8344A\>G | [A8344G\-F49 ](https://mitofam.com/doc/1267/)| German | MERRF / maternally inherited myoclonus epilepsy | 2 | 2 | 1993 | [8454287](https://pubmed.ncbi.nlm.nih.gov/8454287/) | Earlier affected relatives without molecular mapping are not entered. |
| 50 | 8344 | m.8344A\>G | A8344G\-F50 | United Kingdom | MERRF; myoclonus, ataxia, seizures, limb weakness, dementia/deafness/ophthalmoplegia | 0 | 0 | 1993 | [8513395](https://pubmed.ncbi.nlm.nih.gov/8513395/) | Case 12; G/H from Figure 2/Table 1 maternal\-line review. minimum supported; clinical\-only relatives unresolved |
| 51 | 8344 | m.8344A\>G | [A8344G\-F51](https://mitofam.com/doc/1268/) | United Kingdom | MERRF/Leigh syndrome in proband; asymptomatic positive mother and maternal uncle | 2 | 0 | 1993 | [8513395](https://pubmed.ncbi.nlm.nih.gov/8513395/) | Pedigree 97; G/H from Figure 2/Table 1 maternal\-line review. minimum supported; one untested child candidate |
| 52 | 8344 | m.8344A\>G | A8344G\-F52 | United Kingdom | MERRF | 0 | 0 | 1993 | [8513395](https://pubmed.ncbi.nlm.nih.gov/8513395/) | Pedigree/Case 98; G/H from Figure 2/Table 1 maternal\-line review. minimum supported; clinical\-only relatives unresolved |
| 53 | 8344 | m.8344A\>G | [A8344G\-F53 ](https://mitofam.com/doc/1269/)| United Kingdom | MERRF spectrum | 3 | 1 | 1993 | [8513395](https://pubmed.ncbi.nlm.nih.gov/8513395/) | Pedigree 99; G/H from Figure 2/Table 1 maternal\-line review. supported from Table 1/Fig. 2 |
| 54 | 8344 | m.8344A\>G | [A8344G\-F54](https://mitofam.com/doc/1270/) | United Kingdom | MERRF spectrum with high\-load symptomatic and asymptomatic offspring | 3 | 1 | 1993 | [8513395](https://pubmed.ncbi.nlm.nih.gov/8513395/) | Pedigree 100; G/H from Figure 2/Table 1 maternal\-line review. minimum supported plus Table 3 expansion |
| 55 | 8344 | m.8344A\>G |[ A8344G\-F55](https://mitofam.com/doc/1271) | United Kingdom | MERRF spectrum | 1 | 2 | 1993 | [8513395](https://pubmed.ncbi.nlm.nih.gov/8513395/) | Pedigree 101; G/H from Figure 2/Table 1 maternal\-line review. requires adding negative\-tested branch stop |
| 56 | 8344 | m.8344A\>G | [A8344G\-F56](https://mitofam.com/doc/1272) | United Kingdom | MERRF spectrum with ataxia/neuropathy/optic atrophy/stroke\-like episodes | 0 | 3 | 1993 | [8513395](https://pubmed.ncbi.nlm.nih.gov/8513395/) | Pedigree 122; G/H from Figure 2/Table 1 maternal\-line review. supported from Table 1/Fig. 2; no mechanical carrier\-row count |
| 57 | 8344 | m.8344A\>G | [A8344G\-F57](https://mitofam.com/doc/1273) | Japanese | Diabetes with m.8344A\>G / MERRF\-spectrum disease | 1 | 5 | 1994 | [7882812](https://pubmed.ncbi.nlm.nih.gov/7882812/) | Seven mutation\-positive members were identified in a three\-generation maternal pedigree. Nonmutated relatives in Fig. 1/Fig. 2 were not entered as carriers. |
| 58 | 8344 | m.8344A\>G | A8344G\-F58 | United Kingdom | MERRF / cortical reflex myoclonus | 0 | 0 | 1994 | [8006688](https://pubmed.ncbi.nlm.nih.gov/8006688/) | New family 123 index patient from five\-patient electrophysiology series; cases from families 99 and 101 are support/duplicate rows already detailed in PMID 8513395\. Family 123 relatives are clinical\-only and untested. |
| 59 | 8344 | m.8344A\>G | [A8344G\-F59 ](https://mitofam.com/doc/1274)| American | MERRF / Ekbom syndrome with lipomas | 1 | 1 | 1994 | [8041403](https://pubmed.ncbi.nlm.nih.gov/8041403/) | Paternal\-side deafness history may be unrelated; only molecularly positive proband, daughter, and one son are entered. |
| 60 | 8344 | m.8344A\>G | [A8344G\-F60](https://mitofam.com/doc/1275) | Japanese | MERRF | 2 | 2 | 1993 | [7603535](https://pubmed.ncbi.nlm.nih.gov/7603535/) | Third family in Fig. 1; G/H from target\-positive maternal\-line pedigree review. |
| 61 | 8344 | m.8344A\>G | A8344G\-F61 | British | MERRF | 0 | 0 | 1995 | [7735877](https://pubmed.ncbi.nlm.nih.gov/7735877/) | Individual cohort patient with 8344 (MERRF); no pedigree, sex, or numeric load was reported. |
| 62 | 8344 | m.8344A\>G | A8344G\-F62 | British | MERRF | 0 | 0 | 1995 | [7735877](https://pubmed.ncbi.nlm.nih.gov/7735877/) | Individual cohort patient with 8344 (MERRF); no pedigree, sex, or numeric load was reported. |
| 63 | 8344 | m.8344A\>G | A8344G\-F63 | Japanese | MERRF with cardiac involvement | 0 | 0 | 1995 | [7850981](https://pubmed.ncbi.nlm.nih.gov/7850981/) | Unrelated cohort patient; group mutant load across MERRF patients was 75\.6%\-77\.9% in muscle, not assignable to individual patients. |
| 64 | 8344 | m.8344A\>G | A8344G\-F64 | Japanese | MERRF with cardiac involvement | 0 | 0 | 1995 | [7850981](https://pubmed.ncbi.nlm.nih.gov/7850981/) | Unrelated cohort patient; group mutant load across MERRF patients was 75\.6%\-77\.9% in muscle, not assignable to individual patients. |
| 65 | 8344 | m.8344A\>G | A8344G\-F65 | Japanese | MERRF | 0 | 0 | 1995 | [7850981](https://pubmed.ncbi.nlm.nih.gov/7850981/) | Unrelated cohort patient; group mutant load across MERRF patients was 75\.6%\-77\.9% in muscle, not assignable to individual patients. |
| 66 | 8344 | m.8344A\>G | [A8344G\-F66](https://mitofam.com/doc/1276) | United States; Cherokee Indian ancestry | Maternally inherited spinocerebellar degeneration / Leigh disease / MERRF spectrum | 0 | 6 | 1996 | [8559379](https://pubmed.ncbi.nlm.nih.gov/8559379/) | No explicit proband arrow is given. H uses fallback affected eligible relatives minus 1\. IV\-3 and IV\-4 are entered as untested affected children of confirmed\-positive mother III\-3; IV\-2 is negative but paternal\-line and excluded. |
| 67 | 8344 | m.8344A\>G | A8344G\-F67 | Australian | Leigh syndrome | 0 | 1 | 1996 | [8602753](https://pubmed.ncbi.nlm.nih.gov/8602753/) | Patient 14 is Case 2 of a previous report; only Patient 14 has explicit A8344G molecular data here. |
| 68 | 8344 | m.8344A\>G | A8344G\-F68 | Taiwanese Chinese | MERRF | 0 | 0 | 1996 | [8622733](https://pubmed.ncbi.nlm.nih.gov/8622733/) | Only the 67\-year\-old female proband has explicit tissue\-specific A8344G loads in this paper. |
| 69 | 8344 | m.8344A\>G | A8344G\-F69 | French | MERRF | 0 | 0 | 1998 | [9384601](https://pubmed.ncbi.nlm.nih.gov/9384601/) | Single mappable A8344G\-positive patient in this screening cohort. |
| 70 | 8344 | m.8344A\>G | A8344G\-F70 | Japanese | MERRF with retinal/cardiac manifestations | 0 | 0 | 1998 | [9541428](https://pubmed.ncbi.nlm.nih.gov/9541428/) | Most patients in the cohort were sporadic except LHON; no pedigree mapping for this MERRF patient. |
| 71 | 8344 | m.8344A\>G | A8344G\-F71 | Japanese | MERRF with retinal/cardiac manifestations | 0 | 0 | 1998 | [9541428](https://pubmed.ncbi.nlm.nih.gov/9541428/) | Most patients in the cohort were sporadic except LHON; no pedigree mapping for this MERRF patient. |
| 72 | 8344 | m.8344A\>G | [A8344G\-F72](https://mitofam.com/doc/1277) | American (Caucasian) | MERRF\-spectrum ataxia/myopathy/lipomatosis/hypertension | 0 | 5 | 1998 | [9818878](https://pubmed.ncbi.nlm.nih.gov/9818878/) | All six examined maternal relatives were mutation\-positive in peripheral blood leukocytes; the proband was also positive in muscle and lipomatous tissue, but no numeric loads were reported. |
| 73 | 8344 | m.8344A\>G | A8344G\-F73 | American | Leigh syndrome / chronic spinocerebellar syndrome family | 0 | 0 | 1998 | [9851442](https://pubmed.ncbi.nlm.nih.gov/9851442/) | Only proband III\-1 has direct A8344G testing from paraffin\-embedded brain sections. |
| 74 | 8344 | m.8344A\>G | A8344G\-F74 | Italian | MERRF / mitochondrial myopathy | 0 | 0 | 2000 | [10611124](https://pubmed.ncbi.nlm.nih.gov/10611124/) | ND |
| 75 | 8344 | m.8344A\>G | A8344G\-F75 | Italian | MERRF / mitochondrial myopathy | 0 | 0 | 2000 | [10611124](https://pubmed.ncbi.nlm.nih.gov/10611124/) | ND |
| 76 | 8344 | m.8344A\>G | A8344G\-F76 | Italian | MERRF / mitochondrial myopathy | 0 | 0 | 2000 | [10611124](https://pubmed.ncbi.nlm.nih.gov/10611124/) | ND |
| 77 | 8344 | m.8344A\>G | A8344G\-F77 | Italian | MERRF / mitochondrial myopathy | 0 | 0 | 2000 | [10611124](https://pubmed.ncbi.nlm.nih.gov/10611124/) | ND |
| 78 | 8344 | m.8344A\>G | A8344G\-F78 | Italian | MERRF / mitochondrial myopathy | 0 | 0 | 2000 | [10611124](https://pubmed.ncbi.nlm.nih.gov/10611124/) | ND |
| 79 | 8344 | m.8344A\>G | A8344G\-F79 | ND | Typical MERRF syndrome | 0 | 0 | 2000 | [10699170](https://pubmed.ncbi.nlm.nih.gov/10699170/) | Two separate muscle biopsies, 2A and 2B, are treated as the same carrier. |
| 80 | 8344 | m.8344A\>G | A8344G\-F80 | ND | Typical MERRF syndrome | 0 | 0 | 2000 | [10699170](https://pubmed.ncbi.nlm.nih.gov/10699170/) | ND |
| 81 | 8344 | m.8344A\>G | A8344G\-F81 | ND | A8344G carrier with family history of adult\-onset muscle weakness | 1 | 0 | 2000 | [10699170](https://pubmed.ncbi.nlm.nih.gov/10699170/) | ND |
| 82 | 8344 | m.8344A\>G | A8344G\-F82 | ND | Typical MERRF syndrome | 0 | 0 | 2000 | [10699170](https://pubmed.ncbi.nlm.nih.gov/10699170/) | ND |
| 83 | 8344 | m.8344A\>G | A8344G\-F83 | ND | Typical MERRF syndrome | 0 | 0 | 2000 | [10699170](https://pubmed.ncbi.nlm.nih.gov/10699170/) | ND |
| 84 | 8344 | m.8344A\>G | A8344G\-F84 | ND | Typical MERRF syndrome | 0 | 0 | 2000 | [10699170](https://pubmed.ncbi.nlm.nih.gov/10699170/) | ND |
| 85 | 8344 | m.8344A\>G | [A8344G\-F85 ](https://mitofam.com/doc/1278)| Spain | Multiple symmetric lipomatosis; proximal myopathy; lipid storage myopathy | 9 | 2 | 2000 | [10716764](https://pubmed.ncbi.nlm.nih.gov/10716764/) | AII\-1 is the index case. G includes molecular\-positive asymptomatic maternal relatives plus untested asymptomatic children of confirmed\-positive mothers; AIII\-7/AIII\-8/AIII\-9 are blood\-negative children of a positive father and are excluded from carrier/GH. |
| 86 | 8344 | m.8344A\>G | [A8344G\-F86](https://mitofam.com/doc/1279) | Spain | Multiple symmetric lipomatosis; proximal myopathy; lipid storage myopathy | 2 | 0 | 2000 | [10716764](https://pubmed.ncbi.nlm.nih.gov/10716764/) | BII\-1 is the index case; BIII\-1 and BIII\-2 are asymptomatic A8344G\-positive children. |
| 87 | 8344 | m.8344A\>G | A8344G\-F87 | French | MERRF / mitochondrial encephalopathy | 0 | 0 | 2001 | [11335700](https://pubmed.ncbi.nlm.nih.gov/11335700/) | Independent cohort patient with heteroplasmic A8344G. Table 3 reports family affection pattern but no numeric mutant load. |
| 88 | 8344 | m.8344A\>G | A8344G\-F88 | French | MERRF / mitochondrial encephalomyopathy | 0 | 0 | 2001 | [11335700](https://pubmed.ncbi.nlm.nih.gov/11335700/) | Independent cohort patient with heteroplasmic A8344G. Table 3 reports family affection pattern but no numeric mutant load. |
| 89 | 8344 | m.8344A\>G | A8344G\-F89 | Spanish | Encephalo\-enteromyopathy; mitochondrial myopathy; multiple lipomatosis; mild hearing loss; stroke\-like episodes; gastrointestinal involvement | 0 | 0 | 2002 | [12471464](https://pubmed.ncbi.nlm.nih.gov/12471464/) | Single A8344G case; no pedigree mapping extracted before stop. |
| 90 | 8344 | m.8344A\>G | [A8344G\-F90](https://mitofam.com/doc/1280) | USA | Leigh disease in proband; migraine/partial epilepsy/ADHD/learning disability in maternal relatives | 6 | 0 | 2003 | [12661941](https://pubmed.ncbi.nlm.nih.gov/12661941/) | Seven target\-positive maternal\-line members are reported; no pedigree figure is provided. Relatives with minor features are recorded as Affected\=N for G/H and described in Clinical Features. |
| 91 | 8344 | m.8344A\>G | A8344G\-F91 | Canada | Fatal infantile histiocytoid cardiomyopathy; failure to thrive; liver steatosis; retinal hypoplasia | 0 | 0 | 2004 | [15164143](https://pubmed.ncbi.nlm.nih.gov/15164143/) | Sporadic case; mother unavailable for testing, so de novo was favored but not proven. |
| 92 | 8344 | m.8344A\>G | [A8344G\-F92](https://mitofam.com/doc/1281) | USA | MERRF spectrum; progressive muscle wasting; unsteadiness; seizures; muscle weakness; moderate/asymptomatic heteroplasmy | 16 | 2 | 2005 | [15683723](https://pubmed.ncbi.nlm.nih.gov/15683723/) | Enter only text\-mapped target\-positive subjects in this packet; Fig. 1 may support additional carriers after visual review. |
| 93 | 8344 | m.8344A\>G | A8344G\-F93 | Japanese | MERRF | 0 | 0 | 2005 | [15893315](https://pubmed.ncbi.nlm.nih.gov/15893315/) | Biochemical tRNA modification study using autopsied liver from a previously reported Japanese MERRF case; no pedigree or relative testing was reported in this paper. |
| 94 | 8344 | m.8344A\>G | A8344G\-F94 | Danish | MERRF / mitochondrial myopathy | 0 | 0 | 2006 | [16815877](https://pubmed.ncbi.nlm.nih.gov/16815877/) | Training cohort subject; likely same individual followed in PMID19486129 patient \#4\. |
| 95 | 8344 | m.8344A\>G | [A8344G\-F95 ](https://mitofam.com/doc/1282)| German | MERRF / double\-heteroplasmic A8344G\-A16182C family | 2 | 1 | 2007 | [17236134](https://pubmed.ncbi.nlm.nih.gov/17236134/) | Figure 1A values are blood 8344G/16182C percentages; only the first number is A8344G load. |
| 96 | 8344 | m.8344A\>G | [A8344G\-F96](https://mitofam.com/doc/1283) | Italian | MERRF syndrome without ragged\-red fibers | 1 | 0 | 2007 | [17275787](https://pubmed.ncbi.nlm.nih.gov/17275787/) | No pedigree figure; mother was molecularly positive in blood. |
| 97 | 8344 | m.8344A\>G | A8344G\-F97 | Japanese | MERRF with brain\-stem and cerebellar involvement | 0 | 0 | 2008 | [17989367](https://pubmed.ncbi.nlm.nih.gov/17989367/) | Brain MRI case report; mutation load and tested tissue not reported. |
| 98 | 8344 | m.8344A\>G | A8344G\-F98 | Japanese | MERRF with brain\-stem and cerebellar involvement | 0 | 0 | 2008 | [17989367](https://pubmed.ncbi.nlm.nih.gov/17989367/) | Brain MRI case report; mutation load and tested tissue not reported. |
| 99 | 8344 | m.8344A\>G | [A8344G\-F99](https://mitofam.com/doc/1284) | Japanese | MERRF with brain\-stem and cerebellar involvement | 0 | 1 | 2008 | [17989367](https://pubmed.ncbi.nlm.nih.gov/17989367/) | Older sister had MERRF with mitochondrial A8344G; age and mutation load not reported. |
| 100 | 8344 | m.8344A\>G | A8344G\-F100 | Czech | MERRF / mitochondrial myopathy | 0 | 0 | 2008 | [18319067](https://pubmed.ncbi.nlm.nih.gov/18319067/) | Mechanistic tissue study with one m.8344A\>G patient sample. |
| 101 | 8344 | m.8344A\>G |[ A8344G\-F101](https://mitofam.com/doc/1285/) | Hungarian | MERRF with depressive mood disorders | 1 | 2 | 2009 | [19266142](https://pubmed.ncbi.nlm.nih.gov/19266142/) | Healthy daughter was blood\-negative and is not entered as carrier; deceased relatives were not available for testing. Healthy daughter is entered as a blood\-negative branch\-stop relative. |
| 102 | 8344 | m.8344A\>G | A8344G\-F102 | Italian | Cavitating leukoencephalopathy / MERRF spectrum | 0 | 0 | 2010 | [20581069](https://pubmed.ncbi.nlm.nih.gov/20581069/) | Single affected child; A8344G was not detectable in the healthy mother's blood and urine, so maternal inheritance is not established. |
| 103 | 8344 | m.8344A\>G | A8344G\-F103 | French | MERRF / reproductive PGD carrier | 0 | 0 | 2011 | [21473984](https://pubmed.ncbi.nlm.nih.gov/21473984/) | PGD study; only the female partner is entered as a carrier candidate. Polar\-body, oocyte, and embryo measurements are aggregate/non\-standard carrier material. |
