G13513A

# **General Information**

| **Position** | **13513** | **Variant** | **m.13513G\>A** | **Locus** | **MT\-ND5** | **Amino\-AcidChange** | **D393N** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | 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.13513G\>A** variant in MT\-ND5 has been reported in 85 pedigrees. To date, 112 carriers have been reported. Reported mutation loads ranged from 0% to 100%, with a median of 35% overall; affected carriers showed mutation loads from 0% to 100%, with a median of 42%; unaffected carriers showed mutation loads from 0% to 98%, with a median of 4%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (51%), kidney (34%), heart (53%), liver (25%), cerebellum (57%), and cerebrum frontal lobe (54%) than in blood (10%). In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (64%), brain (31%), optic nerve (32%), heart (24%), liver (25%), and kidney (28%) than in blood (10%). Similar tissue\-specific differences were observed in 20 additional carriers. The main clinical manifestations among affected carriers included leigh syndrome, ataxia, hypotonia, ptosis, seizures, MELAS, optic atrophy, stroke\-like episodes, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 13513 | m.13513G\>A | [G13513A\-F1](https://mitofam.com/doc/1352/) | United States | MELAS | 1 | 0 | 1997 | [9299505](https://pubmed.ncbi.nlm.nih.gov/9299505/) |  |
| 2 | 13513 | m.13513G\>A | G13513A\-F2 | United Kingdom | LHON/MELAS overlap or MELAS | 0 | 0 | 1999 | [10589546](https://pubmed.ncbi.nlm.nih.gov/10589546/) |  |
| 3 | 13513 | m.13513G\>A | G13513A\-F3 | United Kingdom | LHON/MELAS overlap or MELAS | 0 | 0 | 1999 | [10589546](https://pubmed.ncbi.nlm.nih.gov/10589546/) |  |
| 4 | 13513 | m.13513G\>A | G13513A\-F4 | United Kingdom | LHON/MELAS overlap or MELAS | 0 | 0 | 1999 | [10589546](https://pubmed.ncbi.nlm.nih.gov/10589546/) |  |
| 5 | 13513 | m.13513G\>A | G13513A\-F5 | United Kingdom | LHON/MELAS overlap or MELAS | 0 | 0 | 1999 | [10589546](https://pubmed.ncbi.nlm.nih.gov/10589546/) |  |
| 6 | 13513 | m.13513G\>A | [G13513A\-F6](https://mitofam.com/doc/1353/) | France | MELAS | 0 | 1 | 2000 | [10908920](https://pubmed.ncbi.nlm.nih.gov/10908920/) |  |
| 7 | 13513 | m.13513G\>A | G13513A\-F7 | Italy | MELAS | 0 | 0 | 2001 | [11198278](https://pubmed.ncbi.nlm.nih.gov/11198278/) |  |
| 8 | 13513 | m.13513G\>A | [G13513A\-F8](https://mitofam.com/doc/1354/) | France | Leigh\-like syndrome | 3 | 1 | 2003 | [12624137](https://pubmed.ncbi.nlm.nih.gov/12624137/) |  |
| 9 | 13513 | m.13513G\>A | [G13513A\-F9](https://mitofam.com/doc/1355/) | France | Leigh\-like syndrome | 1 | 0 | 2003 | [12624137](https://pubmed.ncbi.nlm.nih.gov/12624137/) |  |
| 10 | 13513 | m.13513G\>A | [G13513A\-F10](https://mitofam.com/doc/1356/) | France | Leigh\-like syndrome | 2 | 0 | 2003 | [12624137](https://pubmed.ncbi.nlm.nih.gov/12624137/) |  |
| 11 | 13513 | m.13513G\>A | [G13513A\-F11](https://mitofam.com/doc/1357/) | Australia | Leigh disease | 1 | 0 | 2003 | [14520659](https://pubmed.ncbi.nlm.nih.gov/14520659/) | Patient 1 |
| 12 | 13513 | m.13513G\>A | G13513A\-F12 | Australia | Leigh disease | 0 | 0 | 2003 | [14520659](https://pubmed.ncbi.nlm.nih.gov/14520659/) | Patient 2 |
| 13 | 13513 | m.13513G\>A |[ G13513A\-F13 ](https://mitofam.com/doc/1358/)| Australia | Adult Leigh disease | 1 | 0 | 2003 | [14520659](https://pubmed.ncbi.nlm.nih.gov/14520659/) | Patient 3 |
| 14 | 13513 | m.13513G\>A | G13513A\-F14 | Japan | Leigh syndrome | 0 | 0 | 2004 | [14730434](https://pubmed.ncbi.nlm.nih.gov/14730434/) | Patient 1 |
| 15 | 13513 | m.13513G\>A | G13513A\-F15 | Japan | Leigh syndrome | 0 | 0 | 2004 | [14730434](https://pubmed.ncbi.nlm.nih.gov/14730434/) | Patient 2 |
| 16 | 13513 | m.13513G\>A | G13513A\-F16 | Japan | Leigh syndrome | 0 | 0 | 2004 | [14730434](https://pubmed.ncbi.nlm.nih.gov/14730434/) | Patient 3 |
| 17 | 13513 | m.13513G\>A | G13513A\-F17 | Japan | Leigh syndrome | 0 | 0 | 2004 | [14730434](https://pubmed.ncbi.nlm.nih.gov/14730434/) | Patient 4 |
| 18 | 13513 | m.13513G\>A | G13513A\-F18 | Japan | Leigh syndrome | 0 | 0 | 2004 | [14730434](https://pubmed.ncbi.nlm.nih.gov/14730434/) | Patient 5 |
| 19 | 13513 | m.13513G\>A | G13513A\-F19 | Japan | Leigh syndrome | 0 | 0 | 2004 | [14730434](https://pubmed.ncbi.nlm.nih.gov/14730434/) | Patient 6 |
| 20 | 13513 | m.13513G\>A | G13513A\-F20 | Italy | Leigh syndrome / complex I deficiency | 0 | 0 | 2004 | [15576045](https://pubmed.ncbi.nlm.nih.gov/15576045/) | Patient 4 |
| 21 | 13513 | m.13513G\>A | G13513A\-F21 | Netherlands | MELAS/CPEO overlap | 0 | 0 | 2007 | [17400793](https://pubmed.ncbi.nlm.nih.gov/17400793/) | Family 3; Family 3 description.; Netherlands; Maastricht/Erasmus mitochondrial diagnostic cohort. |
| 22 | 13513 | m.13513G\>A | G13513A\-F22 | Netherlands | MELAS/Leigh phenotype | 0 | 0 | 2007 | [17400793](https://pubmed.ncbi.nlm.nih.gov/17400793/) | Family 4; Family 4 description.; Netherlands; Maastricht/Erasmus mitochondrial diagnostic cohort. |
| 23 | 13513 | m.13513G\>A | G13513A\-F23 | USA | MELAS | 0 | 0 | 2008 | [18332249](https://pubmed.ncbi.nlm.nih.gov/18332249/) | Original present\-study G13513A case.; Patient 1; Table 1 and family\-testing text.; USA inferred from Columbia/CHOP clinical series and author institutions. |
| 24 | 13513 | m.13513G\>A | G13513A\-F24 | USA | MELAS | 0 | 0 | 2008 | [18332249](https://pubmed.ncbi.nlm.nih.gov/18332249/) | Original present\-study G13513A case.; Patient 2; Table 1 and family\-testing text.; USA inferred from Columbia/CHOP clinical series and author institutions. |
| 25 | 13513 | m.13513G\>A | G13513A\-F25 | USA | MELAS | 0 | 0 | 2008 | [18332249](https://pubmed.ncbi.nlm.nih.gov/18332249/) | Original present\-study G13513A case.; Patient 3; Table 1 and family\-testing text.; USA inferred from Columbia/CHOP clinical series and author institutions. |
| 26 | 13513 | m.13513G\>A | G13513A\-F26 | USA | Leigh syndrome | 0 | 0 | 2008 | [18332249](https://pubmed.ncbi.nlm.nih.gov/18332249/) | Original present\-study G13513A case.; Patient 4; Table 1 and family\-testing text.; USA inferred from Columbia/CHOP clinical series and author institutions. |
| 27 | 13513 | m.13513G\>A | G13513A\-F27 | USA | Leigh syndrome | 0 | 0 | 2008 | [18332249](https://pubmed.ncbi.nlm.nih.gov/18332249/) | Original present\-study G13513A case.; Patient 5; Table 1 and family\-testing text.; USA inferred from Columbia/CHOP clinical series and author institutions. |
| 28 | 13513 | m.13513G\>A | G13513A\-F28 | USA | Leigh syndrome | 0 | 0 | 2008 | [18332249](https://pubmed.ncbi.nlm.nih.gov/18332249/) | Original present\-study G13513A case.; Patient 6; Table 1 and family\-testing text.; USA inferred from Columbia/CHOP clinical series and author institutions. |