| 104 | 8344 | m.8344A\>G | A8344G\-F104 | British | MERRF with cerebellar microangiopathy | 0 | 0 | 2012 | [22577219](https://pubmed.ncbi.nlm.nih.gov/22577219/) | Likely overlaps with PMID22249460 Pt8; main agent should de\-duplicate. |
| 105 | 8344 | m.8344A\>G | A8344G\-F105 | British | MERRF with cerebellar microangiopathy | 0 | 0 | 2012 | [22577219](https://pubmed.ncbi.nlm.nih.gov/22577219/) | No relationship to Pt9 is reported; treat as a separate unrelated subject unless main integrator has external evidence. |
| 106 | 8344 | m.8344A\>G | A8344G\-F106 | Danish | Mitochondrial myopathy / MERRF spectrum | 0 | 0 | 2013 | [23376095](https://pubmed.ncbi.nlm.nih.gov/23376095/) | No family relationship is reported; treat as an unrelated cohort subject. |
| 107 | 8344 | m.8344A\>G | A8344G\-F107 | Danish | Mitochondrial myopathy / MERRF spectrum | 0 | 0 | 2013 | [23376095](https://pubmed.ncbi.nlm.nih.gov/23376095/) | No family relationship is reported; treat as an unrelated cohort subject. |
| 108 | 8344 | m.8344A\>G | A8344G\-F108 | Danish | Mitochondrial myopathy / MERRF spectrum | 0 | 0 | 2013 | [23376095](https://pubmed.ncbi.nlm.nih.gov/23376095/) | No family relationship is reported; treat as an unrelated cohort subject. |
| 109 | 8344 | m.8344A\>G | A8344G\-F109 | Danish | Mitochondrial myopathy / MERRF spectrum | 0 | 0 | 2013 | [23376095](https://pubmed.ncbi.nlm.nih.gov/23376095/) | No family relationship is reported; treat as an unrelated cohort subject. |
| 110 | 8344 | m.8344A\>G | A8344G\-F110 | Danish | Mitochondrial myopathy / MERRF spectrum | 0 | 0 | 2013 | [23376095](https://pubmed.ncbi.nlm.nih.gov/23376095/) | No family relationship is reported; treat as an unrelated cohort subject. |
| 111 | 8344 | m.8344A\>G | A8344G\-F111 | Danish | Mitochondrial myopathy / MERRF spectrum | 0 | 0 | 2013 | [23376095](https://pubmed.ncbi.nlm.nih.gov/23376095/) | No family relationship is reported; treat as an unrelated cohort subject. |
| 112 | 8344 | m.8344A\>G | A8344G\-F112 | Danish | Mitochondrial myopathy / MERRF spectrum | 0 | 0 | 2013 | [23376095](https://pubmed.ncbi.nlm.nih.gov/23376095/) | No family relationship is reported; treat as an unrelated cohort subject. |
| 113 | 8344 | m.8344A\>G | A8344G\-F113 | British | Prenatal testing for familial mitochondrial disease / MERRF risk | 0 | 0 | 2014 | [24642831](https://pubmed.ncbi.nlm.nih.gov/24642831/) | Table 1, Patient 5\. |
| 114 | 8344 | m.8344A\>G | [A8344G\-F114 ](https://mitofam.com/doc/1286/)| Korean | Adult\-onset Leigh syndrome / MERRF overlap with optic neuropathy | 1 | 2 | 2014 | [24961732](https://pubmed.ncbi.nlm.nih.gov/24961732/) | Fig. 2 pedigree. |
| 115 | 8344 | m.8344A\>G | [A8344G\-F115](https://mitofam.com/doc/1287/) | Italy | MERRF\-associated myo\-cardiomyopathy; respiratory insufficiency; lactic acidosis | ND | ND | 2015 | [25559684](https://pubmed.ncbi.nlm.nih.gov/25559684/) | Main PDF reports 15 A8344G patients from seven unrelated Italian families but does not map patient\-to\-family; one unresolved cohort family row is used. |
| 116 | 8344 | m.8344A\>G | [A8344G\-F116](https://mitofam.com/doc/1288/) | German | m.8344A\>G MERRF spectrum | 0 | 1 | 2016 | [26995359](https://pubmed.ncbi.nlm.nih.gov/26995359/) | F1; confirmed black/star mutation\-positive subjects entered. Grey untested relatives are count\-only only when explicitly included in G/H basis. |
| 117 | 8344 | m.8344A\>G | [A8344G\-F117](https://mitofam.com/doc/1289/) | German | m.8344A\>G MERRF spectrum | 0 | 4 | 2016 | [26995359](https://pubmed.ncbi.nlm.nih.gov/26995359/) | F2; confirmed black/star mutation\-positive subjects entered. Grey untested relatives are count\-only only when explicitly included in G/H basis. |
| 118 | 8344 | m.8344A\>G | [A8344G\-F118](https://mitofam.com/doc/1290/) | German | m.8344A\>G MERRF spectrum | 0 | 1 | 2016 | [26995359](https://pubmed.ncbi.nlm.nih.gov/26995359/) | F3; confirmed black/star mutation\-positive subjects entered. Grey untested relatives are count\-only only when explicitly included in G/H basis. |
| 119 | 8344 | m.8344A\>G | [A8344G\-F119](https://mitofam.com/doc/1291/) | German | m.8344A\>G MERRF spectrum | 1 | 1 | 2016 | [26995359](https://pubmed.ncbi.nlm.nih.gov/26995359/) | F4; confirmed black/star mutation\-positive subjects entered. Grey untested relatives are count\-only only when explicitly included in G/H basis. |
| 120 | 8344 | m.8344A\>G | [A8344G\-F120](https://mitofam.com/doc/1292) | German | m.8344A\>G MERRF spectrum | 0 | 3 | 2016 | [26995359](https://pubmed.ncbi.nlm.nih.gov/26995359/) | F5; confirmed black/star mutation\-positive subjects entered. Grey untested relatives are count\-only only when explicitly included in G/H basis. |
| 121 | 8344 | m.8344A\>G | [A8344G\-F121](https://mitofam.com/doc/1293) | German | m.8344A\>G MERRF spectrum | 0 | 1 | 2016 | [26995359](https://pubmed.ncbi.nlm.nih.gov/26995359/) | F6; confirmed black/star mutation\-positive subjects entered. Grey untested relatives are count\-only only when explicitly included in G/H basis. |
| 122 | 8344 | m.8344A\>G |[ A8344G\-F122](https://mitofam.com/doc/1294) | German | m.8344A\>G MERRF spectrum | 0 | 1 | 2016 | [26995359](https://pubmed.ncbi.nlm.nih.gov/26995359/) | F7; confirmed black/star mutation\-positive subjects entered. Grey untested relatives are count\-only only when explicitly included in G/H basis. |
| 123 | 8344 | m.8344A\>G | [A8344G\-F123](https://mitofam.com/doc/1295) | German | m.8344A\>G MERRF spectrum | 0 | 2 | 2016 | [26995359](https://pubmed.ncbi.nlm.nih.gov/26995359/) | F8; confirmed black/star mutation\-positive subjects entered. Grey untested relatives are count\-only only when explicitly included in G/H basis. |
| 124 | 8344 | m.8344A\>G | A8344G\-F124 | German | m.8344A\>G MERRF spectrum | 0 | 0 | 2016 | [26995359](https://pubmed.ncbi.nlm.nih.gov/26995359/) | F9; confirmed black/star mutation\-positive subjects entered. Grey untested relatives are count\-only only when explicitly included in G/H basis. |
| 125 | 8344 | m.8344A\>G | A8344G\-F125 | German | m.8344A\>G MERRF spectrum | 0 | 0 | 2016 | [26995359](https://pubmed.ncbi.nlm.nih.gov/26995359/) | F10; confirmed black/star mutation\-positive subjects entered. Grey untested relatives are count\-only only when explicitly included in G/H basis. |
| 126 | 8344 | m.8344A\>G |[ A8344G\-F126](https://mitofam.com/doc/1296) | German | m.8344A\>G MERRF spectrum | 0 | 2 | 2016 | [26995359](https://pubmed.ncbi.nlm.nih.gov/26995359/) | F11; confirmed black/star mutation\-positive subjects entered. Grey untested relatives are count\-only only when explicitly included in G/H basis. |
| 127 | 8344 | m.8344A\>G | [A8344G\-F127](https://mitofam.com/doc/1297) | German | m.8344A\>G MERRF spectrum | 0 | 3 | 2016 | [26995359](https://pubmed.ncbi.nlm.nih.gov/26995359/) | F12; confirmed black/star mutation\-positive subjects entered. Grey untested relatives are count\-only only when explicitly included in G/H basis. |
| 128 | 8344 | m.8344A\>G | [A8344G\-F128](https://mitofam.com/doc/1298) | German | m.8344A\>G MERRF spectrum | 0 | 1 | 2016 | [26995359](https://pubmed.ncbi.nlm.nih.gov/26995359/) | F13; confirmed black/star mutation\-positive subjects entered. Grey untested relatives are count\-only only when explicitly included in G/H basis. |
| 129 | 8344 | m.8344A\>G | A8344G\-F129 | Chinese | Mitochondrial myopathy with exercise intolerance | 0 | 0 | 2017 | [28716227](https://pubmed.ncbi.nlm.nih.gov/28716227/) | Unrelated Han Chinese patient. |
| 130 | 8344 | m.8344A\>G | A8344G\-F130 | Chinese | Mitochondrial myopathy with exercise intolerance | 0 | 0 | 2017 | [28716227](https://pubmed.ncbi.nlm.nih.gov/28716227/) | Unrelated Han Chinese patient. |
| 131 | 8344 | m.8344A\>G | A8344G\-F131 | Chinese | Mitochondrial myopathy with exercise intolerance | 0 | 0 | 2017 | [28716227](https://pubmed.ncbi.nlm.nih.gov/28716227/) | Unrelated Han Chinese patient. |
| 132 | 8344 | m.8344A\>G | A8344G\-F132 | Chinese | Mitochondrial myopathy with exercise intolerance | 0 | 0 | 2017 | [28716227](https://pubmed.ncbi.nlm.nih.gov/28716227/) | Family history positive but only P9 is molecularly mapped in this paper. |
| 133 | 8344 | m.8344A\>G | A8344G\-F133 | Taiwanese | MERRF syndrome with deafness | 0 | 0 | 2018 | [29288969](https://pubmed.ncbi.nlm.nih.gov/29288969/) | Lab Resource paper; one identifiable donor with age, sex, ethnicity and A8344G proportion. No family information. |
| 134 | 8344 | m.8344A\>G | [A8344G\-F134](https://mitofam.com/doc/1299) | German | MERRF\-like/Leigh\-like syndrome with Klinefelter syndrome | 2 | 0 | 2018 | [29650490](https://pubmed.ncbi.nlm.nih.gov/29650490/) | No muscle load is reported; multi\-tissue loads are shown for blood, saliva, buccal cells, skin, urine and fibroblast culture. |
| 135 | 8344 | m.8344A\>G | A8344G\-F135 | Spanish | MERRF syndrome | 0 | 0 | 2019 | [30797798](https://pubmed.ncbi.nlm.nih.gov/30797798/) | Patient\-specific fibroblast/iN model; no family data. |
| 136 | 8344 | m.8344A\>G | A8344G\-F136 | Spanish | MERRF syndrome | 0 | 0 | 2019 | [30797798](https://pubmed.ncbi.nlm.nih.gov/30797798/) | Patient\-specific fibroblast/iN model; no family data. |
| 137 | 8344 | m.8344A\>G | A8344G\-F137 | Italian | MERRF with leukoencephalopathy, myopathy, and epilepsy | 0 | 0 | 2020 | [32504279](https://pubmed.ncbi.nlm.nih.gov/32504279/) | Adult biomarker cohort; no family relationship or A8344G heteroplasmy load is reported for this subject. |
| 138 | 8344 | m.8344A\>G | A8344G\-F138 | Italian | Chronic progressive external ophthalmoplegia | 0 | 0 | 2020 | [32504279](https://pubmed.ncbi.nlm.nih.gov/32504279/) | Adult biomarker cohort; no family relationship or A8344G heteroplasmy load is reported for this subject. |
| 139 | 8344 | m.8344A\>G | A8344G\-F139 | Uruguayan | Leigh syndrome | 0 | 0 | 2021 | [34536563](https://pubmed.ncbi.nlm.nih.gov/34536563/) | PBMC/platelet respiration study; family relationships and individual sex are not reported. HF is treated as blood\-cell heteroplasmy based on the study discussion. |
| 140 | 8344 | m.8344A\>G | A8344G\-F140 | United States | Seizures | 0 | 0 | 2022 | [34969639](https://pubmed.ncbi.nlm.nih.gov/34969639/) | Diagnostic cohort case; maternal tissue testing was not done/reported. |
| 141 | 8344 | m.8344A\>G | A8344G\-F141 | United States | MERRF with chronic respiratory failure | 0 | 0 | 2022 | [34969639](https://pubmed.ncbi.nlm.nih.gov/34969639/) | Diagnostic cohort case; maternal tissue testing was not done/reported. |
| 142 | 8344 | m.8344A\>G |[ A8344G\-F142](https://mitofam.com/doc/1300) | Italian | Atypical MERRF / myopathy without CNS involvement | 1 | 1 | 2023 | [36675808](https://pubmed.ncbi.nlm.nih.gov/36675808/) | Four\-generation family; only the proband and two sisters have molecularly reported A8344G results and are entered as carriers. |
| 143 | 8344 | m.8344A\>G | A8344G\-F143 | Italy | MERRF syndrome / patient\-derived fibroblast model | 0 | 0 | 2022 | [35922766](https://pubmed.ncbi.nlm.nih.gov/35922766/) | Patient\-derived fibroblast line with intermediate m.8344A\>G load; no age, sex, pedigree, or subject\-specific clinical details in main PDF. |
| 144 | 8344 | m.8344A\>G | A8344G\-F144 | Italy | MERRF syndrome / patient\-derived fibroblast and cybrid model | 0 | 0 | 2022 | [35922766](https://pubmed.ncbi.nlm.nih.gov/35922766/) | Skin fibroblasts from P2 were used to generate cybrids; main PDF supports high\-load category but exact subject\-specific value is in Additional file 1\. |
| 145 | 8344 | m.8344A\>G | A8344G\-F145 | Italy | MERRF syndrome / patient\-derived fibroblast model | 0 | 0 | 2022 | [35922766](https://pubmed.ncbi.nlm.nih.gov/35922766/) | Patient\-derived fibroblast line; main PDF supports high\-load category but exact subject\-specific value is in Additional file 1\. |
| 146 | 8344 | m.8344A\>G | A8344G\-F146 | Australia | Multiple symmetric lipomatosis without myoclonus epilepsy | 0 | 0 | 1991 | [1678125](https://pubmed.ncbi.nlm.nih.gov/1678125/) | Additional MSL patient directly reported to have the tRNAlys/A8344G mutation; no pedigree, tissue, method, or heteroplasmy load reported. Nationality inferred from first author/patient\-reporting affiliation. |

# 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 | 8344 | m.8344A\>G | A8344G\-F4 | A8344G\-F4\-III4 | Fam | F | ND | Y | ND | 24 onset | 77% | 83% | / | 87%(H); 48%(F) | Fatigability, myoclonic epilepsy, proximal weakness, mild cerebellar dysfunction, dilated cardiomyopathy | III\-4 |
| 2 | 8344 | m.8344A\>G | A8344G\-F4 | A8344G\-F4\-IV1 | Fam | M | ND | N | ND | 17 | 63% | / | / | 63%(H) | Asymptomatic; defective heart valve | IV\-1 |
| 3 | 8344 | m.8344A\>G | A8344G\-F4 | A8344G\-F4\-IV2 | Fam | M | ND | Y | ND | 15 | 82% | 84% | / | 72%(H); 31%(F) | Muscle weakness, intentional tremor, abnormal EEG | IV\-2; ragged\-red fibers on muscle biopsy |
| 4 | 8344 | m.8344A\>G | A8344G\-F4 | A8344G\-F4\-IV3 | Fam | F | ND | Y | ND | 10 | 67% | 84% | / | 85%(H) | Severe cerebellar ataxia and myoclonic epilepsy from age 8 | IV\-3 |
| 5 | 8344 | m.8344A\>G | A8344G\-F4 | A8344G\-F4\-III6 | Fam | F | ND | N | ND | ND | 76% | / | / | / | Healthy | III\-6; appeared normal but not clinically examined |
| 6 | 8344 | m.8344A\>G | A8344G\-F4 | A8344G\-F4\-IV5 | Fam | F | ND | N | ND | ND | 29% | / | / | / | Healthy | IV\-5; appeared normal but not clinically examined |
| 7 | 8344 | m.8344A\>G | A8344G\-F4 | A8344G\-F4\-IV6 | Fam | M | ND | N | ND | ND | 74% | / | / | / | Healthy | IV\-6; appeared normal but not clinically examined |
| 8 | 8344 | m.8344A\>G | A8344G\-F4 | A8344G\-F4\-IV8 | Fam | M | ND | N | ND | ND | 66% | / | / | / | Healthy | IV\-8; appeared normal but not clinically examined |
| 9 | 8344 | m.8344A\>G | A8344G\-F17 | A8344G\-F17\-P1 | Fam | F | Y | Y | ND | 30 | / | 97% | / | / | MERRF; onset 14; myoclonus, epilepsy, ataxia, myopathy, dementia; RRF | case 1 |
| 10 | 8344 | m.8344A\>G | A8344G\-F18 | A8344G\-F18\-P1 | Fam | M | Y | Y | ND | 20 | / | 99% | / | / | Severe MERRF; childhood onset; myoclonus, epilepsy, ataxia, myopathy, optic atrophy; RRF | case 2 |
| 11 | 8344 | m.8344A\>G | A8344G\-F19 | A8344G\-F19\-I1 | Uninf | F | N | Y | ND | 67 | / | 91% | / | / | Milder MERRF; onset 55; myoclonus, epilepsy, ataxia, myopathy, hearing loss | case 3 mother |
| 12 | 8344 | m.8344A\>G | A8344G\-F19 | A8344G\-F19\-II1 | Fam | M | Y | Y | ND | 25 | / | 89% | / | / | Severe MERRF; childhood onset; myoclonus, epilepsy, ataxia, myopathy, dementia | case 4 son |
| 13 | 8344 | m.8344A\>G | A8344G\-F20 | A8344G\-F20\-P1 | Fam | F | Y | Y | ND | 16 | / | 93% | / | / | MERRF; onset 11; myoclonus, ataxia, epilepsy, mitochondrial myopathy | case 5 |
| 14 | 8344 | m.8344A\>G | A8344G\-F21 | A8344G\-F21\-II1 | Fam | F | ND | Y | ND | 30 onset | 86\-90% | / | / | / | Myoclonus, generalized seizures, ataxia, deafness, muscular involvement, peripheral neuropathy | II\-1 |
| 15 | 8344 | m.8344A\>G | A8344G\-F21 | A8344G\-F21\-III2 | Fam | F | ND | Y | ND | 37 onset | 67\-73% | / | / | / | Myoclonus, muscular involvement, peripheral neuropathy | III\-2 |
| 16 | 8344 | m.8344A\>G | A8344G\-F21 | A8344G\-F21\-III3 | Fam | F | ND | Y | ND | 35 onset | 73\-84% | / | / | / | Muscular involvement | III\-3 |
| 17 | 8344 | m.8344A\>G | A8344G\-F21 | A8344G\-F21\-III4 | Fam | F | ND | Y | ND | 27 onset | 72\-86% | / | / | / | Myoclonus, generalized seizure, ataxia, deafness, muscular involvement, peripheral neuropathy | III\-4 |
| 18 | 8344 | m.8344A\>G | A8344G\-F21 | A8344G\-F21\-IV1 | Fam | M | ND | N | ND | ND | / | 5\-6% | / | 5%(F) | Healthy | IV\-1 dizygotic twin; low mutant load in blood/skin/muscle |
| 19 | 8344 | m.8344A\>G | A8344G\-F21 | A8344G\-F21\-IV2 | Fam | F | ND | Y | ND | 20 onset | 83\-90% | / | / | / | Muscular involvement | IV\-2 dizygotic twin |
| 20 | 8344 | m.8344A\>G | A8344G\-F21 | A8344G\-F21\-IV4 | Fam | M | ND | N | ND | ND | 81\-86% | / | / | / | Healthy | IV\-4 |
| 21 | 8344 | m.8344A\>G | A8344G\-F21 | A8344G\-F21\-IV5 | Fam | M | ND | Y | ND | 1 onset | 78\-98% | / | / | / | Severe early\-onset myoclonus and ataxia | IV\-5 |
| 22 | 8344 | m.8344A\>G | A8344G\-F21 | A8344G\-F21\-IV6 | Fam | M | ND | N | ND | ND | 73\-90% | / | / | / | Healthy | IV\-6 |
| 23 | 8344 | m.8344A\>G | A8344G\-F22 | A8344G\-F22\-P1 | Uninf | M | Y | Y | ND | 42 | / | 83\.1% | / | / | Exercise\-induced pain/fatigue, cervical lipomata, hearing loss; no ataxia, fixed\-muscle weakness, myoclonus or extraocular muscle paresis | Patient 1; biceps biopsy showed abundant RRF |
| 24 | 8344 | m.8344A\>G | A8344G\-F23 | A8344G\-F23\-III1 | Fam | M | Y | Y | ND | 22 | / | 90\.9% | / | / | Infrequent generalized myoclonic jerks, subtle cognitive deficits | Patient 2; biceps biopsy showed no RRF or other abnormalities |
| 25 | 8344 | m.8344A\>G | A8344G\-F23 | A8344G\-F23\-III2 | Fam | F | ND | Y | ND | 21 | / | \>99% | / | / | Seizures and exercise\-provoked myoclonus from age 15, exercise intolerance | Patient 3; first cousin of Patient 2; muscle biopsy showed numerous RRF |
| 26 | 8344 | m.8344A\>G | A8344G\-F24 | A8344G\-F24\-P4 | Uninf | F | Y | Y | ND | 44 | / | 80\.0% | / | / | Gait ataxia, myoclonic jerks, generalized seizures, hearing loss, cervical lipomata | Patient 4; biceps biopsy showed numerous RRF |
| 27 | 8344 | m.8344A\>G | A8344G\-F31 | A8344G\-F31\-P1 | Uninf | M | Y | Y | D | 48 | / | 90% | / | 85%(Cerebellum); 90%(Cerebrum); 42%(Pancreas); 97%(Liver); 82%(Heart) | Tonic\-clonic seizures from age 30, limb/gait ataxia, dysmetria, intention tremor, distal limb weakness/wasting with areflexia, worsening myoclonus, RRF | SVR88\-3 autopsy case; 48\-year\-old male patient; no family history of CNS disorder; died at end of 1991\. |
| 28 | 8344 | m.8344A\>G | A8344G\-F32 | A8344G\-F32\-P1 | Uninf | ND | Y | Y | ND | ND | / | positive | / | / | MERRF; ataxia; deafness; myoclonus; seizures | Patient H(99\); bp 8344 (A\-G) in muscle; muscle biopsy showed subnormal COX activity within RRF/COX\-deficient fibers. |
| 29 | 8344 | m.8344A\>G | A8344G\-F43 | A8344G\-F43\-II1 | Uninf | F | Y | Y | ND | 19 years 7 months last seen | / | positive | / | / | Myoclonus, intention tremor, slight weakness, mental disturbance, hearing impairment, optic atrophy; no epileptic attacks or gait ataxia | case 1 older sister |
| 30 | 8344 | m.8344A\>G | A8344G\-F43 | A8344G\-F43\-II2 | Uninf | F | ND | Y | ND | 18 years 5 months follow\-up | / | positive | / | / | Myoclonus of hands/arms/trunk, intention tremor, fatigue, slight optic atrophy and slight sensorineural hearing loss | case 2 younger sister; muscle biopsy showed about 10% ragged\-red fibers; same tRNALys mutation detected. |
| 31 | 8344 | m.8344A\>G | A8344G\-F46 | A8344G\-F46\-III4 | Fam | F | Y | Y | ND | mid\-50s first seen | / | 85% | / | / | Adult\-onset myoclonus, proximal weakness, tremor/ataxia, neuropathic pain, RRF/myopathy | Patient 1 (III\-4 mother) |
| 32 | 8344 | m.8344A\>G | A8344G\-F46 | A8344G\-F46\-IV1 | Fam | M | ND | Y | ND | 50 | / | 92% | / | / | Seizures, myoclonus, ataxia, wheelchair by mid\-30s, hearing loss | Patient 2 (IV\-1 son) |
| 33 | 8344 | m.8344A\>G | A8344G\-F46 | A8344G\-F46\-IV2 | Fam | F | ND | Y | ND | 43 | / | / | / | 92%(F) | Seizures, mild myoclonus/weakness, tremor/ataxia, mild hearing loss | Patient 3 (IV\-2 daughter) |
| 34 | 8344 | m.8344A\>G | A8344G\-F47 | A8344G\-F47\-II1 | Fam | F | Y | Y | D | 57 | / | 84% | / | 79%(Heart) | Adult\-onset myopathy, neuropathic pain, cardiomyopathy and respiratory failure | Patient 5 (II\-1 mother); died age 66\. |
| 35 | 8344 | m.8344A\>G | A8344G\-F48 | A8344G\-F48\-II1 | Fam | F | Y | Y | A | 37 | 71% | 80% | / | 62%(F); 75%(Adipose tissue); 90%(Lipoma 1\); 94%(Lipoma 2\); 94%(Lipoma 3\); 94%(Cultured lipoma cells) | Multiple symmetric lipomas; no neuromuscular disease | Mother of a MERRF son; no ragged\-red fibers; normal muscle respiratory activity; few (\<1%) COX\-deficient muscle fibers. Evidence: Case report and Table 1: 37\-year\-old woman with A8344G loads in lymphocytes, muscle, fibroblasts, adipose tissue, and lipomas. |
| 36 | 8344 | m.8344A\>G | A8344G\-F48 | A8344G\-F48\-III1 | Fam | M | N | Y | A | 17 | / | / | / | / | MERRF syndrome | The A8344G mutation was first identified in this son; exact tissue load is not reported in this paper.; Evidence: Case report: oldest son had MERRF syndrome and carried the same A8344G mutation. |
| 37 | 8344 | m.8344A\>G | A8344G\-F48 | A8344G\-F48\-I1 | Uninf | F | N | Y | ND | ND | / | / | / | / | Large confluent lipomas around neck and shoulder | The discussion states the patient and her mother are carriers; exact tissue and load are not reported.; Evidence: Family history/discussion: patient's mother had similar lipomas and is described as a carrier. |
| 38 | 8344 | m.8344A\>G | A8344G\-F49 | A8344G\-F49\-V1 | Fam | F | N | N | A | ND | 20% | / | / | / | Healthy | Blood load from Fig. 1; no symptoms reported.; Evidence: Fig. 1 and text map V\-1 to A8344G\-positive blood. |
| 39 | 8344 | m.8344A\>G | A8344G\-F49 | A8344G\-F49\-VI2 | Fam | M | ND | Y | A | 31 | 70% | / | / | 40%(F) | MERRF syndrome; axonal polyneuropathy; epilepsy | Age 31 reflects later clinical description; muscle biopsy at 26 showed ragged\-red fibers and abnormal mitochondrial ultrastructure. Evidence: Fig. 1 reports VI\-2 blood 70% and fibroblasts 40%; clinical text describes MERRF, epilepsy, and axonal polyneuropathy. |
| 40 | 8344 | m.8344A\>G | A8344G\-F49 | A8344G\-F49\-VI3 | Fam | F | N | N | A | ND | 50% | / | / | / | Healthy | Unaffected mutation carrier.; Evidence: Fig. 1 maps VI\-3 to A8344G\-positive blood with 50% mutant mtDNA. |
| 41 | 8344 | m.8344A\>G | A8344G\-F49 | A8344G\-F49\-VI4 | Fam | M | N | Y | D | 31 | / | 80% | / | 2%(F) | MERRF; axonal neuropathy affecting CNS and PNS | Died at age 31; muscle histochemistry/electron microscopy showed mitochondriopathy with ragged\-red fibers. Evidence: Fig. 1 reports VI\-4 muscle 80% and fibroblasts 2%; text describes affected disease course and axonal neuropathy. |
| 42 | 8344 | m.8344A\>G | A8344G\-F49 | A8344G\-F49\-VI5 | Fam | M | N | Y | A | 24 | 70% | / | / | 40%(F) | Epileptic seizures; myoclonic seizures; ataxia; proximal muscle weakness; muscular atrophy; reduced visus | First seizure at age 19; muscle biopsy at age 24 showed ragged\-red fibers. Evidence: Fig. 1 reports VI\-5 blood 70% and fibroblasts 40%; clinical text describes affected features. |
| 43 | 8344 | m.8344A\>G | A8344G\-F57 | A8344G\-F57\-I1 | Uninf | F | N | Y | A | 65 | 12\.0% | / | / | / | diabetes, neurosensory deafness, simple diabetic retinopathy | Mother of proband; diabetes diagnosed at age 59; treated with sulfonylurea; MERRF symptoms absent.; Evidence: Fig. 1 and text: heteroplasmic tRNA Lys(8344\) mutation in peripheral lymphocytes; blood mutant load 12\.0%. |
| 44 | 8344 | m.8344A\>G | A8344G\-F57 | A8344G\-F57\-II1 | Fam | M | Y | Y | A | 43 | 27\.6% | / | / | / | MERRF with diabetes, hearing disturbance, optic atrophy, proximal weakness and atrophy, myoclonic seizures, ragged\-red fibers, simple diabetic retinopathy | Proband; diabetes diagnosed at 36, insulin from age 40; MERRF symptoms from age 41\.; Evidence: Fig. 1 and text: proband II\-1 heteroplasmic for A8344G; blood mutant load 27\.6%. |
| 45 | 8344 | m.8344A\>G | A8344G\-F57 | A8344G\-F57\-II2 | Fam | M | N | Y | A | 37 | 16\.9% | / | / | / | impaired glucose tolerance; no MERRF symptoms reported | Brother of proband; IGT diagnosed at age 24; insulin secretory capacity considered normal.; Evidence: Fig. 1 and text: brother II\-2 heteroplasmic for A8344G; blood mutant load 16\.9%. |
| 46 | 8344 | m.8344A\>G | A8344G\-F57 | A8344G\-F57\-II3 | Fam | F | N | Y | A | 34 | 18\.3% | / | / | / | ketosis\-prone IDDM and sensory hearing loss; no MERRF symptoms reported | Sister of proband; diabetes at 29, hearing loss at 31\.; Evidence: Fig. 1 and text: sister II\-3 heteroplasmic for A8344G; blood mutant load 18\.3%. |
| 47 | 8344 | m.8344A\>G | A8344G\-F57 | A8344G\-F57\-II4 | Fam | M | N | Y | A | 32 | 20\.2% | / | / | / | diabetic ketoacidosis / insulin\-dependent diabetes and mild sensory hearing loss | Brother of proband; diabetes onset at age 24\.; Evidence: Fig. 1 and text: brother II\-4 heteroplasmic for A8344G; blood mutant load 20\.2%. |
| 48 | 8344 | m.8344A\>G | A8344G\-F57 | A8344G\-F57\-II5 | Fam | M | N | Y | A | 29 | 19\.6% | / | / | / | IDDM with recurrent diabetic ketoacidosis and sensory hearing loss | Brother of proband; diabetes at age 25, hearing loss at age 28\.; Evidence: Fig. 1 and text: brother II\-5 heteroplasmic for A8344G; blood mutant load 19\.6%. |
| 49 | 8344 | m.8344A\>G | A8344G\-F57 | A8344G\-F57\-III4 | Fam | F | N | N | A | 6 | / | / | / | / | Healthy | Niece of proband; normal glucose tolerance and no neurosensory deafness or MERRF symptoms reported; Fig. 1 marks her as mutation\-positive, but the numeric percentage is not readable in the supplied PDF text/image.; Evidence: Fig. 1 and Fig. 2/text: niece III\-4 heteroplasmic for A8344G. |
| 50 | 8344 | m.8344A\>G | A8344G\-F59 | A8344G\-F59\-I1 | Uninf | F | Y | Y | A | 66 | / | / | / | / | Ekbom syndrome; multiple symmetric lipomas; ataxia; slight myopathy; neuropathy; sensorineural deafness; type II diabetes; cardiac arrhythmias; hypertension; hyperlipidemia; ragged\-red and COX\-negative fibers | Blood and muscle showed A8344G but no quantitative load is reported.; Evidence: Case report states molecular genetic analysis of blood and muscle identified A8344G. |
| 51 | 8344 | m.8344A\>G | A8344G\-F59 | A8344G\-F59\-II1 | Fam | F | N | Y | A | 45 | / | / | / | / | Deafness and lipomas | Exact load not reported.; Evidence: Proof note states the daughter with lipomas/deafness had the same point mutation. |
| 52 | 8344 | m.8344A\>G | A8344G\-F59 | A8344G\-F59\-II2 | Fam | M | N | N | ND | ND | / | / | / | / | Healthy | One son had the same mutation; no deafness, lipomas, or neurologic symptoms reported; exact son identity and load not reported.; Evidence: Proof note states one son had the same point mutation. |
| 53 | 8344 | m.8344A\>G | A8344G\-F61 | A8344G\-F61\-P1 | Uninf | ND | Y | Y | A | 22 | / | / | / | / | MERRF; ataxia; myoclonus and epilepsy | Original patient label ME7\. Cohort patient with molecular biology column 8344; no sex or heteroplasmy percentage reported. Table 1 muscle histochemistry: SSAM 1%, COX mosaic 8% negative fibers. Evidence: Table 1 and Table 2 list ME7 as 8344 (MERRF), age 22, presentation ataxia, diagnosis led by myoclonus and epilepsy. |
| 54 | 8344 | m.8344A\>G | A8344G\-F62 | A8344G\-F62\-P1 | Fam | ND | Y | Y | A | 20 | / | / | / | / | MERRF; ataxia; myoclonus and epilepsy | Original patient label ME8\. Cohort patient with molecular biology column 8344; no sex or heteroplasmy percentage reported. Maternal inheritance is a diagnostic clue, not a clinical feature. Table 1 muscle histochemistry: SSAM 30%, COX mosaic 80% negative fibers. Evidence: Table 1 and Table 2 list ME8 as 8344 (MERRF), age 20, presentation ataxia, diagnosis led by myoclonus, epilepsy, and maternal inheritance. |
| 55 | 8344 | m.8344A\>G | A8344G\-F63 | A8344G\-F63\-P10 | Uninf | M | Y | Y | ND | 36 | / | / | / | / | MERRF; myoclonus; ataxia; epilepsy; ragged\-red fibers; occasional palpitation; exertional dyspnea; ST depression or T inversion; ventricular premature contractions; cardiomegaly; asymmetric septal hypertrophy; diffuse hypokinesis. | Individual heteroplasmy not reported; group MERRF muscle range 75\.6%\-77\.9%.; Evidence: Tables list Patient 10 as male age 36 with MERRF and A8344G mutation. |
| 56 | 8344 | m.8344A\>G | A8344G\-F64 | A8344G\-F64\-P11 | Uninf | F | Y | Y | ND | 37 | / | / | / | / | MERRF; myoclonus; ataxia; epilepsy; ragged\-red fibers; progressive exertional dyspnea; ST depression or T inversion; left axis deviation; QS; cardiomegaly with congestion; asymmetric septal hypertrophy; diffuse hypokinesis; later dilated left ventricle and congestive heart failure. | Individual heteroplasmy not reported; group MERRF muscle range 75\.6%\-77\.9%.; Evidence: Tables list Patient 11 as female age 37 with MERRF and A8344G mutation. |
| 57 | 8344 | m.8344A\>G | A8344G\-F65 | A8344G\-F65\-P12 | Uninf | M | Y | Y | ND | 45 | / | / | / | / | MERRF; myoclonus; ataxia; epilepsy; ragged\-red fibers; no cardiac abnormality reported on ECG, chest radiograph, or echocardiography. | Individual heteroplasmy not reported; group MERRF muscle range 75\.6%\-77\.9%.; Evidence: Tables list Patient 12 as male age 45 with MERRF and A8344G mutation. |
| 58 | 8344 | m.8344A\>G | A8344G\-F67 | A8344G\-F67\-P14 | Fam | M | Y | Y | D | 6 months onset | / | \>90% | / | \>90%(Liver); \>90%(Kidney); \>90%(F); \>90%(Brain regions) | Leigh syndrome; developmental delay; hypotonia; reflex abnormalities; ophthalmoplegia or squint; optic atrophy; ptosis; bulbar and respiratory disturbance; raised lactate; postmortem diagnosis. | Exact age at evaluation/death was not reported in the extracted evidence; onset age is used as reported.; Evidence: Text reports Patient 14 with A8344G and \>90% mutant DNA in all tissues examined. |
| 59 | 8344 | m.8344A\>G | A8344G\-F68 | A8344G\-F68\-I1 | Uninf | F | Y | Y | A | 67 | 99% | 81%\-84% | / | 99%(H); 88\-94%(F); 83\-89%(Ovary); 87\-89%(Neurilemoma); 91\-94%(Oviduct); 90\-92%(Cervix); 95%(Uterine adventitia); 89\-92%(Uterine myometrium); 92\-96%(Uterine endometrium) | MERRF; generalized myoclonic jerks from age 30; fatigue and muscle cramps from age 40; multifocal jerks; gait dyssynergia; proximal muscle weakness; bilateral sensorineural hearing impairment; cortical and cerebellar atrophy; pelvic retroperitoneal neurilemoma. | Paper reports mean mutant mtDNA 91\.5% \+/\- 5\.3% across tissues.; Evidence: Case report and Figure 1 quantify A8344G across multiple tissues for the same patient. |
| 60 | 8344 | m.8344A\>G | A8344G\-F69 | A8344G\-F69\-P8 | Fam | ND | Y | Y | ND | ND | / | / | / | / | MERRF; ragged\-red fibers; COX\-negative fibers; no hyperlactacidemia. | Familial inquiry: other case(s) within the family compatible with maternal inheritance; Evidence: Table 1 lists Patient 8 with MERRF, RRF\+, COX\-negative fibers\+, no hyperlactacidemia, and DGGE/PCR\-restriction evidence for heteroplasmic 8344G. |
| 61 | 8344 | m.8344A\>G | A8344G\-F70 | A8344G\-F70\-P10 | Uninf | F | Y | Y | ND | 59 | / | 80% | / | / | MERRF; fatigability or exercise intolerance; myopathy; sensorineural hearing loss; myoclonus; seizures; mental defect; cardiac conduction defect; cardiomyopathy; optic neuropathy; increased lactate on exercise. | ND; Evidence: Table 1 lists Patient 10, female age 59, MERRF, 8344 mutation, 80% mutant mtDNA in muscle. |