| 29 | 13513 | m.13513G\>A | G13513A\-F29 | USA | Leigh syndrome | 0 | 0 | 2008 | [18332249](https://pubmed.ncbi.nlm.nih.gov/18332249/) | Original present\-study G13513A case.; Patient 7; Table 1 and family\-testing text.; USA inferred from Columbia/CHOP clinical series and author institutions. |
| 30 | 13513 | m.13513G\>A | G13513A\-F30 | USA | Leigh syndrome | 0 | 0 | 2008 | [18332249](https://pubmed.ncbi.nlm.nih.gov/18332249/) | Original present\-study G13513A case. Mother, maternal aunt, maternal grandmother blood/urine negative; placenta in second pregnancy negative.; Patient 8; Table 1 and family\-testing text.; USA inferred from Columbia/CHOP clinical series and author institutions. |
| 31 | 13513 | m.13513G\>A | G13513A\-F31 | USA | Leigh syndrome | 0 | 0 | 2008 | [18332249](https://pubmed.ncbi.nlm.nih.gov/18332249/) | Original present\-study G13513A case.; Patient 9; Table 1 and family\-testing text.; USA inferred from Columbia/CHOP clinical series and author institutions. |
| 32 | 13513 | m.13513G\>A | G13513A\-F32 | USA | Leigh syndrome | 0 | 0 | 2008 | [18332249](https://pubmed.ncbi.nlm.nih.gov/18332249/) | Original present\-study G13513A case.; Patient 10; Table 1 and family\-testing text.; USA inferred from Columbia/CHOP clinical series and author institutions. |
| 33 | 13513 | m.13513G\>A | G13513A\-F33 | USA | Leigh syndrome | 0 | 0 | 2008 | [18332249](https://pubmed.ncbi.nlm.nih.gov/18332249/) | Original present\-study G13513A case.; Patient 11; Table 1 and family\-testing text.; USA inferred from Columbia/CHOP clinical series and author institutions. |
| 34 | 13513 | m.13513G\>A | G13513A\-F34 | USA | Leigh syndrome | 0 | 0 | 2008 | [18332249](https://pubmed.ncbi.nlm.nih.gov/18332249/) | Original present\-study G13513A case.; Patient 12; Table 1 and family\-testing text.; USA inferred from Columbia/CHOP clinical series and author institutions. |
| 35 | 13513 | m.13513G\>A | G13513A\-F35 | USA inferred | Leigh disease phenotype | 0 | 0 | 2008 | [18495510](https://pubmed.ncbi.nlm.nih.gov/18495510/) | Fig.1 visually confirmed: P1 M42%; P1 mother B0%; P2 B29% and F16%; P2 mother B0%; P3 M42%/B32%; P4 B23%; P5 B40%; P6 F38%.; Baylor m.13513G\>A Leigh disease series; pages 1\-5; rendered page 3 Fig.1; USA inferred from Baylor/Texas study context and affiliations.; Split merged unrelated cohort carriers into singleton families after PDF review. |
| 36 | 13513 | m.13513G\>A | G13513A\-F36 | USA inferred | Leigh disease phenotype | 0 | 0 | 2008 | [18495510](https://pubmed.ncbi.nlm.nih.gov/18495510/) | Fig.1 visually confirmed: P1 M42%; P1 mother B0%; P2 B29% and F16%; P2 mother B0%; P3 M42%/B32%; P4 B23%; P5 B40%; P6 F38%.; Baylor m.13513G\>A Leigh disease series; pages 1\-5; rendered page 3 Fig.1; USA inferred from Baylor/Texas study context and affiliations.; Split merged unrelated cohort carriers into singleton families after PDF review. |
| 37 | 13513 | m.13513G\>A | G13513A\-F37 | USA inferred | Leigh disease phenotype | 0 | 0 | 2008 | [18495510](https://pubmed.ncbi.nlm.nih.gov/18495510/) | Fig.1 visually confirmed: P1 M42%; P1 mother B0%; P2 B29% and F16%; P2 mother B0%; P3 M42%/B32%; P4 B23%; P5 B40%; P6 F38%.; Baylor m.13513G\>A Leigh disease series; pages 1\-5; rendered page 3 Fig.1; USA inferred from Baylor/Texas study context and affiliations.; Split merged unrelated cohort carriers into singleton families after PDF review. |
| 38 | 13513 | m.13513G\>A | G13513A\-F38 | USA inferred | Leigh disease phenotype | 0 | 0 | 2008 | [18495510](https://pubmed.ncbi.nlm.nih.gov/18495510/) | Fig.1 visually confirmed: P1 M42%; P1 mother B0%; P2 B29% and F16%; P2 mother B0%; P3 M42%/B32%; P4 B23%; P5 B40%; P6 F38%.; Baylor m.13513G\>A Leigh disease series; pages 1\-5; rendered page 3 Fig.1; USA inferred from Baylor/Texas study context and affiliations.; Split merged unrelated cohort carriers into singleton families after PDF review. |
| 39 | 13513 | m.13513G\>A | G13513A\-F39 | USA inferred | Leigh disease phenotype | 0 | 0 | 2008 | [18495510](https://pubmed.ncbi.nlm.nih.gov/18495510/) | Fig.1 visually confirmed: P1 M42%; P1 mother B0%; P2 B29% and F16%; P2 mother B0%; P3 M42%/B32%; P4 B23%; P5 B40%; P6 F38%.; Baylor m.13513G\>A Leigh disease series; pages 1\-5; rendered page 3 Fig.1; USA inferred from Baylor/Texas study context and affiliations.; Split merged unrelated cohort carriers into singleton families after PDF review. |
| 40 | 13513 | m.13513G\>A | G13513A\-F40 | USA inferred | Leigh disease phenotype | 0 | 0 | 2008 | [18495510](https://pubmed.ncbi.nlm.nih.gov/18495510/) | Fig.1 visually confirmed: P1 M42%; P1 mother B0%; P2 B29% and F16%; P2 mother B0%; P3 M42%/B32%; P4 B23%; P5 B40%; P6 F38%.; Baylor m.13513G\>A Leigh disease series; pages 1\-5; rendered page 3 Fig.1; USA inferred from Baylor/Texas study context and affiliations.; Split merged unrelated cohort carriers into singleton families after PDF review. |
| 41 | 13513 | m.13513G\>A | G13513A\-F41 | Taiwan | Leigh syndrome with Wolff\-Parkinson\-White syndrome and cardiomyopathy | 0 | 0 | 2008 | [19054921](https://pubmed.ncbi.nlm.nih.gov/19054921/) | Family carrier testing not reported in extracted text.; Single Taiwanese case; Case report clinical/molecular sections.; Taiwan case report |
| 42 | 13513 | m.13513G\>A | G13513A\-F42 | USA | MELAS/Leigh | 0 | 0 | 2009 | [19370763](https://pubmed.ncbi.nlm.nih.gov/19370763/) | Only m.13513G\>A has patient\-specimen evidence; other target variants in this PMID are healthy donor sequence variants.; Patient specimen; Table 1 and Table 2\.; USA; Salt Lake City/ARUP patient\-specimen assay validation context. |
| 43 | 13513 | m.13513G\>A | G13513A\-F43 | Korea | Atypical Leigh syndrome / childhood mitochondrial encephalopathy | 0 | 0 | 2009 | [19617458](https://pubmed.ncbi.nlm.nih.gov/19617458/) | No consanguinity or family history reported.; Case 2; Case 2 clinical description and Fig.2 heteroplasmy assay.; Korea; Korean pediatric mitochondrial cohort |
| 44 | 13513 | m.13513G\>A | G13513A\-F44 | China | MELAS/Leigh overlap | 0 | 0 | 2010 | [20408961](https://pubmed.ncbi.nlm.nih.gov/20408961/) | family history reported No for all three patients.; three unrelated Chinese patients; Table 1 and molecular results; three young Chinese patients stated; Split merged unrelated cohort carriers into singleton families after PDF review. |
| 45 | 13513 | m.13513G\>A | G13513A\-F45 | China | MELAS/Leigh overlap | 0 | 0 | 2010 | [20408961](https://pubmed.ncbi.nlm.nih.gov/20408961/) | family history reported No for all three patients.; three unrelated Chinese patients; Table 1 and molecular results; three young Chinese patients stated; Split merged unrelated cohort carriers into singleton families after PDF review. |
| 46 | 13513 | m.13513G\>A | G13513A\-F46 | China | MELAS/Leigh overlap | 0 | 0 | 2010 | [20408961](https://pubmed.ncbi.nlm.nih.gov/20408961/) | family history reported No for all three patients.; three unrelated Chinese patients; Table 1 and molecular results; three young Chinese patients stated; Split merged unrelated cohort carriers into singleton families after PDF review. |
| 47 | 13513 | m.13513G\>A | G13513A\-F47 | Taiwan | LHON/MELAS overlap | 0 | 0 | 2011 | [21174521](https://pubmed.ncbi.nlm.nih.gov/21174521/) | parents and siblings were negative in blood, so coded De novo for carrier row.; Taiwan LHON/MELAS case; pages 1\-3; Taiwan case report |
| 48 | 13513 | m.13513G\>A | [G13513A\-F48](https://mitofam.com/doc/1359/) | Australia inferred | Leigh syndrome | 1 | 0 | 2011 | [21364701](https://pubmed.ncbi.nlm.nih.gov/21364701/) | m.13513G\>A family 1; Table 1; Australia; Melbourne pediatric/diagnostic cohort inferred from affiliations and cohort source. |
| 49 | 13513 | m.13513G\>A | G13513A\-F49 | Australia inferred | Leigh syndrome | 0 | 0 | 2011 | [21364701](https://pubmed.ncbi.nlm.nih.gov/21364701/) | m.13513G\>A proband 2; Table 1; Australia; Melbourne pediatric/diagnostic cohort inferred from affiliations and cohort source. |
| 50 | 13513 | m.13513G\>A | G13513A\-F50 | Australia inferred | Leigh syndrome | 0 | 0 | 2011 | [21364701](https://pubmed.ncbi.nlm.nih.gov/21364701/) | m.13513G\>A proband 3; Table 1; Australia; Melbourne pediatric/diagnostic cohort inferred from affiliations and cohort source. |
| 51 | 13513 | m.13513G\>A | [G13513A\-F51](https://mitofam.com/doc/1360/) | Australia inferred | Leigh syndrome | 1 | 0 | 2011 | [21364701](https://pubmed.ncbi.nlm.nih.gov/21364701/) | m.13513G\>A family 4; Table 1; Australia; Melbourne pediatric/diagnostic cohort inferred from affiliations and cohort source. |
| 52 | 13513 | m.13513G\>A | G13513A\-F52 | China | MELAS | 0 | 0 | 2011 | [21850008](https://pubmed.ncbi.nlm.nih.gov/21850008/) | Target variant original patient; tissue percentage not extracted from main text.; Patient 4; Cohort patient table/case summary.; China; Chinese MELAS cohort |
| 53 | 13513 | m.13513G\>A | G13513A\-F53 | Italy | Leigh syndrome | 0 | 0 | 2012 | [23010433](https://pubmed.ncbi.nlm.nih.gov/23010433/) | Trial table entries; no family or heteroplasmy details.; EPI\-743 trial subjects; Table 1 genetic diagnosis list.; Italy; clinical trial cohort includes Italian Leigh syndrome subjects |
| 54 | 13513 | m.13513G\>A | G13513A\-F54 | France | mitochondrial disorder / Leigh or stroke\-like spectrum | 0 | 0 | 2013 | [23847141](https://pubmed.ncbi.nlm.nih.gov/23847141/) | French cohort m.13513G\>A; Table 1; France; French Mitochondrial Disease Network cohort. |
| 55 | 13513 | m.13513G\>A |[ G13513A\-F55](https://mitofam.com/doc/1361/) | United Kingdom | Mitochondrial disease family / prenatal testing | 1 | 0 | 2014 | [24642831](https://pubmed.ncbi.nlm.nih.gov/24642831/) | Prenatal patient 11 family; Table 1 row 11\.; United Kingdom; national NHS mitochondrial prenatal testing service.; PMID 24642831 mother phenotype not explicit; G/H highlighted. |
| 56 | 13513 | m.13513G\>A | G13513A\-F56 | Belgium | Mitochondrial disease diagnostic sample | 0 | 0 | 2014 | [24667782](https://pubmed.ncbi.nlm.nih.gov/24667782/) | Method/diagnostic validation paper with limited phenotype.; Diagnostic sample 24; Diagnostic sample table.; Belgium diagnostic sequencing study |
| 57 | 13513 | m.13513G\>A | G13513A\-F57 | Netherlands inferred | mtDNA disease | 0 | 0 | 2017 | [27450679](https://pubmed.ncbi.nlm.nih.gov/27450679/) | Family 13; Table 1; Netherlands inferred from Maastricht diagnostic laboratory/cohort. |
| 58 | 13513 | m.13513G\>A | G13513A\-F58 | Netherlands inferred | mtDNA disease | 0 | 0 | 2017 | [27450679](https://pubmed.ncbi.nlm.nih.gov/27450679/) | Family 14; Table 1; Netherlands inferred from Maastricht diagnostic laboratory/cohort. |
| 59 | 13513 | m.13513G\>A | G13513A\-F59 | Netherlands inferred | mtDNA disease | 0 | 0 | 2017 | [27450679](https://pubmed.ncbi.nlm.nih.gov/27450679/) | Family 15; Table 1; Netherlands inferred from Maastricht diagnostic laboratory/cohort. |
| 60 | 13513 | m.13513G\>A | [G13513A\-F60 ](https://mitofam.com/doc/1362/)| USA | Leigh syndrome | 2 | 0 | 2016 | [27919073](https://pubmed.ncbi.nlm.nih.gov/27919073/) | Family 3; Family 3 text/table.; USA inferred from OHSU/US clinical reproductive medicine context; family nationality not explicitly stated. |
| 61 | 13513 | m.13513G\>A | G13513A\-F61 | Latvia | Leigh syndrome | 0 | 0 | 2017 | [29228836](https://pubmed.ncbi.nlm.nih.gov/29228836/) | Patient 2 Latvian family; pages 2\-4,6; Latvia; Patient 2 described as Latvian. |
| 62 | 13513 | m.13513G\>A | G13513A\-F62 | China | late\-onset Leigh syndrome | 0 | 0 | 2018 | [30128709](https://pubmed.ncbi.nlm.nih.gov/30128709/) | maternal testing performed for some cohort cases but not mapped to these cases in extracted text.; late\-onset Leigh cohort G13513A cases; pages 1,2,5; Chinese late\-onset Leigh cohort; Peking Union Medical College Hospital; Split merged unrelated cohort carriers into singleton families after PDF review. |
| 63 | 13513 | m.13513G\>A | G13513A\-F63 | China | late\-onset Leigh syndrome | 0 | 0 | 2018 | [30128709](https://pubmed.ncbi.nlm.nih.gov/30128709/) | maternal testing performed for some cohort cases but not mapped to these cases in extracted text.; late\-onset Leigh cohort G13513A cases; pages 1,2,5; Chinese late\-onset Leigh cohort; Peking Union Medical College Hospital; Split merged unrelated cohort carriers into singleton families after PDF review. |
| 64 | 13513 | m.13513G\>A | G13513A\-F64 | China | late\-onset Leigh syndrome | 0 | 0 | 2018 | [30128709](https://pubmed.ncbi.nlm.nih.gov/30128709/) | maternal testing performed for some cohort cases but not mapped to these cases in extracted text.; late\-onset Leigh cohort G13513A cases; pages 1,2,5; Chinese late\-onset Leigh cohort; Peking Union Medical College Hospital; Split merged unrelated cohort carriers into singleton families after PDF review. |
| 65 | 13513 | m.13513G\>A | G13513A\-F65 | Spain inferred | Leigh syndrome with cardiac dysfunction | 0 | 0 | 2019 | [30950033](https://pubmed.ncbi.nlm.nih.gov/30950033/) | Use as support\-only/possible duplicate of an earlier reported patient unless main merge confirms it is independent.; LS patient iPSC/fibroblast line; pages 1\-5,9,11; Spain inferred from Spanish patient/fibroblast/iPSC study and author affiliations. |
| 66 | 13513 | m.13513G\>A | G13513A\-F66 | Russia | LHON | 0 | 0 | 2020 | [31669237](https://pubmed.ncbi.nlm.nih.gov/31669237/) | Mother tested absent in blood and urine.; Patient 3 family; Table 1\.; Russia inferred from Moscow clinical/research institutions and patient context. |