| 62 | 8344 | m.8344A\>G | A8344G\-F71 | A8344G\-F71\-P11 | Uninf | M | Y | Y | ND | 36 | / | 90% | / | / | MERRF; fatigability or exercise intolerance; myopathy; ataxia; sensorineural hearing loss; stroke\-like episodes; myoclonus; seizures; mental defect; cardiac conduction defect; cardiomyopathy; optic neuropathy; retinal pigment epithelium macular/posterior pole defect; increased lactate and CSF protein; ragged\-red fibers. | ND; Evidence: Table 1 and case text list Patient 11, male age 36, MERRF, 8344 mutation, 90% mutant mtDNA in muscle. |
| 63 | 8344 | m.8344A\>G | A8344G\-F72 | A8344G\-F72\-III2 | Fam | F | N | Y | A | ND | / | / | / | / | Lipomas; hypertension; diabetes; weakness; EMG myopathy; ataxia. | Blood mutation\-positive; no load reported.; Evidence: Table 1 lists III\-2 as mutation\-positive with lipomas, hypertension, diabetes, weakness, EMG myopathy, and ataxia. |
| 64 | 8344 | m.8344A\>G | A8344G\-F72 | A8344G\-F72\-III4 | Fam | F | N | Y | A | ND | / | / | / | / | Lipomas; hypertension; diabetes; EMG myopathy. | Blood mutation\-positive; no load reported.; Evidence: Table 1 lists III\-4 as mutation\-positive. |
| 65 | 8344 | m.8344A\>G | A8344G\-F72 | A8344G\-F72\-III9 | Fam | M | Y | Y | A | 60 | / | / | / | / | Lipomas; hypertension; diabetes; hearing loss; weakness; EMG myopathy; ataxia; peripheral neuropathy. | Blood, muscle, and lipomatous tissue were mutation\-positive; no numeric load reported.; Evidence: Case report describes the 60\-year\-old Caucasian male proband III\-9 and Table 1 lists mutation\-positive findings. |
| 66 | 8344 | m.8344A\>G | A8344G\-F72 | A8344G\-F72\-III10 | Fam | M | N | Y | A | ND | / | / | / | / | Hypertension; hearing loss; weakness; EMG myopathy; ataxia; peripheral neuropathy. | Blood mutation\-positive; no load reported.; Evidence: Table 1 lists III\-10 as mutation\-positive. |
| 67 | 8344 | m.8344A\>G | A8344G\-F72 | A8344G\-F72\-IV1 | Fam | M | N | Y | A | ND | / | / | / | / | Lipomas; hypertension; weakness; EMG myopathy; ataxia. | Blood mutation\-positive; no load reported.; Evidence: Table 1 lists IV\-1 as mutation\-positive. |
| 68 | 8344 | m.8344A\>G | A8344G\-F72 | A8344G\-F72\-IV5 | Fam | F | N | Y | A | ND | / | / | / | / | Lipomas; hypertension; hearing loss; EMG myopathy; peripheral neuropathy. | Blood mutation\-positive; no load reported.; Evidence: Table 1 lists IV\-5 as mutation\-positive. |
| 69 | 8344 | m.8344A\>G | A8344G\-F73 | A8344G\-F73\-III1 | Fam | F | Y | Y | D | 12 | / | / | / | 92%(Brain) | Leigh syndrome; subacute necrotizing encephalomyelopathy at autopsy; infantile\-onset mild spastic diparesis; clumsiness; pes cavus; mental retardation; papilledema; right facial weakness; nystagmus; appendicular ataxia; reduced vibration; hypertonia; absent tendon reflexes; bilateral Babinski signs; elevated CSF lactate; cardiac arrest. | ND; Evidence: Paraffin\-embedded brain analysis found 92% A8344G mutant mtDNA in proband III\-1\. |
| 70 | 8344 | m.8344A\>G | A8344G\-F74 | A8344G\-F74\-P1 | Fam | F | Y | Y | D | 62 | / | 73% | / | / | MERRF; severe phenotype; mitochondrial myopathy | Evidence: Table 1 lists Patient 1FD, female, died, biopsy age 62 y, maternal inheritance, A8344G tRNALys, 73% mutant genomes in muscle; complex IV residual activity 73%; muscle biopsy used for apoptosis marker study. |
| 71 | 8344 | m.8344A\>G | A8344G\-F75 | A8344G\-F75\-P2 | Fam | F | Y | Y | A | 36 | / | 87% | / | / | MERRF; mitochondrial myopathy | Evidence: Table 1 lists Patient 2F, female, biopsy age 36 y, maternal inheritance, A8344G tRNALys, 87% mutant genomes in muscle; complex IV residual activity 50%; muscle biopsy used for apoptosis marker study. |
| 72 | 8344 | m.8344A\>G | A8344G\-F76 | A8344G\-F76\-P3 | Fam | F | Y | Y | A | 40 | / | 76% | / | / | MERRF; mitochondrial myopathy | Evidence: Table 1 lists Patient 3F, female, biopsy age 40 y, maternal inheritance, A8344G tRNALys, 76% mutant genomes in muscle; complex IV residual activity 68%; muscle biopsy used for apoptosis marker study. |
| 73 | 8344 | m.8344A\>G | A8344G\-F77 | A8344G\-F77\-P4 | Fam | F | Y | Y | A | 2 | / | 77% | / | / | MERRF | Evidence: Table 1 lists Patient 4F, female, biopsy age 2 y, maternal inheritance, A8344G tRNALys, 77% mutant genomes in muscle; mitochondrial myopathy not detected; respiratory\-chain biochemistry normal; muscle biopsy used for apoptosis marker study. |
| 74 | 8344 | m.8344A\>G | A8344G\-F78 | A8344G\-F78\-P5 | Fam | F | Y | Y | A | 30 | / | 85% | / | / | MERRF; mitochondrial myopathy | Evidence: Table 1 lists Patient 5F, female, biopsy age 30 y, maternal inheritance, A8344G tRNALys, 85% mutant genomes in muscle; respiratory\-chain biochemistry normal; muscle biopsy used for apoptosis marker study. |
| 75 | 8344 | m.8344A\>G | A8344G\-F79 | A8344G\-F79\-P2 | Uninf | ND | Y | Y | ND | ND | / | 93\.5%\-93\.8% | / | / | Typical MERRF syndrome | Evidence: Table 1 lists MERRF patient samples 2A and 2B as muscle with 93\.5% and 93\.8% mutant mtDNA; patient notes state 2A and 2B are two different biopsies from the same patient; samples were studied for tRNA aminoacylation. |
| 76 | 8344 | m.8344A\>G | A8344G\-F80 | A8344G\-F80\-P5 | Uninf | ND | Y | Y | ND | ND | / | 92\.6% | / | / | Typical MERRF syndrome | Evidence: Table 1 lists MERRF patient/sample 5 as muscle with 92\.6% mutant mtDNA; sample was studied for tRNA aminoacylation. |
| 77 | 8344 | m.8344A\>G | A8344G\-F81 | A8344G\-F81\-P22 | Fam | ND | N | N | ND | ND | / | 92\.0% | / | / | Healthy | Evidence: Table 1 lists patient/sample 22 as muscle with 92\.0% mutant mtDNA; patient notes describe sample 22 as an asymptomatic relative with ragged\-red fibers; mother and maternal uncle had adult\-onset muscle weakness. |
| 78 | 8344 | m.8344A\>G | A8344G\-F82 | A8344G\-F82\-P23 | Uninf | ND | Y | Y | ND | ND | / | 82\.8% | / | / | Typical MERRF syndrome | Evidence: Table 1 lists MERRF patient/sample 23 as muscle with 82\.8% mutant mtDNA; sample was studied for tRNA aminoacylation. |
| 79 | 8344 | m.8344A\>G | A8344G\-F83 | A8344G\-F83\-P24 | Uninf | ND | Y | Y | ND | ND | / | / | / | 91\.5%(F) | Typical MERRF syndrome | Evidence: Table 1 lists MERRF patient/sample 24 as fibroblasts with 91\.5% mutant mtDNA; fibroblast sample was studied for tRNA aminoacylation. |
| 80 | 8344 | m.8344A\>G | A8344G\-F84 | A8344G\-F84\-P25 | Uninf | ND | Y | Y | ND | ND | / | / | / | 71\.6%(F) | Typical MERRF syndrome | Evidence: Table 1 lists MERRF patient/sample 25 as fibroblasts with 71\.6% mutant mtDNA; fibroblast sample was studied for tRNA aminoacylation. |
| 81 | 8344 | m.8344A\>G | A8344G\-F87 | A8344G\-F87\-P1 | Fam | F | Y | Y | ND | 38 | / | / | / | / | Encephalopathy with ataxia and myoclonic epilepsy; neuropathy; deafness | Heteroplasmic A8344G; numeric heteroplasmy not reported. Affected siblings and other maternal relatives noted in Table 3\. Muscle histology: RRF and COX\-negative fibers; respiratory\-chain deficiency: complexes I\+III. Evidence: page 5 Table 3, A8344G Patient 24\. |
| 82 | 8344 | m.8344A\>G | A8344G\-F88 | A8344G\-F88\-P1 | Fam | M | Y | Y | ND | 18 | / | / | / | / | Skeletal myopathy; encephalopathy with ataxia and myoclonic epilepsy; neuropathy; deafness | Heteroplasmic A8344G; numeric heteroplasmy not reported. Affected siblings, mother, and other maternal relatives noted in Table 3\. High lactate in blood; muscle histology: RRF and COX\-negative fibers. Evidence: page 5 Table 3, A8344G Patient 25\. |
| 83 | 8344 | m.8344A\>G | A8344G\-F89 | A8344G\-F89\-P1 | Uninf | F | Y | Y | D | 39 | / | 90% | / | 81%(Lipoma biopsy); 87%(Frontal brain); 84%(Temporal brain); 82%(Occipital brain); 69%(Adipose tissue); 77%(Lipoma autopsy); 84%(Small intestine) | Encephalo\-enteromyopathy; mitochondrial myopathy; multiple lipomatosis; mild neurosensory hearing loss; stroke\-like episodes with dysarthria/dysphagia, right hemiparesis and cortical blindness; lactic acidosis; paralytic ileus; generalized tonic\-clonic seizure; ventilatory insufficiency | 39\-year\-old woman; MERRF\-8344 diagnosed at age 36 after familial lipomatosis and exercise intolerance since age 20\. Table 1 loads include skeletal muscle biopsy 90%, skeletal muscle autopsy 89%, lipoma biopsy 81%, lipoma autopsy 77%, brain 82\-87%, adipose tissue 69%, and small intestine 84% (two ileum areas 83% and 85%). No pedigree or target\-positive relative mapping in this PDF. |
| 84 | 8344 | m.8344A\>G | A8344G\-F91 | A8344G\-F91\-P1 | Uninf | F | Y | Y | D | 11 months | / | / | / | 100%(Heart muscle); 100%(Liver) | Failure to thrive, delayed development, fatal infantile histiocytoid cardiomyopathy, liver steatosis, retinal hypoplasia, complex I/IV deficiency | Mother not tested; no relevant family history; de novo/germline mosaicism favored but unproven.; Evidence: Pages 1\-2 case report and molecular analysis. |
| 85 | 8344 | m.8344A\>G | A8344G\-F92 | A8344G\-F92\-IV1 | Fam | M | Y | Y | ND | 50 | 70% | 95% | / | 69%(BM) | Progressive muscle weakness, fatigue, unsteadiness, profound weakness, spontaneous muscle contractions, resting tremor, olivopontocerebellar degeneration, occasional myoclonus, limited exercise ability | Age is onset age reported as age 50; evaluation age not fully resolved.; Evidence: Pages 3\-4\. |
| 86 | 8344 | m.8344A\>G | A8344G\-F92 | A8344G\-F92\-III3 | Fam | F | N | ND | ND | ND | 0% | / | / | 6%(BM) | ND | Mother of index case; two blood specimens negative, buccal positive at 6%.; Evidence: Page 3 DNA mutation analysis. |
| 87 | 8344 | m.8344A\>G | A8344G\-F92 | A8344G\-F92\-IV10 | Fam | M | N | Y | ND | 39 | 31% | / | / | 57%(BM) | Seizures, unsteadiness, spontaneous muscle contractions, muscle weakness, neck fatty tumor | Cigarette smoker; F2\-isoprostane 108 pg/ml; smoking is a confounder for oxidative injury marker.; Evidence: Page 3 case report 2\. |
| 88 | 8344 | m.8344A\>G | A8344G\-F92 | A8344G\-F92\-IV16 | Fam | M | N | N | ND | 22 | 46% | / | / | 62%(BM) | Healthy | Described as healthy and active; hypertension reported; moderate heteroplasmy and elevated F2\-isoprostanes.; Evidence: Page 3 case report 3\. |
| 89 | 8344 | m.8344A\>G | A8344G\-F92 | A8344G\-F92\-III9 | Fam | F | N | ND | ND | ND | / | / | / | 15%(ND) | ND | Reported 15% heteroplasmy and transmitted the mutation to all three sons.; Evidence: Page 2 selected case reports. |
| 90 | 8344 | m.8344A\>G | A8344G\-F92 | A8344G\-F92\-IV8 | Fam | M | N | ND | ND | ND | / | / | / | / | ND | Target\-positive by maternal transmission statement; exact tissue/load not extracted.; Evidence: Page 2 selected case reports. |
| 91 | 8344 | m.8344A\>G | A8344G\-F92 | A8344G\-F92\-IV9 | Fam | M | N | ND | ND | ND | / | / | / | / | ND | Target\-positive by maternal transmission statement; exact tissue/load not extracted.; Evidence: Page 2 selected case reports. |
| 92 | 8344 | m.8344A\>G | A8344G\-F93 | A8344G\-F93\-P1 | Uninf | ND | Y | Y | D | 22 | / | / | / | 76%(Liver) | MERRF | Died at age 22 in 1971 at Niigata University Hospital; reported as the first Japanese MERRF case in 1980\. Sex and family history are not reported in this paper.; Evidence: Section 2\.2 and Fig. 4\. |
| 93 | 8344 | m.8344A\>G | A8344G\-F94 | A8344G\-F94\-P1 | Uninf | M | Y | Y | A | 30 | / | 86% | / | / | MERRF, encephalopathy, ataxia, exercise intolerance | Subject completed aerobic training; no adverse increase in muscle mutation load reported. Likely duplicate/follow\-up with PMID19486129 patient \#4\.; Evidence: Page 2 Table 1: subject 7, 8344A\>G, M/30, muscle load 86%, MERRF, encephalopathy, ataxia, EI. |
| 94 | 8344 | m.8344A\>G | A8344G\-F95 | A8344G\-F95\-III2 | Fam | M | Y | Y | A | 14 | 35% | / | / | / | MERRF syndrome | Also carried A16182C at 61% in blood; additional tissue loads were plotted but not tabulated.; Evidence: Page 1 Subjects and page 2 Figure 1A. |
| 95 | 8344 | m.8344A\>G | A8344G\-F95 | A8344G\-F95\-III1 | Fam | F | N | Y | A | 29 | 2% | / | / | / | Occasional seizures | Also carried A16182C at 99% in blood; single\-fibroblast data showed tetraplasmy.; Evidence: Page 1 Subjects and page 2 Figure 1A/D. |
| 96 | 8344 | m.8344A\>G | A8344G\-F95 | A8344G\-F95\-II2 | Fam | F | N | N | A | ND | 1% | / | / | / | Healthy | Symptom\-free; blood also carried A16182C at 100%.; Evidence: Page 1 Subjects and page 2 Figure 1A/C. |
| 97 | 8344 | m.8344A\>G | A8344G\-F95 | A8344G\-F95\-II1 | Fam | F | N | N | A | ND | 10% | / | / | / | Healthy | Symptom\-free; blood also carried A16182C at 67%.; Evidence: Page 1 Subjects and page 2 Figure 1A. |
| 98 | 8344 | m.8344A\>G | A8344G\-F96 | A8344G\-F96\-II1 | Fam | M | Y | Y | A | 22 | 33% | 35% | 39% | 35%(BM) | Progressive limb myoclonus, generalized seizures, sensorineural hearing loss, short stature, bilateral hearing loss, mild hyperlactatemia, mild respiratory\-chain deficiency, no ragged\-red fibers | Molecular diagnosis despite normal histochemistry; levetiracetam improved myoclonus.; Evidence: Pages 1\-2 case report and molecular analysis. |
| 99 | 8344 | m.8344A\>G | A8344G\-F96 | A8344G\-F96\-I1 | Uninf | F | N | N | A | ND | 25% | / | / | / | Healthy | Only blood testing was reported.; Evidence: Page 2: asymptomatic mother's blood positive at 25%. |
| 100 | 8344 | m.8344A\>G | A8344G\-F97 | A8344G\-F97\-P1 | Uninf | M | Y | Y | A | 24 | / | / | / | / | MERRF, cerebellar symptoms from age 8, muscular weakness, mental deterioration, myoclonus, ophthalmoparesis, brain\-stem and cerebellar atrophy | Ages 22 and 24 MRI described; mutation load not reported.; Evidence: Page 2 Patient 1 case report. |
| 101 | 8344 | m.8344A\>G | A8344G\-F98 | A8344G\-F98\-P2 | Uninf | F | Y | Y | A | 52 | / | / | / | / | MERRF, cerebellar ataxia, hearing loss, muscular weakness, mental deterioration, cataract, pigmented retinopathy, brain\-stem and cerebellar atrophy | A8344G confirmed at age 48; age 52 MRI described.; Evidence: Page 3 Patient 2 case report. |
| 102 | 8344 | m.8344A\>G | A8344G\-F99 | A8344G\-F99\-II2 | Fam | M | Y | Y | A | 53 | / | / | / | / | MERRF, cerebellar ataxia, mental deterioration, recurrent seizures, myoclonus, recurrent loss of consciousness, stroke\-like episode with right hemianopia and aphasia, cerebellar atrophy | Older sister with A8344G\-MERRF supports familial status; no mutation load reported.; Evidence: Pages 3\-4 Patient 3 case report. |
| 103 | 8344 | m.8344A\>G | A8344G\-F100 | A8344G\-F100\-P3 | Uninf | M | Y | Y | A | 15 | / | 89% | / | / | Progressive muscle weakness, paresthesia, generalized muscle hypotrophy, hyporeflexia, myopathic EMG, increased lactate, MERRF\-spectrum myopathy | No mental deterioration; EEG and cardiac evaluation normal. Table 1 labels myopathy moderate.; Evidence: Page 2 case report and page 3 Table 1\. |
| 104 | 8344 | m.8344A\>G | A8344G\-F101 | A8344G\-F101\-I1 | Uninf | F | Y | Y | A | 63 | 46% | 82% | / | / | Postpartum psychosis, recurrent major depression, suicidal ideation, proximal limb\-girdle weakness, multiple lipomatosis, hypoacusis, proximal muscle atrophy and weakness, ataxia, mild memory impairment, anxiety, axonal neuropathy | Muscle biopsy showed 12% ragged\-red and COX\-negative fibers.; Evidence: Page 1 Patient 1 description and heteroplasmy values. |