| 67 | 13513 | m.13513G\>A | G13513A\-F67 | Spain | LHON | 0 | 0 | 2019 | [31687263](https://pubmed.ncbi.nlm.nih.gov/31687263/) | relatives not genetically reported.; Spanish LHON case; pages 1\-2; Spanish case report / Lleida\-Barcelona\-Zaragoza affiliations |
| 68 | 13513 | m.13513G\>A | G13513A\-F68 | Czech Republic | Leigh syndrome | 0 | 0 | 2020 | [31996177](https://pubmed.ncbi.nlm.nih.gov/31996177/) | P9 family; Table 1\.; Czech Republic inferred from Czech diagnostic center and patient cohort context. |
| 69 | 13513 | m.13513G\>A | [G13513A\-F69](https://mitofam.com/doc/1363/) | Czech Republic | LHON/MELAS overlap | 2 | 0 | 2020 | [31996177](https://pubmed.ncbi.nlm.nih.gov/31996177/) | P10 family; Table 1 and maternal testing paragraph.; Czech Republic inferred from Czech diagnostic center and patient cohort context. |
| 70 | 13513 | m.13513G\>A | [G13513A\-F70](https://mitofam.com/doc/1364/) | Czech Republic | MELAS | 1 | 0 | 2020 | [31996177](https://pubmed.ncbi.nlm.nih.gov/31996177/) | P11 family; Table 1 and maternal testing paragraph.; Czech Republic inferred from Czech diagnostic center and patient cohort context. |
| 71 | 13513 | m.13513G\>A | G13513A\-F71 | Czech Republic | MELAS | 0 | 0 | 2020 | [31996177](https://pubmed.ncbi.nlm.nih.gov/31996177/) | P12 family; Table 1\.; Czech Republic inferred from Czech diagnostic center and patient cohort context. |
| 72 | 13513 | m.13513G\>A | G13513A\-F72 | Czech Republic | Leigh syndrome | 0 | 0 | 2020 | [31996177](https://pubmed.ncbi.nlm.nih.gov/31996177/) | P13 family; Table 1\.; Czech Republic inferred from Czech diagnostic center and patient cohort context. |
| 73 | 13513 | m.13513G\>A | G13513A\-F73 | Argentina | MELAS | 0 | 0 | 2021 | [33717984](https://pubmed.ncbi.nlm.nih.gov/33717984/) | paper calls m.13513G\>A apparently de novo.; Argentinian MELAS patient with m.13513G\>A; section 3\.1; Argentinian pediatric hospital cohort |
| 74 | 13513 | m.13513G\>A | [G13513A\-F74 ](https://mitofam.com/doc/1365/)| China | LHON | 4 | 0 | 2021 | [33746872](https://pubmed.ncbi.nlm.nih.gov/33746872/) | NGS missed mother; pyrosequencing found 1\.9%.; Chinese LHON family; pages 3\-6; Chinese family stated in article |
| 75 | 13513 | m.13513G\>A | G13513A\-F75 | Japan | pediatric mitochondrial disease with cardiomyopathy | 0 | 0 | 2021 | [34298071](https://pubmed.ncbi.nlm.nih.gov/34298071/) | Exact mutation loads are not available in local main\-text evidence; Supplementary Table 2 would be needed.; Japanese cardiomyopathy m.13513G\>A cases; pages 1\-7; Table 3; Japan; Japanese pediatric mitochondrial disease cohort.; Split five unrelated PMID 34298071 patient IDs into singleton families. |
| 76 | 13513 | m.13513G\>A | G13513A\-F76 | Japan | pediatric mitochondrial disease with cardiomyopathy | 0 | 0 | 2021 | [34298071](https://pubmed.ncbi.nlm.nih.gov/34298071/) | Exact mutation loads are not available in local main\-text evidence; Supplementary Table 2 would be needed.; Japanese cardiomyopathy m.13513G\>A cases; pages 1\-7; Table 3; Japan; Japanese pediatric mitochondrial disease cohort.; Split five unrelated PMID 34298071 patient IDs into singleton families. |
| 77 | 13513 | m.13513G\>A | G13513A\-F77 | Japan | pediatric mitochondrial disease with cardiomyopathy | 0 | 0 | 2021 | [34298071](https://pubmed.ncbi.nlm.nih.gov/34298071/) | Exact mutation loads are not available in local main\-text evidence; Supplementary Table 2 would be needed.; Japanese cardiomyopathy m.13513G\>A cases; pages 1\-7; Table 3; Japan; Japanese pediatric mitochondrial disease cohort.; Split five unrelated PMID 34298071 patient IDs into singleton families. |
| 78 | 13513 | m.13513G\>A | G13513A\-F78 | Japan | pediatric mitochondrial disease with cardiomyopathy | 0 | 0 | 2021 | [34298071](https://pubmed.ncbi.nlm.nih.gov/34298071/) | Exact mutation loads are not available in local main\-text evidence; Supplementary Table 2 would be needed.; Japanese cardiomyopathy m.13513G\>A cases; pages 1\-7; Table 3; Japan; Japanese pediatric mitochondrial disease cohort.; Split five unrelated PMID 34298071 patient IDs into singleton families. |
| 79 | 13513 | m.13513G\>A | G13513A\-F79 | Japan | pediatric mitochondrial disease with cardiomyopathy | 0 | 0 | 2021 | [34298071](https://pubmed.ncbi.nlm.nih.gov/34298071/) | Exact mutation loads are not available in local main\-text evidence; Supplementary Table 2 would be needed.; Japanese cardiomyopathy m.13513G\>A cases; pages 1\-7; Table 3; Japan; Japanese pediatric mitochondrial disease cohort.; Split five unrelated PMID 34298071 patient IDs into singleton families. |
| 80 | 13513 | m.13513G\>A | G13513A\-F80 | Japan | Adult\-onset Leigh syndrome | 0 | 0 | 2022 | [34670906](https://pubmed.ncbi.nlm.nih.gov/34670906/) | Proband; Case report.; Japan; Japanese case report.; Publication year/citation timing needs manual QC; adult\-onset Leigh case retained. |
| 81 | 13513 | m.13513G\>A | G13513A\-F81 | Latvia | Leigh syndrome | 0 | 0 | 2023 | [36975485](https://pubmed.ncbi.nlm.nih.gov/36975485/) | Family structure not reported; cybrid clones excluded as carriers.; Leigh syndrome patient donor; Methods/results describe patient platelets and blood heteroplasmy.; Latvia; patient donor was treated/recruited in Latvia study context |
| 82 | 13513 | m.13513G\>A | G13513A\-F82 | Portugal | Mitochondrial disease / Leigh spectrum | 0 | 0 | 2024 | [38465286](https://pubmed.ncbi.nlm.nih.gov/38465286/) | Paper text/OCR may state m.13513A\>G; context corresponds to MT\-ND5 m.13513G\>A.; Portuguese cohort P120; Cohort genetic results text/table.; Portugal; Portuguese mitochondrial disease cohort |
| 83 | 13513 | m.13513G\>A | G13513A\-F83 | Australia | Mitochondrial disease / complex I defect | 0 | 0 | 2025 | [40400026](https://pubmed.ncbi.nlm.nih.gov/40400026/) | Proteomics validation cohort; family not described.; VC12 validation case; Validation cohort table lists MT\-ND5:m.13513G\>A and fibroblast heteroplasmy.; Australia validation cohort context |
| 84 | 13513 | m.13513G\>A | G13513A\-F84 | ND | ND | 0 | 0 | 2018 | [28429146](https://pubmed.ncbi.nlm.nih.gov/28429146/) | Pt467 G13513A singleton added from PMID 28429146; source provides blood heteroplasmy only. |
| 85 | 13513 | m.13513G\>A | G13513A\-F85 | ND | ND | 0 | 0 | 2018 | [28429146](https://pubmed.ncbi.nlm.nih.gov/28429146/) | Pt744 G13513A singleton added from PMID 28429146; source provides blood heteroplasmy only. |

# **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 | 13513 | m.13513G\>A | G13513A\-F1 | G13513A\-F1\-II1 | Fam | M | Y | Y | D | 43 y presentation; died 45 y | 10% | 51% | / | 34%(Kidney); 53%(Heart); 25%(Liver); 57%(Cerebellum); 54%(Cerebrum frontal lobe) | Childhood hearing loss; cataract; seizures; multiple strokes; myoclonus; aphasia; cortical blindness; headaches; aspiration pneumonia death | High lactate; RRF. |
| 2 | 13513 | m.13513G\>A | G13513A\-F1 | G13513A\-F1\-II2 | Fam | F | N | N | A | ND | \<5% | / | / | / | Healthy |  |