| 105 | 8344 | m.8344A\>G | A8344G\-F101 | A8344G\-F101\-II1 | Fam | M | N | Y | A | 43 | 58% | 79% | / | / | Depressive episodes with anxiety, progressive limb\-girdle weakness, hypoacusis, dysarthria, proximal muscle weakness, distal sensory impairment, ataxia, depressed mood, axonal sensorimotor neuropathy | One of the twin sons of Patient 1\. Elevated serum and CSF lactate, myopathic EMG, and muscle biopsy myopathic changes with pleomorphic mitochondria are diagnostic/nonclinical findings moved out of Clinical Features.; Evidence: Page 1 Patient 2 description and heteroplasmy values. |
| 106 | 8344 | m.8344A\>G | A8344G\-F101 | A8344G\-F101\-II2 | Fam | M | N | Y | A | 43 | 44% | 63% | / | / | Severe anxiety and phobic manifestations at age 18, presently asymptomatic | Other twin son of Patient 1; reported as currently asymptomatic but with prior psychiatric manifestation. Muscle biopsy showed minor nonspecific changes.; Evidence: Page 1 Patient 3 description and heteroplasmy values. |
| 107 | 8344 | m.8344A\>G | A8344G\-F102 | A8344G\-F102\-P1 | Uninf | M | Y | Y | A | 18 months | 92% | 88% | / | 87%(F) | Infantile psychomotor regression, cavitating leukoencephalopathy, bilateral cataracts, nystagmus, hypertonia, Babinski signs, swallowing and feeding difficulties, ragged\-red fibers | Follow\-up at 33 months showed partial improvement; mother was negative in blood and urine.; Evidence: Pages 2\-3: male child with clinical course and A8344G loads in blood, muscle, and cultured fibroblasts. |
| 108 | 8344 | m.8344A\>G | A8344G\-F103 | A8344G\-F103\-P1 | Fam | F | Y | Y | A | ND | 75% | / | 85% | 95%(BM) | Occasional myoclonic jerks | Reproductive PGD for familial MERRF risk; mother's brother died of MERRF; embryo and polar\-body heteroplasmy data are not entered as carriers. Evidence: Page 2: Couple 2 female partner with m.8344A\>G tissue loads and occasional myoclonic jerks. |
| 109 | 8344 | m.8344A\>G | A8344G\-F104 | A8344G\-F104\-P1 | Uninf | F | ND | Y | D | 42 | / | / | / | 92%(Vascular smooth muscle cells); 90%(Endothelial cells) | MERRF, myopathy, myoclonus, depression, cerebellar microangiopathy | Age at death 42; disease duration 37 years; likely duplicate of PMID22249460 Pt8\.; Evidence: Tables 1 and 3: Pt9, female, age at death 42, m.8344A\>G, vascular/endothelial loads. |
| 110 | 8344 | m.8344A\>G | A8344G\-F105 | A8344G\-F105\-P1 | Uninf | M | ND | Y | D | 58 | / | 91% | / | 88%(Vascular smooth muscle cells); 86%(Endothelial cells) | MERRF, myopathy, myoclonus, cerebellar microangiopathy | Age at death 58; disease duration 20 years.; Evidence: Tables 1 and 3: Pt10, male, age at death 58, m.8344A\>G, muscle and vascular/endothelial loads. |
| 111 | 8344 | m.8344A\>G | A8344G\-F106 | A8344G\-F106\-P1 | Uninf | M | ND | Y | ND | 29 | / | 86% | / | / | Ataxia, epilepsy | Table 1: PSS 2; CNF 9\.7; RRF 4\.0; COX\-negative 1\.7; nMHC\-positive 0\.5; Apo 0\.2\.; Evidence: Table 1, patient 47\. |
| 112 | 8344 | m.8344A\>G | A8344G\-F107 | A8344G\-F107\-P1 | Uninf | M | ND | Y | ND | 60 | / | 84% | / | / | Exercise intolerance | Table 1: PSS 1; CNF 12\.9; RRF 5\.2; COX\-negative 2\.1; nMHC\-positive 6\.2; Apo 0\.2\.; Evidence: Table 1, patient 48\. |
| 113 | 8344 | m.8344A\>G | A8344G\-F108 | A8344G\-F108\-P1 | Uninf | F | ND | Y | ND | 25 | / | 99% | / | / | Ataxia, exercise intolerance, encephalopathy, lipomas | Table 1: PSS 3; CNF 3\.2; RRF 11\.0; COX\-negative 0\.0; nMHC\-positive 24\.5; Apo 0\.0\.; Evidence: Table 1, patient 49\. |
| 114 | 8344 | m.8344A\>G | A8344G\-F109 | A8344G\-F109\-P1 | Uninf | F | ND | Y | ND | 17 | / | 78% | / | / | Acromegaly, encephalopathy | Table 1: PSS 3; CNF 1\.1; RRF 2\.4; COX\-negative 0\.0; nMHC\-positive 0\.0; Apo 0\.6\.; Evidence: Table 1, patient 50\. |
| 115 | 8344 | m.8344A\>G | A8344G\-F110 | A8344G\-F110\-P1 | Uninf | F | ND | Y | ND | 46 | / | 85% | / | / | Exercise intolerance | Table 1: PSS 3; CNF 1\.2; RRF 0\.1; COX\-negative 0\.2; nMHC\-positive 1\.6; Apo 0\.0\.; Evidence: Table 1, patient 51\. |
| 116 | 8344 | m.8344A\>G | A8344G\-F111 | A8344G\-F111\-P1 | Uninf | M | ND | Y | ND | 51 | / | 63% | / | / | Lipomas | Table 1: PSS 3; CNF 3\.0; RRF 0\.4; COX\-negative 0\.3; nMHC\-positive 0\.3; Apo 0\.0\.; Evidence: Table 1, patient 52\. |
| 117 | 8344 | m.8344A\>G | A8344G\-F112 | A8344G\-F112\-P1 | Uninf | M | ND | Y | ND | 27 | / | 99% | / | / | Ataxia, epilepsy, exercise intolerance | Table 1: PSS 3; CNF 2\.0; RRF 0\.8; COX\-negative 6\.0; nMHC\-positive n.d.; Apo n.d.; Evidence: Table 1, patient 53\. |
| 118 | 8344 | m.8344A\>G | A8344G\-F113 | A8344G\-F113\-P1 | Fam | F | N | ND | A | ND | 35% | / | 35% | / | ND | Patient 5 mother; prenatal testing requested after previously affected child; maternal m.8344A\>G loads 35% blood and 35% urine; CVB result 46% m.8344A\>G with clinical outcome data not available. Evidence: Table 1 page 3\. |
| 119 | 8344 | m.8344A\>G | A8344G\-F114 | A8344G\-F114\-III2 | Fam | F | Y | Y | A | 38 | / | / | / | / | Adult\-onset Leigh syndrome, optic neuropathy, progressive weakness, cognitive impairment, myopathy, bilateral putaminal necrosis, elevated lactate, impaired glucose tolerance/diabetes, multiple lipomas, seizures/status epilepticus, ophthalmoplegia, dysphagia, respiratory depression | Blood PCR/sequencing positive; mutational load not measured.; Evidence: Pages 1\-3\. |
| 120 | 8344 | m.8344A\>G | A8344G\-F114 | A8344G\-F114\-III1 | Fam | F | N | Y | A | 42 | / | / | / | / | Bilateral optic neuropathy, extremity weakness, dysarthria, forgetfulness/cognitive impairment, Leigh\-like basal ganglia lesions | Elder sister of proband; blood PCR/sequencing positive; mutational load not measured.; Evidence: Pages 1 and 3\. |
| 121 | 8344 | m.8344A\>G | A8344G\-F114 | A8344G\-F114\-III3 | Fam | F | N | N | A | 30 | / | / | / | / | Healthy | Unaffected sister age 30; m.8344A\>G positive by family blood PCR/sequencing; mutational load not measured. Evidence: Pages 1 and 3/Fig.2\. |
| 122 | 8344 | m.8344A\>G | A8344G\-F114 | A8344G\-F114\-II1 | Fam | M | N | Y | A | 65 | / | / | / | / | Visual loss/optic neuropathy | Maternal uncle age 65; m.8344A\>G positive by family blood PCR/sequencing; mutational load not measured. Evidence: Pages 1 and 3/Fig.2\. |
| 123 | 8344 | m.8344A\>G | A8344G\-F129 | A8344G\-F129\-P6 | Uninf | M | Y | Y | A | 52 | 54\.0% | 67\.2% | / | / | Exercise intolerance; lower/upper limb weakness; orbicularis oculi weakness; dysarthria | Adult onset at 49 years.; Elevated CK 857 IU/L; follow\-up worsened/ambulatory.; Evidence: Tables 1\-2, pages 5\-6\. |
| 124 | 8344 | m.8344A\>G | A8344G\-F130 | A8344G\-F130\-P7 | Uninf | M | Y | Y | A | 66 | / | 20\.6% | / | / | Exercise intolerance; lower/upper limb weakness; neck flexor weakness; proximal muscle atrophy; dysarthria | Adult onset at 51 years.; Elevated CK 1733 IU/L.; Evidence: Tables 1\-2, pages 5\-6\. |
| 125 | 8344 | m.8344A\>G | A8344G\-F131 | A8344G\-F131\-P8 | Uninf | M | Y | Y | A | 54 | 10\.7% | 48\.1% | 13\.4% | / | Lower/upper limb weakness; orbicularis oculi weakness; neck flexor weakness; myalgia; proximal and distal muscle atrophy; dysarthria; dysphagia | Adult onset at 45 years.; Follow\-up worsened.; Evidence: Tables 1\-2, pages 5\-6\. |
| 126 | 8344 | m.8344A\>G | A8344G\-F132 | A8344G\-F132\-P9 | Fam | M | Y | Y | A | 33 | 48\.2% | 82\.7% | / | / | Exercise intolerance | Adult onset at 27 years; positive maternal family history; follow\-up stable/ambulatory after treatment; younger brother with MELAS was not given a target mutation test result in this paper.; Evidence: Tables 1\-2 and text, pages 4\-6\. |
| 127 | 8344 | m.8344A\>G | A8344G\-F133 | A8344G\-F133\-P1 | Uninf | F | Y | Y | A | 40 | / | / | / | 29\.8%(iPSC) | MERRF syndrome; deafness/hearing impairment reported as associated disease | Mutation percentage may reflect fibroblast\-derived iPSC line confirmation rather than a standard clinical tissue load.; Evidence: Resource Table page 1; resource details page 2\. |
| 128 | 8344 | m.8344A\>G | A8344G\-F134 | A8344G\-F134\-II1 | Fam | M | Y | Y | A | 32 | 93% | / | 99% | 95%(Saliva); 92%(BM); 91%(F); 84%(F) | Klinefelter syndrome, gait impairment, dysphagia, ataxia, myoclonus, spasticity, intention tremor, optic atrophy/visual impairment, hypogonadism, hearing loss, tonic\-clonic seizure, aspiration pneumonia, brainstem/basal ganglia lesions | Original label L\-10878; high mutant load across tissues; symptoms improved after genotype\-driven treatment.; Evidence: Pages 3, 5\-6\. |
| 129 | 8344 | m.8344A\>G | A8344G\-F134 | A8344G\-F134\-I2 | Uninf | F | N | N | A | ND | 65% | / | 82% | 76%(Saliva); 73%(BM); 71%(F); 37%(F) | Healthy | Original label L\-10879; age not reported; asymptomatic by semi\-structured interview/medical history.; Evidence: Pages 3 and 6\. |
| 130 | 8344 | m.8344A\>G | A8344G\-F134 | A8344G\-F134\-II2 | Fam | M | N | N | A | ND | 66% | / | 84% | 67%(Saliva); 77%(BM); 61%(F); 26%(F) | Healthy | Original label L\-10881; age not reported; asymptomatic by semi\-structured interview/medical history.; Evidence: Pages 3 and 6\. |
| 131 | 8344 | m.8344A\>G | A8344G\-F135 | A8344G\-F135\-P1 | Uninf | M | Y | Y | A | 48 | / | / | / | 66%(F) | MERRF syndrome | Fibroblast\-derived induced\-neuron model; heteroplasmy remained stable during reprogramming.; Evidence: Methods page 10; results page 19\. Detailed clinical phenotype not reported. |
| 132 | 8344 | m.8344A\>G | A8344G\-F136 | A8344G\-F136\-P1 | Uninf | M | Y | Y | A | 41 | / | / | / | 38%(F) | MERRF syndrome | Fibroblast\-derived induced\-neuron model; heteroplasmy remained stable during reprogramming.; Evidence: Methods page 10; results page 19\. Detailed clinical phenotype not reported. |
| 133 | 8344 | m.8344A\>G | A8344G\-F137 | A8344G\-F137\-P1 | Uninf | F | ND | Y | ND | 61 | / | / | / | / | MERRF with leukoencephalopathy, myopathy, and epilepsy | Table 1 reports 10% COX\-negative fibers, FGF21 1716 pg/ml, and GDF15 13248 pg/ml; these are not A8344G mutation loads.; Evidence: PMID32504279 Table 1, page 4 text extraction: Patient 59, F, age 61, tRNALys m.8344A\>G. |
| 134 | 8344 | m.8344A\>G | A8344G\-F138 | A8344G\-F138\-P1 | Uninf | M | ND | Y | ND | 62 | / | / | / | / | Chronic progressive external ophthalmoplegia | Table 1 reports muscle histology as NE, FGF21 209 pg/ml, and GDF15 1517 pg/ml; these are not A8344G mutation loads.; Evidence: PMID32504279 Table 1, page 4 text extraction: Patient 65, M, age 62, tRNALys m.8344A\>G. |
| 135 | 8344 | m.8344A\>G | A8344G\-F139 | A8344G\-F139\-P3 | Uninf | ND | ND | Y | ND | 15 | 90\.8% | / | / | / | Leigh syndrome; disease onset at 5 years | Age is age at PBMC/platelet respiration sampling; molecular testing sample age was 5 years. Sex was not individually mapped in the table.; Evidence: PMID34536563 Table 2, page 3: Patient \#3, MT\-TK m.8344A\>G (HF\=0\.908\), Leigh syndrome, onset 5 y, sampling 15 y. |
| 136 | 8344 | m.8344A\>G | A8344G\-F140 | A8344G\-F140\-P1 | Uninf | ND | ND | Y | ND | 0\.3 | / | / | / | 2\.1%(Saliva) | Seizures | Kindred 19; age is age at tissue collection; maternal tissue testing ND.; Evidence: PMID34969639 Table 1, page 4: Case 24 saliva m.8344A\>G 2\.1%. |
| 137 | 8344 | m.8344A\>G | A8344G\-F141 | A8344G\-F141\-P1 | Uninf | ND | ND | Y | ND | 29 | 52% | / | / | / | MERRF, chronic respiratory failure | Kindred 20; age is age at tissue collection; maternal tissue testing ND.; Evidence: PMID34969639 Table 1 continuation, page 5: Case 25 blood m.8344A\>G 52%. |
| 138 | 8344 | m.8344A\>G | A8344G\-F142 | A8344G\-F142\-III2 | Fam | M | Y | Y | A | 53 | 59\.6% | 25\.2% | 61\.3% | / | HyperCKemia, myopathy, diabetes, lipomas, ragged\-red and COX\-negative fibers, no CNS involvement | Abstract describes presentation at 53 years; pedigree labels the proband as 58 y.o.; Evidence: PMID36675808 pages 1, 3, 4: proband clinical description and Figure 1B PCR\-RFLP loads. |
| 139 | 8344 | m.8344A\>G | A8344G\-F142 | A8344G\-F142\-III1 | Fam | F | N | Y | A | 60 | 12\.1% | / | 0% | / | Mild bilateral ptosis, thyroid dysfunction, no CNS symptoms | No skeletal muscle biopsy; no mutation detected in urine.; Evidence: PMID36675808 abstract, Figure 1A/1B, and page 4 text: elder sister age 60, blood 12\.1%, urine not detected. |
| 140 | 8344 | m.8344A\>G | A8344G\-F142 | A8344G\-F142\-III3 | Fam | F | N | N | A | 50 | 35% | / | 18% | / | Healthy | Colon cancer was reported in the pedigree but is not treated as the target mitochondrial phenotype.; Evidence: PMID36675808 abstract, Figure 1A/1B, and page 4 text: younger sister age 50, blood 35%, urine 18%. |
| 141 | 8344 | m.8344A\>G | A8344G\-F60 | A8344G\-F60\-II2 | Fam | M | Y | Y | D | 60 | positive; load not reported | / | / | / | MERRF | II\-2 proband |
| 142 | 8344 | m.8344A\>G | A8344G\-F60 | A8344G\-F60\-II5 | Fam | F | N | N | A | 65 | positive; load not reported | / | / | / | Healthy | II\-5; mutation\-positive; mother of III\-5 |
| 143 | 8344 | m.8344A\>G | A8344G\-F60 | A8344G\-F60\-III3 | Fam | F | N | N | A | 27 | positive; load not reported | / | / | / | Healthy | III\-3; mutation\-positive; daughter of II\-5 |
| 144 | 8344 | m.8344A\>G | A8344G\-F60 | A8344G\-F60\-III5 | Fam | F | N | Y | A | 40 | positive; load not reported | / | / | / | myoclonus epilepsy; slight dementia; no muscular wasting | III\-5; mutation\-positive; niece of proband; daughter of II\-5; muscle biopsy showed ragged\-red fibers |
| 145 | 8344 | m.8344A\>G | A8344G\-F60 | A8344G\-F60\-IV7 | Fam | M | N | Y | A | 17 | positive; load not reported | / | / | / | myoclonic jerks; mental retardation | IV\-7; mutation\-positive; son of III\-5 |
| 146 | 8344 | m.8344A\>G | A8344G\-F44 | A8344G\-F44\-I1 | Uninf | F | Y | Y | ND | 23 | positive | positive | / | / | Severe stimulus\-sensitive/action myoclonus, tonic\-clonic seizures, mental deterioration, severe cerebellar syndrome, late hearing loss and optic atrophy | Patient 16\. |
| 147 | 8344 | m.8344A\>G | A8344G\-F44 | A8344G\-F44\-II1 | Fam | F | N | N | ND | ND | positive | / | / | / | Healthy | Only daughter of Patient 16; blood\-lymphocyte mutation reported among Patient 16 relatives; no individual age/load reported. |
| 148 | 8344 | m.8344A\>G | A8344G\-F45 | A8344G\-F45\-II1 | Uninf | M | Y | Y | D | 24 | / | positive | / | / | Severe action myoclonus, ataxia, sporadic tonic\-clonic seizures, optic atrophy, pyramidal signs | Patient 17; died 8 years after onset. |
| 149 | 8344 | m.8344A\>G | A8344G\-F45 | A8344G\-F45\-II2 | Uninf | M | N | Y | ND | ND | positive | positive | / | / | Minimal clinical signs, occasional jerks, generalized spike\-and\-wave EEG discharges, RRF | Brother relationship is inconsistent in text (brother of Patient 17 vs Patient 16\); mutation reported in both muscle and lymphocyte mtDNA. |
| 150 | 8344 | m.8344A\>G | A8344G\-F28 | A8344G\-F28\-II4 | Fam | F | N | Y | ND | 86 | 33% lymphocytes | / | / | / | Dementia and hearing loss | Figure\-positive carrier; counted in H |
| 151 | 8344 | m.8344A\>G | A8344G\-F28 | A8344G\-F28\-II5 | Fam | M | N | Y | ND | 85 | 33% lymphocytes | / | / | / | Dementia and hearing loss | Carrier but male branch does not extend mtDNA eligibility to children |