| 3 | 13513 | m.13513G\>A | G13513A\-F2 | G13513A\-F2\-P1 | Uninf | M | Y | Y | D | 20 | 10% | 64% | / | 31%(Brain); 32%(Optic nerve); 24%(Heart); 25%(Liver); 28%(Kidney) | LHON/MELAS overlap; visual loss; stroke\-like/MELAS features | Patient 1 |
| 4 | 13513 | m.13513G\>A | G13513A\-F3 | G13513A\-F3\-P1 | Uninf | M | Y | Y | ND | ND | 11% | 29% | / | / | MELAS phenotype | Patient 2 |
| 5 | 13513 | m.13513G\>A | G13513A\-F4 | G13513A\-F4\-P1 | Uninf | M | Y | Y | ND | ND | / | 70% | / | / | MELAS | Patient 3; Complex I defect. |
| 6 | 13513 | m.13513G\>A | G13513A\-F5 | G13513A\-F5\-P1 | Uninf | M | Y | Y | ND | ND | 0% | 33% | / | / | MELAS phenotype | Patient 4 |
| 7 | 13513 | m.13513G\>A | G13513A\-F6 | G13513A\-F6\-I1 | Uninf | F | Y | Y | D | 44 y | 8% | 77% | / | / | Recurrent stroke\-like episodes and brain hematomas, seizures, deafness, ataxia, spastic quadriparesis, cataract; fatal hemorrhage |  |
| 8 | 13513 | m.13513G\>A | G13513A\-F6 | G13513A\-F6\-II1 | Fam | M | N | Y | ND | ND | / | / | / | / | Sensorineural deafness reported in one of two sons. |  |
| 9 | 13513 | m.13513G\>A | G13513A\-F7 | G13513A\-F7\-P1 | Uninf | M | Y | Y | A | 47 y | / | 55% | / | / | Hearing loss; visual loss; optic atrophy; ataxia; distal atrophy; pyramidal signs | Patient 3; Ragged\-red fibers. |
| 10 | 13513 | m.13513G\>A | G13513A\-F8 | G13513A\-F8\-II1 | Fam | M | Y | Y | ND | attacks at 6 and 11 months; neurologic signs at 2 years | / | \~90% | / | 80\-90%(F) | Leigh syndrome / MELAS\-like encephalopathy | Patient 1 |
| 11 | 13513 | m.13513G\>A | G13513A\-F8 | G13513A\-F8\-I1 | Uninf | F | N | N | A | ND | 5\-20% | / | / | / | Healthy |  |
| 12 | 13513 | m.13513G\>A | G13513A\-F8 | G13513A\-F8\-II2 | Fam | ND | N | N | A | older sibling | / | / | / | / | Healthy |  |
| 13 | 13513 | m.13513G\>A | G13513A\-F8 | G13513A\-F8\-II3 | Fam | ND | N | N | A | older sibling | / | / | / | / | Healthy |  |
| 14 | 13513 | m.13513G\>A | G13513A\-F8 | G13513A\-F8\-II4 | Fam | F | N | Y | D | died at 22 hours | / | / | / | / | severe IUGR; died at 22 h |  |
| 15 | 13513 | m.13513G\>A | G13513A\-F9 | G13513A\-F9\-II1 | Fam | M | Y | Y | ND | 21 months | / | \~90% | / | 80\-90%(F) | Leigh syndrome / MELAS\-like encephalopathy | Patient 2 |
| 16 | 13513 | m.13513G\>A | G13513A\-F9 | G13513A\-F9\-I1 | Uninf | F | N | N | ND | ND | 5\-20% | / | / | / | Healthy |  |
| 17 | 13513 | m.13513G\>A | G13513A\-F10 | G13513A\-F10\-II1 | Fam | M | Y | Y | ND | 24 months | high in lymphocytes, not quantified | \~90% | / | 60%(F) | Leigh syndrome / MELAS\-like encephalopathy | Patient 3 |
| 18 | 13513 | m.13513G\>A | G13513A\-F10 | G13513A\-F10\-I1 | Uninf | F | N | N | ND | ND | 5\-20% | / | / | / | Healthy |  |
| 19 | 13513 | m.13513G\>A | G13513A\-F10 | G13513A\-F10\-II2 | Fam | F | N | N | A | older sister | / | / | / | / | Healthy |  |
| 20 | 13513 | m.13513G\>A | G13513A\-F11 | G13513A\-F11\-II1 | Fam | M | Y | Y | D | 3 years | 29% | 31% | / | 41%(Liver); 46%(F); 35\-42%(Brain regions) | Failure to thrive, ataxia, upward gaze palsy, delayed motor development, high lactate, Leigh MRI; respiratory arrest |  |
| 21 | 13513 | m.13513G\>A | G13513A\-F11 | G13513A\-F11\-I2 | Fam | F | N | N | A | 41 years | 2% | / | 4% | / | Healthy |  |
| 22 | 13513 | m.13513G\>A | G13513A\-F12 | G13513A\-F12\-P1 | Uninf | F | Y | Y | D | 24 years | / | / | / | 44%(F); 24\-47%(Brain regions) | Failure to thrive, severe developmental delay, hemiparesis, spastic quadriplegia, involuntary movements, nystagmus, optic atrophy; bronchopneumonia death | Also reported as Patient 8 in Kirby et al. and Patient 6 in Rahman et al. |
| 23 | 13513 | m.13513G\>A | G13513A\-F13 | G13513A\-F13\-II6 | Fam | M | Y | Y | A | 35 y at investigation | 7% | 26% | / | 6%(Transformed lymphoblasts) | Childhood learning difficulty, bilateral visual loss, progressive deafness, tremor, ataxia, optic atrophy, hypertrophic cardiomyopathy | Coenzyme Q10 150 mg/day |
| 24 | 13513 | m.13513G\>A | G13513A\-F13 | G13513A\-F13\-I2 | Fam | F | N | N | A | 56 years | 2% | / | / | 2%(Transformed lymphoblasts) | Healthy |  |
| 25 | 13513 | m.13513G\>A | G13513A\-F14 | G13513A\-F14\-P1 | Uninf | F | Y | Y | A | 7 years 8 months | / | 70% | / | / | Mental retardation, motor delay, hypotonia, optic atrophy, ptosis, strabismus, facial palsy, ataxia, deafness, WPW; basal ganglia/brainstem MRI. |  |
| 26 | 13513 | m.13513G\>A | G13513A\-F15 | G13513A\-F15\-P1 | Uninf | M | Y | Y | A | 1 year 1 month | / | 63% | / | / | Borderline cognition, motor delay, hypotonia, ptosis, seizure, ataxia, WPW; brainstem/thalamic MRI lesions. |  |
| 27 | 13513 | m.13513G\>A | G13513A\-F16 | G13513A\-F16\-P1 | Uninf | M | Y | Y | A | 2 years 6 months | / | 42% | / | / | Motor delay, hypotonia, seizure, respiratory disturbance, tremor, PSVT; brainstem/thalamic MRI lesions. |  |
| 28 | 13513 | m.13513G\>A | G13513A\-F17 | G13513A\-F17\-P1 | Uninf | M | Y | Y | A | 1 year 2 months | / | 64% | / | / | Motor delay, hypotonia, ptosis, strabismus, facial palsy, incomplete RBBB; brainstem MRI lesion. |  |
| 29 | 13513 | m.13513G\>A | G13513A\-F18 | G13513A\-F18\-P1 | Uninf | F | Y | Y | A | 7 years 8 months | / | 58% | / | / | Mental retardation, motor delay, hypotonia, ptosis, respiratory disturbance, ataxia, depression, ophthalmoplegia, WPW, PSVT, AV block; basal ganglia/brainstem/cerebral MRI lesions. |  |
| 30 | 13513 | m.13513G\>A | G13513A\-F19 | G13513A\-F19\-P1 | Uninf | F | Y | Y | A | 6 years 8 months | / | 58% | / | / | Borderline cognition, hypotonia, optic atrophy, ptosis, strabismus, facial palsy, clumsy movement; normal ECG; basal ganglia/brainstem MRI lesions. |  |
| 31 | 13513 | m.13513G\>A | G13513A\-F20 | G13513A\-F20\-P1 | Uninf | ND | Y | Y | A | ND | / | 80% | / | 60%(F) | Leigh syndrome | Patient 4; Muscle complex I residual activity 15%; fibroblasts normal. |
| 32 | 13513 | m.13513G\>A | G13513A\-F21 | G13513A\-F21\-P1 | De novo | F | Y | Y | A | onset 11 y | 4\-6% | 13\-15% | / | 1\-5%(F) | Exercise intolerance; mild developmental delay; stroke\-like infarct; hemi\-parkinsonism; external ophthalmoplegia/strabismus | Family 3 description.; Source: Patient 3; Complex I deficiency. |
| 33 | 13513 | m.13513G\>A | G13513A\-F22 | G13513A\-F22\-P1 | De novo | M | Y | Y | D | onset 5 m; died 19 m | 11\-17% | 11\-17% | / | 11\-17%(H); 0%(F) | Failure to thrive, psychomotor retardation, high lactate, retinitis pigmentosa, anemia, Leigh MRI | Family 4 description.; Source: Patient 4 |
| 34 | 13513 | m.13513G\>A | G13513A\-F23 | G13513A\-F23\-P1 | Uninf | F | Y | Y | A | onset 18 m; examined 33 y | 47% | 65% | / | / | MELAS | RRF; complex I deficiency; Table 1 of original 12\-case series.; Source: Patient 1 |