| 152 | 8344 | m.8344A\>G | A8344G\-F28 | A8344G\-F28\-II6 | Fam | F | N | Y | ND | 83 | 10% lymphocytes | 14% | / | 7%(F) | Senile dementia/hearing loss | Table 2/3 multi\-tissue carrier. Removed from Clinical Features: Senile dementia/hearing loss; low\-level carrier |
| 153 | 8344 | m.8344A\>G | A8344G\-F28 | A8344G\-F28\-II2 | Fam | F | N | N | ND | 90 | 0 | / | / | / | Healthy at 90 | Eligible negative\-tested child under inferred\-positive mother; branch stop |
| 154 | 8344 | m.8344A\>G | A8344G\-F28 | A8344G\-F28\-III11 | Fam | M | N | N | ND | 60 | 0 | / | / | / | No listed clinical features | Eligible negative\-tested child of carrier II\-4; branch stop |
| 155 | 8344 | m.8344A\>G | A8344G\-F28 | A8344G\-F28\-III12 | Fam | M | N | N | ND | 65 | 0 | / | / | / | No listed clinical features | Eligible negative\-tested child of carrier II\-4; branch stop |
| 156 | 8344 | m.8344A\>G | A8344G\-F28 | A8344G\-F28\-III13 | Fam | F | N | N | ND | 62 | 28% lymphocytes | / | / | / | No clinical features reported | Figure\-positive carrier |
| 157 | 8344 | m.8344A\>G | A8344G\-F28 | A8344G\-F28\-III14 | Fam | F | N | N | ND | 59 | 14% lymphocytes | / | / | / | No clinical features reported | Figure\-positive carrier |
| 158 | 8344 | m.8344A\>G | A8344G\-F28 | A8344G\-F28\-III15 | Fam | F | N | N | ND | 59 | 0 | / | / | / | No listed clinical features | Eligible negative\-tested child; branch stop |
| 159 | 8344 | m.8344A\>G | A8344G\-F28 | A8344G\-F28\-III21 | Fam | F | N | Y | ND | 59 | 73% lymphocytes | / | / | / | Hearing loss and large lipomas | Figure\-positive carrier |
| 160 | 8344 | m.8344A\>G | A8344G\-F28 | A8344G\-F28\-III23 | Fam | M | N | N | ND | 48/58 reported in tables | 0 | 0 | / | 0%(F) | No listed clinical features | Eligible negative\-tested child of carrier II\-6; branch stop |
| 161 | 8344 | m.8344A\>G | A8344G\-F28 | A8344G\-F28\-IV7 | Fam | F | N | N | ND | 35 | 0 | / | / | / | No listed clinical features | Eligible negative\-tested descendant; branch stop |
| 162 | 8344 | m.8344A\>G | A8344G\-F28 | A8344G\-F28\-IV9 | Fam | F | N | Y | ND | 29 | 72% lymphocytes | / | / | / | Slight lower\-extremity ataxia | Figure\-positive carrier |
| 163 | 8344 | m.8344A\>G | A8344G\-F28 | A8344G\-F28\-IV10 | Fam | F | N | N | ND | 28 | 49% lymphocytes | / | / | / | No clinical features reported | Figure\-positive carrier |
| 164 | 8344 | m.8344A\>G | A8344G\-F28 | A8344G\-F28\-IV11 | Fam | F | N | N | ND | 24 | 15% lymphocytes | / | / | / | No clinical features reported | Figure\-positive carrier |
| 165 | 8344 | m.8344A\>G | A8344G\-F28 | A8344G\-F28\-IV13 | Fam | F | N | N | ND | 32 | 0 | / | / | / | No listed clinical features | Eligible negative\-tested descendant; branch stop |
| 166 | 8344 | m.8344A\>G | A8344G\-F28 | A8344G\-F28\-IV14 | Fam | F | N | N | ND | 31 | 54% lymphocytes | / | / | / | No clinical features reported | Figure\-positive carrier |
| 167 | 8344 | m.8344A\>G | A8344G\-F28 | A8344G\-F28\-IV15 | Fam | M | N | N | ND | 37 | 0 | / | / | / | No listed clinical features | Eligible negative\-tested descendant; branch stop |
| 168 | 8344 | m.8344A\>G | A8344G\-F28 | A8344G\-F28\-IV21 | Fam | F | N | Y | ND | 37 | 72% lymphocytes | 80% | / | 62%(F) | Multiple symmetric lipomas; no neuromuscular signs | Mother of proband |
| 169 | 8344 | m.8344A\>G | A8344G\-F28 | A8344G\-F28\-V1 | Fam | M | Y | Y | ND | 16 | 43% at 13 y; 88% at 15 y | 94% at 10/13 y; 95% at 15 y | / | 41%(F) at 15 y | MERRF with myoclonus, seizures, dementia, ataxia, spasticity, optic atrophy, hearing loss | Family A proband |
| 170 | 8344 | m.8344A\>G | A8344G\-F28 | A8344G\-F28\-V2 | Fam | M | N | Y | ND | 13 | 77% lymphocytes | 92% | / | 66%(F) | Exercise\-induced muscle pain/fatigue; myopathy | Brother of proband |
| 171 | 8344 | m.8344A\>G | A8344G\-F28 | A8344G\-F28\-V3 | Fam | M | N | N | ND | 5 | 74% lymphocytes | / | / | / | No clinical features reported | Figure\-positive child of carrier IV\-21 |
| 172 | 8344 | m.8344A\>G | A8344G\-F28 | A8344G\-F28\-V4 | Fam | M | N | N | ND | 3 | 46% lymphocytes | / | / | / | No clinical features reported | Figure\-positive child of carrier IV\-21 |
| 173 | 8344 | m.8344A\>G | A8344G\-F29 | A8344G\-F29\-I1 | Uninf | F | N | N | ND | 70 | 43% lymphocytes | / | / | / | No clinical features reported | Founder carrier |
| 174 | 8344 | m.8344A\>G | A8344G\-F29 | A8344G\-F29\-II2 | Fam | F | N | N | ND | 46 | 51% lymphocytes | / | / | / | No clinical features reported | Carrier |
| 175 | 8344 | m.8344A\>G | A8344G\-F29 | A8344G\-F29\-II3 | Fam | M | N | Y | ND | 44 | 82% lymphocytes | / | / | / | Ataxia, myopathy, pes cavus | Carrier |
| 176 | 8344 | m.8344A\>G | A8344G\-F29 | A8344G\-F29\-II5 | Fam | F | N | N | ND | 42 | 66% lymphocytes | 73% | / | 50%(F) | Healthy/no neuromuscular signs; RRF/COX\-deficient fibers present | Mother of proband |
| 177 | 8344 | m.8344A\>G | A8344G\-F29 | A8344G\-F29\-II6 | Fam | F | N | N | ND | 38 | 63% lymphocytes | / | / | / | Pes cavus only; otherwise healthy | Carrier |
| 178 | 8344 | m.8344A\>G | A8344G\-F29 | A8344G\-F29\-III5 | Fam | M | Y | Y | ND | 23 | 80% lymphocytes | 96% | / | 54%(F) | MERRF with myoclonus, ataxia, myopathy, pes cavus | Family B proband |
| 179 | 8344 | m.8344A\>G | A8344G\-F29 | A8344G\-F29\-III6 | Fam | M | N | N | ND | 20 | 50% lymphocytes | 61% | / | 48%(F) | Healthy/no neuromuscular signs | Brother of proband |
| 180 | 8344 | m.8344A\>G | A8344G\-F29 | A8344G\-F29\-III8 | Fam | M | N | N | ND | 8 | 59% lymphocytes | / | / | / | No clinical features reported | Figure\-positive child of carrier II\-6 |
| 181 | 8344 | m.8344A\>G | A8344G\-F30 | A8344G\-F30\-II2 | Fam | M | Y | Y | ND | 20 | 91% at 17 y; 90% at 20 y | 95% at 17 y; 96% at 20 y | / | 91%(F) at 17 y | MERRF with vision/hearing loss, myoclonus, seizures, dementia, dysarthria, spastic paraparesis, optic atrophy | Family declined further investigation |
| 182 | 8344 | m.8344A\>G | A8344G\-F115 | A8344G\-F115\-II1 | Fam | F | Y | Y | D | 71 | 70% | 75% | / | / | Exercise intolerance, lactic acidosis, muscle weakness, respiratory involvement, myoclonus, cognitive deterioration, cardiac involvement | Died after disease course; patient\-family mapping unavailable |
| 183 | 8344 | m.8344A\>G | A8344G\-F115 | A8344G\-F115\-II2 | Fam | F | Y | Y | A | 61 | 62% | 76% | / | / | Exercise intolerance, lactic acidosis, muscle weakness, respiratory involvement, seizures, psychiatric involvement, dysrhythmia/deafness | Patient\-family mapping unavailable |
| 184 | 8344 | m.8344A\>G | A8344G\-F115 | A8344G\-F115\-II3 | Fam | F | Y | Y | A | 53 | 76% | 87% | / | / | Exercise intolerance, lactic acidosis, weakness, neuropathy, respiratory involvement, seizures, cardiomyopathy/deafness | Patient\-family mapping unavailable |
| 185 | 8344 | m.8344A\>G | A8344G\-F115 | A8344G\-F115\-II4 | Fam | M | Y | Y | D | 32 | / | 75% first and second biopsy | / | / | Exercise intolerance, lactic acidosis, weakness, respiratory involvement, myoclonus, seizures, cognitive impairment, cardiomyopathy/liver involvement | Blood not done; died |
| 186 | 8344 | m.8344A\>G | A8344G\-F115 | A8344G\-F115\-II5 | Fam | F | Y | Y | A | 32 | / | 75% | / | 13%(F) | Multiple lipomas, endocrine involvement | Patient\-family mapping unavailable |
| 187 | 8344 | m.8344A\>G | A8344G\-F115 | A8344G\-F115\-II6 | Fam | F | Y | Y | D | 16 | 30% | 88% | / | / | Exercise intolerance, severe lactic acidosis, photo\-paroxysmal episodes, metabolic failure/epileptic status | Died at 16 |
| 188 | 8344 | m.8344A\>G | A8344G\-F115 | A8344G\-F115\-II7 | Fam | F | Y | Y | D | 53 | 80% | 85% | / | / | Myo\-cardiomyopathy; lactic acidosis/cardiorespiratory failure | Died; patient\-family mapping unavailable |
| 189 | 8344 | m.8344A\>G | A8344G\-F115 | A8344G\-F115\-II8 | Fam | F | Y | N | A | 53 | / | 50% | / | / | Healthy | Text states Pt8 was non\-symptomatic |
| 190 | 8344 | m.8344A\>G | A8344G\-F115 | A8344G\-F115\-II9 | Fam | F | Y | Y | A | 32 | 25% | 10% | / | / | Mild symptomatic | Prior missed blood 25% |
| 191 | 8344 | m.8344A\>G | A8344G\-F115 | A8344G\-F115\-II10 | Fam | M | Y | Y | A | 30 | 0/not detectable | 75% | / | / | Exercise intolerance, migraine | Table 2 footnote b: blood not detectable; do not enter Pt11 blood 50% for Pt10; family history positive |
| 192 | 8344 | m.8344A\>G | A8344G\-F115 | A8344G\-F115\-II11 | Fam | M | Y | Y | A | 55 | 50% | 78% | / | / | Exercise intolerance, lactic acidosis, respiratory/cardiac involvement, deafness | Patient\-family mapping unavailable |
| 193 | 8344 | m.8344A\>G | A8344G\-F115 | A8344G\-F115\-II12 | Fam | M | Y | Y | A | 58 | 65% | 75% | / | / | Exercise intolerance, lactic acidosis, neuropathy, respiratory/cardiac involvement, deafness | Patient\-family mapping unavailable |
| 194 | 8344 | m.8344A\>G | A8344G\-F115 | A8344G\-F115\-II13 | Fam | F | Y | Y | D | 43 | 60% | 87% | / | / | Ataxic syndrome, depression, myoclonus, seizures, liver failure, pulmonary hypertension, stroke\-like episode | Died of cardiometabolic failure |
| 195 | 8344 | m.8344A\>G | A8344G\-F115 | A8344G\-F115\-II14 | Fam | F | Y | Y | A | 30 | 80% | 85% | / | / | Muscle weakness, myoclonus, seizures | Patient\-family mapping unavailable; myopathic EMG, increased CK, EEG abnormalities |
| 196 | 8344 | m.8344A\>G | A8344G\-F115 | A8344G\-F115\-II15 | Fam | M | Y | Y | A | 8 | 70% | 77% | / | / | Leigh phenotype with psychomotor regression, lactic acidosis, seizures, cognitive impairment | Patient\-family mapping unavailable |
| 197 | 8344 | m.8344A\>G | A8344G\-F116 | A8344G\-F116\-I2 | Uninf | F | ND | Y | A | 79 | 44% | / | / | / | Migraine; pacemaker/cardiomyopathy; hyperthyroidism | Confirmed mutation\-positive subject from Fig. 1/Tables 1\-2\. |
| 198 | 8344 | m.8344A\>G | A8344G\-F116 | A8344G\-F116\-II2 | Fam | F | ND | Y | A | 45 | 62% | / | / | / | Migraine; myalgia; exercise intolerance | Confirmed mutation\-positive subject from Fig. 1/Tables 1\-2\. |
| 199 | 8344 | m.8344A\>G | A8344G\-F117 | A8344G\-F117\-I2 | Uninf | F | ND | Y | A | 60 | 57% | / | / | / | Muscle weakness; hearing impairment; respiratory dysfunction | Confirmed mutation\-positive subject from Fig. 1/Tables 1\-2\. |
| 200 | 8344 | m.8344A\>G | A8344G\-F117 | A8344G\-F117\-II2 | Fam | F | ND | Y | A | 26 | / | / | / | / | Myoclonus; seizures/cachexia/invasive ventilation | Confirmed mutation\-positive subject from Fig. 1/Tables 1\-2\. |
| 201 | 8344 | m.8344A\>G | A8344G\-F117 | A8344G\-F117\-II3 | Fam | M | ND | Y | A | 36 | 49% | / | / | / | Myalgia; depression/alcohol abuse; IBD | Confirmed mutation\-positive subject from Fig. 1/Tables 1\-2\. |
| 202 | 8344 | m.8344A\>G | A8344G\-F117 | A8344G\-F117\-II7 | Fam | F | ND | Y | A | 28 | 82% | / | / | / | Seizures; hearing impairment; cachexia/PEG; amenorrhea; invasive ventilation | Confirmed mutation\-positive subject from Fig. 1/Tables 1\-2\. |
| 203 | 8344 | m.8344A\>G | A8344G\-F117 | A8344G\-F117\-III1 | Fam | M | ND | Y | A | ND | / | / | / | / | Mental retardation; tandem gait not possible | Confirmed mutation\-positive subject from Fig. 1/Tables 1\-2\. |
| 204 | 8344 | m.8344A\>G | A8344G\-F118 | A8344G\-F118\-III2 | Fam | F | ND | Y | A | 59 | 59% | / | / | / | Ataxia; myoclonus; emotional instability; wheelchair; dysarthria | Confirmed mutation\-positive subject from Fig. 1/Tables 1\-2\. |
| 205 | 8344 | m.8344A\>G | A8344G\-F118 | A8344G\-F118\-IV1 | Fam | M | ND | Y | A | 23 | 72% | / | / | / | Myoclonus; seizures; cerebral atrophy; cachexia; ataxic gait | Confirmed mutation\-positive subject from Fig. 1/Tables 1\-2\. |
| 206 | 8344 | m.8344A\>G | A8344G\-F119 | A8344G\-F119\-I2 | Uninf | F | ND | N | A | ND | / | / | / | / | Healthy | Confirmed mutation\-positive subject from Fig. 1/Tables 1\-2\. Removed from Clinical Features: Asymptomatic mutation carrier marked by asterisk |
| 207 | 8344 | m.8344A\>G | A8344G\-F119 | A8344G\-F119\-II1 | Fam | F | ND | Y | A | 39 | 7% | / | / | / | Seizures; ataxia; myoclonus; tachycardia; depression; RRF/COX\-negative fibers | Confirmed mutation\-positive subject from Fig. 1/Tables 1\-2\. |
| 208 | 8344 | m.8344A\>G | A8344G\-F119 | A8344G\-F119\-II2 | Fam | M | ND | Y | A | 9 onset/ND evaluation | / | / | / | / | Seizures; myoclonus; paraspastic lower limbs; cachexia; dysphagia; severe dysarthria | Confirmed mutation\-positive subject from Fig. 1/Tables 1\-2\. |
| 209 | 8344 | m.8344A\>G | A8344G\-F120 | A8344G\-F120\-I4 | Uninf | M | ND | Y | A | ND | / | / | / | / | Ataxic gait; myopathy | Confirmed mutation\-positive subject from Fig. 1/Tables 1\-2\.; Deceased in pedigree. |
| 210 | 8344 | m.8344A\>G | A8344G\-F120 | A8344G\-F120\-II1 | Fam | M | ND | Y | A | ND | / | / | / | / | Seizures | Confirmed mutation\-positive subject from Fig. 1/Tables 1\-2\. |
| 211 | 8344 | m.8344A\>G | A8344G\-F120 | A8344G\-F120\-II3 | Fam | F | ND | Y | A | 56 | 71% (73,70,72\) | / | / | / | Hearing impairment; migraine; chronic tension headache; depression; respiratory dysfunction | Confirmed mutation\-positive subject from Fig. 1/Tables 1\-2\. |
| 212 | 8344 | m.8344A\>G | A8344G\-F120 | A8344G\-F120\-II4 | Fam | M | ND | Y | A | ND | / | / | / | / | Seizures; gait impairment | Confirmed mutation\-positive subject from Fig. 1/Tables 1\-2\. |
| 213 | 8344 | m.8344A\>G | A8344G\-F121 | A8344G\-F121\-II1 | Fam | M | ND | Y | A | 47 | 67% | / | / | / | Seizures; migraine; extrapyramidal tremor; wheelchair; dysarthria | Confirmed mutation\-positive subject from Fig. 1/Tables 1\-2\. |
| 214 | 8344 | m.8344A\>G | A8344G\-F121 | A8344G\-F121\-II2 | Fam | M | ND | Y | A | ND | / | / | / | / | Seizures; ataxia | Confirmed mutation\-positive subject from Fig. 1/Tables 1\-2\. |
| 215 | 8344 | m.8344A\>G | A8344G\-F122 | A8344G\-F122\-II1 | Fam | M | ND | Y | D | 32 | / | / | / | / | Seizures; tremor; ataxic gait | Confirmed mutation\-positive subject from Fig. 1/Tables 1\-2\. |
| 216 | 8344 | m.8344A\>G | A8344G\-F122 | A8344G\-F122\-II2 | Fam | M | ND | Y | A | 47 | 65% (67,63\) | / | / | / | Hearing impairment; migraine; mild depression; EEG slowing | Confirmed mutation\-positive subject from Fig. 1/Tables 1\-2\. |
| 217 | 8344 | m.8344A\>G | A8344G\-F123 | A8344G\-F123\-II2 | Fam | F | ND | Y | A | ND | / | / | / | / | Clinical details not available | Confirmed mutation\-positive subject from Fig. 1/Tables 1\-2\. |
| 218 | 8344 | m.8344A\>G | A8344G\-F123 | A8344G\-F123\-II3 | Fam | M | ND | Y | A | 50 | 64% (63,65\) | / | / | / | Muscle weakness; ophthalmoplegia; fatigue; Trendelenburg gait | Confirmed mutation\-positive subject from Fig. 1/Tables 1\-2\. |
| 219 | 8344 | m.8344A\>G | A8344G\-F123 | A8344G\-F123\-II6 | Fam | F | ND | Y | A | ND | / | / | / | / | Clinical details not available | Confirmed mutation\-positive subject from Fig. 1/Tables 1\-2\. |
| 220 | 8344 | m.8344A\>G | A8344G\-F124 | A8344G\-F124\-II1 | Fam | M | ND | Y | A | 52 | 74% (75,70,79\) | / | / | / | Ataxia; myoclonus; muscle weakness/myalgia; IDDM; walking stick; dysarthria | Confirmed mutation\-positive subject from Fig. 1/Tables 1\-2\. |
| 221 | 8344 | m.8344A\>G | A8344G\-F125 | A8344G\-F125\-II1 | Fam | F | ND | Y | A | 31 | 84% | / | / | / | Myoclonus; muscle weakness; arrhythmia/WPW; hypothyroidism | Confirmed mutation\-positive subject from Fig. 1/Tables 1\-2\. |
| 222 | 8344 | m.8344A\>G | A8344G\-F126 | A8344G\-F126\-I1 | Uninf | F | ND | Y | A | ND | / | / | / | / | Ataxic gait; myopathy | Confirmed mutation\-positive subject from Fig. 1/Tables 1\-2\. |
| 223 | 8344 | m.8344A\>G | A8344G\-F126 | A8344G\-F126\-II2 | Fam | F | ND | Y | A | ND | / | / | / | / | Migraine | Confirmed mutation\-positive subject from Fig. 1/Tables 1\-2\. Removed from Clinical Features: Migraine; clinically affected in pedigree |
| 224 | 8344 | m.8344A\>G | A8344G\-F126 | A8344G\-F126\-III1 | Fam | F | ND | Y | A | 18 | 88% | / | / | / | Tremor; hearing impairment; hypothyroidism; RBBB; photosensitivity | Confirmed mutation\-positive subject from Fig. 1/Tables 1\-2\. |
| 225 | 8344 | m.8344A\>G | A8344G\-F127 | A8344G\-F127\-II2 | Fam | F | ND | Y | A | 64 | / | / | / | / | Fatigue/myalgia; optic atrophy; cerebellar atrophy; ataxic gait | Confirmed mutation\-positive subject from Fig. 1/Tables 1\-2\. |
| 226 | 8344 | m.8344A\>G | A8344G\-F127 | A8344G\-F127\-II5 | Fam | F | ND | Y | D | 40 | / | / | / | / | Seizures; ataxia; myoclonia; myopathy/RRF | Confirmed mutation\-positive subject from Fig. 1/Tables 1\-2\. |
| 227 | 8344 | m.8344A\>G | A8344G\-F127 | A8344G\-F127\-III4 | Fam | M | ND | Y | A | 38 | 56% | / | 63% | / | Migraine; myoclonus; optic atrophy; cerebellar atrophy | Confirmed mutation\-positive subject from Fig. 1/Tables 1\-2\. |
| 228 | 8344 | m.8344A\>G | A8344G\-F127 | A8344G\-F127\-III6 | Fam | M | ND | Y | D | 14 | / | / | / | / | Cognitive impairment; ataxia; myoclonus | Confirmed mutation\-positive subject from Fig. 1/Tables 1\-2\. |
| 229 | 8344 | m.8344A\>G | A8344G\-F128 | A8344G\-F128\-II2 | Fam | F | ND | Y | A | 63 | 75% | 70% | 80% | 100%(BM) | Lipoma; tremor; hearing impairment; leukoencephalopathy | Confirmed mutation\-positive subject from Fig. 1/Tables 1\-2\. |
| 230 | 8344 | m.8344A\>G | A8344G\-F128 | A8344G\-F128\-III2 | Fam | F | ND | Y | A | 40 | 85% | 90% | 80% | 100%(BM) | Myoclonus; ataxia; stroke\-like episode; dementia; white matter hyperintensities | Confirmed mutation\-positive subject from Fig. 1/Tables 1\-2\. |
| 231 | 8344 | m.8344A\>G | A8344G\-F50 | A8344G\-F50\-P1 | Fam | F | Y | Y | A | 51 | 94% | 96% | / | / | Myoclonus; ataxia; seizures; limb weakness; dementia; deafness; ophthalmoplegia | Table 1/Appendix; mother and sister deaf but not investigated. |
| 232 | 8344 | m.8344A\>G | A8344G\-F51 | A8344G\-F51\-III1 | Fam | M | Y | Y | D | 19 | 81% | 99% | / | / | MERRF/Leigh syndrome; myoclonus, ataxia, seizures, limb weakness, neuropathy, dementia | Fig. 2 and Table 1\. |
| 233 | 8344 | m.8344A\>G | A8344G\-F51 | A8344G\-F51\-II2 | Fam | F | N | N | A | 39 | 72% | / | / | / | Healthy | Mother of proband; normal examination. |
| 234 | 8344 | m.8344A\>G | A8344G\-F51 | A8344G\-F51\-II4 | Fam | M | N | N | A | 42 | 49% | / | / | / | Healthy | Maternal uncle; male branch does not transmit to descendants. |
| 235 | 8344 | m.8344A\>G | A8344G\-F52 | A8344G\-F52\-P1 | Fam | F | Y | Y | A | 48 | 59% | / | / | / | Myoclonus; ataxia; seizures; limb weakness; dementia; deafness | Table 1 shows no muscle value; prior/comparison muscle 98% is not supported. |
| 236 | 8344 | m.8344A\>G | A8344G\-F53 | A8344G\-F53\-IV3 | Fam | F | Y | Y | A | 28 | 62% | 98% | / | / | Myoclonus; ataxia; seizures; limb weakness; dementia; deafness | Prior muscle 59% is wrong; Table 1/Fig. 2 support 98%. |
| 237 | 8344 | m.8344A\>G | A8344G\-F53 | A8344G\-F53\-IV4 | Fam | M | N | N | A | 26 | 38% | / | / | / | Healthy | Brother of proband. |
| 238 | 8344 | m.8344A\>G | A8344G\-F53 | A8344G\-F53\-III2 | Fam | F | N | Y | A | 65 | 49% | 59% | / | / | Myoclonus; ataxia; seizures; deafness | Prior muscle 98% is wrong; Table 1 supports 59%. |
| 239 | 8344 | m.8344A\>G | A8344G\-F53 | A8344G\-F53\-III10 | Fam | F | N | N | A | 35 | 50% | / | / | / | Healthy | First cousin once removed; sex from comparison/figure should be retained if final visual check confirms. |
| 240 | 8344 | m.8344A\>G | A8344G\-F53 | A8344G\-F53\-IV12 | Fam | M | N | N | A | 9 | 64% | / | / | / | Healthy | Second cousin; sex from comparison/figure should be retained if final visual check confirms. |
| 241 | 8344 | m.8344A\>G | A8344G\-F54 | A8344G\-F54\-II7 | Fam | F | Y | Y | A | 59 | 70% | 94% | / | / | Myoclonus; ataxia; seizures; neuropathy; optic atrophy; deafness | Symptomatic target\-positive mother. |
| 242 | 8344 | m.8344A\>G | A8344G\-F54 | A8344G\-F54\-II5 | Fam | F | N | N | A | 63 | 30% | / | / | / | Healthy | Unaffected sister. |
| 243 | 8344 | m.8344A\>G | A8344G\-F54 | A8344G\-F54\-III4 | Fam | M | N | Y | A | 38 | 75% | 91% | / | / | Myoclonus; ataxia; dementia; neuropathy; optic atrophy | Affected son of target\-positive mother. |
| 244 | 8344 | m.8344A\>G | A8344G\-F54 | A8344G\-F54\-III6 | Fam | F | N | N | A | 40 | 69% | / | / | / | Healthy | Unaffected daughter of target\-positive mother. |
| 245 | 8344 | m.8344A\>G | A8344G\-F54 | A8344G\-F54\-III7 | Fam | M | N | N | A | 37 | 57% | / | / | / | Healthy | Unaffected son of target\-positive mother. |
| 246 | 8344 | m.8344A\>G | A8344G\-F55 | A8344G\-F55\-II4 | Fam | M | Y | Y | A | 31 | 92% | 97% | / | / | Myoclonus; ataxia; seizures; deafness | Proband. |
| 247 | 8344 | m.8344A\>G | A8344G\-F55 | A8344G\-F55\-I2 | Uninf | F | N | Y | A | 55 | 84% | / | / | / | Myoclonus; ataxia; seizures; neuropathy; dementia; deafness | Mother; no Table 1 muscle value despite prior 93%. |
| 248 | 8344 | m.8344A\>G | A8344G\-F55 | A8344G\-F55\-II1 | Fam | F | N | N | A | 35 | 0 | / | / | / | Healthy | Eligible negative\-tested daughter of target\-positive mother; add as branch stop. |
| 249 | 8344 | m.8344A\>G | A8344G\-F55 | A8344G\-F55\-II5 | Fam | F | N | Y | A | 27 | 94% | / | / | / | Myoclonus; seizures | Affected sister. |
| 250 | 8344 | m.8344A\>G | A8344G\-F56 | A8344G\-F56\-III5 | Fam | M | Y | Y | A | 22 | 87% | 93% | / | / | Myoclonus; ataxia; seizures; limb weakness; optic atrophy; ophthalmoplegia | Table 1 propositus; prior mis\-mapped this person. |
| 251 | 8344 | m.8344A\>G | A8344G\-F56 | A8344G\-F56\-II1 | Fam | M | N | Y | A | 58 | 71% | / | / | / | Ataxia; neuropathy | No Table 1 muscle value; prior muscle 69% belongs to II\-3\. |
| 252 | 8344 | m.8344A\>G | A8344G\-F56 | A8344G\-F56\-II3 | Fam | F | N | Y | A | 59 | 62% | 69% | / | / | Ataxia; limb weakness | Mother; blood/muscle 62/69\. |
| 253 | 8344 | m.8344A\>G | A8344G\-F56 | A8344G\-F56\-III1 | Fam | M | N | Y | D | 25 | / | 92% | / | / | Myoclonus; ataxia; seizures; optic atrophy; stroke\-like episodes | Cousin; muscle only; died age 25\. |
| 254 | 8344 | m.8344A\>G | A8344G\-F33 | A8344G\-F33\-II4 | Fam | F | N | Y | ND | 63 | 83% | 81% | / | / | Myopathy; dementia; neuropathy; hearing loss; lactic acidosis; RRF | Load\-bearing Fig. 1 symbol; exact official ID not printed. |
| 255 | 8344 | m.8344A\>G | A8344G\-F33 | A8344G\-F33\-III1 | Fam | F | N | Y | ND | 41 | 72% | 76% | / | / | Myopathy; neuropathy; hearing loss; lactic acidosis; RRF | Load\-bearing Fig. 1 symbol. |
| 256 | 8344 | m.8344A\>G | A8344G\-F33 | A8344G\-F33\-III2 | Fam | F | N | Y | ND | 36 | 76% | 87% | / | / | Myoclonus; myopathy; seizures; neuropathy; lactic acidosis; RRF | Load\-bearing Fig. 1 symbol. |
| 257 | 8344 | m.8344A\>G | A8344G\-F33 | A8344G\-F33\-III3 | Fam | F | N | N | ND | ND | 55% | / | / | / | Healthy | Load\-bearing Fig. 1 symbol. |
| 258 | 8344 | m.8344A\>G | A8344G\-F33 | A8344G\-F33\-III4 | Fam | M | Y | Y | ND | ND | / | 75% | / | / | MERRF | Arrowhead propositus. |
| 259 | 8344 | m.8344A\>G | A8344G\-F34 | A8344G\-F34\-I1 | Uninf | F | Y | Y | ND | ND | / | 86% | / | / | MERRF | Load\-bearing Fig. 1 symbol. |
| 260 | 8344 | m.8344A\>G | A8344G\-F34 | A8344G\-F34\-II1 | Fam | M | N | Y | ND | ND | / | 96% | / | / | Affected non\-full\-MERRF syndrome | Load\-bearing Fig. 1 symbol. |
| 261 | 8344 | m.8344A\>G | A8344G\-F34 | A8344G\-F34\-II2 | Fam | F | N | Y | ND | 42 | / | 94% | / | / | Myoclonus; myopathy; ataxia; seizures; neuropathy; hearing loss; lactic acidosis | Load\-bearing Fig. 1 symbol. |
| 262 | 8344 | m.8344A\>G | A8344G\-F35 | A8344G\-F35\-I1 | Uninf | F | Y | Y | ND | ND | / | 84% | / | / | MERRF | Load\-bearing Fig. 1 symbol. |
| 263 | 8344 | m.8344A\>G | A8344G\-F36 | A8344G\-F36\-II1 | Fam | M | Y | Y | ND | 44\+ | / | 89% | / | / | Myopathy; neuropathy; lactic acidosis; RRF; PEO | Load\-bearing Fig. 1 symbol. |
| 264 | 8344 | m.8344A\>G | A8344G\-F37 | A8344G\-F37\-II4 | Fam | M | Y | Y | ND | ND | / | 96% | / | / | MERRF | Load\-bearing Fig. 1 symbol. |
| 265 | 8344 | m.8344A\>G | A8344G\-F38 | A8344G\-F38\-III4 | Fam | F | Y | Y | ND | ND | / | 96% | / | / | MERRF | Load\-bearing Fig. 1 symbol; prior note says additional positive relatives lack readable percentages. |
| 266 | 8344 | m.8344A\>G | A8344G\-F39 | A8344G\-F39\-IV1 | Fam | F | Y | Y | ND | ND | / | 84% | / | / | MERRF | Load\-bearing Fig. 1 symbol. |
| 267 | 8344 | m.8344A\>G | A8344G\-F40 | A8344G\-F40\-III2 | Fam | M | Y | Y | ND | ND | / | 97% | / | / | MERRF | Load\-bearing Fig. 1 symbol. |
| 268 | 8344 | m.8344A\>G | A8344G\-F41 | A8344G\-F41\-I1 | Uninf | F | N | Y | ND | 43 | 85% | / | / | / | Myoclonus; optic atrophy | Load\-bearing Fig. 1 symbol. |
| 269 | 8344 | m.8344A\>G | A8344G\-F41 | A8344G\-F41\-II2 | Fam | F | Y | Y | ND | ND | 56% | / | / | / | MERRF | Load\-bearing Fig. 1 symbol. |
| 270 | 8344 | m.8344A\>G | A8344G\-F42 | A8344G\-F42\-III1 | Fam | M | Y | Y | ND | ND | 93% | 100% | / | 100%(Brain) | Severe CNS involvement; neuropathologic Leigh syndrome | Fig. 1 and discussion. |
| 271 | 8344 | m.8344A\>G | A8344G\-F33 | A8344G\-F33\-I1 | Uninf | F | N | N | ND | ND | / | / | / | / | Healthy | Caption\-defined dotted positive symbol; no numeric load printed. Original generated Carrier ID: A8344G\-F33\-Ped1G11dottedfounder |
| 272 | 8344 | m.8344A\>G | A8344G\-F33 | A8344G\-F33\-II3 | Fam | M | N | N | ND | ND | / | / | / | / | Healthy | Caption\-defined dotted positive symbol; generated label from Figure 1\. Original generated Carrier ID: A8344G\-F33\-Ped1G23dottedrelative |
| 273 | 8344 | m.8344A\>G | A8344G\-F33 | A8344G\-F33\-II6 | Fam | F | N | N | ND | ND | / | / | / | / | Healthy | Caption\-defined dotted positive symbol; generated label from Figure 1\. Original generated Carrier ID: A8344G\-F33\-Ped1G26dottedrelative |
| 274 | 8344 | m.8344A\>G | A8344G\-F35 | A8344G\-F35\-II1 | Fam | M | N | Y | ND | ND | / | / | / | / | Affected non\-full\-MERRF syndrome | No numeric load printed; shaded/affected positive symbol under Figure 1 caption. |
| 275 | 8344 | m.8344A\>G | A8344G\-F36 | A8344G\-F36\-II2 | Fam | F | N | N | ND | ND | / | / | / | / | Healthy | No numeric load printed; dotted positive symbol under Figure 1 caption. |
| 276 | 8344 | m.8344A\>G | A8344G\-F37 | A8344G\-F37\-I1 | Uninf | F | N | N | ND | ND | / | / | / | / | Healthy | No numeric load printed; dotted positive symbol. Tiny ambiguous sex\-unknown symbols excluded. |
| 277 | 8344 | m.8344A\>G | A8344G\-F37 | A8344G\-F37\-II5 | Fam | F | N | Y | ND | ND | / | / | / | / | MERRF spectrum | No numeric load printed; black affected positive symbol under Figure 1 caption. |
| 278 | 8344 | m.8344A\>G | A8344G\-F37 | A8344G\-F37\-II6 | Fam | F | N | Y | ND | ND | / | / | / | / | MERRF spectrum | No numeric load printed; black affected positive symbol under Figure 1 caption. |
| 279 | 8344 | m.8344A\>G | A8344G\-F38 | A8344G\-F38\-I1 | Uninf | F | N | N | ND | ND | / | / | / | / | Healthy | No numeric load printed; dotted positive symbol under Figure 1 caption. |
| 280 | 8344 | m.8344A\>G | A8344G\-F38 | A8344G\-F38\-II8 | Fam | F | N | Y | ND | ND | / | / | / | / | Affected non\-full\-MERRF syndrome | No numeric load printed; affected positive symbol under Figure 1 caption. |
| 281 | 8344 | m.8344A\>G | A8344G\-F38 | A8344G\-F38\-III2 | Fam | F | N | N | ND | ND | / | / | / | / | Healthy | No numeric load printed; dotted positive symbol under Figure 1 caption. |
| 282 | 8344 | m.8344A\>G | A8344G\-F39 | A8344G\-F39\-IV3 | Fam | M | N | Y | ND | ND | / | / | / | / | Affected non\-full\-MERRF syndrome | No numeric load printed; black/shaded positive symbol under Figure 1 caption. |
| 283 | 8344 | m.8344A\>G | A8344G\-F42 | A8344G\-F42\-I1 | Uninf | F | N | N | ND | ND | / | / | / | / | Healthy | No numeric load printed; dotted positive symbol under Figure 1 caption. |
| 284 | 8344 | m.8344A\>G | A8344G\-F42 | A8344G\-F42\-II1 | Fam | F | N | N | ND | ND | / | / | / | / | Healthy | No numeric load printed; dotted positive symbol under Figure 1 caption. |
| 285 | 8344 | m.8344A\>G | A8344G\-F9 | A8344G\-F9\-II12 | Fam | ND | N | N | ND | ND | / | positive | / | / | Healthy | Pedigree 1 II\-12; A8344G\-positive asymptomatic/subclinical maternal relative; qualitative heteroplasmic muscle DNA; exact load not reported. |
| 286 | 8344 | m.8344A\>G | A8344G\-F9 | A8344G\-F9\-III4 | Fam | ND | N | N | ND | ND | / | positive | / | / | Healthy | Pedigree 1 III\-4; A8344G\-positive asymptomatic/subclinical maternal relative; qualitative heteroplasmic muscle DNA. |
| 287 | 8344 | m.8344A\>G | A8344G\-F9 | A8344G\-F9\-III11 | Fam | ND | N | Y | ND | ND | / | positive | / | / | Full\-blown/severe MERRF | Pedigree 1 III\-11; qualitative heteroplasmic muscle DNA. |
| 288 | 8344 | m.8344A\>G | A8344G\-F9 | A8344G\-F9\-III13 | Fam | ND | N | N | ND | ND | / | positive | / | / | Healthy | Pedigree 1 III\-13; A8344G\-positive asymptomatic/subclinical maternal relative; qualitative heteroplasmic muscle DNA. |
| 289 | 8344 | m.8344A\>G | A8344G\-F9 | A8344G\-F9\-III17 | Fam | ND | N | N | ND | ND | / | positive | / | / | Healthy | Pedigree 1 III\-17; A8344G\-positive asymptomatic/subclinical maternal relative; qualitative heteroplasmic muscle DNA. |
| 290 | 8344 | m.8344A\>G | A8344G\-F9 | A8344G\-F9\-III19 | Fam | ND | N | Y | ND | ND | / | positive | / | / | Incomplete/moderate MERRF | Pedigree 1 III\-19; qualitative heteroplasmic muscle DNA. |
| 291 | 8344 | m.8344A\>G | A8344G\-F10 | A8344G\-F10\-III2 | Fam | M | Y | Y | ND | ND | / | positive | / | / | Severely affected MERRF patient | Pedigree 2 III\-2; qualitative heteroplasmic muscle DNA. |
| 292 | 8344 | m.8344A\>G | A8344G\-F10 | A8344G\-F10\-III3 | Fam | M | N | N | ND | ND | / | positive | / | / | Healthy | Pedigree 2 III\-3; asymptomatic brother; qualitative heteroplasmic muscle DNA. |
| 293 | 8344 | m.8344A\>G | A8344G\-F11 | A8344G\-F11\-II3 | Fam | ND | Y | Y | ND | ND | / | positive | / | / | Severe MERRF | Pedigree 3 II\-3 propositus; qualitative heteroplasmic muscle DNA. |
| 294 | 8344 | m.8344A\>G | A8344G\-F12 | A8344G\-F12\-I1 | Uninf | F | Y | Y | ND | 37 | / | positive | / | / | Severe MERRF | Pedigree 4 I\-1; confirmed\-positive mother of two apparently normal children. |
| 295 | 8344 | m.8344A\>G | A8344G\-F13 | A8344G\-F13\-II3 | Fam | ND | Y | Y | ND | ND | / | positive | / | / | Severe MERRF | Pedigree 5 II\-3 propositus; qualitative heteroplasmic muscle DNA. |
| 296 | 8344 | m.8344A\>G | A8344G\-F143 | A8344G\-F143\-P1 | Uninf | ND | N | Y | ND | ND | / | / | / | 50\-60%(F) | MERRF syndrome | Intermediate\-load fibroblast line; P1 underwent spontaneous gradual loss of mutant mtDNA during cell culture. Exact subject\-level clinical data not reported in main PDF. |