| 35 | 13513 | m.13513G\>A | G13513A\-F24 | G13513A\-F24\-P1 | Uninf | M | Y | Y | A | onset 16 y; examined 22 y | 32% | 75% | / | / | MELAS | no RRF; RC normal; Table 1 of original 12\-case series.; Source: Patient 2 |
| 36 | 13513 | m.13513G\>A | G13513A\-F25 | G13513A\-F25\-P1 | Uninf | F | Y | Y | D | onset 61 y; died 63 y | / | 41% | / | / | MELAS | RRF; complexes I/III/IV deficient; Table 1 of original 12\-case series.; Source: Patient 3 |
| 37 | 13513 | m.13513G\>A | G13513A\-F26 | G13513A\-F26\-P1 | Uninf | F | Y | Y | A | onset 2 y; examined 5 y | / | 67% | / | / | Leigh syndrome | pre\-RRF/SSV; complexes I/III/IV deficient; Table 1 of original 12\-case series.; Source: Patient 4 |
| 38 | 13513 | m.13513G\>A | G13513A\-F27 | G13513A\-F27\-P1 | Uninf | F | Y | Y | D | onset 15 m; died 3 y | 69% | 89% | / | / | Leigh syndrome | pre\-RRF/SSV; complex I deficient; Table 1 of original 12\-case series.; Source: Patient 5 |
| 39 | 13513 | m.13513G\>A | G13513A\-F28 | G13513A\-F28\-P1 | Uninf | M | Y | Y | D | onset 4 m; died 14 m | 74% | / | / | / | Leigh syndrome | morphology ND; RC ND; Table 1 of original 12\-case series.; Source: Patient 6 |
| 40 | 13513 | m.13513G\>A | G13513A\-F29 | G13513A\-F29\-P1 | Uninf | M | Y | Y | A | onset 7 m; examined 16 m | / | 50% | / | / | Leigh syndrome | pre\-RRF; RC normal; Table 1 of original 12\-case series.; Source: Patient 7 |
| 41 | 13513 | m.13513G\>A | G13513A\-F30 | G13513A\-F30\-P1 | Uninf | F | Y | Y | D | onset 3 m; died 14 m | 80% | 89% | / | / | Leigh syndrome | muscle normal; RC normal; Table 1 of original 12\-case series.; Source: Patient 8 |
| 42 | 13513 | m.13513G\>A | G13513A\-F31 | G13513A\-F31\-P1 | Uninf | F | Y | Y | A | onset 6 m; examined 4 y | / | / | / | / | Leigh syndrome | mutation load /; Table 1 of original 12\-case series.; Source: Patient 9 |
| 43 | 13513 | m.13513G\>A | G13513A\-F32 | G13513A\-F32\-P1 | Uninf | F | Y | Y | A | onset 4 m; examined 2 y | 90% | 86% | 95% | / | Leigh syndrome | urine 95%; pre\-RRF/SSV; complexes I/III/IV deficient; Table 1 of original 12\-case series.; Source: Patient 10 |
| 44 | 13513 | m.13513G\>A | G13513A\-F33 | G13513A\-F33\-P1 | Uninf | F | Y | Y | D | onset 4 m; died 14 m | / | 86% | / | / | Leigh syndrome | normal muscle; complex I deficient; Table 1 of original 12\-case series.; Source: Patient 11 |
| 45 | 13513 | m.13513G\>A | G13513A\-F34 | G13513A\-F34\-P1 | Uninf | M | Y | Y | A | onset 6 m; examined 17 m | / | 88% | / | / | Leigh syndrome | SSV; complex I deficient; Table 1 of original 12\-case series.; Source: Patient 12 |
| 46 | 13513 | m.13513G\>A | G13513A\-F35 | G13513A\-F35\-P1 | De novo | F | Y | Y | A | 24 months | / | 42% | / | / | Seizures, ptosis, tremulousness, brainstem MRI lesion, sensorineural hearing loss. | Mother blood negative.; text and Fig.1; Source: Patient 1 |
| 47 | 13513 | m.13513G\>A | G13513A\-F36 | G13513A\-F36\-P1 | De novo | M | Y | Y | A | 22 months | 29% | / | / | 16%(F) | Developmental delay/regression; hypotonia; strabismus; respiratory distress; tracheostomy; gastrostomy | Mother blood negative.; text and Fig.1; Source: Patient 2; Partial complex I reduction. |
| 48 | 13513 | m.13513G\>A | G13513A\-F37 | G13513A\-F37\-P1 | Uninf | M | Y | Y | A | 15 months | 32% | 42% | / | / | Poor weight gain, developmental delay, transient seizures, elevated lactate, mild hypotonia, ptosis, facial weakness. | text and Fig.1; Source: Patient 3 |
| 49 | 13513 | m.13513G\>A | G13513A\-F38 | G13513A\-F38\-P1 | Uninf | M | Y | Y | A | 30 months | 23% | / | / | / | Esotropia, vomiting/regression, fatigue, hypotonia, brainstem MRI lesion. | text and Fig.1; Source: Patient 4 |
| 50 | 13513 | m.13513G\>A | G13513A\-F39 | G13513A\-F39\-P1 | Uninf | F | Y | Y | A | 16 months | 40% | / | / | / | Hypotonia and ocular/cerebellar features. | text and Fig.1; Source: Patient 5 |
| 51 | 13513 | m.13513G\>A | G13513A\-F40 | G13513A\-F40\-P1 | Uninf | M | Y | Y | A | 24 months | / | / | / | 38%(F) | Seizure and sensorineural hearing loss reported in table. | text/Table/Fig.1; Source: Patient 6 |
| 52 | 13513 | m.13513G\>A | G13513A\-F41 | G13513A\-F41\-P1 | Uninf | F | Y | Y | A | 18 mo | Het | Het | / | / | Developmental regression; Leigh syndrome; WPW syndrome; hypertrophic then dilated cardiomyopathy; elevated lactate; brainstem/thalamic lesions; pale optic discs | Heteroplasmy shown by RFLP/direct sequencing without reliable percentage extraction.; Molecular testing paragraph.; Source: Patient |
| 53 | 13513 | m.13513G\>A | G13513A\-F42 | G13513A\-F42\-P1 | Uninf | ND | Y | Y | ND | ND | / | 28% | / | / | MELAS/Leigh | Deidentified assay\-validation specimen; sex/age/family not reported.; Table 1: MELAS/LEIGH m.13513G\>A 28% muscle.; Source: MELAS/Leigh specimen |
| 54 | 13513 | m.13513G\>A | G13513A\-F43 | G13513A\-F43\-P1 | Uninf | M | Y | Y | A | 5 | Het | Het | / | / | Progressive ataxia; psychomotor regression; ophthalmoplegia; ptosis; seizures; right hemiplegia; basal ganglia/midbrain lesions | Bedridden/alive in report; exact heteroplasmy percentages not extractable.; Case 2 paragraph and molecular figure.; Source: Case 2; Elevated lactate; complex I deficiency. |
| 55 | 13513 | m.13513G\>A | G13513A\-F44 | G13513A\-F44\-P1 | Uninf | F | Y | Y | D | 22 | / | / | / | 46%(Brain) | Seizures; stroke\-like episodes; cortical blindness; cognitive impairment; ophthalmoplegia; ataxia | autopsy case; Table 1: F/22, brain 46%; Source: Patient 1; RRF. |
| 56 | 13513 | m.13513G\>A | G13513A\-F45 | G13513A\-F45\-P1 | Uninf | M | Y | Y | ND | 16 | 52% | / | / | / | exercise intolerance; cognitive decline; dysarthria; ataxia; depression; polyneuropathy; WPW | family history No; Table 1: M/16, blood 52%; Source: Patient 2 |
| 57 | 13513 | m.13513G\>A | G13513A\-F46 | G13513A\-F46\-P1 | Uninf | F | Y | Y | ND | 13 | 61% | / | / | / | Psychomotor developmental delay; optic neuropathy; emotional disturbance; generalized weakness; WPW | family history No; Table 1: F/13, blood 61%; Source: Patient 3; RRF. |
| 58 | 13513 | m.13513G\>A | G13513A\-F47 | G13513A\-F47\-P1 | De novo | F | Y | Y | ND | 11 | 50% | / | / | / | central retinal vein occlusion; visual loss; headache; stroke\-like episodes; high serum/CSF lactate | parents and two brothers negative in blood; case report and Fig. 4; Source: patient |
| 59 | 13513 | m.13513G\>A | G13513A\-F48 | G13513A\-F48\-II1 | Fam | ND | Y | Y | A | ND | / | 31% | / | / | Leigh syndrome. | Table 1; Source: proband |
| 60 | 13513 | m.13513G\>A | G13513A\-F48 | G13513A\-F48\-I2 | Fam | F | N | N | A | ND | / | / | 4% | / | Healthy | Table 1; Source: mother; Urine low\-level positive. |
| 61 | 13513 | m.13513G\>A | G13513A\-F49 | G13513A\-F49\-P1 | Uninf | ND | Y | Y | A | ND | / | / | / | 44%(F) | Leigh syndrome. | Table 1; Source: proband |
| 62 | 13513 | m.13513G\>A | G13513A\-F50 | G13513A\-F50\-P1 | Uninf | ND | Y | Y | A | ND | \~30% | / | / | / | Leigh syndrome. | Table 1; Source: proband |
| 63 | 13513 | m.13513G\>A | G13513A\-F51 | G13513A\-F51\-II1 | Fam | ND | Y | Y | A | ND | / | 26% | / | / | Leigh syndrome. | Table 1; Source: proband |
| 64 | 13513 | m.13513G\>A | G13513A\-F51 | G13513A\-F51\-I2 | Fam | F | N | N | A | ND | 2% | / | / | / | Healthy | Table 1; Source: mother; Blood low\-level positive. |
| 65 | 13513 | m.13513G\>A | G13513A\-F52 | G13513A\-F52\-P1 | Uninf | F | Y | Y | A | 30 | / | / | / | / | Visual loss; ophthalmoplegia; ptosis; seizures; progressive weakness; dysarthria; cognitive decline | Onset at age 13; family history negative.; Patient 4 description and variant table.; Source: Patient 4; RRF/SSV. |
| 66 | 13513 | m.13513G\>A | G13513A\-F53 | G13513A\-F53\-P1 | Uninf | F | Y | Y | A | 8 | / | / | / | Positive(ND) | Leigh syndrome; NPMDS 36\.8 at baseline | Weight 21 kg in table.; Table 1\.; Source: Subject 4 |
| 67 | 13513 | m.13513G\>A | G13513A\-F53 | G13513A\-F53\-P2 | Uninf | M | Y | Y | A | 8 | / | / | / | Positive(ND) | Leigh syndrome; NPMDS 18\.7 at baseline | Weight 21\.3 kg in table.; Table 1\.; Source: Subject 7 |
| 68 | 13513 | m.13513G\>A | G13513A\-F54 | G13513A\-F54\-P1 | Uninf | F | Y | Y | A | \<1 year | / | / | / | / | Psychomotor retardation; stroke\-like episodes; hypotonia; ptosis; HCM; optic atrophy; deafness; Leigh/stroke\-like | Anonymous aggregate row.; Table 1; Source: aggregate patient 1; RRF; decreased complex I in muscle. |
| 69 | 13513 | m.13513G\>A | G13513A\-F54 | G13513A\-F54\-P2 | Uninf | M | Y | Y | A | \<1 year | / | / | / | / | PMR/regression, stroke\-like episodes, migraine\-like headache, behavioral symptom, peripheral neuropathy, PEO; Leigh/stroke\-like/white matter lesions. | Anonymous aggregate row.; Table 1; Source: aggregate patient 2 |
| 70 | 13513 | m.13513G\>A | G13513A\-F54 | G13513A\-F54\-P3 | Uninf | F | Y | Y | A | 1\-16 years | / | / | / | / | Ataxia; mitochondrial encephalopathy; cataract; renal involvement; deafness; postnatal growth retardation; Leigh/cerebral atrophy | Anonymous aggregate row.; Table 1; Source: aggregate patient 3; RRF. |
| 71 | 13513 | m.13513G\>A | G13513A\-F54 | G13513A\-F54\-P4 | Uninf | F | Y | Y | A | 1\-16 years | / | / | / | / | Ataxia; optic atrophy; postnatal growth retardation; Leigh/cerebellar atrophy | Anonymous aggregate row.; Table 1; Source: aggregate patient 4; Lipidosis/RRF/decreased complex I in muscle. |
| 72 | 13513 | m.13513G\>A | G13513A\-F55 | G13513A\-F55\-I2 | Fam | F | N | ND | A | ND | 45% | / | / | / | ND | Current fetus and baby were negative and are not carrier rows.; Table 1 row 11 and results text.; Source: Mother/patient 11; Mother phenotype not explicitly stated; marked ND.; Mother referred because of previously affected child; maternal clinical status not specified. |
| 73 | 13513 | m.13513G\>A | G13513A\-F55 | G13513A\-F55\-II1 | Fam | ND | N | N | A | 12 weeks | 0% | / | / | 0%(CVB) | Healthy | CVB and baby blood DNA negative; mother blood 45% positive; included per new skill rule for negative\-tested maternal\-line child.; Mother phenotype not explicitly stated; marked ND.; Baby clinically well at 12 weeks; target mutation not detected. |
| 74 | 13513 | m.13513G\>A | G13513A\-F56 | G13513A\-F56\-P1 | Uninf | ND | Y | Y | ND | ND | / | 80% | / | / | Mitochondrial disease diagnostic context | Clinical phenotype not detailed in extracted evidence.; Table lists m.13513G\>A in muscle at 80%.; Source: Sample 24 |
| 75 | 13513 | m.13513G\>A | G13513A\-F57 | G13513A\-F57\-P1 | De novo | ND | Y | Y | A | 19 years | 4\-6% | 13\-15% | / | 1\-5%(F) | Mitochondrial disease; low heteroplasmy in multiple tissues. | Mother, two sisters and maternal grandmother negative in tested tissues.; Table 1: Family 13 m.13513G\>A loads and maternal relatives negative.; Source: index patient |
| 76 | 13513 | m.13513G\>A | G13513A\-F58 | G13513A\-F58\-P1 | De novo | ND | Y | Y | A | 1 year | 11\-16% | 16% | / | 17%(H); 0%(F) | Mitochondrial disease; exact phenotype not fully in local text. | Mother and maternal grandmother negative in tested blood/hair.; Table 1: Family 14 m.13513G\>A loads; relatives negative.; Source: index patient |
| 77 | 13513 | m.13513G\>A | G13513A\-F59 | G13513A\-F59\-P1 | De novo | ND | Y | Y | A | 42 years | 1% | 10% | / | / | Mitochondrial disease | Mother negative in blood and muscle.; Table 1: Family 15 m.13513G\>A loads and mother negative.; Source: index patient; Low blood and muscle heteroplasmy. |
| 78 | 13513 | m.13513G\>A | G13513A\-F60 | G13513A\-F60\-II1 | Fam | M | Y | Y | A | 12 y | 56% | / | 97% | 86%(F) | Leigh syndrome | Family 3 description.; Source: Affected boy |
| 79 | 13513 | m.13513G\>A | G13513A\-F60 | G13513A\-F60\-II2 | Fam | M | N | N | A | 19 y | 10% | / | 23% | 14%(F) | Healthy | Family 3 description.; Source: Brother |
| 80 | 13513 | m.13513G\>A | G13513A\-F60 | G13513A\-F60\-I2 | Fam | F | N | N | A | 36 y | 3% | / | 39% | 98%(F) | Healthy | Family 3 description.; Source: Mother |
| 81 | 13513 | m.13513G\>A | G13513A\-F61 | G13513A\-F61\-P1 | De novo | M | Y | Y | A | 6 years | 60% | / | / | / | Leigh syndrome: seizures, hypotonia, psychomotor retardation, strabismus, optic nerve atrophy, moderate intellectual disability. | Mother and brother were negative in blood.; pages 2\-4,6; Source: Patient 2 |
| 82 | 13513 | m.13513G\>A | G13513A\-F62 | G13513A\-F62\-P1 | Uninf | M | Y | Y | ND | 15 onset | 35% | / | / | / | mental retardation; seizures; stroke\-like episodes; ataxia; pyramidal and extrapyramidal signs; bulbar palsy | cohort case; Tables 1 and 3; Source: Case 3 |
| 83 | 13513 | m.13513G\>A | G13513A\-F63 | G13513A\-F63\-P1 | Uninf | M | Y | Y | ND | 12 onset | 42% | / | / | / | mental retardation; seizures; stroke\-like episodes; limited eye ocular motility; ataxia; pyramidal signs; bulbar palsy | cohort case; Tables 1 and 3; Source: Case 8 |
| 84 | 13513 | m.13513G\>A | G13513A\-F64 | G13513A\-F64\-P1 | Uninf | F | Y | Y | ND | 19 onset | 25% | / | / | / | seizures; stroke\-like episodes; pyramidal signs | cohort case; Tables 1 and 3; Source: Case 9 |
| 85 | 13513 | m.13513G\>A | G13513A\-F65 | G13513A\-F65\-P1 | Uninf | M | Y | Y | D | 15 months | / | / | / | Positive(F); 16\.21\-45\.25%(iPSC clones) | Leigh syndrome, left ventricular hypertrophy, patent foramen ovale, cardiac dysfunction; died at 15 months. | Mother had Wolff\-Parkinson\-White clinically but no molecular carrier result reported.; pages 2\-5,9,11; patient\-derived fibroblast/iPSC descriptions and survival statement.; Source: LS patient; Original fibroblast load not text\-stated. |