| 297 | 8344 | m.8344A\>G | A8344G\-F144 | A8344G\-F144\-P2 | Uninf | ND | N | Y | ND | ND | / | / | / | 80\-90%(F); 50\-60%(Cybrid); 80\-90%(Cybrid) | MERRF syndrome | Skin fibroblasts from P2 were used for transmitochondrial cybrids; main PDF reports intermediate/high model categories, not a precise patient tissue value. |
| 298 | 8344 | m.8344A\>G | A8344G\-F145 | A8344G\-F145\-P3 | Uninf | ND | N | Y | ND | ND | / | / | / | 80\-90%(F) | MERRF syndrome | High\-load fibroblast model; exact Fig. S1B value is not present as a separate local supplement in the supplied folder. |
| 299 | 8344 | m.8344A\>G | A8344G\-F58 | A8344G\-F58\-P1 | Fam | F | Y | Y | A | 22 | / | / | / | / | MERRF; fatigue, shock\-like leg sensations, photic jerks, migraine, mild limb ataxia, myoclonic jerks, ragged\-red fibers, high lactate | All five patients had bp8344 mtDNA mutation by mismatch\-primer PCR; this paper reports no numeric heteroplasmy load for family 123\. |
| 300 | 8344 | m.8344A\>G | A8344G\-F1 | A8344G\-F1\-III1 | Fam | F | Y | Y | ND | mid\-teens onset | / | 94% | / | / | MERRF; myoclonus, mitochondrial myopathy, hearing loss, dementia, hypoventilation, mild cardiomyopathy | Figure 1: 6% WT/94% MT; case I proband. |
| 301 | 8344 | m.8344A\>G | A8344G\-F1 | A8344G\-F1\-II1 | Fam | F | N | Y | ND | ND | / | 94% | / | / | EEG/VER abnormalities, hearing loss, mitochondrial myopathy | Figure 1: 6% WT/94% MT; proband's mother. |
| 302 | 8344 | m.8344A\>G | A8344G\-F1 | A8344G\-F1\-I1 | Uninf | F | N | Y | ND | 73 | / | 73% | / | / | Mitochondrial myopathy, hearing loss, moderate neuromuscular disease | Figure 1: 27% WT/73% MT; text age 73\. |
| 303 | 8344 | m.8344A\>G | A8344G\-F1 | A8344G\-F1\-II2 | Fam | F | N | Y | ND | ND | / | 97% | / | / | EEG/VER abnormalities, hearing loss, mitochondrial myopathy | Figure 1: 3% WT/97% MT; maternal aunt. |
| 304 | 8344 | m.8344A\>G | A8344G\-F1 | A8344G\-F1\-II3 | Fam | F | N | Y | ND | ND | / | 96% | / | / | EEG/VER abnormalities, hearing loss, mitochondrial myopathy | Figure 1: 4% WT/96% MT; maternal aunt. |
| 305 | 8344 | m.8344A\>G | A8344G\-F1 | A8344G\-F1\-II4 | Fam | M | N | Y | ND | 50 | / | 90% | / | / | Mild EEG/VER abnormalities and mitochondrial myopathy | Figure 1: 10% WT/90% MT; text age 50; male line not extended for mtDNA G/H descendants. |
| 306 | 8344 | m.8344A\>G | A8344G\-F1 | A8344G\-F1\-III2 | Fam | M | N | Y | ND | ND | / | 96% | / | / | EEG/VER abnormalities and mitochondrial myopathy | Figure 1: 4% WT/96% MT; maternal cousin. |
| 307 | 8344 | m.8344A\>G | A8344G\-F1 | A8344G\-F1\-III3 | Fam | F | N | N | ND | 19 | / | 85% | / | / | Healthy | Figure 1: 15% WT/85% MT; text calls III\-3 the least\-affected maternal relative and says no overt clinical symptoms; mild EEG/VER aberrations with normal muscle histology/OXPHOS/exercise capacity. |
| 308 | 8344 | m.8344A\>G | A8344G\-F1 | A8344G\-F1\-II5 | Fam | F | N | Y | ND | 60 | / | 84% | / | / | Myoclonic epilepsy, mitochondrial myopathy, migraine/facial numbness | Original paper label C; Figure 1: 16% WT/84% MT; mother's cousin; text age 60\. |
| 309 | 8344 | m.8344A\>G | A8344G\-F2 | A8344G\-F2\-P1 | Fam | M | Y | Y | ND | early thirties onset | / | 78% | / | / | Spontaneous myoclonus, mitochondrial myopathy, mild ataxia, status epilepticus, complex I/IV defects | Original paper label B; Figure 1: 22% WT/78% MT; isolated Case II proband. |
| 310 | 8344 | m.8344A\>G | A8344G\-F3 | A8344G\-F3\-P1 | Fam | F | Y | Y | ND | 13 onset | / | 98% | / | / | Mild action myoclonus, mitochondrial myopathy, mild proximal weakness | Original paper label A; Figure 1: 2% WT/98% MT; isolated Case III proband; text says close to homoplasmic. |
| 311 | 8344 | m.8344A\>G | A8344G\-F90 | A8344G\-F90\-I1 | Uninf | F | N | N | A | 65 | 10% | / | / | / | Migraine only | Maternal great\-grandmother; target\-positive in blood. |
| 312 | 8344 | m.8344A\>G | A8344G\-F90 | A8344G\-F90\-II1 | Fam | F | N | N | A | 39 | 20% | / | / | / | Migraine | Maternal grandmother; target\-positive in blood. Emphysema and bronchial asthma also reported. |
| 313 | 8344 | m.8344A\>G | A8344G\-F90 | A8344G\-F90\-III1 | Fam | F | N | N | A | 22 | 40% | / | / | / | Migraine | Mother; target\-positive in blood. Abstract reports migraine headaches; mutation\-testing sentence calls her a healthy 22\-year\-old mother. |
| 314 | 8344 | m.8344A\>G | A8344G\-F90 | A8344G\-F90\-III2 | Fam | M | N | N | A | 15 | 30% | / | / | / | ADHD; learning disability; occasional headache | Maternal uncle; target\-positive in blood. |
| 315 | 8344 | m.8344A\>G | A8344G\-F90 | A8344G\-F90\-III3 | Fam | F | N | N | A | 17 | 40% | / | / | / | Partial epilepsy; migraine | Maternal aunt; target\-positive in blood. |
| 316 | 8344 | m.8344A\>G | A8344G\-F90 | A8344G\-F90\-IV1 | Fam | M | Y | Y | D | 22 mo | 100% | 100% | / | 100%(Liver) | Leigh disease; developmental delay; hypotonia; regression; weakness; sensorineural deafness; cardiomyopathy/WPW; respiratory failure | Died after respiratory arrest; A3243G and T8993G were negative. |
| 317 | 8344 | m.8344A\>G | A8344G\-F90 | A8344G\-F90\-IV2 | Fam | F | N | N | A | 4 | 30% | / | / | / | Migraine only | Sister; target\-positive in blood. |
| 318 | 8344 | m.8344A\>G | A8344G\-F25 | A8344G\-F25\-P3 | Fam | M | ND | Y | A | 64 | / | \~90% | / | / | Progressive external ophthalmoplegia; ptosis; leg weakness; hearing loss; large cervical lipoma; RRF/COX\-deficient fibers; no myoclonus or epilepsy | A8344G\-positive; also A8512G silent polymorphism. Approximate \~90% mutated mtDNA is estimated from autoradiograph; tissue interpreted as muscle because Methods state DNA was from muscle except patient 4 fibroblasts. |
| 319 | 8344 | m.8344A\>G | A8344G\-F26 | A8344G\-F26\-P5 | Fam | M | ND | Y | A | 13 | / | / | / | / | Congenital hypotonia; delayed motor development; weakness; myoclonus; generalized seizures; ophthalmoparesis; abundant RRF | A8344G detected by SSCP/direct sequencing; exact heteroplasmy load not reported. Mother and sister are not carrier rows. |
| 320 | 8344 | m.8344A\>G | A8344G\-F27 | A8344G\-F27\-I1 | Uninf | F | ND | Y | A | 65 | / | / | / | / | Generalized myoclonus; progressive weakness; cerebellar tremor and ataxia; burning pain in soles; scattered RRF; no seizures or dementia | Mother of patients 7 and 8; A8344G detected, but exact heteroplasmy load not reported. |
| 321 | 8344 | m.8344A\>G | A8344G\-F27 | A8344G\-F27\-II1 | Fam | F | ND | Y | A | ND | / | / | / | / | Seizures since age 20; mild generalized myoclonus and weakness; mild hearing loss; abnormal EEG; muscle biopsy normal | Daughter of patient 6\. A8344G detected; exact heteroplasmy load not reported. Age at evaluation not reported, so onset age remains in Clinical Features only. |
| 322 | 8344 | m.8344A\>G | A8344G\-F27 | A8344G\-F27\-II2 | Fam | M | ND | Y | A | ND | / | / | / | / | Generalized seizures since age 27; generalized myoclonus; cerebellar ataxia; wheelchair by age 35; bilateral hearing loss; dysarthria; abnormal EEG | Son of patient 6\. A8344G detected; exact heteroplasmy load not reported. Age at evaluation not reported. |
| 323 | 8344 | m.8344A\>G | A8344G\-F14 | A8344G\-F14\-P1 | Uninf | M | Y | Y | ND | 60 | / | positive; load not reported | / | / | MERRF; limb myoclonus from twenties; tonic\-clonic seizures; progressive facial, neck, and limb weakness and wasting; ragged\-red fibers; respiratory failure. | Original label SVR84\-3; skeletal muscle mtDNA sequencing identified A8344G; heteroplasmy percentage not determined. |
| 324 | 8344 | m.8344A\>G | A8344G\-F15 | A8344G\-F15\-P1 | Uninf | M | Y | Y | ND | 48 | / | positive; load not reported | / | / | MERRF; tonic\-clonic seizures; increasing limb ataxia; dysmetria; intention tremor; distal limb weakness and wasting; ragged\-red fibers. | Original label SVR88\-3; skeletal muscle mtDNA sequencing identified A8344G; mutation present in all three independent clones but no heteroplasmy percentage was determined. |
| 325 | 8344 | m.8344A\>G | A8344G\-F16 | A8344G\-F16\-P1 | Fam | F | Y | Y | ND | 19 onset | / | positive; load not reported | / | / | MERRF; generalized myoclonic epilepsy from age 19; progressive limb ataxia; nerve deafness; slurred speech; ragged\-red fibers; later stroke\-like episodes. | Original label SVR87\-2; one of identical twins both affected by a similar disorder; skeletal muscle mtDNA sequencing identified A8344G; current evaluation age not stated. |
| 326 | 8344 | m.8344A\>G | A8344G\-F85 | A8344G\-F85\-II1 | Fam | F | Y | Y | A | 55 | / | 83% | / | / | Progressive proximal limb weakness; multiple symmetric lipomatosis of neck and shoulders; RRF; lipid vacuoles; complexes I, III, and IV deficiency. | Index case; Figure 1 muscle load 83%. |
| 327 | 8344 | m.8344A\>G | A8344G\-F85 | A8344G\-F85\-II2 | Fam | F | N | Y | A | 52 | / | 90% | / | / | Episodic fatigability; neck lipomas; mild deltoid weakness; RRF; lipid storage; COX\-deficient fibers. | Figure 1 muscle load 90%. |
| 328 | 8344 | m.8344A\>G | A8344G\-F85 | A8344G\-F85\-II3 | Fam | M | N | Y | A | 50 | / | 70% | / | / | Diffuse cramps and fatigue; neck and shoulder lipomas; mild proximal weakness; RRF; increased lipid; complex I deficiency. | Figure 1 muscle load 70%. |
| 329 | 8344 | m.8344A\>G | A8344G\-F85 | A8344G\-F85\-II4 | Fam | F | N | N | A | 43 | 67% | / | / | / | Healthy | Figure 1 blood load 67%. |
| 330 | 8344 | m.8344A\>G | A8344G\-F85 | A8344G\-F85\-III1 | Fam | M | N | N | A | ND | / | / | / | / | Healthy | No molecular testing in child; included because mother AII\-1 has confirmed mutation load and child phenotype is explicitly reported. |
| 331 | 8344 | m.8344A\>G | A8344G\-F85 | A8344G\-F85\-III2 | Fam | F | N | N | A | ND | 68% | / | / | / | Healthy | Figure 1 blood load 68%. |
| 332 | 8344 | m.8344A\>G | A8344G\-F85 | A8344G\-F85\-III3 | Fam | F | N | N | A | ND | 70% | / | / | / | Healthy | Figure 1 blood load 70%. |
| 333 | 8344 | m.8344A\>G | A8344G\-F85 | A8344G\-F85\-III4 | Fam | M | N | N | A | ND | / | / | / | / | Healthy | No molecular testing in child; included because mother AII\-1 has confirmed mutation load and child phenotype is explicitly reported. |
| 334 | 8344 | m.8344A\>G | A8344G\-F85 | A8344G\-F85\-III5 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | No molecular testing in child; included because mother AII\-2 has confirmed mutation load and child phenotype is explicitly reported. |
| 335 | 8344 | m.8344A\>G | A8344G\-F85 | A8344G\-F85\-III6 | Fam | M | N | N | A | ND | 90% | / | / | / | Healthy | Figure 1 blood load 90%. |
| 336 | 8344 | m.8344A\>G | A8344G\-F85 | A8344G\-F85\-III10 | Fam | M | N | N | A | ND | 73% | / | / | / | Healthy | Figure 1 blood load 73%. |
| 337 | 8344 | m.8344A\>G | A8344G\-F85 | A8344G\-F85\-III11 | Fam | M | N | N | A | ND | 68% | / | / | / | Healthy | Figure 1 blood load 68%. |
| 338 | 8344 | m.8344A\>G | A8344G\-F86 | A8344G\-F86\-II1 | Fam | F | Y | Y | A | 56 | / | 81% | / | / | Progressive limb\-girdle weakness; multiple lipomas of neck/back/suprascapular region; RRF; lipid vacuoles; COX\-deficient fibers; complex III deficiency. | Index case; Figure 1 muscle load 81%. |
| 339 | 8344 | m.8344A\>G | A8344G\-F86 | A8344G\-F86\-III1 | Fam | F | N | N | A | ND | 40% | / | / | / | Healthy | Figure 1 blood load 40%. |
| 340 | 8344 | m.8344A\>G | A8344G\-F86 | A8344G\-F86\-III2 | Fam | M | N | N | A | ND | 42% | / | / | / | Increased CK; scattered COX\-deficient fibers. | Figure 1 blood load 42%. |
| 341 | 8344 | m.8344A\>G | A8344G\-F66 | A8344G\-F66\-II1 | Fam | F | ND | Y | A | 73 | / | / | / | 38%(Platelets) | Late\-childhood mild ataxia; pes cavus; pyramidal tract findings; painful distal sensory loss; tachycardia; multiple cutaneous lipomas. | Fibroblasts ND; platelet clone fraction 9/24 (38%). |
| 342 | 8344 | m.8344A\>G | A8344G\-F66 | A8344G\-F66\-III2 | Fam | M | ND | Y | A | 45 | / | / | / | 63%(F); 75%(Platelets) | Cutaneous lipomas; visual acuity loss; muscle cramps; occasional myoclonic jerks; lifelong tandem gait difficulty | Fibroblast clone fraction 14/24 (63%); platelet clone fraction 18/24 (75%). Mildly affected at present. |
| 343 | 8344 | m.8344A\>G | A8344G\-F66 | A8344G\-F66\-III3 | Fam | F | ND | Y | A | 45 | / | / | / | 74%(F); 91%(Platelets) | Childhood\-onset progressive ataxia; assisted ambulation; wide\-based gait; dystonic posture; areflexia; Babinski signs; pes cavus; distal sensory loss; dysarthria; hearing impairment; cardiomyopathy; optic atrophy. | Fibroblast clone fraction 17/23 (74%); platelet clone fraction 21/23 (91%). |
| 344 | 8344 | m.8344A\>G | A8344G\-F66 | A8344G\-F66\-IV3 | Fam | M | N | Y | D | 10 months | / | / | / | / | Leigh disease; lactic acidosis; cardiomyopathy; respiratory failure from primary central hypoventilation; optic atrophy; myoclonic seizures; skeletal myopathy. | No molecular testing in child; included because mother III\-3 has confirmed mutation load and child phenotype is explicitly reported. |
| 345 | 8344 | m.8344A\>G | A8344G\-F66 | A8344G\-F66\-IV4 | Fam | M | N | Y | D | 4 | / | / | / | / | Leigh disease at autopsy; seizures; lactic acidosis; skeletal and hypertrophic cardiomyopathy; chronic respiratory failure from primary central hypoventilation. | No molecular testing in child; included because mother III\-3 has confirmed mutation load and child phenotype is explicitly reported. |
| 346 | 8344 | m.8344A\>G | A8344G\-F146 | A8344G\-F146\-P1 | Uninf | ND | ND | Y | ND | ND | / | / | / | / | Multiple symmetric lipomatosis; no myoclonus epilepsy | Tissue/source and heteroplasmy percentage not reported; do not infer blood or muscle positivity from the paper's later testing recommendation. |
| 347 | 8344 | m.8344A\>G | A8344G\-F5 | A8344G\-F5\-P1 | Uninf | M | Y | Y | ND | 48 | / | positive | / | / | Ptosis and myopathy | Fig. 4 lane 6; A8344G qualitative muscle\-positive sample. |
| 348 | 8344 | m.8344A\>G | A8344G\-F6 | A8344G\-F6\-P1 | Uninf | F | Y | Y | ND | 40 | / | positive | / | / | MERRF | Fig. 4 lane 7; no family relationship reported. |
| 349 | 8344 | m.8344A\>G | A8344G\-F7 | A8344G\-F7\-P1 | Uninf | M | Y | Y | ND | 15 | / | positive | / | / | MERRF | Fig. 4 lane 8; no family relationship reported. |
| 350 | 8344 | m.8344A\>G | A8344G\-F8 | A8344G\-F8\-P1 | Uninf | F | Y | Y | ND | 11 | / | positive | / | / | MERRF | Fig. 4 lane 9; no family relationship reported. |
| 351 | 8344 | m.8344A\>G | A8344G\-F47 | A8344G\-F47\-III2 | Fam | M | N | Y | D | 28 | / | / | / | / | Progressive myopathy with proximal weakness, strabismus/exotropia, facial weakness, dysphagia and waddling gait | Patient 4 (III\-2 son of Patient 5\); no frozen tissue for mtDNA analysis; fixed muscle biopsy had ragged\-red fibers/mitochondrial inclusions; died age 29\. |
| 352 | 8344 | m.8344A\>G | A8344G\-F99 | A8344G\-F99\-II1 | Fam | F | N | Y | ND | ND | / | / | / | / | MERRF | Older sister of Patient 3; previously diagnosed with MERRF with mitochondrial A8344G. Age and mutation load not reported. |
| 353 | 8344 | m.8344A\>G | A8344G\-F101 | A8344G\-F101\-II3 | Fam | F | N | N | A | ND | 0 | / | / | / | Healthy | Healthy daughter of Patient 1; blood\-negative for A8344G. Negative result is blood only; other tissues not tested. |

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