| 86 | 13513 | m.13513G\>A | G13513A\-F66 | G13513A\-F66\-P1 | De novo | ND | Y | Y | A | onset 22 y | 24% | / | 85% | 24%(F) | Sudden painless bilateral visual loss; LHON | Table 1\.; Source: Patient 3 |
| 87 | 13513 | m.13513G\>A | G13513A\-F67 | G13513A\-F67\-P1 | Uninf | M | Y | Y | ND | 16 | 29% | / | / | / | progressive bilateral visual loss; optic nerve atrophy/pseudoedema; hypertrophic cardiomyopathy; myopathy | no family history in first\-degree relatives; NGS detected m.13513G\>A at 29% blood; Source: patient |
| 88 | 13513 | m.13513G\>A | G13513A\-F68 | G13513A\-F68\-P1 | Uninf | ND | Y | Y | D | onset 1 m; died 3\.3 y | 58% | 67% | / | 65%(F) | Hypotony; Leigh syndrome | Table 1\.; Source: P9 |
| 89 | 13513 | m.13513G\>A | G13513A\-F69 | G13513A\-F69\-II1 | Fam | ND | Y | Y | A | onset 6 y; alive 20\.5 y | 44% | 48% | 81% | 40%(F); 66%(H); 55%(BM) | Optic neuropathy; LHON/MELAS overlap | Table 1\.; Source: P10 |
| 90 | 13513 | m.13513G\>A | G13513A\-F69 | G13513A\-F69\-I2 | Fam | F | N | N | A | ND | / | / | / | Positive(ND) | Healthy | Maternal testing paragraph.; Source: P10 mother |
| 91 | 13513 | m.13513G\>A | G13513A\-F69 | G13513A\-F69\-II2 | Fam | F | N | N | A | ND | / | / | / | Positive(ND) | Healthy | Maternal testing paragraph.; Source: P10 sister |
| 92 | 13513 | m.13513G\>A | G13513A\-F70 | G13513A\-F70\-II1 | Fam | ND | Y | Y | A | onset 10 y; alive 25 y | 35% | 97% | 92% | 4%(F); 86%(H); 68%(BM) | Stroke\-like episode; MELAS | Table 1\.; Source: P11 |
| 93 | 13513 | m.13513G\>A | G13513A\-F70 | G13513A\-F70\-I2 | Fam | F | N | N | A | ND | / | / | / | Positive(ND) | Healthy | Maternal testing paragraph.; Source: P11 mother |
| 94 | 13513 | m.13513G\>A | G13513A\-F71 | G13513A\-F71\-P1 | Uninf | ND | Y | Y | A | onset 10 y; alive 22 y | 21% | / | 74% | 9%(H); 5%(BM) | Hearing loss; MELAS phenotype | Table 1\.; Source: P12 |
| 95 | 13513 | m.13513G\>A | G13513A\-F72 | G13513A\-F72\-P1 | Uninf | F | Y | Y | A | onset 5 m; alive 6\.5 y | 64% | / | 80% | 4%(H); 71%(BM) | Nystagmus; Leigh syndrome | Table 1; text says P13 is one of two surviving LS girls.; Source: P13 |
| 96 | 13513 | m.13513G\>A | G13513A\-F73 | G13513A\-F73\-P1 | De novo | F | Y | Y | ND | ND | approx 20% | / | / | / | MELAS | mother blood not detectable by Sanger; m.13513G\>A heteroplasmic; ARMS qPCR approx 20%; Source: MELAS patient; Individual signs not separately tabulated for this variant. |
| 97 | 13513 | m.13513G\>A | G13513A\-F74 | G13513A\-F74\-II4 | Fam | M | Y | Y | ND | 16 | 33\.56%; 26%; 22\.4% | / | / | / | isolated LHON; bilateral visual loss/optic neuropathy | 33\.56% at 3 months and 26% at 3 years by NGS; 22\.4% by pyrosequencing; case text and Fig. 2; Source: II\-4 |
| 98 | 13513 | m.13513G\>A | G13513A\-F74 | G13513A\-F74\-I2 | Fam | F | N | N | ND | ND | 1\.9% by pyrosequencing; NGS negative | / | / | / | Healthy | low\-level carrier; Fig. 2; Source: I\-2 mother |
| 99 | 13513 | m.13513G\>A | G13513A\-F74 | G13513A\-F74\-II3 | Fam | F | N | N | ND | ND | 0% | / | / | / | Healthy | II\-3 sister had 0% m.13513G\>A by pyrosequencing; mother I\-2 was low\-level positive at 1\.9%; included per new skill rule for negative\-tested maternal\-line descendant.; No systemic or ophthalmic abnormalities reported. |
| 100 | 13513 | m.13513G\>A | G13513A\-F74 | G13513A\-F74\-II1 | Fam | M | N | N | ND | ND | 0% | / | / | / | Healthy | II\-1 half\-brother had 0% m.13513G\>A by pyrosequencing; mother I\-2 was low\-level positive at 1\.9%; included per new skill rule for negative\-tested maternal\-line descendant.; No systemic or ophthalmic abnormalities reported. |
| 101 | 13513 | m.13513G\>A | G13513A\-F74 | G13513A\-F74\-II2 | Fam | F | N | N | ND | ND | 0% | / | / | / | Healthy | II\-2 half\-sister had 0% m.13513G\>A by pyrosequencing; mother I\-2 was low\-level positive at 1\.9%; included per new skill rule for negative\-tested maternal\-line descendant.; No systemic or ophthalmic abnormalities reported. |
| 102 | 13513 | m.13513G\>A | G13513A\-F75 | G13513A\-F75\-P1 | Uninf | M | Y | Y | A | 4 months | / | / | / | / | Infantile mitochondrial disease; hypertrophic cardiomyopathy; alive at 8 yr 5 mo. | Table 3; Source: Pt0450 |
| 103 | 13513 | m.13513G\>A | G13513A\-F76 | G13513A\-F76\-P1 | Uninf | M | Y | Y | D | 1 month | / | / | / | / | Leigh syndrome; HCM plus WPW; died at 2 yr 4 mo. | Table 3; Source: Pt0467 |
| 104 | 13513 | m.13513G\>A | G13513A\-F77 | G13513A\-F77\-P1 | Uninf | M | Y | Y | D | 5 months | / | / | / | / | Leigh syndrome; HCM plus WPW; died at 9 yr 1 mo. | Table 3; Source: Pt0806 |
| 105 | 13513 | m.13513G\>A | G13513A\-F78 | G13513A\-F78\-P1 | Uninf | F | Y | Y | D | 3 months | / | / | / | / | Leigh syndrome; HCM plus WPW; died at 1 yr 1 mo. | Table 3; Source: Pt1466 |
| 106 | 13513 | m.13513G\>A | G13513A\-F79 | G13513A\-F79\-P1 | Uninf | F | Y | Y | D | 0 days | / | / | / | / | Infantile mitochondrial disease; HCM plus WPW; died at 1 month. | Table 3; Source: Pt2157 |
| 107 | 13513 | m.13513G\>A | G13513A\-F80 | G13513A\-F80\-P1 | Uninf | M | Y | Y | A | 32 y | / | / | / | / | Progressive ptosis, ophthalmoplegia, dysuria/dyschezia, hearing loss and renal failure from age 23, CSF lactate/pyruvate elevation, midbrain/hypothalamic MRI lesions | Mutation detected by genetic analysis; heteroplasmy/tissue not reported.; Case report.; Source: Patient |
| 108 | 13513 | m.13513G\>A | G13513A\-F81 | G13513A\-F81\-P1 | Uninf | ND | Y | Y | ND | ND | 60% | / | / | 50%(Cybrid clones); 70%(Cybrid clones) | Leigh syndrome | Only original human donor counted; cybrids are experimental derivatives.; Text reports m.13513G\>A 60% in blood and cybrid heteroplasmy levels.; Source: Patient donor; OXPHOS/complex I functional study context. |
| 109 | 13513 | m.13513G\>A | G13513A\-F82 | G13513A\-F82\-P1 | Uninf | ND | Y | Y | ND | ND | Het | Het | / | / | Mitochondrial disease cohort case | Exact percentages not available; muscle sample noted; mother negative.; Cohort table/text.; Source: P120 |
| 110 | 13513 | m.13513G\>A | G13513A\-F83 | G13513A\-F83\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | 71%(F) | Rare mitochondrial disease | Only fibroblast heteroplasmy is reported in accessible evidence.; Validation table/figure text reports VC12 fibroblast 71%.; Source: VC12; Proteomic complex I diagnostic context. |
| 111 | 13513 | m.13513G\>A | G13513A\-F84 | G13513A\-F84\-P1 | Uninf | ND | Y | ND | ND | ND | 59% | / | / | / | ND | Added from source table; limited phenotype/demographics. |
| 112 | 13513 | m.13513G\>A | G13513A\-F85 | G13513A\-F85\-P1 | Uninf | ND | Y | ND | ND | ND | 50% | / | / | / | ND | Added from source table; limited phenotype/demographics. |

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