About Mitofam
Add Pedigree
Help
About Mitofam
Add Pedigree
Help
MT-ND4
A11375C
A11467G
A11467G-F2
A11467G-F1
A11470C
A11519C
A11523C
A12033G
A12033G-F1
C11240T
C11240T-F1
C11527T
C11777A
C11777A-F7
C11777A-F6
C11777A-F5
C11874A
G11150A
G11696A
G11696A-F7
G11696A-F1
G11778A
G11778A-F632
G11778A-F2
G11778A-F3
G11778A-F4
G11778A-F5
G11778A-F6
G11778A-F8
G11778A-F13
G11778A-F14
G11778A-F15
G11778A-F16
G11778A-F17
G11778A-F19
G11778A-F20
G11778A-F26
G11778A-F29
G11778A-F33
G11778A-F34
G11778A-F37
G11778A-F41
G11778A-F42
G11778A-F44
G11778A-F46
G11778A-F51
G11778A-F55
G11778A-F56
G11778A-F61
G11778A-F68
G11778A-F70
G11778A-F69
G11778A-F63
G11778A-F73
G11778A-F76
G11778A-F77
G11778A-F78
G11778A-F82
G11778A-F84
G11778A-F85
G11778A-F86
G11778A-F87
G11778A-F88
G11778A-F90
G11778A-F91
G11778A-F92
G11778A-F93
G11778A-F100
G11778A-F101
G11778A-F105
G11778A-F106
G11778A-F107
G11778A-F109
G11778A-F114
G11778A-F115
G11778A-F116
G11778A-F117
G11778A-F118
G11778A-F119
G11778A-F120
G11778A-F122
G11778A-F125
G11778A-F124
G11778A-F121
G11778A-F126
G11778A-F127
G11778A-F128
G11778A-F131
G11778A-F141
G11778A-F171
G11778A-F174
G11778A-F202
G11778A-F206
G11778A-F208
G11778A-F216
G11778A-F217
G11778A-F221
G11778A-F222
G11778A-F223
G11778A-F224
G11778A-F225
G11778A-F228
G11778A-F227
G11778A-F229
G11778A-F248
G11778A-F249
G11778A-F305
G11778A-F312
G11778A-F313
G11778A-F317
G11778A-F328
G11778A-F329
G11778A-F330
G11778A-F332
G11778A-F338
G11778A-F339
G11778A-F340
G11778A-F331
G11778A-F341
G11778A-F342
G11778A-F343
G11778A-F346
G11778A-F352
G11778A-F358
G11778A-F365
G11778A-F369
G11778A-F370
G11778A-F366
G11778A-F371
G11778A-F372
G11778A-F379
G11778A-F377
G11778A-F399
G11778A-F437
G11778A-F438
G11778A-F439
G11778A-F440
G11778A-F441
G11778A-F451
G11778A-F498
G11778A-F500
G11778A-F501
G11778A-F544
G11778A-F545
G11778A-F546
G11778A-F566
G11778A-F562
G11778A-F563
G11778A-F585
G11778A-F586
G11778A-F587
G11778A-F588
G11778A-F607
G11778A-F608
G11778A-F609
G11778A-F612
G11778A-F613
G11778A-F614
G11778A-F615
G11778A-F616
G11778A-F622
G11778A-F623
G11778A-F624
G11778A-F621
G11778A-F625
G11778A-F626
G11778A-F628
G11778A-F629
G11778A-F637
G11778A-F638
G11778A-F639
G11778A-F674
G11778A-F707
G11778A-F676
G11778A-F708
G11778A-F711
G11778A-F716
G11832A
T11042C
T11042C-F1
T11232C
T11253C
T11365C
T11406A
T11984C
T11984C-F1
T12015C
Edit by Mitofam Team
-
+
首页
G11778A
# **General Information** | **Position** | **11778** | **Variant** | **m.11778G\>A** | **Locus** | **MT\-ND4** | **Amino\-AcidChange** | **R340H** | | --- | --- | --- | --- | --- | --- | --- | --- | | **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.11778G\>A** variant in MT\-ND4 has been reported in 721 pedigrees. To date, 1322 carriers have been reported. Homoplasmy was reported in 564/1322 carriers (42\.7%), and 966/1322 carriers (73\.1%) were affected. In one unaffected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in other tissue (100%) than in blood (50%). In one unaffected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in other tissue (100%) than in blood (50%). Similar tissue\-specific differences were observed in 4 additional carriers. The main clinical manifestations among affected carriers included LHON, visual loss, bilateral optic neuropathy, leber hereditary optic neuropathy, optic atrophy, severe visual impairment, optic atrophy no, moderate visual impairment, and other features. | **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** | | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | | 1 | 11778 | m.11778G\>A | G11778A\-F1 | United States | LHON | ND | ND | 1999 | [10216058](https://pubmed.ncbi.nlm.nih.gov/10216058/) | | | 2 | 11778 | m.11778G\>A | [G11778A\-F2](https://mitofam.com/doc/1888/) | Eastern Europe | LHON | 1 | 1 | 1992 | [1346348](https://pubmed.ncbi.nlm.nih.gov/1346348/) | Paper pedigree A | | 3 | 11778 | m.11778G\>A | [G11778A\-F3](https://mitofam.com/doc/1889/) | USA | LHON | 4 | 2 | 1992 | [1346348](https://pubmed.ncbi.nlm.nih.gov/1346348/) | Paper pedigree B | | 4 | 11778 | m.11778G\>A | [G11778A\-F4](https://mitofam.com/doc/1890/) | USA | LHON | 3 | 0 | 1992 | [1346348](https://pubmed.ncbi.nlm.nih.gov/1346348/) | Paper pedigree C | | 5 | 11778 | m.11778G\>A | [G11778A\-F5](https://mitofam.com/doc/1891) | Canada | LHON | 8 | 0 | 1992 | [1346348](https://pubmed.ncbi.nlm.nih.gov/1346348/) | Paper pedigree D | | 6 | 11778 | m.11778G\>A | [G11778A\-F6](https://mitofam.com/doc/1893/) | Australia | LHON | 45 | 29 | 1992 | [1352537](https://pubmed.ncbi.nlm.nih.gov/1352537/) | | | 7 | 11778 | m.11778G\>A | G11778A\-F7 | Japan | LHON | ND | ND | 1992 | [1353825](https://pubmed.ncbi.nlm.nih.gov/1353825/) | | | 8 | 11778 | m.11778G\>A | [G11778A\-F8](https://mitofam.com/doc/1894/) | USA | LHON with visual recovery | ND | ND | 1992 | [1532593](https://pubmed.ncbi.nlm.nih.gov/1532593/) | | | 9 | 11778 | m.11778G\>A | G11778A\-F9 | USA | LHON with visual recovery | ND | ND | 1992 | [1532593](https://pubmed.ncbi.nlm.nih.gov/1532593/) | | | 10 | 11778 | m.11778G\>A | G11778A\-F10 | USA | LHON with visual recovery | ND | ND | 1992 | [1532593](https://pubmed.ncbi.nlm.nih.gov/1532593/) | | | 11 | 11778 | m.11778G\>A | G11778A\-F11 | USA | LHON with visual recovery | ND | ND | 1992 | [1532593](https://pubmed.ncbi.nlm.nih.gov/1532593/) | | | 12 | 11778 | m.11778G\>A | G11778A\-F12 | USA | LHON with visual recovery | ND | ND | 1992 | [1532593](https://pubmed.ncbi.nlm.nih.gov/1532593/) | | | 13 | 11778 | m.11778G\>A | [G11778A\-F13](https://mitofam.com/doc/1895/) | Sweden | LHON | 9 | 3 | 1991 | [1763894](https://pubmed.ncbi.nlm.nih.gov/1763894/) | | | 14 | 11778 | m.11778G\>A | [G11778A\-F14](https://mitofam.com/doc/1896/) | Italy | LHON | 5 | 3 | 1991 | [1866007](https://pubmed.ncbi.nlm.nih.gov/1866007/) | | | 15 | 11778 | m.11778G\>A | [G11778A\-F15](https://mitofam.com/doc/1897/) | Italy | Leber hereditary optic neuropathy | 2 | 1 | 1991 | [1937476](https://pubmed.ncbi.nlm.nih.gov/1937476/) | | | 16 | 11778 | m.11778G\>A | [G11778A\-F16](https://mitofam.com/doc/1898/) | USA | LHON | 3 | 1 | 1990 | [1977373](https://pubmed.ncbi.nlm.nih.gov/1977373/) | | | 17 | 11778 | m.11778G\>A | [G11778A\-F17](https://mitofam.com/doc/1899/) | USA | LHON | ND | ND | 1994 | [2039048](https://pubmed.ncbi.nlm.nih.gov/2039048/) | Pedigree No. 1 | | 18 | 11778 | m.11778G\>A | G11778A\-F18 | USA | LHON | ND | ND | 1994 | [2039048](https://pubmed.ncbi.nlm.nih.gov/2039048/) | Pedigree No. 4 | | 19 | 11778 | m.11778G\>A | [G11778A\-F19](https://mitofam.com/doc/1900/) | USA | LHON | ND | ND | 1994 | [2039048](https://pubmed.ncbi.nlm.nih.gov/2039048/) | Pedigree No. 5 | | 20 | 11778 | m.11778G\>A | [G11778A\-F20](https://mitofam.com/doc/1901/) | USA | LHON | ND | ND | 1994 | [2039048](https://pubmed.ncbi.nlm.nih.gov/2039048/) | Pedigree No. 6 | | 21 | 11778 | m.11778G\>A | G11778A\-F21 | USA | LHON | ND | ND | 1994 | [2039048](https://pubmed.ncbi.nlm.nih.gov/2039048/) | Pedigree No. 8 | | 22 | 11778 | m.11778G\>A | G11778A\-F22 | USA | LHON | ND | ND | 1994 | [2039048](https://pubmed.ncbi.nlm.nih.gov/2039048/) | Pedigree No. 9 | | 23 | 11778 | m.11778G\>A | G11778A\-F23 | USA | LHON | ND | ND | 1994 | [2039048](https://pubmed.ncbi.nlm.nih.gov/2039048/) | Pedigree No. 10 | | 24 | 11778 | m.11778G\>A | G11778A\-F24 | USA | LHON | ND | ND | 1994 | [2039048](https://pubmed.ncbi.nlm.nih.gov/2039048/) | Pedigree No. 11 | | 25 | 11778 | m.11778G\>A | G11778A\-F25 | USA | LHON | ND | ND | 1994 | [2039048](https://pubmed.ncbi.nlm.nih.gov/2039048/) | Pedigree No. 12 | | 26 | 11778 | m.11778G\>A | [G11778A\-F26](https://mitofam.com/doc/1902/) | USA | LHON | ND | ND | 1994 | [2039048](https://pubmed.ncbi.nlm.nih.gov/2039048/) | Pedigree No. 13 | | 27 | 11778 | m.11778G\>A | G11778A\-F27 | USA | LHON | ND | ND | 1994 | [2039048](https://pubmed.ncbi.nlm.nih.gov/2039048/) | Pedigree No. 15 | | 28 | 11778 | m.11778G\>A | G11778A\-F28 | USA | LHON | ND | ND | 1994 | [2039048](https://pubmed.ncbi.nlm.nih.gov/2039048/) | Pedigree No. 16 | | 29 | 11778 | m.11778G\>A | [G11778A\-F29](https://mitofam.com/doc/1903/) | USA | LHON | ND | ND | 1994 | [2039048](https://pubmed.ncbi.nlm.nih.gov/2039048/) | Pedigree No. 18 | | 30 | 11778 | m.11778G\>A | G11778A\-F30 | USA | LHON | ND | ND | 1994 | [2039048](https://pubmed.ncbi.nlm.nih.gov/2039048/) | Pedigree No. 19 | | 31 | 11778 | m.11778G\>A | G11778A\-F31 | USA | LHON | ND | ND | 1994 | [2039048](https://pubmed.ncbi.nlm.nih.gov/2039048/) | Pedigree No. 21 | | 32 | 11778 | m.11778G\>A | G11778A\-F32 | USA | LHON | ND | ND | 1994 | [2039048](https://pubmed.ncbi.nlm.nih.gov/2039048/) | Pedigree No. 25 | | 33 | 11778 | m.11778G\>A | [G11778A\-F33](https://mitofam.com/doc/1904/) | USA | LHON | ND | ND | 1994 | [2039048](https://pubmed.ncbi.nlm.nih.gov/2039048/) | Pedigree No. 26 | | 34 | 11778 | m.11778G\>A |[ G11778A\-F34 ](https://mitofam.com/doc/1905/)| USA | LHON | ND | ND | 1994 | [2039048](https://pubmed.ncbi.nlm.nih.gov/2039048/) | Pedigree No. 30 | | 35 | 11778 | m.11778G\>A | G11778A\-F35 | USA | LHON | ND | ND | 1994 | [2039048](https://pubmed.ncbi.nlm.nih.gov/2039048/) | Pedigree No. 31 | | 36 | 11778 | m.11778G\>A | G11778A\-F36 | USA | LHON | ND | ND | 1994 | [2039048](https://pubmed.ncbi.nlm.nih.gov/2039048/) | Pedigree No. 35 | | 37 | 11778 | m.11778G\>A | [G11778A\-F37](https://mitofam.com/doc/1906/) | USA | LHON | ND | ND | 1994 | [2039048](https://pubmed.ncbi.nlm.nih.gov/2039048/) | Pedigree No. 36 | | 38 | 11778 | m.11778G\>A | G11778A\-F38 | USA | LHON | ND | ND | 1994 | [2039048](https://pubmed.ncbi.nlm.nih.gov/2039048/) | Pedigree No. 37 | | 39 | 11778 | m.11778G\>A | G11778A\-F39 | USA | LHON | ND | ND | 1994 | [2039048](https://pubmed.ncbi.nlm.nih.gov/2039048/) | Pedigree No. 38 | | 40 | 11778 | m.11778G\>A | G11778A\-F40 | USA | LHON | ND | ND | 1994 | [2039048](https://pubmed.ncbi.nlm.nih.gov/2039048/) | Pedigree No. 39 | | 41 | 11778 | m.11778G\>A | [G11778A\-F41](https://mitofam.com/doc/1907/) | USA | LHON | ND | ND | 1994 | [2039048](https://pubmed.ncbi.nlm.nih.gov/2039048/) | Pedigree No. 40 | | 42 | 11778 | m.11778G\>A | [G11778A\-F42](https://mitofam.com/doc/1908) | USA | LHON | ND | ND | 1994 | [2039048](https://pubmed.ncbi.nlm.nih.gov/2039048/) | Pedigree No. 44 | | 43 | 11778 | m.11778G\>A | G11778A\-F43 | USA | LHON | ND | ND | 1994 | [2039048](https://pubmed.ncbi.nlm.nih.gov/2039048/) | Pedigree No. 47 | | 44 | 11778 | m.11778G\>A | [G11778A\-F44](https://mitofam.com/doc/1909/) | USA | LHON | ND | ND | 1994 | [2039048](https://pubmed.ncbi.nlm.nih.gov/2039048/) | Pedigree No. 49 | | 45 | 11778 | m.11778G\>A | G11778A\-F45 | USA | LHON | ND | ND | 1994 | [2039048](https://pubmed.ncbi.nlm.nih.gov/2039048/) | Pedigree No. 55 | | 46 | 11778 | m.11778G\>A | [G11778A\-F46](https://mitofam.com/doc/1910/) | USA | LHON | ND | ND | 1994 | [2039048](https://pubmed.ncbi.nlm.nih.gov/2039048/) | Pedigree No. 58 | | 47 | 11778 | m.11778G\>A | G11778A\-F47 | USA | LHON | ND | ND | 1994 | [2039048](https://pubmed.ncbi.nlm.nih.gov/2039048/) | Pedigree No. 60 | | 48 | 11778 | m.11778G\>A | G11778A\-F48 | USA | LHON | ND | ND | 1994 | [2039048](https://pubmed.ncbi.nlm.nih.gov/2039048/) | Pedigree No. 64 | | 49 | 11778 | m.11778G\>A | G11778A\-F49 | USA | LHON | ND | ND | 1994 | [2039048](https://pubmed.ncbi.nlm.nih.gov/2039048/) | Pedigree No. 65 | | 50 | 11778 | m.11778G\>A | G11778A\-F50 | USA | LHON | ND | ND | 1994 | [2039048](https://pubmed.ncbi.nlm.nih.gov/2039048/) | Pedigree No. 67 | | 51 | 11778 | m.11778G\>A |[ G11778A\-F51](https://mitofam.com/doc/1912/) | USA | LHON | ND | ND | 1994 | [2039048](https://pubmed.ncbi.nlm.nih.gov/2039048/) | Pedigree No. 70 | | 52 | 11778 | m.11778G\>A | G11778A\-F52 | USA | LHON | ND | ND | 1994 | [2039048](https://pubmed.ncbi.nlm.nih.gov/2039048/) | Pedigree No. 71 | | 53 | 11778 | m.11778G\>A | G11778A\-F53 | USA | LHON | ND | ND | 1994 | [2039048](https://pubmed.ncbi.nlm.nih.gov/2039048/) | Pedigree No. 72 | | 54 | 11778 | m.11778G\>A | G11778A\-F54 | USA | LHON | ND | ND | 1994 | [2039048](https://pubmed.ncbi.nlm.nih.gov/2039048/) | Pedigree No. 73 | | 55 | 11778 | m.11778G\>A | [G11778A\-F55](https://mitofam.com/doc/1913/) | USA | LHON | ND | ND | 1994 | [2039048](https://pubmed.ncbi.nlm.nih.gov/2039048/) | Pedigree No. 74 | | 56 | 11778 | m.11778G\>A | [G11778A\-F56](https://mitofam.com/doc/1914) | USA | LHON | ND | ND | 1994 | [2039048](https://pubmed.ncbi.nlm.nih.gov/2039048/) | Pedigree No. 75 | | 57 | 11778 | m.11778G\>A | G11778A\-F57 | USA | LHON | ND | ND | 1994 | [2039048](https://pubmed.ncbi.nlm.nih.gov/2039048/) | Pedigree No. 76 | | 58 | 11778 | m.11778G\>A | G11778A\-F58 | USA | LHON | ND | ND | 1994 | [2039048](https://pubmed.ncbi.nlm.nih.gov/2039048/) | Pedigree No. 77 | | 59 | 11778 | m.11778G\>A | G11778A\-F59 | USA | LHON | ND | ND | 1994 | [2039048](https://pubmed.ncbi.nlm.nih.gov/2039048/) | Pedigree No. 78 | | 60 | 11778 | m.11778G\>A | G11778A\-F60 | USA | Leber hereditary optic neuropathy | 0 | 1 | 1990 | [2346190](https://pubmed.ncbi.nlm.nih.gov/2346190/) | | | 61 | 11778 | m.11778G\>A | [G11778A\-F61](https://mitofam.com/doc/1915) | USA | Leber hereditary optic neuropathy | 4 | 1 | 1990 | [2346190](https://pubmed.ncbi.nlm.nih.gov/2346190/) | | | 62 | 11778 | m.11778G\>A | G11778A\-F62 | USA | Leber hereditary optic neuropathy | 0 | 1 | 1990 | [2346190](https://pubmed.ncbi.nlm.nih.gov/2346190/) | | | 63 | 11778 | m.11778G\>A | [G11778A\-F63](https://mitofam.com/doc/1916) | USA | Leber hereditary optic neuropathy | 2 | 1 | 1990 | [2346190](https://pubmed.ncbi.nlm.nih.gov/2346190/) | | | 64 | 11778 | m.11778G\>A | G11778A\-F64 | USA | Leber hereditary optic neuropathy | 0 | 1 | 1990 | [2346190](https://pubmed.ncbi.nlm.nih.gov/2346190/) | | | 65 | 11778 | m.11778G\>A | G11778A\-F65 | USA | Leber hereditary optic neuropathy | 0 | 1 | 1990 | [2346190](https://pubmed.ncbi.nlm.nih.gov/2346190/) | | | 66 | 11778 | m.11778G\>A | G11778A\-F66 | USA | Leber hereditary optic neuropathy | 0 | 1 | 1990 | [2346190](https://pubmed.ncbi.nlm.nih.gov/2346190/) | | | 67 | 11778 | m.11778G\>A | G11778A\-F67 | USA | Leber hereditary optic neuropathy | 0 | 1 | 1990 | [2346190](https://pubmed.ncbi.nlm.nih.gov/2346190/) | | | 68 | 11778 | m.11778G\>A |[ G11778A\-F68](https://mitofam.com/doc/1917) | Netherlands | LHON | ND | ND | 1990 | [2390098](https://pubmed.ncbi.nlm.nih.gov/2390098/) | | | 69 | 11778 | m.11778G\>A | [G11778A\-F69](https://mitofam.com/doc/1918) | Japan | LHON | ND | ND | 1989 | [2566021](https://pubmed.ncbi.nlm.nih.gov/2566021/) | | | 70 | 11778 | m.11778G\>A | [G11778A\-F70](https://mitofam.com/doc/1919) | USA | LHON | ND | ND | 1989 | [2566116](https://pubmed.ncbi.nlm.nih.gov/2566116/) | | | 71 | 11778 | m.11778G\>A | G11778A\-F71 | Europe | LHON | ND | ND | 1989 | [2566116](https://pubmed.ncbi.nlm.nih.gov/2566116/) | Paper family 1 | | 72 | 11778 | m.11778G\>A | G11778A\-F72 | Europe | LHON | ND | ND | 1989 | [2566116](https://pubmed.ncbi.nlm.nih.gov/2566116/) | Paper family 2 | | 73 | 11778 | m.11778G\>A | [G11778A\-F73](https://mitofam.com/doc/1920) | UK | LHON | ND | ND | 1995 | [2575667](https://pubmed.ncbi.nlm.nih.gov/2575667/) | Paper family A | | 74 | 11778 | m.11778G\>A | G11778A\-F74 | UK | LHON | ND | ND | 1995 | [2575667](https://pubmed.ncbi.nlm.nih.gov/2575667/) | Paper family B | | 75 | 11778 | m.11778G\>A | G11778A\-F75 | UK | LHON | ND | ND | 1995 | [2575667](https://pubmed.ncbi.nlm.nih.gov/2575667/) | Paper family C | | 76 | 11778 | m.11778G\>A | [G11778A\-F76](https://mitofam.com/doc/1921/) | UK | LHON | 8 | 1 | 1995 | [2575667](https://pubmed.ncbi.nlm.nih.gov/2575667/) | Paper family E | | 77 | 11778 | m.11778G\>A | [G11778A\-F77](https://mitofam.com/doc/1922/) | Finland | LHON | 1 | 0 | 1989 | [2757028](https://pubmed.ncbi.nlm.nih.gov/2757028/) | | | 78 | 11778 | m.11778G\>A | [G11778A\-F78](https://mitofam.com/doc/1928) | Japan | LHON | ND | ND | 1989 | [2817063](https://pubmed.ncbi.nlm.nih.gov/2817063/) | | | 79 | 11778 | m.11778G\>A | G11778A\-F79 | Finland | LHON | ND | ND | 1988 | [3201231](https://pubmed.ncbi.nlm.nih.gov/3201231/) | | | 80 | 11778 | m.11778G\>A | G11778A\-F80 | Finland | LHON | ND | ND | 1988 | [3201231](https://pubmed.ncbi.nlm.nih.gov/3201231/) | | | 81 | 11778 | m.11778G\>A | G11778A\-F81 | Finland | LHON | ND | ND | 1988 | [3201231](https://pubmed.ncbi.nlm.nih.gov/3201231/) | | | 82 | 11778 | m.11778G\>A | [G11778A\-F82 ](https://mitofam.com/doc/1954)| USA | LHON | ND | ND | 1988 | [3201231](https://pubmed.ncbi.nlm.nih.gov/3201231/) | | | 83 | 11778 | m.11778G\>A | G11778A\-F83 | USA | LHON | ND | ND | 1988 | [3201231](https://pubmed.ncbi.nlm.nih.gov/3201231/) | | | 84 | 11778 | m.11778G\>A | [G11778A\-F84](https://mitofam.com/doc/1957) | United Kingdom | LHON | ND | ND | 1995 | [7611298](https://pubmed.ncbi.nlm.nih.gov/7611298/) | Paper family 15 | | 85 | 11778 | m.11778G\>A | [G11778A\-F85 ](https://mitofam.com/doc/1958)| United Kingdom | LHON | ND | ND | 1995 | [7611298](https://pubmed.ncbi.nlm.nih.gov/7611298/) | Paper family 16 | | 86 | 11778 | m.11778G\>A | [G11778A\-F86](https://mitofam.com/doc/1959) | United Kingdom | LHON | ND | ND | 1995 | [7611298](https://pubmed.ncbi.nlm.nih.gov/7611298/) | Paper family 17 | | 87 | 11778 | m.11778G\>A | [G11778A\-F87](https://mitofam.com/doc/1961) | United Kingdom | LHON | ND | ND | 1995 | [7611298](https://pubmed.ncbi.nlm.nih.gov/7611298/) | Paper family 18 | | 88 | 11778 | m.11778G\>A | [G11778A\-F88](https://mitofam.com/doc/1964) | Italy | LHON | ND | ND | 1995 | [7617199](https://pubmed.ncbi.nlm.nih.gov/7617199/) | | | 89 | 11778 | m.11778G\>A | G11778A\-F89 | Finland | LHON; MS\-like disease | ND | ND | 1995 | [7629530](https://pubmed.ncbi.nlm.nih.gov/7629530/) | | | 90 | 11778 | m.11778G\>A | [G11778A\-F90](https://mitofam.com/doc/1966/) | Denmark | LHON; MS\-like disorder | ND | ND | 1995 | [7639060](https://pubmed.ncbi.nlm.nih.gov/7639060/) | Pedigree: LHON\-Family K | | 91 | 11778 | m.11778G\>A | [G11778A\-F91](https://mitofam.com/doc/1968) | Canada | LHON | ND | ND | 1995 | [7649539](https://pubmed.ncbi.nlm.nih.gov/7649539/) | | | 92 | 11778 | m.11778G\>A |[ G11778A\-F92](https://mitofam.com/doc/1970) | Japan | LHON; cerebellar ataxia and cerebellar atrophy | ND | ND | 1995 | [7707093](https://pubmed.ncbi.nlm.nih.gov/7707093/) | | | 93 | 11778 | m.11778G\>A | [G11778A\-F93](https://mitofam.com/doc/1971) | USA | LHON | 2 | 1 | 1994 | [7801223](https://pubmed.ncbi.nlm.nih.gov/7801223/) | | | 94 | 11778 | m.11778G\>A | G11778A\-F94 | Italy | LHON | ND | ND | 1994 | [7814218](https://pubmed.ncbi.nlm.nih.gov/7814218/) | Coexisting variants: A15257, C4216, A13708 | | 95 | 11778 | m.11778G\>A | G11778A\-F95 | United Kingdom | LHON | ND | ND | 1995 | [7823072](https://pubmed.ncbi.nlm.nih.gov/7823072/) | | | 96 | 11778 | m.11778G\>A | G11778A\-F96 | United Kingdom | LHON | ND | ND | 1995 | [7823072](https://pubmed.ncbi.nlm.nih.gov/7823072/) | | | 97 | 11778 | m.11778G\>A | G11778A\-F97 | United Kingdom | LHON | ND | ND | 1995 | [7823072](https://pubmed.ncbi.nlm.nih.gov/7823072/) | | | 98 | 11778 | m.11778G\>A | G11778A\-F98 | Japan | LHON | ND | ND | 1993 | [7832241](https://pubmed.ncbi.nlm.nih.gov/7832241/) | | | 99 | 11778 | m.11778G\>A | G11778A\-F99 | Japan | LHON | ND | ND | 1993 | [7832241](https://pubmed.ncbi.nlm.nih.gov/7832241/) | | | 100 | 11778 | m.11778G\>A | [G11778A\-F100](https://mitofam.com/doc/1974) | Germany | LHON | ND | ND | 1994 | [7977345](https://pubmed.ncbi.nlm.nih.gov/7977345/) | Paper family 3 | | 101 | 11778 | m.11778G\>A | [G11778A\-F101](https://mitofam.com/doc/1975) | USA | LHON | ND | ND | 1994 | [8023847](https://pubmed.ncbi.nlm.nih.gov/8023847/) | | | 102 | 11778 | m.11778G\>A | G11778A\-F102 | Australia | LHON | ND | ND | 1994 | [8023848](https://pubmed.ncbi.nlm.nih.gov/8023848/) | | | 103 | 11778 | m.11778G\>A | G11778A\-F103 | Australia | LHON | ND | ND | 1994 | [8023848](https://pubmed.ncbi.nlm.nih.gov/8023848/) | | | 104 | 11778 | m.11778G\>A | G11778A\-F104 | United Kingdom | LHON/MS\-like illness | ND | ND | 1994 | [8024249](https://pubmed.ncbi.nlm.nih.gov/8024249/) | | | 105 | 11778 | m.11778G\>A | [G11778A\-F105](https://mitofam.com/doc/1976) | Cuba | Leber hereditary optic neuropathy | ND | ND | 1994 | [8053461](https://pubmed.ncbi.nlm.nih.gov/8053461/) | | | 106 | 11778 | m.11778G\>A | [G11778A\-F106 ](https://mitofam.com/doc/1977)| UK | LHON; Wolfram\-like syndrome | ND | ND | 1993 | [8071960](https://pubmed.ncbi.nlm.nih.gov/8071960/) | | | 107 | 11778 | m.11778G\>A | [G11778A\-F107](https://mitofam.com/doc/1978) | Finland | LHON | ND | ND | 1994 | [8118464](https://pubmed.ncbi.nlm.nih.gov/8118464/) | | | 108 | 11778 | m.11778G\>A | G11778A\-F108 | United States | LHON | ND | ND | 1993 | [8240101](https://pubmed.ncbi.nlm.nih.gov/8240101/) | | | 109 | 11778 | m.11778G\>A | [G11778A\-F109](https://mitofam.com/doc/1979) | USA | LHON | ND | ND | 1993 | [8240103](https://pubmed.ncbi.nlm.nih.gov/8240103/) | | | 110 | 11778 | m.11778G\>A | G11778A\-F110 | Japan | LHON | ND | ND | 1993 | [8250088](https://pubmed.ncbi.nlm.nih.gov/8250088/) | | | 111 | 11778 | m.11778G\>A | G11778A\-F111 | Japan | LHON | ND | ND | 1993 | [8250088](https://pubmed.ncbi.nlm.nih.gov/8250088/) | | | 112 | 11778 | m.11778G\>A | G11778A\-F112 | United States | LHON/demyelinating disease | ND | ND | 1993 | [8255489](https://pubmed.ncbi.nlm.nih.gov/8255489/) | | | 113 | 11778 | m.11778G\>A | G11778A\-F113 | United States | LHON/demyelinating disease | ND | ND | 1993 | [8255489](https://pubmed.ncbi.nlm.nih.gov/8255489/) | | | 114 | 11778 | m.11778G\>A |[ G11778A\-F114](https://mitofam.com/doc/1980) | United States | LHON/demyelinating disease | ND | ND | 1993 | [8255489](https://pubmed.ncbi.nlm.nih.gov/8255489/) | | | 115 | 11778 | m.11778G\>A | [G11778A\-F115](https://mitofam.com/doc/1981) | United States | LHON/demyelinating disease | ND | ND | 1993 | [8255489](https://pubmed.ncbi.nlm.nih.gov/8255489/) | | | 116 | 11778 | m.11778G\>A |[ G11778A\-F116](https://mitofam.com/doc/1982) | Finland | Leber hereditary optic neuroretinopathy | ND | ND | 1994 | [8270249](https://pubmed.ncbi.nlm.nih.gov/8270249/) | Paper family 1 | | 117 | 11778 | m.11778G\>A | [G11778A\-F117](https://mitofam.com/doc/1983) | Finland | Leber hereditary optic neuroretinopathy | ND | ND | 1994 | [8270249](https://pubmed.ncbi.nlm.nih.gov/8270249/) | Paper family 2 | | 118 | 11778 | m.11778G\>A | [G11778A\-F118 ](https://mitofam.com/doc/1984)| Finland | Leber hereditary optic neuroretinopathy | ND | ND | 1994 | [8270249](https://pubmed.ncbi.nlm.nih.gov/8270249/) | Paper family 3 | | 119 | 11778 | m.11778G\>A | [G11778A\-F119](https://mitofam.com/doc/1985) | Sweden | LHON | ND | ND | 1993 | [8448903](https://pubmed.ncbi.nlm.nih.gov/8448903/) | Paper family 1 | | 120 | 11778 | m.11778G\>A | [G11778A\-F120](https://mitofam.com/doc/1986) | Sweden | LHON | ND | ND | 1993 | [8448903](https://pubmed.ncbi.nlm.nih.gov/8448903/) | Paper family 2 | | 121 | 11778 | m.11778G\>A | G11778A\-F121 | Sweden | LHON | ND | ND | 1993 | [8448903](https://pubmed.ncbi.nlm.nih.gov/8448903/) | Paper family 3 | | 122 | 11778 | m.11778G\>A | [G11778A\-F122](https://mitofam.com/doc/1988) | Sweden | LHON | ND | ND | 1993 | [8448903](https://pubmed.ncbi.nlm.nih.gov/8448903/) | Paper family 4 | | 123 | 11778 | m.11778G\>A | G11778A\-F123 | Sweden | LHON | ND | ND | 1993 | [8448903](https://pubmed.ncbi.nlm.nih.gov/8448903/) | Paper family 5 | | 124 | 11778 | m.11778G\>A | [G11778A\-F124](https://mitofam.com/doc/1989) | Japan | LHON | ND | ND | 1993 | [8449667](https://pubmed.ncbi.nlm.nih.gov/8449667/) | Paper family A | | 125 | 11778 | m.11778G\>A | [G11778A\-F125 ](https://mitofam.com/doc/1990)| Japan | LHON | ND | ND | 1993 | [8449667](https://pubmed.ncbi.nlm.nih.gov/8449667/) | Paper family B | | 126 | 11778 | m.11778G\>A | [G11778A\-F126 ](https://mitofam.com/doc/1991)| Japan | LHON | ND | ND | 1993 | [8449667](https://pubmed.ncbi.nlm.nih.gov/8449667/) | Paper family C | | 127 | 11778 | m.11778G\>A | [G11778A\-F127 ](https://mitofam.com/doc/1992)| Japan | LHON | ND | ND | 1993 | [8449667](https://pubmed.ncbi.nlm.nih.gov/8449667/) | Paper family D | | 128 | 11778 | m.11778G\>A | [G11778A\-F128](https://mitofam.com/doc/1993) | Japan | LHON | ND | ND | 1993 | [8449667](https://pubmed.ncbi.nlm.nih.gov/8449667/) | Paper family E | | 129 | 11778 | m.11778G\>A | G11778A\-F129 | Japan | LHON | ND | ND | 1993 | [8449667](https://pubmed.ncbi.nlm.nih.gov/8449667/) | Paper family F | | 130 | 11778 | m.11778G\>A | G11778A\-F130 | Japan | LHON | ND | ND | 1993 | [8449667](https://pubmed.ncbi.nlm.nih.gov/8449667/) | Paper family G | | 131 | 11778 | m.11778G\>A |[ G11778A\-F131](https://mitofam.com/doc/1994) | UK | LHON; childhood onset | ND | ND | 1993 | [8474822](https://pubmed.ncbi.nlm.nih.gov/8474822/) | | | 132 | 11778 | m.11778G\>A | G11778A\-F132 | USA | LHON | ND | ND | 1993 | [8489402](https://pubmed.ncbi.nlm.nih.gov/8489402/) | | | 133 | 11778 | m.11778G\>A | G11778A\-F133 | USA | LHON | ND | ND | 1993 | [8489402](https://pubmed.ncbi.nlm.nih.gov/8489402/) | | | 134 | 11778 | m.11778G\>A | G11778A\-F134 | USA | LHON | ND | ND | 1993 | [8489402](https://pubmed.ncbi.nlm.nih.gov/8489402/) | | | 135 | 11778 | m.11778G\>A | G11778A\-F135 | USA | LHON | ND | ND | 1993 | [8489402](https://pubmed.ncbi.nlm.nih.gov/8489402/) | | | 136 | 11778 | m.11778G\>A | G11778A\-F136 | USA | LHON | ND | ND | 1993 | [8489402](https://pubmed.ncbi.nlm.nih.gov/8489402/) | | | 137 | 11778 | m.11778G\>A | G11778A\-F137 | USA | LHON | ND | ND | 1993 | [8489402](https://pubmed.ncbi.nlm.nih.gov/8489402/) | | | 138 | 11778 | m.11778G\>A | G11778A\-F138 | Belgium | LHON; spastic dystonia; hypokinetic parkinsonism | ND | ND | 1995 | [8556281](https://pubmed.ncbi.nlm.nih.gov/8556281/) | | | 139 | 11778 | m.11778G\>A | G11778A\-F139 | USA | LHON | ND | ND | 1996 | [8662757](https://pubmed.ncbi.nlm.nih.gov/8662757/) | | | 140 | 11778 | m.11778G\>A | G11778A\-F140 | USA | LHON | ND | ND | 1996 | [8662757](https://pubmed.ncbi.nlm.nih.gov/8662757/) | | | 141 | 11778 | m.11778G\>A | [G11778A\-F141 ](https://mitofam.com/doc/1995)| Netherlands | LHON; MS\-like disease | ND | ND | 1996 | [8867076](https://pubmed.ncbi.nlm.nih.gov/8867076/) | | | 142 | 11778 | m.11778G\>A | G11778A\-F142 | Italy | LHON; spastic paraparesis; MS\-like white matter lesions | ND | ND | 1997 | [9125387](https://pubmed.ncbi.nlm.nih.gov/9125387/) | | | 143 | 11778 | m.11778G\>A | G11778A\-F143 | Italy | LHON | ND | ND | 1997 | [9150158](https://pubmed.ncbi.nlm.nih.gov/9150158/) | | | 144 | 11778 | m.11778G\>A | G11778A\-F144 | Italy | LHON | ND | ND | 1997 | [9150158](https://pubmed.ncbi.nlm.nih.gov/9150158/) | | | 145 | 11778 | m.11778G\>A | G11778A\-F145 | Italy | LHON | ND | ND | 1997 | [9150158](https://pubmed.ncbi.nlm.nih.gov/9150158/) | | | 146 | 11778 | m.11778G\>A | G11778A\-F146 | Italy | LHON | ND | ND | 1997 | [9150158](https://pubmed.ncbi.nlm.nih.gov/9150158/) | | | 147 | 11778 | m.11778G\>A | G11778A\-F147 | Italy | LHON | ND | ND | 1997 | [9150158](https://pubmed.ncbi.nlm.nih.gov/9150158/) | | | 148 | 11778 | m.11778G\>A | G11778A\-F148 | Italy | LHON | ND | ND | 1997 | [9150158](https://pubmed.ncbi.nlm.nih.gov/9150158/) | | | 149 | 11778 | m.11778G\>A | G11778A\-F149 | Italy | LHON | ND | ND | 1997 | [9150158](https://pubmed.ncbi.nlm.nih.gov/9150158/) | | | 150 | 11778 | m.11778G\>A | G11778A\-F150 | Italy | LHON | ND | ND | 1997 | [9150158](https://pubmed.ncbi.nlm.nih.gov/9150158/) | | | 151 | 11778 | m.11778G\>A | G11778A\-F151 | Italy | LHON | ND | ND | 1997 | [9150158](https://pubmed.ncbi.nlm.nih.gov/9150158/) | | | 152 | 11778 | m.11778G\>A | G11778A\-F152 | Italy | LHON | ND | ND | 1997 | [9150158](https://pubmed.ncbi.nlm.nih.gov/9150158/) | | | 153 | 11778 | m.11778G\>A | G11778A\-F153 | Italy | LHON | ND | ND | 1997 | [9150158](https://pubmed.ncbi.nlm.nih.gov/9150158/) | | | 154 | 11778 | m.11778G\>A | G11778A\-F154 | Italy | LHON | ND | ND | 1997 | [9150158](https://pubmed.ncbi.nlm.nih.gov/9150158/) | | | 155 | 11778 | m.11778G\>A | G11778A\-F155 | Italy | LHON | ND | ND | 1997 | [9150158](https://pubmed.ncbi.nlm.nih.gov/9150158/) | | | 156 | 11778 | m.11778G\>A | G11778A\-F156 | Italy | LHON | ND | ND | 1997 | [9150158](https://pubmed.ncbi.nlm.nih.gov/9150158/) | | | 157 | 11778 | m.11778G\>A | G11778A\-F157 | Italy | LHON | ND | ND | 1997 | [9150158](https://pubmed.ncbi.nlm.nih.gov/9150158/) | | | 158 | 11778 | m.11778G\>A | G11778A\-F158 | Italy | LHON | ND | ND | 1997 | [9150158](https://pubmed.ncbi.nlm.nih.gov/9150158/) | | | 159 | 11778 | m.11778G\>A | G11778A\-F159 | Italy | LHON | ND | ND | 1997 | [9150158](https://pubmed.ncbi.nlm.nih.gov/9150158/) | | | 160 | 11778 | m.11778G\>A | G11778A\-F160 | Italy | LHON | ND | ND | 1997 | [9150158](https://pubmed.ncbi.nlm.nih.gov/9150158/) | | | 161 | 11778 | m.11778G\>A | G11778A\-F161 | Italy | LHON | ND | ND | 1997 | [9150158](https://pubmed.ncbi.nlm.nih.gov/9150158/) | | | 162 | 11778 | m.11778G\>A | G11778A\-F162 | Italy | LHON | ND | ND | 1997 | [9150158](https://pubmed.ncbi.nlm.nih.gov/9150158/) | | | 163 | 11778 | m.11778G\>A | G11778A\-F163 | Italy | LHON | ND | ND | 1997 | [9150158](https://pubmed.ncbi.nlm.nih.gov/9150158/) | | | 164 | 11778 | m.11778G\>A | G11778A\-F164 | Italy | LHON | ND | ND | 1997 | [9150158](https://pubmed.ncbi.nlm.nih.gov/9150158/) | | | 165 | 11778 | m.11778G\>A | G11778A\-F165 | Italy | LHON | ND | ND | 1997 | [9150158](https://pubmed.ncbi.nlm.nih.gov/9150158/) | | | 166 | 11778 | m.11778G\>A | G11778A\-F166 | Italy | LHON | ND | ND | 1997 | [9150158](https://pubmed.ncbi.nlm.nih.gov/9150158/) | | | 167 | 11778 | m.11778G\>A | G11778A\-F167 | Italy | LHON | ND | ND | 1997 | [9150158](https://pubmed.ncbi.nlm.nih.gov/9150158/) | | | 168 | 11778 | m.11778G\>A | G11778A\-F168 | Italy | LHON | ND | ND | 1997 | [9150158](https://pubmed.ncbi.nlm.nih.gov/9150158/) | | | 169 | 11778 | m.11778G\>A | G11778A\-F169 | Italy | LHON | ND | ND | 1997 | [9150158](https://pubmed.ncbi.nlm.nih.gov/9150158/) | | | 170 | 11778 | m.11778G\>A | G11778A\-F170 | Italy | LHON | ND | ND | 1997 | [9150158](https://pubmed.ncbi.nlm.nih.gov/9150158/) | | | 171 | 11778 | m.11778G\>A |[ G11778A\-F171](https://mitofam.com/doc/1996) | Germany | LHON | ND | ND | 1997 | [9175737](https://pubmed.ncbi.nlm.nih.gov/9175737/) | | | 172 | 11778 | m.11778G\>A | G11778A\-F172 | Japan | LHON | ND | ND | 1998 | [9541428](https://pubmed.ncbi.nlm.nih.gov/9541428/) | | | 173 | 11778 | m.11778G\>A | G11778A\-F173 | Japan | LHON | ND | ND | 1998 | [9541428](https://pubmed.ncbi.nlm.nih.gov/9541428/) | | | 174 | 11778 | m.11778G\>A |[ G11778A\-F174](https://mitofam.com/doc/1997) | Japan | Leber hereditary optic neuropathy | ND | ND | 1998 | [9541429](https://pubmed.ncbi.nlm.nih.gov/9541429/) | | | 175 | 11778 | m.11778G\>A | G11778A\-F175 | Japan | Bilateral optic neuropathy / LHON | ND | ND | 1998 | [9541429](https://pubmed.ncbi.nlm.nih.gov/9541429/) | | | 176 | 11778 | m.11778G\>A | G11778A\-F176 | Japan | Bilateral optic neuropathy / LHON | ND | ND | 1998 | [9541429](https://pubmed.ncbi.nlm.nih.gov/9541429/) | | | 177 | 11778 | m.11778G\>A | G11778A\-F177 | Japan | Bilateral optic neuropathy / LHON | ND | ND | 1998 | [9541429](https://pubmed.ncbi.nlm.nih.gov/9541429/) | | | 178 | 11778 | m.11778G\>A | G11778A\-F178 | Japan | Bilateral optic neuropathy / LHON | ND | ND | 1998 | [9541429](https://pubmed.ncbi.nlm.nih.gov/9541429/) | | | 179 | 11778 | m.11778G\>A | G11778A\-F179 | Japan | Bilateral optic neuropathy / LHON | ND | ND | 1998 | [9541429](https://pubmed.ncbi.nlm.nih.gov/9541429/) | | | 180 | 11778 | m.11778G\>A | G11778A\-F180 | Japan | Bilateral optic neuropathy compatible with LHON | ND | ND | 1998 | [9541429](https://pubmed.ncbi.nlm.nih.gov/9541429/) | | | 181 | 11778 | m.11778G\>A | G11778A\-F181 | Japan | Bilateral optic neuropathy compatible with LHON | ND | ND | 1998 | [9541429](https://pubmed.ncbi.nlm.nih.gov/9541429/) | | | 182 | 11778 | m.11778G\>A | G11778A\-F182 | Japan | LHON | ND | ND | 1999 | [10520236](https://pubmed.ncbi.nlm.nih.gov/10520236/) | | | 183 | 11778 | m.11778G\>A | G11778A\-F183 | Japan | LHON | ND | ND | 1999 | [10520236](https://pubmed.ncbi.nlm.nih.gov/10520236/) | | | 184 | 11778 | m.11778G\>A | G11778A\-F184 | Japan | LHON | ND | ND | 1999 | [10520236](https://pubmed.ncbi.nlm.nih.gov/10520236/) | | | 185 | 11778 | m.11778G\>A | G11778A\-F185 | Japan | LHON | ND | ND | 1999 | [10520236](https://pubmed.ncbi.nlm.nih.gov/10520236/) | | | 186 | 11778 | m.11778G\>A | G11778A\-F186 | Japan | LHON | ND | ND | 1999 | [10520236](https://pubmed.ncbi.nlm.nih.gov/10520236/) | | | 187 | 11778 | m.11778G\>A | G11778A\-F187 | Japan | LHON | ND | ND | 1999 | [10520236](https://pubmed.ncbi.nlm.nih.gov/10520236/) | | | 188 | 11778 | m.11778G\>A | G11778A\-F188 | Japan | LHON | ND | ND | 1999 | [10520236](https://pubmed.ncbi.nlm.nih.gov/10520236/) | | | 189 | 11778 | m.11778G\>A | G11778A\-F189 | Japan | LHON | ND | ND | 1999 | [10520236](https://pubmed.ncbi.nlm.nih.gov/10520236/) | | | 190 | 11778 | m.11778G\>A | G11778A\-F190 | Japan | LHON | ND | ND | 1999 | [10520236](https://pubmed.ncbi.nlm.nih.gov/10520236/) | | | 191 | 11778 | m.11778G\>A | G11778A\-F191 | Japan | LHON | ND | ND | 1999 | [10520236](https://pubmed.ncbi.nlm.nih.gov/10520236/) | | | 192 | 11778 | m.11778G\>A | G11778A\-F192 | Japan | LHON | ND | ND | 1999 | [10520236](https://pubmed.ncbi.nlm.nih.gov/10520236/) | | | 193 | 11778 | m.11778G\>A | G11778A\-F193 | Japan | LHON | ND | ND | 1999 | [10520236](https://pubmed.ncbi.nlm.nih.gov/10520236/) | | | 194 | 11778 | m.11778G\>A | G11778A\-F194 | Japan | LHON | ND | ND | 1999 | [10520236](https://pubmed.ncbi.nlm.nih.gov/10520236/) | | | 195 | 11778 | m.11778G\>A | G11778A\-F195 | Japan | LHON | ND | ND | 1999 | [10520236](https://pubmed.ncbi.nlm.nih.gov/10520236/) | | | 196 | 11778 | m.11778G\>A | G11778A\-F196 | Japan | LHON | ND | ND | 1999 | [10520236](https://pubmed.ncbi.nlm.nih.gov/10520236/) | | | 197 | 11778 | m.11778G\>A | G11778A\-F197 | Japan | LHON | ND | ND | 1999 | [10520236](https://pubmed.ncbi.nlm.nih.gov/10520236/) | | | 198 | 11778 | m.11778G\>A | G11778A\-F198 | Italy | LHON | ND | ND | 2000 | [10611124](https://pubmed.ncbi.nlm.nih.gov/10611124/) | | | 199 | 11778 | m.11778G\>A | G11778A\-F199 | Germany | LHON | ND | ND | 1999 | [10636656](https://pubmed.ncbi.nlm.nih.gov/10636656/) | | | 200 | 11778 | m.11778G\>A | G11778A\-F200 | USA | LHON | ND | ND | 2000 | [11162998](https://pubmed.ncbi.nlm.nih.gov/11162998/) | | | 201 | 11778 | m.11778G\>A | G11778A\-F201 | Turkey | LHON | ND | ND | 2001 | [11339587](https://pubmed.ncbi.nlm.nih.gov/11339587/) | | | 202 | 11778 | m.11778G\>A | [G11778A\-F202](https://mitofam.com/doc/1998) | USA | LHON | ND | ND | 2001 | [11754070](https://pubmed.ncbi.nlm.nih.gov/11754070/) | Coexisting variant: T14484C | | 203 | 11778 | m.11778G\>A | G11778A\-F203 | Thailand | LHON | ND | ND | 2001 | [11754915](https://pubmed.ncbi.nlm.nih.gov/11754915/) | Paper family A | | 204 | 11778 | m.11778G\>A | G11778A\-F204 | Thailand | LHON | ND | ND | 2001 | [11754915](https://pubmed.ncbi.nlm.nih.gov/11754915/) | Paper family B | | 205 | 11778 | m.11778G\>A | G11778A\-F205 | Thailand | LHON | ND | ND | 2001 | [11754915](https://pubmed.ncbi.nlm.nih.gov/11754915/) | Paper family C | | 206 | 11778 | m.11778G\>A |[ G11778A\-F206 ](https://mitofam.com/doc/1999)| Thailand | LHON | ND | ND | 2001 | [11754915](https://pubmed.ncbi.nlm.nih.gov/11754915/) | Paper family D | | 207 | 11778 | m.11778G\>A | G11778A\-F207 | Thailand | LHON | ND | ND | 2001 | [11754915](https://pubmed.ncbi.nlm.nih.gov/11754915/) | Paper family E | | 208 | 11778 | m.11778G\>A | [G11778A\-F208 ](https://mitofam.com/doc/2000)| Thailand | LHON | ND | ND | 2001 | [11754915](https://pubmed.ncbi.nlm.nih.gov/11754915/) | Paper family F | | 209 | 11778 | m.11778G\>A | G11778A\-F209 | Thailand | LHON | ND | ND | 2001 | [11754915](https://pubmed.ncbi.nlm.nih.gov/11754915/) | Paper family G | | 210 | 11778 | m.11778G\>A | G11778A\-F210 | Thailand | LHON | ND | ND | 2001 | [11754915](https://pubmed.ncbi.nlm.nih.gov/11754915/) | Paper family H | | 211 | 11778 | m.11778G\>A | G11778A\-F211 | Thailand | LHON | ND | ND | 2001 | [11754915](https://pubmed.ncbi.nlm.nih.gov/11754915/) | Paper family I | | 212 | 11778 | m.11778G\>A | G11778A\-F212 | Thailand | LHON | ND | ND | 2001 | [11754915](https://pubmed.ncbi.nlm.nih.gov/11754915/) | Paper family J | | 213 | 11778 | m.11778G\>A | G11778A\-F213 | Thailand | LHON | ND | ND | 2001 | [11754915](https://pubmed.ncbi.nlm.nih.gov/11754915/) | Paper family K | | 214 | 11778 | m.11778G\>A | G11778A\-F214 | Thailand | LHON | ND | ND | 2001 | [11754915](https://pubmed.ncbi.nlm.nih.gov/11754915/) | Paper family L | | 215 | 11778 | m.11778G\>A | G11778A\-F215 | Thailand | LHON | ND | ND | 2001 | [11754915](https://pubmed.ncbi.nlm.nih.gov/11754915/) | Paper family M | | 216 | 11778 | m.11778G\>A | [G11778A\-F216](https://mitofam.com/doc/2001) | Thailand | LHON | ND | ND | 2001 | [11754915](https://pubmed.ncbi.nlm.nih.gov/11754915/) | Paper family N | | 217 | 11778 | m.11778G\>A | [G11778A\-F217](https://mitofam.com/doc/2002) | Thailand | LHON | ND | ND | 2001 | [11754915](https://pubmed.ncbi.nlm.nih.gov/11754915/) | Paper family O | | 218 | 11778 | m.11778G\>A | G11778A\-F218 | Thailand | LHON | ND | ND | 2001 | [11754915](https://pubmed.ncbi.nlm.nih.gov/11754915/) | Paper family P | | 219 | 11778 | m.11778G\>A | G11778A\-F219 | Thailand | LHON | ND | ND | 2001 | [11754915](https://pubmed.ncbi.nlm.nih.gov/11754915/) | Paper family Q | | 220 | 11778 | m.11778G\>A | G11778A\-F220 | Thailand | LHON | ND | ND | 2001 | [11754915](https://pubmed.ncbi.nlm.nih.gov/11754915/) | Paper family R | | 221 | 11778 | m.11778G\>A | [G11778A\-F221](https://mitofam.com/doc/2003) | Thailand | LHON | ND | ND | 2001 | [11754915](https://pubmed.ncbi.nlm.nih.gov/11754915/) | Paper family S | | 222 | 11778 | m.11778G\>A | [G11778A\-F222 ](https://mitofam.com/doc/2004)| Taiwan | LHON | ND | ND | 2002 | [11853713](https://pubmed.ncbi.nlm.nih.gov/11853713/) | Paper family A | | 223 | 11778 | m.11778G\>A |[ G11778A\-F223](https://mitofam.com/doc/2005) | Taiwan | LHON | ND | ND | 2002 | [11853713](https://pubmed.ncbi.nlm.nih.gov/11853713/) | Paper family B | | 224 | 11778 | m.11778G\>A | [G11778A\-F224 ](https://mitofam.com/doc/2006)| Taiwan | LHON | ND | ND | 2002 | [11853713](https://pubmed.ncbi.nlm.nih.gov/11853713/) | Paper family C | | 225 | 11778 | m.11778G\>A | [G11778A\-F225 ](https://mitofam.com/doc/2007)| Taiwan | LHON | ND | ND | 2002 | [11853713](https://pubmed.ncbi.nlm.nih.gov/11853713/) | Paper family D | | 226 | 11778 | m.11778G\>A | G11778A\-F226 | Taiwan | LHON | ND | ND | 2002 | [11937918](https://pubmed.ncbi.nlm.nih.gov/11937918/) | | | 227 | 11778 | m.11778G\>A |[ G11778A\-F227](https://mitofam.com/doc/2008) | Finland | LHON | ND | ND | 2002 | [12409182](https://pubmed.ncbi.nlm.nih.gov/12409182/) | | | 228 | 11778 | m.11778G\>A | [G11778A\-F228](https://mitofam.com/doc/2009) | Finland | LHON | ND | ND | 2002 | [12409182](https://pubmed.ncbi.nlm.nih.gov/12409182/) | | | 229 | 11778 | m.11778G\>A | [G11778A\-F229](https://mitofam.com/doc/2010) | Finland | LHON | ND | ND | 2002 | [12409182](https://pubmed.ncbi.nlm.nih.gov/12409182/) | | | 230 | 11778 | m.11778G\>A | G11778A\-F230 | Indonesia | Family study | ND | ND | 2002 | [12436196](https://pubmed.ncbi.nlm.nih.gov/12436196/) | | | 231 | 11778 | m.11778G\>A | G11778A\-F231 | Indonesia | Family study | ND | ND | 2002 | [12436196](https://pubmed.ncbi.nlm.nih.gov/12436196/) | | | 232 | 11778 | m.11778G\>A | G11778A\-F232 | Indonesia | Family study | ND | ND | 2002 | [12436196](https://pubmed.ncbi.nlm.nih.gov/12436196/) | | | 233 | 11778 | m.11778G\>A | G11778A\-F233 | Indonesia | Family study | ND | ND | 2002 | [12436196](https://pubmed.ncbi.nlm.nih.gov/12436196/) | | | 234 | 11778 | m.11778G\>A | G11778A\-F234 | Thailand | Patient\-only group | ND | ND | 2002 | [12436196](https://pubmed.ncbi.nlm.nih.gov/12436196/) | | | 235 | 11778 | m.11778G\>A | G11778A\-F235 | Thailand | Patient\-only group | ND | ND | 2002 | [12436196](https://pubmed.ncbi.nlm.nih.gov/12436196/) | | | 236 | 11778 | m.11778G\>A | G11778A\-F236 | Thailand | Patient\-only group | ND | ND | 2002 | [12436196](https://pubmed.ncbi.nlm.nih.gov/12436196/) | | | 237 | 11778 | m.11778G\>A | G11778A\-F237 | Thailand | Patient\-only group | ND | ND | 2002 | [12436196](https://pubmed.ncbi.nlm.nih.gov/12436196/) | | | 238 | 11778 | m.11778G\>A | G11778A\-F238 | Thailand | Patient\-only group | ND | ND | 2002 | [12436196](https://pubmed.ncbi.nlm.nih.gov/12436196/) | | | 239 | 11778 | m.11778G\>A | G11778A\-F239 | Thailand | Patient\-only group | ND | ND | 2002 | [12436196](https://pubmed.ncbi.nlm.nih.gov/12436196/) | | | 240 | 11778 | m.11778G\>A | G11778A\-F240 | Thailand | Patient\-only group | ND | ND | 2002 | [12436196](https://pubmed.ncbi.nlm.nih.gov/12436196/) | | | 241 | 11778 | m.11778G\>A | G11778A\-F241 | Thailand | Patient\-only group | ND | ND | 2002 | [12436196](https://pubmed.ncbi.nlm.nih.gov/12436196/) | | | 242 | 11778 | m.11778G\>A | G11778A\-F242 | Thailand | Patient\-only group | ND | ND | 2002 | [12436196](https://pubmed.ncbi.nlm.nih.gov/12436196/) | | | 243 | 11778 | m.11778G\>A | G11778A\-F243 | Thailand | Patient\-only group | ND | ND | 2002 | [12436196](https://pubmed.ncbi.nlm.nih.gov/12436196/) | | | 244 | 11778 | m.11778G\>A | G11778A\-F244 | Indonesia | Patient\-only group | ND | ND | 2002 | [12436196](https://pubmed.ncbi.nlm.nih.gov/12436196/) | | | 245 | 11778 | m.11778G\>A | G11778A\-F245 | Indonesia | Patient\-only group | ND | ND | 2002 | [12436196](https://pubmed.ncbi.nlm.nih.gov/12436196/) | | | 246 | 11778 | m.11778G\>A | G11778A\-F246 | Indonesia | Patient\-only group | ND | ND | 2002 | [12436196](https://pubmed.ncbi.nlm.nih.gov/12436196/) | | | 247 | 11778 | m.11778G\>A | G11778A\-F247 | Indonesia | Patient\-only group | ND | ND | 2002 | [12436196](https://pubmed.ncbi.nlm.nih.gov/12436196/) | | | 248 | 11778 | m.11778G\>A | [G11778A\-F248 ](https://mitofam.com/doc/2011)| USA | LHON | ND | ND | 2002 | [12464729](https://pubmed.ncbi.nlm.nih.gov/12464729/) | | | 249 | 11778 | m.11778G\>A | [G11778A\-F249](https://mitofam.com/doc/2012) | Australia | LHON | ND | ND | 2002 | [12464729](https://pubmed.ncbi.nlm.nih.gov/12464729/) | Coexisting variant: T14484C | | 250 | 11778 | m.11778G\>A | G11778A\-F250 | United Kingdom | LHON | ND | ND | 2003 | [12518276](https://pubmed.ncbi.nlm.nih.gov/12518276/) | Paper pedigree 11778; pedigree s | | 251 | 11778 | m.11778G\>A | G11778A\-F251 | United Kingdom | LHON | ND | ND | 2003 | [12518276](https://pubmed.ncbi.nlm.nih.gov/12518276/) | Paper pedigree 11778 | | 252 | 11778 | m.11778G\>A | G11778A\-F252 | United Kingdom | LHON | ND | ND | 2003 | [12518276](https://pubmed.ncbi.nlm.nih.gov/12518276/) | Paper pedigree 11778; pedigree s | | 253 | 11778 | m.11778G\>A | G11778A\-F253 | United Kingdom | LHON | ND | ND | 2003 | [12518276](https://pubmed.ncbi.nlm.nih.gov/12518276/) | Paper pedigree 11778 | | 254 | 11778 | m.11778G\>A | G11778A\-F254 | United Kingdom | LHON | ND | ND | 2003 | [12518276](https://pubmed.ncbi.nlm.nih.gov/12518276/) | Paper pedigree 11778 | | 255 | 11778 | m.11778G\>A | G11778A\-F255 | United Kingdom | LHON | ND | ND | 2003 | [12518276](https://pubmed.ncbi.nlm.nih.gov/12518276/) | Paper pedigree 11778 | | 256 | 11778 | m.11778G\>A | G11778A\-F256 | United Kingdom | LHON | ND | ND | 2003 | [12518276](https://pubmed.ncbi.nlm.nih.gov/12518276/) | Paper pedigree 11778 | | 257 | 11778 | m.11778G\>A | G11778A\-F257 | United Kingdom | LHON | ND | ND | 2003 | [12518276](https://pubmed.ncbi.nlm.nih.gov/12518276/) | Paper pedigree 11778 | | 258 | 11778 | m.11778G\>A | G11778A\-F258 | United Kingdom | LHON | ND | ND | 2003 | [12518276](https://pubmed.ncbi.nlm.nih.gov/12518276/) | Paper pedigree 11778 | | 259 | 11778 | m.11778G\>A | G11778A\-F259 | United Kingdom | LHON | ND | ND | 2003 | [12518276](https://pubmed.ncbi.nlm.nih.gov/12518276/) | Paper pedigree 11778 | | 260 | 11778 | m.11778G\>A | G11778A\-F260 | Japan | LHON; hypertrophic cardiomyopathy | ND | ND | 2003 | [12560876](https://pubmed.ncbi.nlm.nih.gov/12560876/) | | | 261 | 11778 | m.11778G\>A | G11778A\-F261 | United Kingdom | LHON; cardiac evaluation | ND | ND | 2003 | [12807863](https://pubmed.ncbi.nlm.nih.gov/12807863/) | | | 262 | 11778 | m.11778G\>A | G11778A\-F262 | United Kingdom | LHON; cardiac evaluation | ND | ND | 2003 | [12807863](https://pubmed.ncbi.nlm.nih.gov/12807863/) | | | 263 | 11778 | m.11778G\>A | G11778A\-F263 | United Kingdom | LHON; cardiac evaluation | ND | ND | 2003 | [12807863](https://pubmed.ncbi.nlm.nih.gov/12807863/) | | | 264 | 11778 | m.11778G\>A | G11778A\-F264 | United Kingdom | LHON; cardiac evaluation | ND | ND | 2003 | [12807863](https://pubmed.ncbi.nlm.nih.gov/12807863/) | | | 265 | 11778 | m.11778G\>A | G11778A\-F265 | United Kingdom | LHON; cardiac evaluation | ND | ND | 2003 | [12807863](https://pubmed.ncbi.nlm.nih.gov/12807863/) | | | 266 | 11778 | m.11778G\>A | G11778A\-F266 | United Kingdom | LHON; cardiac evaluation | ND | ND | 2003 | [12807863](https://pubmed.ncbi.nlm.nih.gov/12807863/) | | | 267 | 11778 | m.11778G\>A | G11778A\-F267 | United Kingdom | LHON; cardiac evaluation | ND | ND | 2003 | [12807863](https://pubmed.ncbi.nlm.nih.gov/12807863/) | | | 268 | 11778 | m.11778G\>A | G11778A\-F268 | United Kingdom | LHON; cardiac evaluation | ND | ND | 2003 | [12807863](https://pubmed.ncbi.nlm.nih.gov/12807863/) | | | 269 | 11778 | m.11778G\>A | G11778A\-F269 | Japan | LHON | ND | ND | 2003 | [12815198](https://pubmed.ncbi.nlm.nih.gov/12815198/) | | | 270 | 11778 | m.11778G\>A | G11778A\-F270 | Japan | LHON | ND | ND | 2003 | [12815198](https://pubmed.ncbi.nlm.nih.gov/12815198/) | | | 271 | 11778 | m.11778G\>A | G11778A\-F271 | Japan | LHON | ND | ND | 2003 | [12815198](https://pubmed.ncbi.nlm.nih.gov/12815198/) | | | 272 | 11778 | m.11778G\>A | G11778A\-F272 | Japan | LHON | ND | ND | 2003 | [12815198](https://pubmed.ncbi.nlm.nih.gov/12815198/) | | | 273 | 11778 | m.11778G\>A | G11778A\-F273 | Japan | LHON | ND | ND | 2003 | [12815198](https://pubmed.ncbi.nlm.nih.gov/12815198/) | | | 274 | 11778 | m.11778G\>A | G11778A\-F274 | Japan | LHON | ND | ND | 2003 | [12815198](https://pubmed.ncbi.nlm.nih.gov/12815198/) | | | 275 | 11778 | m.11778G\>A | G11778A\-F275 | Japan | LHON | ND | ND | 2003 | [12815198](https://pubmed.ncbi.nlm.nih.gov/12815198/) | | | 276 | 11778 | m.11778G\>A | G11778A\-F276 | Japan | LHON | ND | ND | 2003 | [12815198](https://pubmed.ncbi.nlm.nih.gov/12815198/) | | | 277 | 11778 | m.11778G\>A | G11778A\-F277 | Japan | LHON | ND | ND | 2003 | [12815198](https://pubmed.ncbi.nlm.nih.gov/12815198/) | | | 278 | 11778 | m.11778G\>A | G11778A\-F278 | Japan | LHON | ND | ND | 2003 | [12815198](https://pubmed.ncbi.nlm.nih.gov/12815198/) | | | 279 | 11778 | m.11778G\>A | G11778A\-F279 | Japan | LHON | ND | ND | 2003 | [12815198](https://pubmed.ncbi.nlm.nih.gov/12815198/) | | | 280 | 11778 | m.11778G\>A | G11778A\-F280 | Japan | LHON | ND | ND | 2003 | [12815198](https://pubmed.ncbi.nlm.nih.gov/12815198/) | | | 281 | 11778 | m.11778G\>A | G11778A\-F281 | Japan | LHON | ND | ND | 2003 | [12815198](https://pubmed.ncbi.nlm.nih.gov/12815198/) | | | 282 | 11778 | m.11778G\>A | G11778A\-F282 | Japan | LHON | ND | ND | 2003 | [12815198](https://pubmed.ncbi.nlm.nih.gov/12815198/) | | | 283 | 11778 | m.11778G\>A | G11778A\-F283 | Japan | LHON | ND | ND | 2003 | [12815198](https://pubmed.ncbi.nlm.nih.gov/12815198/) | | | 284 | 11778 | m.11778G\>A | G11778A\-F284 | Japan | LHON | ND | ND | 2003 | [12815198](https://pubmed.ncbi.nlm.nih.gov/12815198/) | | | 285 | 11778 | m.11778G\>A | G11778A\-F285 | Japan | LHON | ND | ND | 2003 | [12815198](https://pubmed.ncbi.nlm.nih.gov/12815198/) | | | 286 | 11778 | m.11778G\>A | G11778A\-F286 | Japan | LHON | ND | ND | 2003 | [12815198](https://pubmed.ncbi.nlm.nih.gov/12815198/) | | | 287 | 11778 | m.11778G\>A | G11778A\-F287 | Japan | LHON | ND | ND | 2003 | [12815198](https://pubmed.ncbi.nlm.nih.gov/12815198/) | | | 288 | 11778 | m.11778G\>A | G11778A\-F288 | Japan | LHON | ND | ND | 2003 | [12815198](https://pubmed.ncbi.nlm.nih.gov/12815198/) | | | 289 | 11778 | m.11778G\>A | G11778A\-F289 | Japan | LHON | ND | ND | 2003 | [12815198](https://pubmed.ncbi.nlm.nih.gov/12815198/) | | | 290 | 11778 | m.11778G\>A | G11778A\-F290 | Japan | LHON | ND | ND | 2003 | [12815198](https://pubmed.ncbi.nlm.nih.gov/12815198/) | | | 291 | 11778 | m.11778G\>A | G11778A\-F291 | Japan | LHON | ND | ND | 2003 | [12815198](https://pubmed.ncbi.nlm.nih.gov/12815198/) | | | 292 | 11778 | m.11778G\>A | G11778A\-F292 | Japan | LHON | ND | ND | 2003 | [12815198](https://pubmed.ncbi.nlm.nih.gov/12815198/) | | | 293 | 11778 | m.11778G\>A | G11778A\-F293 | Japan | LHON | ND | ND | 2003 | [12815198](https://pubmed.ncbi.nlm.nih.gov/12815198/) | | | 294 | 11778 | m.11778G\>A | G11778A\-F294 | Japan | LHON | ND | ND | 2003 | [12815198](https://pubmed.ncbi.nlm.nih.gov/12815198/) | | | 295 | 11778 | m.11778G\>A | G11778A\-F295 | Japan | LHON | ND | ND | 2003 | [12815198](https://pubmed.ncbi.nlm.nih.gov/12815198/) | | | 296 | 11778 | m.11778G\>A | G11778A\-F296 | Japan | LHON | ND | ND | 2003 | [12815198](https://pubmed.ncbi.nlm.nih.gov/12815198/) | | | 297 | 11778 | m.11778G\>A | G11778A\-F297 | Japan | LHON | ND | ND | 2003 | [12815198](https://pubmed.ncbi.nlm.nih.gov/12815198/) | | | 298 | 11778 | m.11778G\>A | G11778A\-F298 | Japan | LHON | ND | ND | 2003 | [12815198](https://pubmed.ncbi.nlm.nih.gov/12815198/) | | | 299 | 11778 | m.11778G\>A | G11778A\-F299 | Japan | LHON | ND | ND | 2003 | [12815198](https://pubmed.ncbi.nlm.nih.gov/12815198/) | | | 300 | 11778 | m.11778G\>A | G11778A\-F300 | Japan | LHON | ND | ND | 2003 | [12815198](https://pubmed.ncbi.nlm.nih.gov/12815198/) | | | 301 | 11778 | m.11778G\>A | G11778A\-F301 | Japan | LHON | ND | ND | 2003 | [12815198](https://pubmed.ncbi.nlm.nih.gov/12815198/) | | | 302 | 11778 | m.11778G\>A | G11778A\-F302 | Japan | LHON | ND | ND | 2003 | [12815198](https://pubmed.ncbi.nlm.nih.gov/12815198/) | | | 303 | 11778 | m.11778G\>A | G11778A\-F303 | Japan | LHON | ND | ND | 2003 | [12815198](https://pubmed.ncbi.nlm.nih.gov/12815198/) | | | 304 | 11778 | m.11778G\>A | G11778A\-F304 | Japan | LHON | ND | ND | 2003 | [12815198](https://pubmed.ncbi.nlm.nih.gov/12815198/) | | | 305 | 11778 | m.11778G\>A | [G11778A\-F305](https://mitofam.com/doc/2013) | Brazil | LHON | ND | 33 | 2003 | [12888043](https://pubmed.ncbi.nlm.nih.gov/12888043/) | | | 306 | 11778 | m.11778G\>A | G11778A\-F306 | Taiwan | Singleton LHON | ND | ND | 2003 | [14620678](https://pubmed.ncbi.nlm.nih.gov/14620678/) | | | 307 | 11778 | m.11778G\>A | G11778A\-F307 | Turkey | LHON | ND | ND | 2001 | [14750573](https://pubmed.ncbi.nlm.nih.gov/14750573/) | | | 308 | 11778 | m.11778G\>A | G11778A\-F308 | United Kingdom | LHON; auditory neuropathy | ND | ND | 2004 | [15026512](https://pubmed.ncbi.nlm.nih.gov/15026512/) | | | 309 | 11778 | m.11778G\>A | G11778A\-F309 | United Kingdom | LHON; auditory neuropathy | ND | ND | 2004 | [15026512](https://pubmed.ncbi.nlm.nih.gov/15026512/) | | | 310 | 11778 | m.11778G\>A | G11778A\-F310 | Italy | LHON | ND | ND | 2004 | [15342361](https://pubmed.ncbi.nlm.nih.gov/15342361/) | | | 311 | 11778 | m.11778G\>A | G11778A\-F311 | Italy | LHON | ND | ND | 2004 | [15342361](https://pubmed.ncbi.nlm.nih.gov/15342361/) | | | 312 | 11778 | m.11778G\>A | [G11778A\-F312](https://mitofam.com/doc/2014) | China | LHON | 32 | 6 | 2005 | [15707996](https://pubmed.ncbi.nlm.nih.gov/15707996/) | | | 313 | 11778 | m.11778G\>A | [G11778A\-F313](https://mitofam.com/doc/2015) | Thailand | LHON; FSHD | ND | ND | 2005 | [15804271](https://pubmed.ncbi.nlm.nih.gov/15804271/) | | | 314 | 11778 | m.11778G\>A | G11778A\-F314 | China | Maternally inherited LHON pedigree | 6 | 2 | 2005 | [15896721](https://pubmed.ncbi.nlm.nih.gov/15896721/) | | | 315 | 11778 | m.11778G\>A | G11778A\-F315 | China | Maternally inherited LHON pedigree | 9 | 4 | 2005 | [15896721](https://pubmed.ncbi.nlm.nih.gov/15896721/) | | | 316 | 11778 | m.11778G\>A | G11778A\-F316 | China | Maternally inherited LHON pedigree | 20 | 10 | 2005 | [15896721](https://pubmed.ncbi.nlm.nih.gov/15896721/) | | | 317 | 11778 | m.11778G\>A |[ G11778A\-F317](https://mitofam.com/doc/2016) | Sweden | Complex I deficiency; encephalomyopathy | ND | ND | 2005 | [16044424](https://pubmed.ncbi.nlm.nih.gov/16044424/) | | | 318 | 11778 | m.11778G\>A | G11778A\-F318 | Russia | LHON | ND | ND | 2005 | [16050984](https://pubmed.ncbi.nlm.nih.gov/16050984/) | | | 319 | 11778 | m.11778G\>A | G11778A\-F319 | Russia | LHON | ND | ND | 2005 | [16050984](https://pubmed.ncbi.nlm.nih.gov/16050984/) | | | 320 | 11778 | m.11778G\>A | G11778A\-F320 | USA | LHON | ND | ND | 2005 | [16083844](https://pubmed.ncbi.nlm.nih.gov/16083844/) | | | 321 | 11778 | m.11778G\>A | G11778A\-F321 | USA | LHON | ND | ND | 2005 | [16083844](https://pubmed.ncbi.nlm.nih.gov/16083844/) | | | 322 | 11778 | m.11778G\>A | G11778A\-F322 | USA | LHON | ND | ND | 2005 | [16083844](https://pubmed.ncbi.nlm.nih.gov/16083844/) | | | 323 | 11778 | m.11778G\>A | G11778A\-F323 | USA | LHON | ND | ND | 2005 | [16083844](https://pubmed.ncbi.nlm.nih.gov/16083844/) | | | 324 | 11778 | m.11778G\>A | G11778A\-F324 | USA | LHON | ND | ND | 2005 | [16083844](https://pubmed.ncbi.nlm.nih.gov/16083844/) | | | 325 | 11778 | m.11778G\>A | G11778A\-F325 | USA | LHON | ND | ND | 2005 | [16083844](https://pubmed.ncbi.nlm.nih.gov/16083844/) | | | 326 | 11778 | m.11778G\>A | G11778A\-F326 | USA | LHON | ND | ND | 2005 | [16083844](https://pubmed.ncbi.nlm.nih.gov/16083844/) | | | 327 | 11778 | m.11778G\>A | G11778A\-F327 | USA | LHON | ND | ND | 2005 | [16083844](https://pubmed.ncbi.nlm.nih.gov/16083844/) | | | 328 | 11778 | m.11778G\>A | [G11778A\-F328](https://mitofam.com/doc/2017) | Central America | LHON | ND | ND | 2004 | [16120371](https://pubmed.ncbi.nlm.nih.gov/16120371/) | | | 329 | 11778 | m.11778G\>A | [G11778A\-F329](https://mitofam.com/doc/2018) | China | LHON | 5 | 7 | 2006 | [16431939](https://pubmed.ncbi.nlm.nih.gov/16431939/) | | | 330 | 11778 | m.11778G\>A | [G11778A\-F330](https://mitofam.com/doc/2019) | Croatia | LHON | 3 | 2 | 2006 | [16617593](https://pubmed.ncbi.nlm.nih.gov/16617593/) | | | 331 | 11778 | m.11778G\>A |[ G11778A\-F331](https://mitofam.com/doc/2020) | Croatia | LHON | 5 | 1 | 2006 | [16617593](https://pubmed.ncbi.nlm.nih.gov/16617593/) | | | 332 | 11778 | m.11778G\>A | [G11778A\-F332](https://mitofam.com/doc/2021) | China | LHON | 4 | 5 | 2006 | [16624503](https://pubmed.ncbi.nlm.nih.gov/16624503/) | | | 333 | 11778 | m.11778G\>A | G11778A\-F333 | Germany | Singleton LHON | ND | ND | 2006 | [16705513](https://pubmed.ncbi.nlm.nih.gov/16705513/) | | | 334 | 11778 | m.11778G\>A | G11778A\-F334 | Saudi Arabia | LHON\-like optic neuropathy | ND | ND | 2006 | [17003408](https://pubmed.ncbi.nlm.nih.gov/17003408/) | | | 335 | 11778 | m.11778G\>A | G11778A\-F335 | Saudi Arabia | LHON\-like optic neuropathy | ND | ND | 2006 | [17003408](https://pubmed.ncbi.nlm.nih.gov/17003408/) | | | 336 | 11778 | m.11778G\>A | G11778A\-F336 | Saudi Arabia | LHON\-like optic neuropathy | ND | ND | 2006 | [17003408](https://pubmed.ncbi.nlm.nih.gov/17003408/) | | | 337 | 11778 | m.11778G\>A | G11778A\-F337 | Saudi Arabia | LHON\-like optic neuropathy | ND | ND | 2006 | [17003408](https://pubmed.ncbi.nlm.nih.gov/17003408/) | | | 338 | 11778 | m.11778G\>A | [G11778A\-F338](https://mitofam.com/doc/2022) | Thailand | LHON | ND | ND | 2006 | [17072496](https://pubmed.ncbi.nlm.nih.gov/17072496/) | | | 339 | 11778 | m.11778G\>A | [G11778A\-F339](https://mitofam.com/doc/2023) | Thailand | LHON | ND | ND | 2006 | [17072496](https://pubmed.ncbi.nlm.nih.gov/17072496/) | | | 340 | 11778 | m.11778G\>A | [G11778A\-F340](https://mitofam.com/doc/2024) | Thailand | LHON | ND | ND | 2006 | [17072496](https://pubmed.ncbi.nlm.nih.gov/17072496/) | | | 341 | 11778 | m.11778G\>A | [G11778A\-F341](https://mitofam.com/doc/2025) | Thailand | LHON | ND | ND | 2006 | [17072496](https://pubmed.ncbi.nlm.nih.gov/17072496/) | | | 342 | 11778 | m.11778G\>A | [G11778A\-F342](https://mitofam.com/doc/2026) | China | LHON | 19 | 9 | 2007 | [17300996](https://pubmed.ncbi.nlm.nih.gov/17300996/) | Coexisting variant: coexisting G11696A | | 343 | 11778 | m.11778G\>A | [G11778A\-F343 ](https://mitofam.com/doc/2027)| Italy | LHON | 3 | 0 | 2007 | [17366829](https://pubmed.ncbi.nlm.nih.gov/17366829/) | | | 344 | 11778 | m.11778G\>A | G11778A\-F344 | Spain | LHON | ND | ND | 2007 | [17573650](https://pubmed.ncbi.nlm.nih.gov/17573650/) | | | 345 | 11778 | m.11778G\>A | G11778A\-F345 | Spain | LHON | ND | ND | 2007 | [17573650](https://pubmed.ncbi.nlm.nih.gov/17573650/) | | | 346 | 11778 | m.11778G\>A | [G11778A\-F346 ](https://mitofam.com/doc/2028)| United Kingdom | Maternal family; heteroplasmic LHON mutation with dystonia phenotype | ND | ND | 2007 | [17724295](https://pubmed.ncbi.nlm.nih.gov/17724295/) | Coexisting variant: m.4716C\>G | | 347 | 11778 | m.11778G\>A | G11778A\-F347 | United Kingdom | LHON | 0 | 0 | 2008 | [18070226](https://pubmed.ncbi.nlm.nih.gov/18070226/) | | | 348 | 11778 | m.11778G\>A | G11778A\-F348 | United Kingdom | LHON | 0 | 0 | 2008 | [18070226](https://pubmed.ncbi.nlm.nih.gov/18070226/) | | | 349 | 11778 | m.11778G\>A | G11778A\-F349 | United Kingdom | LHON | 0 | 0 | 2008 | [18070226](https://pubmed.ncbi.nlm.nih.gov/18070226/) | | | 350 | 11778 | m.11778G\>A | G11778A\-F350 | United Kingdom | LHON | 0 | 0 | 2008 | [18070226](https://pubmed.ncbi.nlm.nih.gov/18070226/) | | | 351 | 11778 | m.11778G\>A | G11778A\-F351 | United Kingdom | LHON | 0 | 0 | 2008 | [18070226](https://pubmed.ncbi.nlm.nih.gov/18070226/) | | | 352 | 11778 | m.11778G\>A | [G11778A\-F352](https://mitofam.com/doc/2029) | Italy | LHON; myoclonus; migraine; psychiatric features | 0 | 9 | 2008 | [18216301](https://pubmed.ncbi.nlm.nih.gov/18216301/) | Paper family 1 | | 353 | 11778 | m.11778G\>A | G11778A\-F353 | United Kingdom | Unaffected population newborn carrier | 0 | 0 | 2008 | [18674747](https://pubmed.ncbi.nlm.nih.gov/18674747/) | | | 354 | 11778 | m.11778G\>A | G11778A\-F354 | United Kingdom | Unaffected population newborn carrier | 0 | 0 | 2008 | [18674747](https://pubmed.ncbi.nlm.nih.gov/18674747/) | | | 355 | 11778 | m.11778G\>A | G11778A\-F355 | United Kingdom | Unaffected population newborn carrier | 0 | 0 | 2008 | [18674747](https://pubmed.ncbi.nlm.nih.gov/18674747/) | | | 356 | 11778 | m.11778G\>A | G11778A\-F356 | Saudi Arabia | LHON\-like optic neuropathy | 0 | 0 | 2008 | [18676632](https://pubmed.ncbi.nlm.nih.gov/18676632/) | | | 357 | 11778 | m.11778G\>A | G11778A\-F357 | China | LHON | 3 | 10 | 2008 | [18775412](https://pubmed.ncbi.nlm.nih.gov/18775412/) | | | 358 | 11778 | m.11778G\>A | [G11778A\-F358](https://mitofam.com/doc/2030) | France | LHON\-MSL | 1 | 0 | 2009 | [18848389](https://pubmed.ncbi.nlm.nih.gov/18848389/) | | | 359 | 11778 | m.11778G\>A | G11778A\-F359 | Sweden | PEO; LHON | 0 | 0 | 2009 | [19015050](https://pubmed.ncbi.nlm.nih.gov/19015050/) | | | 360 | 11778 | m.11778G\>A | G11778A\-F360 | Saudi Arabia | LHON | 0 | 0 | 2010 | [19726426](https://pubmed.ncbi.nlm.nih.gov/19726426/) | | | 361 | 11778 | m.11778G\>A | G11778A\-F361 | Saudi Arabia | LHON | 0 | 0 | 2010 | [19726426](https://pubmed.ncbi.nlm.nih.gov/19726426/) | | | 362 | 11778 | m.11778G\>A | G11778A\-F362 | Saudi Arabia | LHON | 0 | 0 | 2010 | [19726426](https://pubmed.ncbi.nlm.nih.gov/19726426/) | | | 363 | 11778 | m.11778G\>A | G11778A\-F363 | Saudi Arabia | LHON | 0 | 0 | 2010 | [19726426](https://pubmed.ncbi.nlm.nih.gov/19726426/) | | | 364 | 11778 | m.11778G\>A | G11778A\-F364 | Japan | Hearing loss | 3 | 5 | 2010 | [20111055](https://pubmed.ncbi.nlm.nih.gov/20111055/) | | | 365 | 11778 | m.11778G\>A |[ G11778A\-F365](https://mitofam.com/doc/2031) | China | LHON | 4 | 4 | 2010 | [20435583](https://pubmed.ncbi.nlm.nih.gov/20435583/) | | | 366 | 11778 | m.11778G\>A | [G11778A\-F366 ](https://mitofam.com/doc/2032)| China | LHON | 8 | 3 | 2010 | [20435583](https://pubmed.ncbi.nlm.nih.gov/20435583/) | | | 367 | 11778 | m.11778G\>A | G11778A\-F367 | India | LHON | 0 | 0 | 2010 | [20454697](https://pubmed.ncbi.nlm.nih.gov/20454697/) | | | 368 | 11778 | m.11778G\>A | G11778A\-F368 | Italy | LHON; hearing loss; memory dysfunction | 0 | 0 | 2010 | [20632027](https://pubmed.ncbi.nlm.nih.gov/20632027/) | | | 369 | 11778 | m.11778G\>A |[ G11778A\-F369 ](https://mitofam.com/doc/2033)| China | LHON | 6 | 7 | 2010 | [20691156](https://pubmed.ncbi.nlm.nih.gov/20691156/) | | | 370 | 11778 | m.11778G\>A | [G11778A\-F370 ](https://mitofam.com/doc/2034)| China | LHON | 22 | 11 | 2010 | [20691156](https://pubmed.ncbi.nlm.nih.gov/20691156/) | | | 371 | 11778 | m.11778G\>A | [G11778A\-F371 ](https://mitofam.com/doc/2035)| China | LHON | 11 | 3 | 2010 | [20691156](https://pubmed.ncbi.nlm.nih.gov/20691156/) | | | 372 | 11778 | m.11778G\>A | [G11778A\-F372](https://mitofam.com/doc/2036) | China | LHON | 13 | 6 | 2010 | [20691156](https://pubmed.ncbi.nlm.nih.gov/20691156/) | | | 373 | 11778 | m.11778G\>A | G11778A\-F373 | China | LHON | 5 | 2 | 2010 | [20728388](https://pubmed.ncbi.nlm.nih.gov/20728388/) | | | 374 | 11778 | m.11778G\>A | G11778A\-F374 | China | LHON | 5 | 2 | 2010 | [20728388](https://pubmed.ncbi.nlm.nih.gov/20728388/) | | | 375 | 11778 | m.11778G\>A | G11778A\-F375 | China | LHON | 5 | 3 | 2010 | [20728388](https://pubmed.ncbi.nlm.nih.gov/20728388/) | | | 376 | 11778 | m.11778G\>A | G11778A\-F376 | China | LHON | 4 | 4 | 2010 | [20728388](https://pubmed.ncbi.nlm.nih.gov/20728388/) | | | 377 | 11778 | m.11778G\>A | [G11778A\-F377 ](https://mitofam.com/doc/2037)| Netherlands | Ras\-MAPK syndrome with mitochondrial dysfunction; LHON risk | 1 | 0 | 2011 | [21063443](https://pubmed.ncbi.nlm.nih.gov/21063443/) | | | 378 | 11778 | m.11778G\>A | G11778A\-F378 | Germany | LHON; temporal lobe epilepsy | 0 | 0 | 2011 | [21145289](https://pubmed.ncbi.nlm.nih.gov/21145289/) | | | 379 | 11778 | m.11778G\>A | [G11778A\-F379](https://mitofam.com/doc/2038) | Northern European | Leigh\-like syndrome; LHON mutation | 1 | 0 | 2011 | [21414825](https://pubmed.ncbi.nlm.nih.gov/21414825/) | | | 380 | 11778 | m.11778G\>A | G11778A\-F380 | China | LHON | 0 | 0 | 2011 | [22039503](https://pubmed.ncbi.nlm.nih.gov/22039503/) | Coexisting variant: M7b | | 381 | 11778 | m.11778G\>A | G11778A\-F381 | China | LHON | 0 | 0 | 2011 | [22039503](https://pubmed.ncbi.nlm.nih.gov/22039503/) | Coexisting variant: G1c | | 382 | 11778 | m.11778G\>A | G11778A\-F382 | China | LHON | 0 | 0 | 2011 | [22039503](https://pubmed.ncbi.nlm.nih.gov/22039503/) | Coexisting variant: D4g | | 383 | 11778 | m.11778G\>A | G11778A\-F383 | China | LHON | 0 | 0 | 2011 | [22039503](https://pubmed.ncbi.nlm.nih.gov/22039503/) | Coexisting variant: G1c | | 384 | 11778 | m.11778G\>A | G11778A\-F384 | China | LHON | 0 | 0 | 2011 | [22039503](https://pubmed.ncbi.nlm.nih.gov/22039503/) | Coexisting variant: B5a | | 385 | 11778 | m.11778G\>A | G11778A\-F385 | China | LHON | 0 | 0 | 2011 | [22039503](https://pubmed.ncbi.nlm.nih.gov/22039503/) | Coexisting variant: B5a | | 386 | 11778 | m.11778G\>A | G11778A\-F386 | China | LHON | 0 | 0 | 2011 | [22039503](https://pubmed.ncbi.nlm.nih.gov/22039503/) | Coexisting variant: G1c | | 387 | 11778 | m.11778G\>A | G11778A\-F387 | China | LHON | 3 | 4 | 2011 | [22039503](https://pubmed.ncbi.nlm.nih.gov/22039503/) | Coexisting variant: C7a | | 388 | 11778 | m.11778G\>A | G11778A\-F388 | China | LHON | 0 | 4 | 2011 | [22039503](https://pubmed.ncbi.nlm.nih.gov/22039503/) | | | 389 | 11778 | m.11778G\>A | G11778A\-F389 | China | LHON | 10 | 3 | 2011 | [22039503](https://pubmed.ncbi.nlm.nih.gov/22039503/) | | | 390 | 11778 | m.11778G\>A | G11778A\-F390 | China | LHON | 6 | 3 | 2011 | [22039503](https://pubmed.ncbi.nlm.nih.gov/22039503/) | Coexisting variant: M10a | | 391 | 11778 | m.11778G\>A | G11778A\-F391 | China | LHON | 7 | 1 | 2011 | [22039503](https://pubmed.ncbi.nlm.nih.gov/22039503/) | Coexisting variant: G1c | | 392 | 11778 | m.11778G\>A | G11778A\-F392 | China | LHON | 2 | 2 | 2011 | [22039503](https://pubmed.ncbi.nlm.nih.gov/22039503/) | Coexisting variant: G1c | | 393 | 11778 | m.11778G\>A | G11778A\-F393 | China | LHON | 3 | 1 | 2011 | [22039503](https://pubmed.ncbi.nlm.nih.gov/22039503/) | Coexisting variant: D4g | | 394 | 11778 | m.11778G\>A | G11778A\-F394 | Brazil | LHON; alcohol and tobacco optic neuropathy presentation | ND | ND | 2011 | [22194643](https://pubmed.ncbi.nlm.nih.gov/22194643/) | | | 395 | 11778 | m.11778G\>A | G11778A\-F395 | Brazil | LHON; alcohol and tobacco optic neuropathy presentation | 0 | 0 | 2011 | [22194643](https://pubmed.ncbi.nlm.nih.gov/22194643/) | | | 396 | 11778 | m.11778G\>A | G11778A\-F396 | United States | LHON | 0 | 0 | 2012 | [22410442](https://pubmed.ncbi.nlm.nih.gov/22410442/) | | | 397 | 11778 | m.11778G\>A | G11778A\-F397 | United States | LHON | 0 | 0 | 2012 | [22410442](https://pubmed.ncbi.nlm.nih.gov/22410442/) | | | 398 | 11778 | m.11778G\>A | G11778A\-F398 | United States | LHON | 0 | ND | 2012 | [22410442](https://pubmed.ncbi.nlm.nih.gov/22410442/) | | | 399 | 11778 | m.11778G\>A | [G11778A\-F399](https://mitofam.com/doc/2039) | Japan | LHON plus olivocerebellar degeneration | 0 | 2 | 2012 | [23091534](https://pubmed.ncbi.nlm.nih.gov/23091534/) | Coexisting variant: T3394C | | 400 | 11778 | m.11778G\>A | G11778A\-F400 | France | Mitochondrial disease; optic atrophy | 0 | 0 | 2013 | [23847141](https://pubmed.ncbi.nlm.nih.gov/23847141/) | | | 401 | 11778 | m.11778G\>A | G11778A\-F401 | United Kingdom | LHON\-MS | 0 | 0 | 2014 | [25053773](https://pubmed.ncbi.nlm.nih.gov/25053773/) | | | 402 | 11778 | m.11778G\>A | G11778A\-F402 | United Kingdom | LHON\-MS | 0 | 0 | 2014 | [25053773](https://pubmed.ncbi.nlm.nih.gov/25053773/) | | | 403 | 11778 | m.11778G\>A | G11778A\-F403 | United Kingdom | LHON\-MS | 0 | 0 | 2014 | [25053773](https://pubmed.ncbi.nlm.nih.gov/25053773/) | | | 404 | 11778 | m.11778G\>A | G11778A\-F404 | United Kingdom | LHON\-MS | 0 | 0 | 2014 | [25053773](https://pubmed.ncbi.nlm.nih.gov/25053773/) | | | 405 | 11778 | m.11778G\>A | G11778A\-F405 | United Kingdom | LHON\-MS | 0 | 0 | 2014 | [25053773](https://pubmed.ncbi.nlm.nih.gov/25053773/) | | | 406 | 11778 | m.11778G\>A | G11778A\-F406 | United Kingdom | LHON\-MS | 0 | 0 | 2014 | [25053773](https://pubmed.ncbi.nlm.nih.gov/25053773/) | | | 407 | 11778 | m.11778G\>A | G11778A\-F407 | United Kingdom | LHON\-MS | 0 | 0 | 2014 | [25053773](https://pubmed.ncbi.nlm.nih.gov/25053773/) | | | 408 | 11778 | m.11778G\>A | G11778A\-F408 | United Kingdom | LHON\-MS | 0 | 0 | 2014 | [25053773](https://pubmed.ncbi.nlm.nih.gov/25053773/) | | | 409 | 11778 | m.11778G\>A | G11778A\-F409 | United Kingdom | LHON | 0 | 0 | 2014 | [25053773](https://pubmed.ncbi.nlm.nih.gov/25053773/) | | | 410 | 11778 | m.11778G\>A | G11778A\-F410 | United Kingdom | LHON | 0 | 0 | 2014 | [25053773](https://pubmed.ncbi.nlm.nih.gov/25053773/) | | | 411 | 11778 | m.11778G\>A | G11778A\-F411 | United Kingdom | LHON | 0 | 0 | 2014 | [25053773](https://pubmed.ncbi.nlm.nih.gov/25053773/) | | | 412 | 11778 | m.11778G\>A | G11778A\-F412 | United Kingdom | LHON | 0 | 0 | 2014 | [25053773](https://pubmed.ncbi.nlm.nih.gov/25053773/) | | | 413 | 11778 | m.11778G\>A | G11778A\-F413 | United Kingdom | LHON | 0 | 0 | 2014 | [25053773](https://pubmed.ncbi.nlm.nih.gov/25053773/) | | | 414 | 11778 | m.11778G\>A | G11778A\-F414 | United Kingdom | LHON | 0 | 0 | 2014 | [25053773](https://pubmed.ncbi.nlm.nih.gov/25053773/) | | | 415 | 11778 | m.11778G\>A | G11778A\-F415 | United Kingdom | LHON | 0 | 0 | 2014 | [25053773](https://pubmed.ncbi.nlm.nih.gov/25053773/) | | | 416 | 11778 | m.11778G\>A | G11778A\-F416 | Germany | LHON | 0 | 0 | 2014 | [25338955](https://pubmed.ncbi.nlm.nih.gov/25338955/) | | | 417 | 11778 | m.11778G\>A | G11778A\-F417 | Germany | LHON | 0 | 0 | 2014 | [25338955](https://pubmed.ncbi.nlm.nih.gov/25338955/) | | | 418 | 11778 | m.11778G\>A | G11778A\-F418 | Germany | LHON | 0 | 0 | 2014 | [25338955](https://pubmed.ncbi.nlm.nih.gov/25338955/) | | | 419 | 11778 | m.11778G\>A | G11778A\-F419 | Germany | LHON | 0 | 0 | 2014 | [25338955](https://pubmed.ncbi.nlm.nih.gov/25338955/) | | | 420 | 11778 | m.11778G\>A | G11778A\-F420 | Germany | LHON | 0 | 0 | 2014 | [25338955](https://pubmed.ncbi.nlm.nih.gov/25338955/) | | | 421 | 11778 | m.11778G\>A | G11778A\-F421 | Germany | LHON | 0 | 0 | 2014 | [25338955](https://pubmed.ncbi.nlm.nih.gov/25338955/) | | | 422 | 11778 | m.11778G\>A | G11778A\-F422 | Germany | LHON | 0 | 0 | 2014 | [25338955](https://pubmed.ncbi.nlm.nih.gov/25338955/) | | | 423 | 11778 | m.11778G\>A | G11778A\-F423 | Germany | LHON | 0 | 0 | 2014 | [25338955](https://pubmed.ncbi.nlm.nih.gov/25338955/) | | | 424 | 11778 | m.11778G\>A | G11778A\-F424 | Germany | LHON | 0 | 0 | 2014 | [25338955](https://pubmed.ncbi.nlm.nih.gov/25338955/) | | | 425 | 11778 | m.11778G\>A | G11778A\-F425 | Germany | LHON | 0 | 0 | 2014 | [25338955](https://pubmed.ncbi.nlm.nih.gov/25338955/) | | | 426 | 11778 | m.11778G\>A | G11778A\-F426 | Germany | LHON | 0 | 0 | 2014 | [25338955](https://pubmed.ncbi.nlm.nih.gov/25338955/) | | | 427 | 11778 | m.11778G\>A | G11778A\-F427 | Germany | LHON | 0 | 0 | 2014 | [25338955](https://pubmed.ncbi.nlm.nih.gov/25338955/) | | | 428 | 11778 | m.11778G\>A | G11778A\-F428 | Germany | LHON | 0 | 0 | 2014 | [25338955](https://pubmed.ncbi.nlm.nih.gov/25338955/) | | | 429 | 11778 | m.11778G\>A | G11778A\-F429 | Germany | LHON | 0 | 0 | 2014 | [25338955](https://pubmed.ncbi.nlm.nih.gov/25338955/) | | | 430 | 11778 | m.11778G\>A | G11778A\-F430 | Germany | LHON | 0 | 0 | 2014 | [25338955](https://pubmed.ncbi.nlm.nih.gov/25338955/) | | | 431 | 11778 | m.11778G\>A | G11778A\-F431 | Germany | LHON | 0 | 0 | 2014 | [25338955](https://pubmed.ncbi.nlm.nih.gov/25338955/) | | | 432 | 11778 | m.11778G\>A | G11778A\-F432 | USA | LHON | 0 | 0 | 2015 | [26606867](https://pubmed.ncbi.nlm.nih.gov/26606867/) | | | 433 | 11778 | m.11778G\>A | G11778A\-F433 | USA | LHON | 0 | 0 | 2015 | [26606867](https://pubmed.ncbi.nlm.nih.gov/26606867/) | | | 434 | 11778 | m.11778G\>A | G11778A\-F434 | USA | LHON | 0 | 0 | 2015 | [26606867](https://pubmed.ncbi.nlm.nih.gov/26606867/) | | | 435 | 11778 | m.11778G\>A | G11778A\-F435 | USA | LHON | 0 | 0 | 2015 | [26606867](https://pubmed.ncbi.nlm.nih.gov/26606867/) | | | 436 | 11778 | m.11778G\>A | G11778A\-F436 | USA | LHON | 0 | 0 | 2015 | [26606867](https://pubmed.ncbi.nlm.nih.gov/26606867/) | | | 437 | 11778 | m.11778G\>A | [G11778A\-F437](https://mitofam.com/doc/2040) | China | LHON | 2 | 1 | 2016 | [26647310](https://pubmed.ncbi.nlm.nih.gov/26647310/) | | | 438 | 11778 | m.11778G\>A | [G11778A\-F438](https://mitofam.com/doc/2041) | China | LHON | 0 | 3 | 2016 | [26647310](https://pubmed.ncbi.nlm.nih.gov/26647310/) | | | 439 | 11778 | m.11778G\>A | [G11778A\-F439](https://mitofam.com/doc/2042) | China | LHON | 0 | 1 | 2016 | [26647310](https://pubmed.ncbi.nlm.nih.gov/26647310/) | | | 440 | 11778 | m.11778G\>A | [G11778A\-F440](https://mitofam.com/doc/2043) | China | LHON | 0 | 2 | 2016 | [26647310](https://pubmed.ncbi.nlm.nih.gov/26647310/) | | | 441 | 11778 | m.11778G\>A | [G11778A\-F441](https://mitofam.com/doc/2044) | China | LHON | 0 | 5 | 2016 | [26647310](https://pubmed.ncbi.nlm.nih.gov/26647310/) | | | 442 | 11778 | m.11778G\>A | G11778A\-F442 | China | LHON | 0 | 0 | 2016 | [26892229](https://pubmed.ncbi.nlm.nih.gov/26892229/) | | | 443 | 11778 | m.11778G\>A | G11778A\-F443 | China | LHON | 0 | 0 | 2016 | [26892229](https://pubmed.ncbi.nlm.nih.gov/26892229/) | | | 444 | 11778 | m.11778G\>A | G11778A\-F444 | China | LHON | 0 | 0 | 2016 | [26892229](https://pubmed.ncbi.nlm.nih.gov/26892229/) | | | 445 | 11778 | m.11778G\>A | G11778A\-F445 | China | LHON | 0 | 0 | 2016 | [26892229](https://pubmed.ncbi.nlm.nih.gov/26892229/) | | | 446 | 11778 | m.11778G\>A | G11778A\-F446 | China | LHON | 0 | 0 | 2016 | [26892229](https://pubmed.ncbi.nlm.nih.gov/26892229/) | | | 447 | 11778 | m.11778G\>A | G11778A\-F447 | China | LHON | 0 | 0 | 2016 | [26892229](https://pubmed.ncbi.nlm.nih.gov/26892229/) | | | 448 | 11778 | m.11778G\>A | G11778A\-F448 | China | LHON | 0 | 0 | 2016 | [26892229](https://pubmed.ncbi.nlm.nih.gov/26892229/) | | | 449 | 11778 | m.11778G\>A | G11778A\-F449 | China | LHON | 0 | 0 | 2016 | [26892229](https://pubmed.ncbi.nlm.nih.gov/26892229/) | | | 450 | 11778 | m.11778G\>A | G11778A\-F450 | China | LHON | 0 | 0 | 2016 | [26892229](https://pubmed.ncbi.nlm.nih.gov/26892229/) | | | 451 | 11778 | m.11778G\>A | [G11778A\-F451 ](https://mitofam.com/doc/2045)| Germany | Multiple sclerosis; CIS | 1 | 2 | 2016 | [27119776](https://pubmed.ncbi.nlm.nih.gov/27119776/) | | | 452 | 11778 | m.11778G\>A | G11778A\-F452 | China | LHON | 2 | 1 | 2016 | [27159682](https://pubmed.ncbi.nlm.nih.gov/27159682/) | Coexisting variant: coexisting G11696A | | 453 | 11778 | m.11778G\>A | G11778A\-F453 | China | LHON | 7 | 3 | 2016 | [27159682](https://pubmed.ncbi.nlm.nih.gov/27159682/) | Coexisting variant: coexisting G11696A | | 454 | 11778 | m.11778G\>A | G11778A\-F454 | China | LHON | 7 | 3 | 2016 | [27159682](https://pubmed.ncbi.nlm.nih.gov/27159682/) | Coexisting variant: coexisting G11696A | | 455 | 11778 | m.11778G\>A | G11778A\-F455 | China | LHON | 9 | 2 | 2016 | [27159682](https://pubmed.ncbi.nlm.nih.gov/27159682/) | Coexisting variant: coexisting G11696A | | 456 | 11778 | m.11778G\>A | G11778A\-F456 | China | LHON | 7 | 2 | 2016 | [27159682](https://pubmed.ncbi.nlm.nih.gov/27159682/) | Coexisting variant: coexisting G11696A | | 457 | 11778 | m.11778G\>A | G11778A\-F457 | China | LHON | 3 | 8 | 2016 | [27159682](https://pubmed.ncbi.nlm.nih.gov/27159682/) | Coexisting variant: coexisting G11696A | | 458 | 11778 | m.11778G\>A | G11778A\-F458 | China | LHON | 8 | 8 | 2016 | [27159682](https://pubmed.ncbi.nlm.nih.gov/27159682/) | Coexisting variant: coexisting G11696A | | 459 | 11778 | m.11778G\>A | G11778A\-F459 | China | LHON | 5 | 2 | 2016 | [27159682](https://pubmed.ncbi.nlm.nih.gov/27159682/) | Coexisting variant: coexisting G11696A | | 460 | 11778 | m.11778G\>A | G11778A\-F460 | China | LHON | 0 | ND | 2016 | [27177320](https://pubmed.ncbi.nlm.nih.gov/27177320/) | Coexisting variant: m.3319A\>G | | 461 | 11778 | m.11778G\>A | G11778A\-F461 | China | LHON | 0 | ND | 2016 | [27177320](https://pubmed.ncbi.nlm.nih.gov/27177320/) | Coexisting variant: m.3335T\>C | | 462 | 11778 | m.11778G\>A | G11778A\-F462 | China | LHON | 0 | 0 | 2016 | [27177320](https://pubmed.ncbi.nlm.nih.gov/27177320/) | Coexisting variant: m.3356T\>C | | 463 | 11778 | m.11778G\>A | G11778A\-F463 | China | LHON | 0 | ND | 2016 | [27177320](https://pubmed.ncbi.nlm.nih.gov/27177320/) | Coexisting variant: m.3362T\>C | | 464 | 11778 | m.11778G\>A | G11778A\-F464 | China | LHON | 0 | ND | 2016 | [27177320](https://pubmed.ncbi.nlm.nih.gov/27177320/) | Coexisting variant: m.3364C\>A | | 465 | 11778 | m.11778G\>A | G11778A\-F465 | China | LHON | 0 | ND | 2016 | [27177320](https://pubmed.ncbi.nlm.nih.gov/27177320/) | Coexisting variant: m.3364C\>A | | 466 | 11778 | m.11778G\>A | G11778A\-F466 | China | LHON | 0 | ND | 2016 | [27177320](https://pubmed.ncbi.nlm.nih.gov/27177320/) | Coexisting variant: m.3391G\>A | | 467 | 11778 | m.11778G\>A | G11778A\-F467 | China | LHON | 0 | 0 | 2016 | [27177320](https://pubmed.ncbi.nlm.nih.gov/27177320/) | Coexisting variant: m.3416C\>A | | 468 | 11778 | m.11778G\>A | G11778A\-F468 | China | LHON | 0 | ND | 2016 | [27177320](https://pubmed.ncbi.nlm.nih.gov/27177320/) | Coexisting variant: m.3472T\>C | | 469 | 11778 | m.11778G\>A | G11778A\-F469 | China | LHON | 0 | 0 | 2016 | [27177320](https://pubmed.ncbi.nlm.nih.gov/27177320/) | Coexisting variant: m.3548T\>C | | 470 | 11778 | m.11778G\>A | G11778A\-F470 | China | LHON | 0 | ND | 2016 | [27177320](https://pubmed.ncbi.nlm.nih.gov/27177320/) | Coexisting variant: m.3632C\>T | | 471 | 11778 | m.11778G\>A | G11778A\-F471 | China | LHON | 0 | ND | 2016 | [27177320](https://pubmed.ncbi.nlm.nih.gov/27177320/) | Coexisting variant: m.3746T\>C | | 472 | 11778 | m.11778G\>A | G11778A\-F472 | China | LHON | 0 | 0 | 2016 | [27177320](https://pubmed.ncbi.nlm.nih.gov/27177320/) | Coexisting variant: m.4181A\>G | | 473 | 11778 | m.11778G\>A | G11778A\-F473 | China | LHON | 0 | ND | 2016 | [27177320](https://pubmed.ncbi.nlm.nih.gov/27177320/) | Coexisting variant: m.3394T\>C | | 474 | 11778 | m.11778G\>A | G11778A\-F474 | China | LHON | 0 | ND | 2016 | [27177320](https://pubmed.ncbi.nlm.nih.gov/27177320/) | Coexisting variant: m.3394T\>C | | 475 | 11778 | m.11778G\>A | G11778A\-F475 | China | LHON | 0 | 0 | 2016 | [27177320](https://pubmed.ncbi.nlm.nih.gov/27177320/) | Coexisting variant: m.3394T\>C | | 476 | 11778 | m.11778G\>A | G11778A\-F476 | China | LHON | 0 | 0 | 2016 | [27177320](https://pubmed.ncbi.nlm.nih.gov/27177320/) | Coexisting variant: m.3394T\>C | | 477 | 11778 | m.11778G\>A | G11778A\-F477 | China | LHON | 0 | ND | 2016 | [27177320](https://pubmed.ncbi.nlm.nih.gov/27177320/) | Coexisting variant: m.3394T\>C | | 478 | 11778 | m.11778G\>A | G11778A\-F478 | China | LHON | 0 | 0 | 2016 | [27177320](https://pubmed.ncbi.nlm.nih.gov/27177320/) | Coexisting variant: m.3394T\>C | | 479 | 11778 | m.11778G\>A | G11778A\-F479 | China | LHON | 0 | ND | 2016 | [27177320](https://pubmed.ncbi.nlm.nih.gov/27177320/) | Coexisting variant: m.3394T\>C | | 480 | 11778 | m.11778G\>A | G11778A\-F480 | China | LHON | 0 | ND | 2016 | [27177320](https://pubmed.ncbi.nlm.nih.gov/27177320/) | Coexisting variant: m.3394T\>C | | 481 | 11778 | m.11778G\>A | G11778A\-F481 | China | LHON | 0 | ND | 2016 | [27177320](https://pubmed.ncbi.nlm.nih.gov/27177320/) | Coexisting variant: m.3394T\>C | | 482 | 11778 | m.11778G\>A | G11778A\-F482 | China | LHON | 0 | ND | 2016 | [27177320](https://pubmed.ncbi.nlm.nih.gov/27177320/) | Coexisting variant: m.3394T\>C | | 483 | 11778 | m.11778G\>A | G11778A\-F483 | China | LHON | 0 | ND | 2016 | [27177320](https://pubmed.ncbi.nlm.nih.gov/27177320/) | Coexisting variant: m.3394T\>C | | 484 | 11778 | m.11778G\>A | G11778A\-F484 | China | LHON | 0 | 0 | 2016 | [27177320](https://pubmed.ncbi.nlm.nih.gov/27177320/) | Coexisting variant: m.3866T\>C | | 485 | 11778 | m.11778G\>A | G11778A\-F485 | China | LHON | 0 | 0 | 2016 | [27177320](https://pubmed.ncbi.nlm.nih.gov/27177320/) | Coexisting variant: m.3866T\>C | | 486 | 11778 | m.11778G\>A | G11778A\-F486 | China | LHON | 0 | 0 | 2016 | [27177320](https://pubmed.ncbi.nlm.nih.gov/27177320/) | Coexisting variant: m.3866T\>C | | 487 | 11778 | m.11778G\>A | G11778A\-F487 | China | LHON | 0 | 0 | 2016 | [27426279](https://pubmed.ncbi.nlm.nih.gov/27426279/) | | | 488 | 11778 | m.11778G\>A | G11778A\-F488 | China | LHON | 0 | 0 | 2016 | [27426279](https://pubmed.ncbi.nlm.nih.gov/27426279/) | | | 489 | 11778 | m.11778G\>A | G11778A\-F489 | China | LHON | 0 | 0 | 2016 | [27426279](https://pubmed.ncbi.nlm.nih.gov/27426279/) | | | 490 | 11778 | m.11778G\>A | G11778A\-F490 | China | LHON | 0 | 0 | 2016 | [27426279](https://pubmed.ncbi.nlm.nih.gov/27426279/) | | | 491 | 11778 | m.11778G\>A | G11778A\-F491 | China | LHON | 0 | 0 | 2016 | [27426279](https://pubmed.ncbi.nlm.nih.gov/27426279/) | | | 492 | 11778 | m.11778G\>A | G11778A\-F492 | China | LHON | 0 | 0 | 2016 | [27426279](https://pubmed.ncbi.nlm.nih.gov/27426279/) | | | 493 | 11778 | m.11778G\>A | G11778A\-F493 | China | LHON | 0 | 0 | 2016 | [27426279](https://pubmed.ncbi.nlm.nih.gov/27426279/) | | | 494 | 11778 | m.11778G\>A | G11778A\-F494 | China | LHON | 0 | 0 | 2016 | [27426279](https://pubmed.ncbi.nlm.nih.gov/27426279/) | | | 495 | 11778 | m.11778G\>A | G11778A\-F495 | China | LHON | 0 | 0 | 2016 | [27426279](https://pubmed.ncbi.nlm.nih.gov/27426279/) | | | 496 | 11778 | m.11778G\>A | G11778A\-F496 | China | LHON | 9 | 2 | 2016 | [27427386](https://pubmed.ncbi.nlm.nih.gov/27427386/) | | | 497 | 11778 | m.11778G\>A | G11778A\-F497 | China | LHON | 6 | 3 | 2016 | [27427386](https://pubmed.ncbi.nlm.nih.gov/27427386/) | | | 498 | 11778 | m.11778G\>A | [G11778A\-F498 ](https://mitofam.com/doc/2046)| Germany | LHON | 4 | 3 | 2016 | [27721048](https://pubmed.ncbi.nlm.nih.gov/27721048/) | Coexisting variant: T14484C | | 499 | 11778 | m.11778G\>A | G11778A\-F499 | China | LHON | ND | ND | 2016 | [27749593](https://pubmed.ncbi.nlm.nih.gov/27749593/) | | | 500 | 11778 | m.11778G\>A | [G11778A\-F500](https://mitofam.com/doc/2047) | China | LHON | ND | ND | 2016 | [27749593](https://pubmed.ncbi.nlm.nih.gov/27749593/) | | | 501 | 11778 | m.11778G\>A | [G11778A\-F501](https://mitofam.com/doc/2048) | China | LHON | ND | ND | 2016 | [27749593](https://pubmed.ncbi.nlm.nih.gov/27749593/) | | | 502 | 11778 | m.11778G\>A | G11778A\-F502 | China | LHON | ND | ND | 2016 | [27749593](https://pubmed.ncbi.nlm.nih.gov/27749593/) | | | 503 | 11778 | m.11778G\>A | G11778A\-F503 | China | LHON | ND | ND | 2016 | [27749593](https://pubmed.ncbi.nlm.nih.gov/27749593/) | | | 504 | 11778 | m.11778G\>A | G11778A\-F504 | China | LHON | ND | ND | 2016 | [27749593](https://pubmed.ncbi.nlm.nih.gov/27749593/) | | | 505 | 11778 | m.11778G\>A | G11778A\-F505 | China | LHON | ND | ND | 2016 | [27749593](https://pubmed.ncbi.nlm.nih.gov/27749593/) | | | 506 | 11778 | m.11778G\>A | G11778A\-F506 | China | LHON | ND | ND | 2016 | [27749593](https://pubmed.ncbi.nlm.nih.gov/27749593/) | | | 507 | 11778 | m.11778G\>A | G11778A\-F507 | China | LHON | ND | ND | 2016 | [27749593](https://pubmed.ncbi.nlm.nih.gov/27749593/) | | | 508 | 11778 | m.11778G\>A | G11778A\-F508 | China | LHON | ND | ND | 2016 | [27749593](https://pubmed.ncbi.nlm.nih.gov/27749593/) | | | 509 | 11778 | m.11778G\>A | G11778A\-F509 | China | LHON | ND | ND | 2016 | [27749593](https://pubmed.ncbi.nlm.nih.gov/27749593/) | | | 510 | 11778 | m.11778G\>A | G11778A\-F510 | China | LHON | ND | ND | 2016 | [27749593](https://pubmed.ncbi.nlm.nih.gov/27749593/) | | | 511 | 11778 | m.11778G\>A | G11778A\-F511 | China | LHON | ND | ND | 2016 | [27749593](https://pubmed.ncbi.nlm.nih.gov/27749593/) | | | 512 | 11778 | m.11778G\>A | G11778A\-F512 | China | LHON | ND | ND | 2016 | [27749593](https://pubmed.ncbi.nlm.nih.gov/27749593/) | | | 513 | 11778 | m.11778G\>A | G11778A\-F513 | United Kingdom | LHON | 0 | 0 | 2017 | [28093355](https://pubmed.ncbi.nlm.nih.gov/28093355/) | | | 514 | 11778 | m.11778G\>A | G11778A\-F514 | United Kingdom | LHON | 0 | 0 | 2017 | [28093355](https://pubmed.ncbi.nlm.nih.gov/28093355/) | | | 515 | 11778 | m.11778G\>A | G11778A\-F515 | United Kingdom | LHON | 0 | 0 | 2017 | [28093355](https://pubmed.ncbi.nlm.nih.gov/28093355/) | | | 516 | 11778 | m.11778G\>A | G11778A\-F516 | United Kingdom | LHON | 0 | 0 | 2017 | [28093355](https://pubmed.ncbi.nlm.nih.gov/28093355/) | | | 517 | 11778 | m.11778G\>A | G11778A\-F517 | United Kingdom | LHON | ND | ND | 2017 | [28314831](https://pubmed.ncbi.nlm.nih.gov/28314831/) | | | 518 | 11778 | m.11778G\>A | G11778A\-F518 | United Kingdom | LHON | ND | ND | 2017 | [28314831](https://pubmed.ncbi.nlm.nih.gov/28314831/) | | | 519 | 11778 | m.11778G\>A | G11778A\-F519 | United Kingdom | LHON | ND | ND | 2017 | [28314831](https://pubmed.ncbi.nlm.nih.gov/28314831/) | | | 520 | 11778 | m.11778G\>A | G11778A\-F520 | United Kingdom | LHON | ND | ND | 2017 | [28314831](https://pubmed.ncbi.nlm.nih.gov/28314831/) | | | 521 | 11778 | m.11778G\>A | G11778A\-F521 | United Kingdom | LHON | 0 | 0 | 2017 | [28314831](https://pubmed.ncbi.nlm.nih.gov/28314831/) | | | 522 | 11778 | m.11778G\>A | G11778A\-F522 | United Kingdom | LHON | 0 | 0 | 2017 | [28314831](https://pubmed.ncbi.nlm.nih.gov/28314831/) | | | 523 | 11778 | m.11778G\>A | G11778A\-F523 | United Kingdom | LHON | 0 | 0 | 2017 | [28314831](https://pubmed.ncbi.nlm.nih.gov/28314831/) | | | 524 | 11778 | m.11778G\>A | G11778A\-F524 | United Kingdom | LHON | ND | ND | 2017 | [28314831](https://pubmed.ncbi.nlm.nih.gov/28314831/) | | | 525 | 11778 | m.11778G\>A | G11778A\-F525 | United Kingdom | LHON | 0 | 0 | 2017 | [28314831](https://pubmed.ncbi.nlm.nih.gov/28314831/) | | | 526 | 11778 | m.11778G\>A | G11778A\-F526 | United Kingdom | LHON | ND | ND | 2017 | [28314831](https://pubmed.ncbi.nlm.nih.gov/28314831/) | | | 527 | 11778 | m.11778G\>A | G11778A\-F527 | United Kingdom | LHON | 0 | 0 | 2017 | [28314831](https://pubmed.ncbi.nlm.nih.gov/28314831/) | | | 528 | 11778 | m.11778G\>A | G11778A\-F528 | United Kingdom | LHON | ND | ND | 2017 | [28314831](https://pubmed.ncbi.nlm.nih.gov/28314831/) | | | 529 | 11778 | m.11778G\>A | G11778A\-F529 | United Kingdom | LHON | ND | ND | 2017 | [28314831](https://pubmed.ncbi.nlm.nih.gov/28314831/) | | | 530 | 11778 | m.11778G\>A | G11778A\-F530 | USA | LHON | 0 | 0 | 2017 | [28647203](https://pubmed.ncbi.nlm.nih.gov/28647203/) | | | 531 | 11778 | m.11778G\>A | G11778A\-F531 | USA | LHON | 0 | 0 | 2017 | [28647203](https://pubmed.ncbi.nlm.nih.gov/28647203/) | | | 532 | 11778 | m.11778G\>A | G11778A\-F532 | USA | LHON | 0 | 0 | 2017 | [28647203](https://pubmed.ncbi.nlm.nih.gov/28647203/) | | | 533 | 11778 | m.11778G\>A | G11778A\-F533 | USA | LHON | 0 | 0 | 2017 | [28647203](https://pubmed.ncbi.nlm.nih.gov/28647203/) | | | 534 | 11778 | m.11778G\>A | G11778A\-F534 | USA | LHON | 0 | 0 | 2017 | [28647203](https://pubmed.ncbi.nlm.nih.gov/28647203/) | | | 535 | 11778 | m.11778G\>A | G11778A\-F535 | USA | LHON | 0 | 0 | 2017 | [28647203](https://pubmed.ncbi.nlm.nih.gov/28647203/) | | | 536 | 11778 | m.11778G\>A | G11778A\-F536 | USA | LHON | 0 | 0 | 2017 | [28647203](https://pubmed.ncbi.nlm.nih.gov/28647203/) | | | 537 | 11778 | m.11778G\>A | G11778A\-F537 | USA | LHON | 0 | 0 | 2017 | [28647203](https://pubmed.ncbi.nlm.nih.gov/28647203/) | | | 538 | 11778 | m.11778G\>A | G11778A\-F538 | USA | LHON | 0 | 0 | 2017 | [28647203](https://pubmed.ncbi.nlm.nih.gov/28647203/) | | | 539 | 11778 | m.11778G\>A | G11778A\-F539 | USA | LHON | 0 | 0 | 2017 | [28647203](https://pubmed.ncbi.nlm.nih.gov/28647203/) | | | 540 | 11778 | m.11778G\>A | G11778A\-F540 | USA | LHON | 0 | 0 | 2017 | [28647203](https://pubmed.ncbi.nlm.nih.gov/28647203/) | | | 541 | 11778 | m.11778G\>A | G11778A\-F541 | USA | LHON | 0 | 0 | 2017 | [28647203](https://pubmed.ncbi.nlm.nih.gov/28647203/) | | | 542 | 11778 | m.11778G\>A | G11778A\-F542 | USA | LHON | 0 | 0 | 2017 | [28647203](https://pubmed.ncbi.nlm.nih.gov/28647203/) | | | 543 | 11778 | m.11778G\>A | G11778A\-F543 | USA | LHON | 0 | 0 | 2017 | [28647203](https://pubmed.ncbi.nlm.nih.gov/28647203/) | | | 544 | 11778 | m.11778G\>A | [G11778A\-F544](https://mitofam.com/doc/2049) | China | LHON | 1 | 3 | 2017 | [29116953](https://pubmed.ncbi.nlm.nih.gov/29116953/) | Paper family 1 | | 545 | 11778 | m.11778G\>A | [G11778A\-F545](https://mitofam.com/doc/2050) | China | LHON | 2 | 3 | 2017 | [29116953](https://pubmed.ncbi.nlm.nih.gov/29116953/) | Paper family 2 | | 546 | 11778 | m.11778G\>A |[ G11778A\-F546 ](https://mitofam.com/doc/2051)| India | LHON | ND | ND | 2017 | [29133642](https://pubmed.ncbi.nlm.nih.gov/29133642/) | Coexisting variant: T14484C | | 547 | 11778 | m.11778G\>A | G11778A\-F547 | India | LHON | ND | ND | 2017 | [29133642](https://pubmed.ncbi.nlm.nih.gov/29133642/) | | | 548 | 11778 | m.11778G\>A | G11778A\-F548 | India | LHON | ND | ND | 2017 | [29133642](https://pubmed.ncbi.nlm.nih.gov/29133642/) | | | 549 | 11778 | m.11778G\>A | G11778A\-F549 | India | LHON | ND | ND | 2017 | [29133642](https://pubmed.ncbi.nlm.nih.gov/29133642/) | | | 550 | 11778 | m.11778G\>A | G11778A\-F550 | India | LHON | ND | ND | 2017 | [29133642](https://pubmed.ncbi.nlm.nih.gov/29133642/) | | | 551 | 11778 | m.11778G\>A | G11778A\-F551 | India | LHON | ND | ND | 2017 | [29133642](https://pubmed.ncbi.nlm.nih.gov/29133642/) | | | 552 | 11778 | m.11778G\>A | G11778A\-F552 | India | LHON | ND | ND | 2017 | [29133642](https://pubmed.ncbi.nlm.nih.gov/29133642/) | | | 553 | 11778 | m.11778G\>A | G11778A\-F553 | India | LHON | ND | ND | 2017 | [29133642](https://pubmed.ncbi.nlm.nih.gov/29133642/) | | | 554 | 11778 | m.11778G\>A | G11778A\-F554 | India | LHON | ND | ND | 2017 | [29133642](https://pubmed.ncbi.nlm.nih.gov/29133642/) | | | 555 | 11778 | m.11778G\>A | G11778A\-F555 | India | LHON | ND | ND | 2017 | [29133642](https://pubmed.ncbi.nlm.nih.gov/29133642/) | | | 556 | 11778 | m.11778G\>A | G11778A\-F556 | India | LHON | ND | ND | 2017 | [29133642](https://pubmed.ncbi.nlm.nih.gov/29133642/) | | | 557 | 11778 | m.11778G\>A | G11778A\-F557 | Taiwan | LHON | 0 | 0 | 2018 | [29427840](https://pubmed.ncbi.nlm.nih.gov/29427840/) | | | 558 | 11778 | m.11778G\>A | G11778A\-F558 | France | LHON | 0 | 0 | 2018 | [29454364](https://pubmed.ncbi.nlm.nih.gov/29454364/) | | | 559 | 11778 | m.11778G\>A | G11778A\-F559 | France | LHON | 0 | 0 | 2018 | [29454364](https://pubmed.ncbi.nlm.nih.gov/29454364/) | | | 560 | 11778 | m.11778G\>A | G11778A\-F560 | France | LHON | 0 | 0 | 2018 | [29454364](https://pubmed.ncbi.nlm.nih.gov/29454364/) | | | 561 | 11778 | m.11778G\>A | G11778A\-F561 | France | LHON | 0 | 0 | 2018 | [29454364](https://pubmed.ncbi.nlm.nih.gov/29454364/) | | | 562 | 11778 | m.11778G\>A | [G11778A\-F562](https://mitofam.com/doc/2052) | United States | LHON | ND | ND | 2018 | [29587845](https://pubmed.ncbi.nlm.nih.gov/29587845/) | | | 563 | 11778 | m.11778G\>A | [G11778A\-F563](https://mitofam.com/doc/2053) | China | LHON | ND | ND | 2018 | [29649796](https://pubmed.ncbi.nlm.nih.gov/29649796/) | | | 564 | 11778 | m.11778G\>A | G11778A\-F564 | United States | LHON\-MS | 0 | 0 | 2018 | [29890302](https://pubmed.ncbi.nlm.nih.gov/29890302/) | | | 565 | 11778 | m.11778G\>A | G11778A\-F565 | United States | LHON | ND | ND | 2018 | [29955763](https://pubmed.ncbi.nlm.nih.gov/29955763/) | | | 566 | 11778 | m.11778G\>A | [G11778A\-F566](https://mitofam.com/doc/2054) | Taiwan | LHON; juvenile open\-angle glaucoma | 3 | 1 | 2018 | [30558558](https://pubmed.ncbi.nlm.nih.gov/30558558/) | | | 567 | 11778 | m.11778G\>A | G11778A\-F567 | Taiwan | LHON; juvenile open\-angle glaucoma | ND | ND | 2018 | [30558558](https://pubmed.ncbi.nlm.nih.gov/30558558/) | | | 568 | 11778 | m.11778G\>A | G11778A\-F568 | China | LHON | ND | ND | 2019 | [30597069](https://pubmed.ncbi.nlm.nih.gov/30597069/) | | | 569 | 11778 | m.11778G\>A | G11778A\-F569 | China | LHON | 7 | 5 | 2019 | [30597069](https://pubmed.ncbi.nlm.nih.gov/30597069/) | Coexisting variant: m.3394T\>C | | 570 | 11778 | m.11778G\>A | G11778A\-F570 | China | LHON | 13 | 2 | 2019 | [30597069](https://pubmed.ncbi.nlm.nih.gov/30597069/) | Coexisting variant: m.3394T\>C | | 571 | 11778 | m.11778G\>A | G11778A\-F571 | China | LHON | 7 | 1 | 2019 | [30597069](https://pubmed.ncbi.nlm.nih.gov/30597069/) | Coexisting variant: m.3394T\>C | | 572 | 11778 | m.11778G\>A | G11778A\-F572 | China | LHON | 4 | 0 | 2019 | [30597069](https://pubmed.ncbi.nlm.nih.gov/30597069/) | Coexisting variant: m.3394T\>C | | 573 | 11778 | m.11778G\>A | G11778A\-F573 | China | LHON | 5 | 1 | 2019 | [30597069](https://pubmed.ncbi.nlm.nih.gov/30597069/) | Coexisting variant: m.3394T\>C | | 574 | 11778 | m.11778G\>A | G11778A\-F574 | China | LHON | 5 | 0 | 2019 | [30597069](https://pubmed.ncbi.nlm.nih.gov/30597069/) | Coexisting variant: m.3394T\>C | | 575 | 11778 | m.11778G\>A | G11778A\-F575 | China | LHON | 8 | 2 | 2019 | [30597069](https://pubmed.ncbi.nlm.nih.gov/30597069/) | Coexisting variant: m.3394T\>C | | 576 | 11778 | m.11778G\>A | G11778A\-F576 | China | LHON | 9 | 3 | 2019 | [30597069](https://pubmed.ncbi.nlm.nih.gov/30597069/) | Coexisting variant: m.3394T\>C | | 577 | 11778 | m.11778G\>A | G11778A\-F577 | China | LHON | 7 | 6 | 2019 | [30597069](https://pubmed.ncbi.nlm.nih.gov/30597069/) | Coexisting variant: m.3394T\>C | | 578 | 11778 | m.11778G\>A | G11778A\-F578 | China | LHON | 9 | 7 | 2019 | [30597069](https://pubmed.ncbi.nlm.nih.gov/30597069/) | Coexisting variant: m.3394T\>C | | 579 | 11778 | m.11778G\>A | G11778A\-F579 | China | LHON | 6 | 1 | 2019 | [30597069](https://pubmed.ncbi.nlm.nih.gov/30597069/) | Coexisting variant: m.3394T\>C | | 580 | 11778 | m.11778G\>A | G11778A\-F580 | China | LHON | 9 | 6 | 2019 | [30597069](https://pubmed.ncbi.nlm.nih.gov/30597069/) | Coexisting variant: m.3394T\>C | | 581 | 11778 | m.11778G\>A | G11778A\-F581 | China | LHON | 5 | 2 | 2019 | [30597069](https://pubmed.ncbi.nlm.nih.gov/30597069/) | Coexisting variant: m.3394T\>C | | 582 | 11778 | m.11778G\>A | G11778A\-F582 | China | LHON | 5 | 2 | 2019 | [30597069](https://pubmed.ncbi.nlm.nih.gov/30597069/) | Coexisting variant: m.3394T\>C | | 583 | 11778 | m.11778G\>A | G11778A\-F583 | China | LHON | 5 | 3 | 2019 | [30597069](https://pubmed.ncbi.nlm.nih.gov/30597069/) | Coexisting variant: m.3394T\>C | | 584 | 11778 | m.11778G\>A | G11778A\-F584 | China | LHON | 4 | 4 | 2019 | [30597069](https://pubmed.ncbi.nlm.nih.gov/30597069/) | Coexisting variant: m.3394T\>C | | 585 | 11778 | m.11778G\>A | [G11778A\-F585](https://mitofam.com/doc/2055) | Switzerland | LHON | 3 | 0 | 2019 | [30831606](https://pubmed.ncbi.nlm.nih.gov/30831606/) | Paper family 1 | | 586 | 11778 | m.11778G\>A | [G11778A\-F586](https://mitofam.com/doc/2056) | Switzerland | LHON | 2 | 0 | 2019 | [30831606](https://pubmed.ncbi.nlm.nih.gov/30831606/) | Paper family 5 | | 587 | 11778 | m.11778G\>A | [G11778A\-F587](https://mitofam.com/doc/2057) | Australia | LHON; Harding disease / MS\-like illness in proband | 5 | 1 | 2019 | [30936345](https://pubmed.ncbi.nlm.nih.gov/30936345/) | | | 588 | 11778 | m.11778G\>A | [G11778A\-F588](https://mitofam.com/doc/2058) | Poland | LHON | 2 | 2 | 2019 | [31584786](https://pubmed.ncbi.nlm.nih.gov/31584786/) | Coexisting variant: G3460A | | 589 | 11778 | m.11778G\>A | G11778A\-F589 | India | LHON\-plus; dystonia; transverse myelitis | 0 | 0 | 2020 | [31776719](https://pubmed.ncbi.nlm.nih.gov/31776719/) | Coexisting variant: T14484C | | 590 | 11778 | m.11778G\>A | G11778A\-F590 | Russia | LHON | 8 | 0 | 2019 | [31817256](https://pubmed.ncbi.nlm.nih.gov/31817256/) | | | 591 | 11778 | m.11778G\>A | G11778A\-F591 | Russia | LHON | 3 | 0 | 2019 | [31817256](https://pubmed.ncbi.nlm.nih.gov/31817256/) | | | 592 | 11778 | m.11778G\>A | G11778A\-F592 | Russia | LHON | 0 | 0 | 2019 | [31817256](https://pubmed.ncbi.nlm.nih.gov/31817256/) | | | 593 | 11778 | m.11778G\>A | G11778A\-F593 | Russia | LHON | 1 | 0 | 2019 | [31817256](https://pubmed.ncbi.nlm.nih.gov/31817256/) | | | 594 | 11778 | m.11778G\>A | G11778A\-F594 | Russia | LHON | 3 | 1 | 2019 | [31817256](https://pubmed.ncbi.nlm.nih.gov/31817256/) | | | 595 | 11778 | m.11778G\>A | G11778A\-F595 | Azerbaijan | LHON | 0 | 0 | 2019 | [31817256](https://pubmed.ncbi.nlm.nih.gov/31817256/) | | | 596 | 11778 | m.11778G\>A | G11778A\-F596 | Russia | LHON | 5 | 7 | 2019 | [31817256](https://pubmed.ncbi.nlm.nih.gov/31817256/) | | | 597 | 11778 | m.11778G\>A | G11778A\-F597 | Russia | LHON | 9 | 1 | 2019 | [31817256](https://pubmed.ncbi.nlm.nih.gov/31817256/) | | | 598 | 11778 | m.11778G\>A | G11778A\-F598 | Russia | LHON | 7 | 1 | 2019 | [31817256](https://pubmed.ncbi.nlm.nih.gov/31817256/) | | | 599 | 11778 | m.11778G\>A | G11778A\-F599 | Ukraine | LHON | 0 | 1 | 2019 | [31817256](https://pubmed.ncbi.nlm.nih.gov/31817256/) | | | 600 | 11778 | m.11778G\>A | G11778A\-F600 | Russia | LHON | 1 | 0 | 2019 | [31817256](https://pubmed.ncbi.nlm.nih.gov/31817256/) | | | 601 | 11778 | m.11778G\>A | G11778A\-F601 | Belarus | LHON | 1 | 0 | 2019 | [31817256](https://pubmed.ncbi.nlm.nih.gov/31817256/) | | | 602 | 11778 | m.11778G\>A | G11778A\-F602 | Russia | LHON | 2 | 0 | 2019 | [31817256](https://pubmed.ncbi.nlm.nih.gov/31817256/) | | | 603 | 11778 | m.11778G\>A | G11778A\-F603 | Russia | LHON | 0 | 0 | 2019 | [31817256](https://pubmed.ncbi.nlm.nih.gov/31817256/) | | | 604 | 11778 | m.11778G\>A | G11778A\-F604 | Russia | LHON | 2 | 0 | 2019 | [31817256](https://pubmed.ncbi.nlm.nih.gov/31817256/) | | | 605 | 11778 | m.11778G\>A | G11778A\-F605 | Russia | LHON | 2 | 0 | 2019 | [31817256](https://pubmed.ncbi.nlm.nih.gov/31817256/) | | | 606 | 11778 | m.11778G\>A | G11778A\-F606 | Russia | LHON | 1 | 0 | 2019 | [31817256](https://pubmed.ncbi.nlm.nih.gov/31817256/) | | | 607 | 11778 | m.11778G\>A | [G11778A\-F607 ](https://mitofam.com/doc/2059)| Morocco | LHON | ND | ND | 2020 | [31896800](https://pubmed.ncbi.nlm.nih.gov/31896800/) | Paper family I | | 608 | 11778 | m.11778G\>A | [G11778A\-F608](https://mitofam.com/doc/2060) | Morocco | LHON | ND | ND | 2020 | [31896800](https://pubmed.ncbi.nlm.nih.gov/31896800/) | Paper family II | | 609 | 11778 | m.11778G\>A | [G11778A\-F609](https://mitofam.com/doc/2061) | China | LHON | 4 | 3 | 2020 | [31939618](https://pubmed.ncbi.nlm.nih.gov/31939618/) | Coexisting variant: m.5601C\>T | | 610 | 11778 | m.11778G\>A | G11778A\-F610 | Taiwan | LHON | ND | ND | 2020 | [32277753](https://pubmed.ncbi.nlm.nih.gov/32277753/) | | | 611 | 11778 | m.11778G\>A | G11778A\-F611 | Italy | LHON | ND | ND | 2020 | [32504279](https://pubmed.ncbi.nlm.nih.gov/32504279/) | | | 612 | 11778 | m.11778G\>A | [G11778A\-F612 ](https://mitofam.com/doc/2062)| China | LHON | 7 | 13 | 2020 | [32516135](https://pubmed.ncbi.nlm.nih.gov/32516135/) | Coexisting variant: Coexisting nuclear modifier: PRICKLE3 c.157C\>T (p.Arg53Trp) | | 613 | 11778 | m.11778G\>A | [G11778A\-F613](https://mitofam.com/doc/2063) | China | LHON | ND | 6 | 2020 | [32516135](https://pubmed.ncbi.nlm.nih.gov/32516135/) | Coexisting variant: Coexisting nuclear modifier: PRICKLE3 c.157C\>T (p.Arg53Trp) | | 614 | 11778 | m.11778G\>A | [G11778A\-F614](https://mitofam.com/doc/2064) | China | LHON | ND | 1 | 2020 | [32516135](https://pubmed.ncbi.nlm.nih.gov/32516135/) | Coexisting variant: Coexisting nuclear modifier: PRICKLE3 c.157C\>T (p.Arg53Trp) | | 615 | 11778 | m.11778G\>A | [G11778A\-F615](https://mitofam.com/doc/2065) | Serbia | LHON | 3 | 0 | 2020 | [32887465](https://pubmed.ncbi.nlm.nih.gov/32887465/) | | | 616 | 11778 | m.11778G\>A | [G11778A\-F616](https://mitofam.com/doc/2066) | Serbia | LHON | 1 | 0 | 2020 | [32887465](https://pubmed.ncbi.nlm.nih.gov/32887465/) | | | 617 | 11778 | m.11778G\>A | G11778A\-F617 | Serbia | LHON | ND | ND | 2020 | [32887465](https://pubmed.ncbi.nlm.nih.gov/32887465/) | | | 618 | 11778 | m.11778G\>A | G11778A\-F618 | Serbia | LHON | ND | ND | 2020 | [32887465](https://pubmed.ncbi.nlm.nih.gov/32887465/) | | | 619 | 11778 | m.11778G\>A | G11778A\-F619 | Serbia | LHON | ND | ND | 2020 | [32887465](https://pubmed.ncbi.nlm.nih.gov/32887465/) | | | 620 | 11778 | m.11778G\>A | G11778A\-F620 | Serbia | LHON | ND | ND | 2020 | [32887465](https://pubmed.ncbi.nlm.nih.gov/32887465/) | | | 621 | 11778 | m.11778G\>A | [G11778A\-F621 ](https://mitofam.com/doc/2067)| Serbia | LHON | 3 | 2 | 2020 | [32991883](https://pubmed.ncbi.nlm.nih.gov/32991883/) | Paper family 1; pedigree s | | 622 | 11778 | m.11778G\>A | [G11778A\-F622](https://mitofam.com/doc/2068) | Serbia | LHON | 2 | 0 | 2020 | [32991883](https://pubmed.ncbi.nlm.nih.gov/32991883/) | Paper family 5; pedigree s | | 623 | 11778 | m.11778G\>A |[ G11778A\-F623 ](https://mitofam.com/doc/2069)| Serbia | LHON | 2 | 0 | 2020 | [32991883](https://pubmed.ncbi.nlm.nih.gov/32991883/) | Paper family 6; pedigree s | | 624 | 11778 | m.11778G\>A | [G11778A\-F624 ](https://mitofam.com/doc/2070)| Serbia | LHON | 3 | 4 | 2020 | [33095398](https://pubmed.ncbi.nlm.nih.gov/33095398/) | Paper family 1 | | 625 | 11778 | m.11778G\>A | [G11778A\-F625 ](https://mitofam.com/doc/2071)| Serbia | LHON | 2 | 1 | 2020 | [33095398](https://pubmed.ncbi.nlm.nih.gov/33095398/) | Paper family 5 | | 626 | 11778 | m.11778G\>A | [G11778A\-F626 ](https://mitofam.com/doc/2072)| Serbia | LHON | 2 | 1 | 2020 | [33095398](https://pubmed.ncbi.nlm.nih.gov/33095398/) | Paper family 6 | | 627 | 11778 | m.11778G\>A | G11778A\-F627 | Brazil | LHON | 0 | 0 | 2021 | [33584522](https://pubmed.ncbi.nlm.nih.gov/33584522/) | | | 628 | 11778 | m.11778G\>A | [G11778A\-F628](https://mitofam.com/doc/2073) | Brazil | LHON | 1 | 0 | 2021 | [33584522](https://pubmed.ncbi.nlm.nih.gov/33584522/) | | | 629 | 11778 | m.11778G\>A | [G11778A\-F629](https://mitofam.com/doc/2074) | Brazil | LHON | 1 | 1 | 2021 | [33584522](https://pubmed.ncbi.nlm.nih.gov/33584522/) | | | 630 | 11778 | m.11778G\>A | G11778A\-F630 | Brazil | LHON | 0 | 0 | 2021 | [33584522](https://pubmed.ncbi.nlm.nih.gov/33584522/) | | | 631 | 11778 | m.11778G\>A | G11778A\-F631 | Brazil | LHON | 0 | 0 | 2021 | [33584522](https://pubmed.ncbi.nlm.nih.gov/33584522/) | | | 632 | 11778 | m.11778G\>A | [G11778A\-F632](https://mitofam.com/doc/2075/) | Brazil | LHON | 2 | 1 | 2021 | [33584522](https://pubmed.ncbi.nlm.nih.gov/33584522/) | | | 633 | 11778 | m.11778G\>A | G11778A\-F633 | Brazil | LHON | 0 | 0 | 2021 | [33584522](https://pubmed.ncbi.nlm.nih.gov/33584522/) | | | 634 | 11778 | m.11778G\>A | G11778A\-F634 | Brazil | LHON | 0 | 0 | 2021 | [33584522](https://pubmed.ncbi.nlm.nih.gov/33584522/) | | | 635 | 11778 | m.11778G\>A | G11778A\-F635 | Brazil | LHON | 0 | 0 | 2021 | [33584522](https://pubmed.ncbi.nlm.nih.gov/33584522/) | | | 636 | 11778 | m.11778G\>A | G11778A\-F636 | Brazil | LHON | 0 | 0 | 2021 | [33584522](https://pubmed.ncbi.nlm.nih.gov/33584522/) | | | 637 | 11778 | m.11778G\>A | [G11778A\-F637 ](https://mitofam.com/doc/2076)| Brazil | LHON | 4 | 0 | 2021 | [33584522](https://pubmed.ncbi.nlm.nih.gov/33584522/) | | | 638 | 11778 | m.11778G\>A | G11778A\-F638 | Brazil | LHON | 3 | 1 | 2021 | [33584522](https://pubmed.ncbi.nlm.nih.gov/33584522/) | | | 639 | 11778 | m.11778G\>A | [G11778A\-F639](https://mitofam.com/doc/2077) | Germany | LHON | ND | ND | 2021 | [33706792](https://pubmed.ncbi.nlm.nih.gov/33706792/) | | | 640 | 11778 | m.11778G\>A | G11778A\-F640 | Bulgaria | Schizophrenia | 0 | 0 | 2021 | [34060999](https://pubmed.ncbi.nlm.nih.gov/34060999/) | | | 641 | 11778 | m.11778G\>A | G11778A\-F641 | Canada | LHON | ND | ND | 2021 | [34415266](https://pubmed.ncbi.nlm.nih.gov/34415266/) | | | 642 | 11778 | m.11778G\>A | G11778A\-F642 | Canada | LHON | ND | ND | 2021 | [34415266](https://pubmed.ncbi.nlm.nih.gov/34415266/) | | | 643 | 11778 | m.11778G\>A | G11778A\-F643 | USA | Preterm birth cohort | ND | ND | 2021 | [34467602](https://pubmed.ncbi.nlm.nih.gov/34467602/) | | | 644 | 11778 | m.11778G\>A | G11778A\-F644 | India | LHON | ND | ND | 2021 | [34573281](https://pubmed.ncbi.nlm.nih.gov/34573281/) | | | 645 | 11778 | m.11778G\>A | G11778A\-F645 | India | LHON | 0 | 0 | 2021 | [34573281](https://pubmed.ncbi.nlm.nih.gov/34573281/) | | | 646 | 11778 | m.11778G\>A | G11778A\-F646 | India | LHON | ND | ND | 2021 | [34573281](https://pubmed.ncbi.nlm.nih.gov/34573281/) | | | 647 | 11778 | m.11778G\>A | G11778A\-F647 | India | LHON | ND | ND | 2021 | [34573281](https://pubmed.ncbi.nlm.nih.gov/34573281/) | | | 648 | 11778 | m.11778G\>A | G11778A\-F648 | India | LHON | 0 | 0 | 2021 | [34573281](https://pubmed.ncbi.nlm.nih.gov/34573281/) | | | 649 | 11778 | m.11778G\>A | G11778A\-F649 | India | LHON | 0 | 0 | 2021 | [34573281](https://pubmed.ncbi.nlm.nih.gov/34573281/) | | | 650 | 11778 | m.11778G\>A | G11778A\-F650 | India | LHON | ND | ND | 2021 | [34573281](https://pubmed.ncbi.nlm.nih.gov/34573281/) | | | 651 | 11778 | m.11778G\>A | G11778A\-F651 | India | LHON | 0 | 0 | 2021 | [34573281](https://pubmed.ncbi.nlm.nih.gov/34573281/) | | | 652 | 11778 | m.11778G\>A | G11778A\-F652 | India | LHON | ND | ND | 2021 | [34573281](https://pubmed.ncbi.nlm.nih.gov/34573281/) | | | 653 | 11778 | m.11778G\>A | G11778A\-F653 | India | LHON | 0 | 0 | 2021 | [34573281](https://pubmed.ncbi.nlm.nih.gov/34573281/) | | | 654 | 11778 | m.11778G\>A | G11778A\-F654 | India | LHON | ND | ND | 2021 | [34573281](https://pubmed.ncbi.nlm.nih.gov/34573281/) | | | 655 | 11778 | m.11778G\>A | G11778A\-F655 | India | LHON | 0 | 0 | 2021 | [34573281](https://pubmed.ncbi.nlm.nih.gov/34573281/) | | | 656 | 11778 | m.11778G\>A | G11778A\-F656 | India | LHON | ND | ND | 2021 | [34573281](https://pubmed.ncbi.nlm.nih.gov/34573281/) | | | 657 | 11778 | m.11778G\>A | G11778A\-F657 | India | LHON | ND | ND | 2021 | [34573281](https://pubmed.ncbi.nlm.nih.gov/34573281/) | | | 658 | 11778 | m.11778G\>A | G11778A\-F658 | India | LHON | 0 | 0 | 2021 | [34573281](https://pubmed.ncbi.nlm.nih.gov/34573281/) | | | 659 | 11778 | m.11778G\>A | G11778A\-F659 | India | LHON | 0 | 0 | 2021 | [34573281](https://pubmed.ncbi.nlm.nih.gov/34573281/) | | | 660 | 11778 | m.11778G\>A | G11778A\-F660 | India | LHON | 0 | 0 | 2021 | [34573281](https://pubmed.ncbi.nlm.nih.gov/34573281/) | | | 661 | 11778 | m.11778G\>A | G11778A\-F661 | India | LHON | ND | ND | 2021 | [34573281](https://pubmed.ncbi.nlm.nih.gov/34573281/) | | | 662 | 11778 | m.11778G\>A | G11778A\-F662 | India | LHON | 0 | 0 | 2021 | [34573281](https://pubmed.ncbi.nlm.nih.gov/34573281/) | | | 663 | 11778 | m.11778G\>A | G11778A\-F663 | India | LHON | 0 | 0 | 2021 | [34573281](https://pubmed.ncbi.nlm.nih.gov/34573281/) | | | 664 | 11778 | m.11778G\>A | G11778A\-F664 | India | LHON | 0 | 0 | 2021 | [34573281](https://pubmed.ncbi.nlm.nih.gov/34573281/) | | | 665 | 11778 | m.11778G\>A | G11778A\-F665 | India | LHON | ND | ND | 2021 | [34573281](https://pubmed.ncbi.nlm.nih.gov/34573281/) | | | 666 | 11778 | m.11778G\>A | G11778A\-F666 | India | LHON | 0 | 0 | 2021 | [34573281](https://pubmed.ncbi.nlm.nih.gov/34573281/) | | | 667 | 11778 | m.11778G\>A | G11778A\-F667 | India | LHON | ND | ND | 2021 | [34573281](https://pubmed.ncbi.nlm.nih.gov/34573281/) | | | 668 | 11778 | m.11778G\>A | G11778A\-F668 | India | LHON | ND | ND | 2021 | [34573281](https://pubmed.ncbi.nlm.nih.gov/34573281/) | | | 669 | 11778 | m.11778G\>A | G11778A\-F669 | India | LHON | 0 | 0 | 2021 | [34573281](https://pubmed.ncbi.nlm.nih.gov/34573281/) | | | 670 | 11778 | m.11778G\>A | G11778A\-F670 | India | LHON | ND | ND | 2021 | [34573281](https://pubmed.ncbi.nlm.nih.gov/34573281/) | | | 671 | 11778 | m.11778G\>A | G11778A\-F671 | India | LHON | 0 | 0 | 2021 | [34573281](https://pubmed.ncbi.nlm.nih.gov/34573281/) | | | 672 | 11778 | m.11778G\>A | G11778A\-F672 | United States | LHON | ND | ND | 2022 | [34915201](https://pubmed.ncbi.nlm.nih.gov/34915201/) | | | 673 | 11778 | m.11778G\>A | G11778A\-F673 | USA | LHON plus | ND | ND | 2022 | [34969639](https://pubmed.ncbi.nlm.nih.gov/34969639/) | | | 674 | 11778 | m.11778G\>A | [G11778A\-F674](https://mitofam.com/doc/2079) | USA | Optic atrophy; vision loss | ND | ND | 2022 | [34969639](https://pubmed.ncbi.nlm.nih.gov/34969639/) | | | 675 | 11778 | m.11778G\>A | G11778A\-F675 | USA | LHON | ND | ND | 2022 | [34969639](https://pubmed.ncbi.nlm.nih.gov/34969639/) | | | 676 | 11778 | m.11778G\>A | [G11778A\-F676](https://mitofam.com/doc/2080) | Germany | Young\-onset LHON | ND | ND | 2022 | [35190400](https://pubmed.ncbi.nlm.nih.gov/35190400/) | | | 677 | 11778 | m.11778G\>A | G11778A\-F677 | China | LHON | 6 | 7 | 2022 | [35623556](https://pubmed.ncbi.nlm.nih.gov/35623556/) | Coexisting variant: m.4435A\>G. Original pedigree identifier: WZ2 | | 678 | 11778 | m.11778G\>A | G11778A\-F678 | China | LHON | 8 | 2 | 2022 | [35623556](https://pubmed.ncbi.nlm.nih.gov/35623556/) | Coexisting variant: m.15927G\>A. Original pedigree identifier: WZ541 | | 679 | 11778 | m.11778G\>A | G11778A\-F679 | China | LHON | 13 | 2 | 2022 | [35623556](https://pubmed.ncbi.nlm.nih.gov/35623556/) | Coexisting variant: m.15927G\>A. Original pedigree identifier: WZ502 | | 680 | 11778 | m.11778G\>A | G11778A\-F680 | China | LHON | 4 | 0 | 2022 | [35623556](https://pubmed.ncbi.nlm.nih.gov/35623556/) | Coexisting variant: m.15927G\>A. Original pedigree identifier: WZ312 | | 681 | 11778 | m.11778G\>A | G11778A\-F681 | China | LHON | 26 | 8 | 2022 | [35623556](https://pubmed.ncbi.nlm.nih.gov/35623556/) | Coexisting variant: m.15927G\>A. Original pedigree identifier: XT194 | | 682 | 11778 | m.11778G\>A | G11778A\-F682 | China | LHON | 8 | 5 | 2022 | [35623556](https://pubmed.ncbi.nlm.nih.gov/35623556/) | Coexisting variant: m.15927G\>A. Original pedigree identifier: XT290 | | 683 | 11778 | m.11778G\>A | G11778A\-F683 | China | LHON | 4 | 5 | 2022 | [35623556](https://pubmed.ncbi.nlm.nih.gov/35623556/) | Coexisting variant: m.15951A\>G. Original pedigree identifier: WZ3 | | 684 | 11778 | m.11778G\>A | G11778A\-F684 | China | LHON | 7 | 3 | 2022 | [35623556](https://pubmed.ncbi.nlm.nih.gov/35623556/) | Coexisting variant: m.15951A\>G. Original pedigree identifier: WZ355 | | 685 | 11778 | m.11778G\>A | G11778A\-F685 | China | LHON | 3 | 0 | 2022 | [35623556](https://pubmed.ncbi.nlm.nih.gov/35623556/) | Coexisting variant: m.15951A\>G. Original pedigree identifier: WZ419 | | 686 | 11778 | m.11778G\>A | G11778A\-F686 | China | LHON | 4 | 2 | 2022 | [35623556](https://pubmed.ncbi.nlm.nih.gov/35623556/) | Coexisting variant: m.15951A\>G. Original pedigree identifier: XT209 | | 687 | 11778 | m.11778G\>A | G11778A\-F687 | China | LHON | 12 | 5 | 2022 | [35623556](https://pubmed.ncbi.nlm.nih.gov/35623556/) | Coexisting variant: m.15951A\>G. Original pedigree identifier: XT253 | | 688 | 11778 | m.11778G\>A | G11778A\-F688 | China | LHON | 7 | 2 | 2022 | [35623556](https://pubmed.ncbi.nlm.nih.gov/35623556/) | Coexisting variant: m.644A\>G. Original pedigree identifier: WZ1186 | | 689 | 11778 | m.11778G\>A | G11778A\-F689 | China | LHON | 4 | 0 | 2022 | [35623556](https://pubmed.ncbi.nlm.nih.gov/35623556/) | Coexisting variant: m.644A\>G. Original pedigree identifier: WZ1208 | | 690 | 11778 | m.11778G\>A | G11778A\-F690 | China | LHON | 6 | 3 | 2022 | [35623556](https://pubmed.ncbi.nlm.nih.gov/35623556/) | Coexisting variant: m.4316A\>G. Original pedigree identifier: WZ1140 | | 691 | 11778 | m.11778G\>A | G11778A\-F691 | China | LHON | 15 | 6 | 2022 | [35623556](https://pubmed.ncbi.nlm.nih.gov/35623556/) | Coexisting variant: m.5527A\>G. Original pedigree identifier: WZ1212 | | 692 | 11778 | m.11778G\>A | G11778A\-F692 | China | LHON | 4 | 3 | 2022 | [35623556](https://pubmed.ncbi.nlm.nih.gov/35623556/) | Coexisting variant: m.5558A\>G. Original pedigree identifier: WZ547 | | 693 | 11778 | m.11778G\>A | G11778A\-F693 | China | LHON | 5 | 3 | 2022 | [35623556](https://pubmed.ncbi.nlm.nih.gov/35623556/) | Coexisting variant: m.5558A\>G. Original pedigree identifier: WZ603 | | 694 | 11778 | m.11778G\>A | G11778A\-F694 | China | LHON | 5 | 2 | 2022 | [35623556](https://pubmed.ncbi.nlm.nih.gov/35623556/) | Coexisting variant: m.5715A\>G. Original pedigree identifier: XT166 | | 695 | 11778 | m.11778G\>A | G11778A\-F695 | China | LHON | 6 | 2 | 2022 | [35623556](https://pubmed.ncbi.nlm.nih.gov/35623556/) | Coexisting variant: m.10055A\>G. Original pedigree identifier: WZ862 | | 696 | 11778 | m.11778G\>A | G11778A\-F696 | China | LHON | 7 | 3 | 2022 | [35623556](https://pubmed.ncbi.nlm.nih.gov/35623556/) | Coexisting variant: m.10438A\>G. Original pedigree identifier: WZ1243 | | 697 | 11778 | m.11778G\>A | G11778A\-F697 | China | LHON | 4 | 5 | 2022 | [35623556](https://pubmed.ncbi.nlm.nih.gov/35623556/) | Coexisting variant: m.12141A\>G. Original pedigree identifier: WZ717 | | 698 | 11778 | m.11778G\>A | G11778A\-F698 | China | LHON | 6 | 6 | 2022 | [35623556](https://pubmed.ncbi.nlm.nih.gov/35623556/) | Coexisting variant: m.12223A\>G. Original pedigree identifier: WZ508 | | 699 | 11778 | m.11778G\>A | G11778A\-F699 | China | LHON | 14 | 10 | 2022 | [35623556](https://pubmed.ncbi.nlm.nih.gov/35623556/) | Coexisting variant: m.12223A\>G. Original pedigree identifier: WZ790 | | 700 | 11778 | m.11778G\>A | G11778A\-F700 | China | LHON | 10 | 7 | 2022 | [35623556](https://pubmed.ncbi.nlm.nih.gov/35623556/) | Coexisting variant: m.12308A\>G. Original pedigree identifier: WZ489 | | 701 | 11778 | m.11778G\>A | G11778A\-F701 | China | LHON | 7 | 3 | 2022 | [35623556](https://pubmed.ncbi.nlm.nih.gov/35623556/) | Coexisting variant: m.12308A\>G. Original pedigree identifier: WZ748 | | 702 | 11778 | m.11778G\>A | G11778A\-F702 | China | LHON | 4 | 3 | 2022 | [35623556](https://pubmed.ncbi.nlm.nih.gov/35623556/) | Coexisting variant: m.12308A\>G. Original pedigree identifier: WZ1028 | | 703 | 11778 | m.11778G\>A | G11778A\-F703 | China | LHON | 4 | 2 | 2022 | [35623556](https://pubmed.ncbi.nlm.nih.gov/35623556/) | Coexisting variant: m.12308A\>G. Original pedigree identifier: XT255 | | 704 | 11778 | m.11778G\>A | G11778A\-F704 | China | LHON | 4 | 2 | 2022 | [35623556](https://pubmed.ncbi.nlm.nih.gov/35623556/) | Coexisting variant: m.14692A\>G. Original pedigree identifier: WZ883 | | 705 | 11778 | m.11778G\>A | G11778A\-F705 | Belgium | LHON; multiple sclerosis/Harding syndrome | 0 | 0 | 2022 | [35690699](https://pubmed.ncbi.nlm.nih.gov/35690699/) | | | 706 | 11778 | m.11778G\>A | G11778A\-F706 | India | LHON | 0 | 0 | 2022 | [35791239](https://pubmed.ncbi.nlm.nih.gov/35791239/) | | | 707 | 11778 | m.11778G\>A |[ G11778A\-F707](https://mitofam.com/doc/2081) | Italy | LHON | 1 | 0 | 2022 | [35858578](https://pubmed.ncbi.nlm.nih.gov/35858578/) | | | 708 | 11778 | m.11778G\>A | [G11778A\-F708](https://mitofam.com/doc/2083) | Italy | LHON | 1 | 0 | 2022 | [35858578](https://pubmed.ncbi.nlm.nih.gov/35858578/) | | | 709 | 11778 | m.11778G\>A | G11778A\-F709 | China | LHON | 0 | 0 | 2022 | [36358916](https://pubmed.ncbi.nlm.nih.gov/36358916/) | | | 710 | 11778 | m.11778G\>A | G11778A\-F710 | China | LHON | 0 | 0 | 2022 | [36358916](https://pubmed.ncbi.nlm.nih.gov/36358916/) | | | 711 | 11778 | m.11778G\>A | [G11778A\-F711 ](https://mitofam.com/doc/2085)| Italy | LHON | 1 | 0 | 2023 | [37628761](https://pubmed.ncbi.nlm.nih.gov/37628761/) | | | 712 | 11778 | m.11778G\>A | G11778A\-F712 | Italy | LHON | 0 | 0 | 2023 | [37628761](https://pubmed.ncbi.nlm.nih.gov/37628761/) | | | 713 | 11778 | m.11778G\>A | G11778A\-F713 | China | LHON | ND | ND | 2024 | [38346855](https://pubmed.ncbi.nlm.nih.gov/38346855/) | | | 714 | 11778 | m.11778G\>A | G11778A\-F714 | Canada | LHON | 0 | 0 | 2024 | [38710404](https://pubmed.ncbi.nlm.nih.gov/38710404/) | | | 715 | 11778 | m.11778G\>A | G11778A\-F715 | Canada | LHON | 0 | 0 | 2024 | [38768545](https://pubmed.ncbi.nlm.nih.gov/38768545/) | | | 716 | 11778 | m.11778G\>A |[ G11778A\-F716](https://mitofam.com/doc/2089) | India | LHON | ND | ND | 2026 | [41850596](https://pubmed.ncbi.nlm.nih.gov/41850596/) | | | 717 | PDF3\-P040 | m.11778G\>A | G11778A\-F717 | Korea | LHON | 0 | 0 | 2010 | [20491810](https://pubmed.ncbi.nlm.nih.gov/20491810/) | | | 718 | PDF3\-P040 | m.11778G\>A | G11778A\-F718 | Korea | LHON | 0 | 0 | 2010 | [20491810](https://pubmed.ncbi.nlm.nih.gov/20491810/) | | | 719 | PDF3\-P040 | m.11778G\>A | G11778A\-F719 | Korea | LHON | 0 | 0 | 2010 | [20491810](https://pubmed.ncbi.nlm.nih.gov/20491810/) | | | 720 | PDF3\-P072 | m.11778G\>A | G11778A\-F720 | Brazil | LHON | 0 | 0 | 2014 | [24369379](https://pubmed.ncbi.nlm.nih.gov/24369379/) | | | 721 | PDF3\-P072 | m.11778G\>A | G11778A\-F721 | Brazil | LHON | 1 | 0 | 2014 | [24369379](https://pubmed.ncbi.nlm.nih.gov/24369379/) | | # **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 | 11778 | m.11778G\>A | G11778A\-F1 | G11778A\-F1\-P1 | Fam | M | Y | Y | ND | 25 | / | / | / | / | Acute vision loss; LHON | Special history/medication: Proband; 13\-year heavy smoking history | | 2 | 11778 | m.11778G\>A | G11778A\-F2 | G11778A\-F2\-I1 | Uninf | F | N | N | A | 50 | 80% | / | / | / | Healthy | Original carrier identifier: A\-I\-2 | | 3 | 11778 | m.11778G\>A | G11778A\-F2 | G11778A\-F2\-II1 | Fam | M | Y | Y | A | 26 | 83% | / | / | / | LHON; visual loss onset age 16 | Original carrier identifier: A\-II\-1 | | 4 | 11778 | m.11778G\>A | G11778A\-F3 | G11778A\-F3\-I1 | Uninf | F | N | N | A | 64 | 67% | / | / | / | Healthy | Original carrier identifier: B\-I\-2 | | 5 | 11778 | m.11778G\>A | G11778A\-F3 | G11778A\-F3\-II1 | Fam | F | N | Y | A | 47 | 84% | / | / | / | LHON; visual loss onset age 15 | Original carrier identifier: B\-II\-1 | | 6 | 11778 | m.11778G\>A | G11778A\-F3 | G11778A\-F3\-II2 | Fam | M | N | Y | A | 44 | 77% | / | / | / | LHON; visual loss onset age 16 | Original carrier identifier: B\-II\-2 | | 7 | 11778 | m.11778G\>A | G11778A\-F3 | G11778A\-F3\-II3 | Fam | F | N | N | A | 43 | 92% | / | / | / | Healthy | Original carrier identifier: B\-II\-3 | | 8 | 11778 | m.11778G\>A | G11778A\-F3 | G11778A\-F3\-III1 | Fam | F | N | N | A | 23 | 82% | / | / | / | Healthy | Original carrier identifier: B\-III\-1 | | 9 | 11778 | m.11778G\>A | G11778A\-F3 | G11778A\-F3\-III2 | Fam | F | N | N | A | 15 | 85% | / | / | / | Healthy | Original carrier identifier: B\-III\-2 | | 10 | 11778 | m.11778G\>A | G11778A\-F3 | G11778A\-F3\-III3 | Fam | M | Y | Y | A | 15 | 90% | / | / | / | LHON; visual loss onset age 5 | Original carrier identifier: B\-III\-3 | | 11 | 11778 | m.11778G\>A | G11778A\-F4 | G11778A\-F4\-I1 | Uninf | F | N | N | A | 58 | 47% | / | / | / | Healthy | Original carrier identifier: C\-I\-2 | | 12 | 11778 | m.11778G\>A | G11778A\-F4 | G11778A\-F4\-II1 | Fam | M | Y | Y | A | 26 | 90% | / | / | / | LHON; visual loss onset age 15 | Original carrier identifier: C\-II\-1 | | 13 | 11778 | m.11778G\>A | G11778A\-F4 | G11778A\-F4\-II2 | Fam | F | N | N | A | 32 | 32% | / | / | / | Healthy | Original carrier identifier: C\-II\-2 | | 14 | 11778 | m.11778G\>A | G11778A\-F5 | G11778A\-F5\-II1 | Fam | F | N | N | D | 89 | 32% | / | / | / | Healthy | Original carrier identifier: D\-II\-2 | | 15 | 11778 | m.11778G\>A | G11778A\-F5 | G11778A\-F5\-III1 | Fam | F | N | N | A | 66 | 80% | / | / | / | Healthy | Original carrier identifier: D\-III\-1 | | 16 | 11778 | m.11778G\>A | G11778A\-F5 | G11778A\-F5\-IV1 | Fam | F | N | N | A | 36 | 90% | / | / | / | Healthy | Original carrier identifier: D\-IV\-1 | | 17 | 11778 | m.11778G\>A | G11778A\-F5 | G11778A\-F5\-IV2 | Fam | M | N | N | A | 34 | 37% | / | / | / | Healthy | Original carrier identifier: D\-IV\-2 | | 18 | 11778 | m.11778G\>A | G11778A\-F5 | G11778A\-F5\-IV3 | Fam | F | N | N | A | 33 | 80% | / | / | / | Healthy | Original carrier identifier: D\-IV\-3 | | 19 | 11778 | m.11778G\>A | G11778A\-F5 | G11778A\-F5\-IV4 | Fam | F | Y | Y | A | 30 | 62% | / | / | / | LHON; visual loss onset age 24 | Original carrier identifier: D\-IV\-4 | | 20 | 11778 | m.11778G\>A | G11778A\-F5 | G11778A\-F5\-IV5 | Fam | M | N | N | A | 29 | 55% | / | / | / | Healthy | Original carrier identifier: D\-IV\-5 | | 21 | 11778 | m.11778G\>A | G11778A\-F5 | G11778A\-F5\-IV6 | Fam | F | N | N | A | 27 | 89% | / | / | / | Healthy | Original carrier identifier: D\-IV\-6 | | 22 | 11778 | m.11778G\>A | G11778A\-F5 | G11778A\-F5\-IV7 | Fam | F | N | N | A | 25 | 91% | / | / | / | Healthy | Original carrier identifier: D\-IV\-7 | | 23 | 11778 | m.11778G\>A | G11778A\-F6 | G11778A\-F6\-III1 | Fam | ND | N | Y | ND | ND | Homo | / | / | / | LHON | Original carrier identifier: III\-13 | | 24 | 11778 | m.11778G\>A | G11778A\-F6 | G11778A\-F6\-IV1 | Fam | ND | N | Y | ND | ND | Homo | / | / | / | LHON | Original carrier identifier: IV\-12 | | 25 | 11778 | m.11778G\>A | G11778A\-F6 | G11778A\-F6\-V1 | Fam | ND | N | N | ND | ND | Heteroplasmic | / | / | / | Healthy | Original carrier identifier: V\-9 | | 26 | 11778 | m.11778G\>A | G11778A\-F6 | G11778A\-F6\-VI1 | Fam | ND | N | N | ND | ND | Homo | / | / | / | Healthy | Original carrier identifier: VI\-5 | | 27 | 11778 | m.11778G\>A | G11778A\-F6 | G11778A\-F6\-VI2 | Fam | ND | N | Y | ND | ND | Homo | / | / | / | LHON | Original carrier identifier: VI\-11 | | 28 | 11778 | m.11778G\>A | G11778A\-F6 | G11778A\-F6\-VI3 | Fam | ND | Y | Y | ND | ND | Homo | / | / | / | LHON | Original carrier identifier: VI\-17 | | 29 | 11778 | m.11778G\>A | G11778A\-F6 | G11778A\-F6\-VI4 | Fam | ND | N | Y | ND | ND | Homo | / | / | / | LHON | Original carrier identifier: VI\-18 | | 30 | 11778 | m.11778G\>A | G11778A\-F7 | G11778A\-F7\-P1 | Uninf | M | Y | Y | A | 10 | / | / | / | Homo(ND) | Subacute LHON; poor bilateral vision; hyperemic optic discs; tortuous peripapillary vessels | Original carrier identifier: patient; medication: idebenone | | 31 | 11778 | m.11778G\>A | G11778A\-F8 | G11778A\-F8\-II1 | Fam | M | Y | Y | ND | 45 | Homo | / | / | / | LHON; visual recovery | Original ID: Case 1 | | 32 | 11778 | m.11778G\>A | G11778A\-F8 | G11778A\-F8\-II2 | Fam | M | N | Y | ND | 40 | / | / | / | / | LHON | Original carrier identifier: affected nephew | | 33 | 11778 | m.11778G\>A | G11778A\-F9 | G11778A\-F9\-P1 | Uninf | M | Y | Y | ND | 14 | Homo | / | / | / | LHON; visual recovery | Original ID: Case 2 | | 34 | 11778 | m.11778G\>A | G11778A\-F10 | G11778A\-F10\-P1 | Fam | M | Y | Y | ND | 12 | Homo | / | / | / | LHON; visual recovery | Original carrier identifier: Case 3 | | 35 | 11778 | m.11778G\>A | G11778A\-F11 | G11778A\-F11\-P1 | Fam | F | Y | Y | ND | 9 | Homo | / | / | / | LHON; visual recovery | Original carrier identifier: Case 4 | | 36 | 11778 | m.11778G\>A | G11778A\-F12 | G11778A\-F12\-P1 | Uninf | M | Y | Y | ND | 15 | Homo | / | / | / | LHON; visual recovery | Original ID: Case 5 | | 37 | 11778 | m.11778G\>A | G11778A\-F13 | G11778A\-F13\-III1 | Fam | F | N | Y | A | ND | Homo | / | / | / | LHON; became blind at age 72 | | | 38 | 11778 | m.11778G\>A | G11778A\-F13 | G11778A\-F13\-III2 | Fam | ND | N | N | A | ND | Homo | / | / | / | Healthy | | | 39 | 11778 | m.11778G\>A | G11778A\-F13 | G11778A\-F13\-IV1 | Fam | ND | N | N | A | ND | Homo | / | / | / | Healthy | | | 40 | 11778 | m.11778G\>A | G11778A\-F13 | G11778A\-F13\-IV2 | Fam | M | N | Y | A | ND | Homo | / | / | / | LHON; visual loss onset age 18 | | | 41 | 11778 | m.11778G\>A | G11778A\-F13 | G11778A\-F13\-IV3 | Fam | F | N | N | A | 64 | Homo | Homo | / | Homo(F) | Healthy | Original carrier identifier: IV:8; special history: muscle complex I deficiency | | 42 | 11778 | m.11778G\>A | G11778A\-F13 | G11778A\-F13\-IV4 | Fam | ND | N | N | A | ND | Homo | / | / | / | Healthy | | | 43 | 11778 | m.11778G\>A | G11778A\-F13 | G11778A\-F13\-IV5 | Fam | ND | N | N | A | ND | Homo | / | / | / | Healthy | | | 44 | 11778 | m.11778G\>A | G11778A\-F13 | G11778A\-F13\-V1 | Fam | M | N | Y | A | ND | Homo | / | / | / | LHON; visual loss onset age 26 | | | 45 | 11778 | m.11778G\>A | G11778A\-F13 | G11778A\-F13\-V2 | Fam | M | Y | Y | A | 39 | Homo | Homo | / | Homo(F) | Bilateral optic atrophy; tremor; dystonia; putaminal lesions | | | 46 | 11778 | m.11778G\>A | G11778A\-F13 | G11778A\-F13\-V3 | Fam | F | N | N | A | 39 | Homo | Homo | / | Homo(F) | Peripapillary microangiopathy; no additional neurological signs | | | 47 | 11778 | m.11778G\>A | G11778A\-F13 | G11778A\-F13\-V4 | Fam | M | N | N | A | ND | Homo | Homo | / | Homo(F) | Healthy | Original carrier identifier: V:4; special history: muscle complex I deficiency | | 48 | 11778 | m.11778G\>A | G11778A\-F13 | G11778A\-F13\-V5 | Fam | ND | N | N | A | 29 | Homo | Homo | / | Homo(F) | Healthy | Original carrier identifier: V:5 | | 49 | 11778 | m.11778G\>A | G11778A\-F13 | G11778A\-F13\-V6 | Fam | ND | N | N | A | ND | Homo | / | / | / | Healthy | | | 50 | 11778 | m.11778G\>A | G11778A\-F14 | G11778A\-F14\-II1 | Fam | ND | N | N | ND | ND | Homo | / | / | / | Healthy | | | 51 | 11778 | m.11778G\>A | G11778A\-F14 | G11778A\-F14\-II2 | Fam | ND | N | N | ND | ND | Homo | / | / | / | Healthy | | | 52 | 11778 | m.11778G\>A | G11778A\-F14 | G11778A\-F14\-II3 | Fam | ND | N | N | ND | ND | Homo | / | / | / | Healthy | | | 53 | 11778 | m.11778G\>A | G11778A\-F14 | G11778A\-F14\-II4 | Fam | ND | N | N | ND | ND | Homo | / | / | / | Healthy | | | 54 | 11778 | m.11778G\>A | G11778A\-F14 | G11778A\-F14\-II5 | Fam | ND | N | N | ND | ND | Homo | / | / | / | Healthy | | | 55 | 11778 | m.11778G\>A | G11778A\-F14 | G11778A\-F14\-II6 | Fam | M | Y | Y | A | 55 | Homo | / | / | / | LHON; bilateral blindness; visual impairment with partial recovery | Original carrier identifier: Patient 1 | | 56 | 11778 | m.11778G\>A | G11778A\-F14 | G11778A\-F14\-II7 | Fam | M | N | Y | A | 35 | Homo | / | / | / | LHON; bilateral blindness; visual impairment with partial recovery | Original carrier identifier: Patient 2 | | 57 | 11778 | m.11778G\>A | G11778A\-F14 | G11778A\-F14\-II8 | Fam | M | N | Y | A | 25 | Homo | / | / | / | LHON; bilateral blindness; increased lactate after exercise | Original carrier identifier: Patient 3 | | 58 | 11778 | m.11778G\>A | G11778A\-F15 | G11778A\-F15\-II1 | Fam | F | N | N | ND | ND | Homo | / | / | / | Healthy | Original carrier identifier: Figure 1 lane 2 | | 59 | 11778 | m.11778G\>A | G11778A\-F15 | G11778A\-F15\-II2 | Fam | M | N | N | ND | 14 | Homo | / | / | / | Healthy | Original carrier identifier: Figure 1 lane 3 | | 60 | 11778 | m.11778G\>A | G11778A\-F15 | G11778A\-F15\-II3 | Fam | M | Y | Y | ND | 19 | Homo | / | / | / | LHON; acute visual failure, central scotoma, blind spot in right eye | Original carrier identifier: Figure 1 lane 4 | | 61 | 11778 | m.11778G\>A | G11778A\-F16 | G11778A\-F16\-II1 | Fam | M | Y | Y | A | 26 | / | / | / | / | LHON; bilateral visual loss; central scotomata | Original carrier identifier: proband | | 62 | 11778 | m.11778G\>A | G11778A\-F16 | G11778A\-F16\-II2 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | | | 63 | 11778 | m.11778G\>A | G11778A\-F16 | G11778A\-F16\-II3 | Fam | M | N | N | A | ND | / | / | / | / | Healthy | | | 64 | 11778 | m.11778G\>A | G11778A\-F16 | G11778A\-F16\-II4 | Fam | M | N | N | A | ND | / | / | / | / | Healthy | | | 65 | 11778 | m.11778G\>A | G11778A\-F17 | G11778A\-F17\-II1 | Fam | M | Y | Y | ND | 45 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 1 | | 66 | 11778 | m.11778G\>A | G11778A\-F17 | G11778A\-F17\-II2 | Fam | M | N | Y | ND | 21 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 1 | | 67 | 11778 | m.11778G\>A | G11778A\-F17 | G11778A\-F17\-II3 | Fam | M | N | Y | ND | 20 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 1 | | 68 | 11778 | m.11778G\>A | G11778A\-F17 | G11778A\-F17\-II4 | Fam | M | N | Y | ND | 24 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 1 | | 69 | 11778 | m.11778G\>A | G11778A\-F17 | G11778A\-F17\-II5 | Fam | F | N | Y | ND | 50 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 1 | | 70 | 11778 | m.11778G\>A | G11778A\-F17 | G11778A\-F17\-II6 | Fam | F | N | Y | ND | 36 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 1 | | 71 | 11778 | m.11778G\>A | G11778A\-F17 | G11778A\-F17\-II7 | Fam | F | N | Y | ND | 53 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 1 | | 72 | 11778 | m.11778G\>A | G11778A\-F17 | G11778A\-F17\-II8 | Fam | M | N | Y | ND | 44 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 1 | | 73 | 11778 | m.11778G\>A | G11778A\-F17 | G11778A\-F17\-II9 | Fam | M | N | Y | ND | 35 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 1 | | 74 | 11778 | m.11778G\>A | G11778A\-F18 | G11778A\-F18\-P1 | Fam | M | Y | Y | ND | 28 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 4 | | 75 | 11778 | m.11778G\>A | G11778A\-F19 | G11778A\-F19\-II1 | Fam | M | Y | Y | ND | 16 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 5 | | 76 | 11778 | m.11778G\>A | G11778A\-F19 | G11778A\-F19\-II2 | Fam | M | N | Y | ND | 17 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 5 | | 77 | 11778 | m.11778G\>A | G11778A\-F20 | G11778A\-F20\-II1 | Fam | M | Y | Y | ND | 24 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 6 | | 78 | 11778 | m.11778G\>A | G11778A\-F20 | G11778A\-F20\-II2 | Fam | M | N | Y | ND | 17 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 6 | | 79 | 11778 | m.11778G\>A | G11778A\-F21 | G11778A\-F21\-P1 | Fam | M | Y | Y | ND | 32 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 8 | | 80 | 11778 | m.11778G\>A | G11778A\-F22 | G11778A\-F22\-P1 | Fam | M | Y | Y | ND | 18 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 9 | | 81 | 11778 | m.11778G\>A | G11778A\-F23 | G11778A\-F23\-P1 | Fam | M | Y | Y | ND | 18 | Heteroplasmic | / | / | / | LHON; visual loss | Original carrier identifier: Case 10 | | 82 | 11778 | m.11778G\>A | G11778A\-F24 | G11778A\-F24\-P1 | Fam | M | Y | Y | ND | 25 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 11 | | 83 | 11778 | m.11778G\>A | G11778A\-F25 | G11778A\-F25\-P1 | Fam | M | Y | Y | ND | 28 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 12 | | 84 | 11778 | m.11778G\>A | G11778A\-F26 | G11778A\-F26\-II1 | Fam | M | Y | Y | ND | 15 | Heteroplasmic | / | / | / | LHON; visual loss | Original carrier identifier: Case 13 | | 85 | 11778 | m.11778G\>A | G11778A\-F26 | G11778A\-F26\-II2 | Fam | M | N | Y | ND | 10 | Heteroplasmic | / | / | / | LHON; visual loss | Original carrier identifier: Case 13 | | 86 | 11778 | m.11778G\>A | G11778A\-F27 | G11778A\-F27\-P1 | Fam | F | Y | Y | ND | 25 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 15 | | 87 | 11778 | m.11778G\>A | G11778A\-F28 | G11778A\-F28\-P1 | Fam | M | Y | Y | ND | 8 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 16 | | 88 | 11778 | m.11778G\>A | G11778A\-F29 | G11778A\-F29\-II1 | Fam | M | Y | Y | ND | 34 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 18 | | 89 | 11778 | m.11778G\>A | G11778A\-F29 | G11778A\-F29\-II2 | Fam | F | N | Y | ND | 24 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 18 | | 90 | 11778 | m.11778G\>A | G11778A\-F30 | G11778A\-F30\-P1 | Fam | M | Y | Y | ND | 21 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 19 | | 91 | 11778 | m.11778G\>A | G11778A\-F31 | G11778A\-F31\-P1 | Fam | M | Y | Y | ND | 26 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 21 | | 92 | 11778 | m.11778G\>A | G11778A\-F32 | G11778A\-F32\-P1 | Fam | F | Y | Y | ND | 28 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 25 | | 93 | 11778 | m.11778G\>A | G11778A\-F33 | G11778A\-F33\-II1 | Fam | M | Y | Y | ND | 23 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 26 | | 94 | 11778 | m.11778G\>A | G11778A\-F33 | G11778A\-F33\-II2 | Fam | M | N | Y | ND | 30 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 26 | | 95 | 11778 | m.11778G\>A | G11778A\-F33 | G11778A\-F33\-II3 | Fam | M | N | Y | ND | 15 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 26 | | 96 | 11778 | m.11778G\>A | G11778A\-F34 | G11778A\-F34\-II1 | Fam | M | Y | Y | ND | 60 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 30 | | 97 | 11778 | m.11778G\>A | G11778A\-F34 | G11778A\-F34\-II2 | Fam | M | N | Y | ND | 51 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 30 | | 98 | 11778 | m.11778G\>A | G11778A\-F34 | G11778A\-F34\-II3 | Fam | M | N | Y | ND | 25 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 30 | | 99 | 11778 | m.11778G\>A | G11778A\-F35 | G11778A\-F35\-P1 | Fam | M | Y | Y | ND | 20 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 31 | | 100 | 11778 | m.11778G\>A | G11778A\-F36 | G11778A\-F36\-P1 | Fam | M | Y | Y | ND | 58 | Heteroplasmic | / | / | / | LHON; visual loss | Original carrier identifier: Case 35 | | 101 | 11778 | m.11778G\>A | G11778A\-F37 | G11778A\-F37\-II1 | Fam | M | Y | Y | ND | 54 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 36 | | 102 | 11778 | m.11778G\>A | G11778A\-F37 | G11778A\-F37\-II2 | Fam | M | N | Y | ND | 19 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 36 | | 103 | 11778 | m.11778G\>A | G11778A\-F38 | G11778A\-F38\-P1 | Fam | M | Y | Y | ND | 34 | Heteroplasmic | / | / | / | LHON; visual loss | Original carrier identifier: Case 37 | | 104 | 11778 | m.11778G\>A | G11778A\-F39 | G11778A\-F39\-P1 | Fam | M | Y | Y | ND | 18 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 38 | | 105 | 11778 | m.11778G\>A | G11778A\-F40 | G11778A\-F40\-P1 | Fam | M | Y | Y | ND | 20 | Heteroplasmic | / | / | / | LHON; visual loss | Original carrier identifier: Case 39 | | 106 | 11778 | m.11778G\>A | G11778A\-F41 | G11778A\-F41\-II1 | Fam | M | Y | Y | ND | 12 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 40 | | 107 | 11778 | m.11778G\>A | G11778A\-F41 | G11778A\-F41\-II2 | Fam | M | N | Y | ND | 23 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 40 | | 108 | 11778 | m.11778G\>A | G11778A\-F42 | G11778A\-F42\-II1 | Fam | F | Y | Y | ND | 9 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 44 | | 109 | 11778 | m.11778G\>A | G11778A\-F42 | G11778A\-F42\-II2 | Fam | F | N | Y | ND | 37 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 44 | | 110 | 11778 | m.11778G\>A | G11778A\-F42 | G11778A\-F42\-II3 | Fam | M | N | Y | ND | 37 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 44 | | 111 | 11778 | m.11778G\>A | G11778A\-F42 | G11778A\-F42\-II4 | Fam | F | N | Y | ND | 31 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 44 | | 112 | 11778 | m.11778G\>A | G11778A\-F43 | G11778A\-F43\-P1 | Fam | M | Y | Y | ND | 14 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 47 | | 113 | 11778 | m.11778G\>A | G11778A\-F44 | G11778A\-F44\-II1 | Fam | M | Y | Y | ND | 18 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 49 | | 114 | 11778 | m.11778G\>A | G11778A\-F44 | G11778A\-F44\-II2 | Fam | M | N | Y | ND | 20 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 49 | | 115 | 11778 | m.11778G\>A | G11778A\-F44 | G11778A\-F44\-II3 | Fam | M | N | Y | ND | 60 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 49 | | 116 | 11778 | m.11778G\>A | G11778A\-F44 | G11778A\-F44\-II4 | Fam | F | N | Y | ND | 47 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 49 | | 117 | 11778 | m.11778G\>A | G11778A\-F45 | G11778A\-F45\-P1 | Fam | M | Y | Y | ND | 18 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 55 | | 118 | 11778 | m.11778G\>A | G11778A\-F46 | G11778A\-F46\-II1 | Fam | M | Y | Y | ND | 30 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 58 | | 119 | 11778 | m.11778G\>A | G11778A\-F46 | G11778A\-F46\-II2 | Fam | F | N | Y | ND | 29 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 58 | | 120 | 11778 | m.11778G\>A | G11778A\-F47 | G11778A\-F47\-P1 | Fam | M | Y | Y | ND | 12 | Heteroplasmic | / | / | / | LHON; visual loss | Original carrier identifier: Case 60 | | 121 | 11778 | m.11778G\>A | G11778A\-F48 | G11778A\-F48\-P1 | Fam | M | Y | Y | ND | 23 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 64 | | 122 | 11778 | m.11778G\>A | G11778A\-F49 | G11778A\-F49\-P1 | Fam | M | Y | Y | ND | 21 | Heteroplasmic | / | / | / | LHON; visual loss | Original carrier identifier: Case 65 | | 123 | 11778 | m.11778G\>A | G11778A\-F50 | G11778A\-F50\-P1 | Fam | M | Y | Y | ND | 24 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 67 | | 124 | 11778 | m.11778G\>A | G11778A\-F51 | G11778A\-F51\-II1 | Fam | M | Y | Y | ND | 17 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 70 | | 125 | 11778 | m.11778G\>A | G11778A\-F51 | G11778A\-F51\-II2 | Fam | M | N | Y | ND | 21 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 70 | | 126 | 11778 | m.11778G\>A | G11778A\-F51 | G11778A\-F51\-II3 | Fam | M | N | Y | ND | 20 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 70 | | 127 | 11778 | m.11778G\>A | G11778A\-F52 | G11778A\-F52\-P1 | Fam | F | Y | Y | ND | 54 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 71 | | 128 | 11778 | m.11778G\>A | G11778A\-F53 | G11778A\-F53\-P1 | Fam | M | Y | Y | ND | 16 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 72 | | 129 | 11778 | m.11778G\>A | G11778A\-F54 | G11778A\-F54\-P1 | Fam | M | Y | Y | ND | 50 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 73 | | 130 | 11778 | m.11778G\>A | G11778A\-F55 | G11778A\-F55\-II1 | Fam | F | Y | Y | ND | 19 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 74 | | 131 | 11778 | m.11778G\>A | G11778A\-F55 | G11778A\-F55\-II2 | Fam | M | N | Y | ND | 19 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 74 | | 132 | 11778 | m.11778G\>A | G11778A\-F56 | G11778A\-F56\-II1 | Fam | M | Y | Y | ND | 35 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 75 | | 133 | 11778 | m.11778G\>A | G11778A\-F56 | G11778A\-F56\-II2 | Fam | M | N | Y | ND | 50 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 75 | | 134 | 11778 | m.11778G\>A | G11778A\-F57 | G11778A\-F57\-P1 | Fam | M | Y | Y | ND | 10 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 76 | | 135 | 11778 | m.11778G\>A | G11778A\-F58 | G11778A\-F58\-P1 | Fam | M | Y | Y | ND | 28 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 77 | | 136 | 11778 | m.11778G\>A | G11778A\-F59 | G11778A\-F59\-P1 | Fam | M | Y | Y | ND | 15 | Homo | / | / | / | LHON; visual loss | Original carrier identifier: Case 78 | | 137 | 11778 | m.11778G\>A | G11778A\-F60 | G11778A\-F60\-P1 | Fam | M | Y | Y | ND | ND | Homo | / | / | / | LHON | Original carrier identifier: Figure 1 lane 1 | | 138 | 11778 | m.11778G\>A | G11778A\-F61 | G11778A\-F61\-II1 | Fam | F | N | N | ND | ND | 65% | / | / | / | Healthy | Original carrier identifier: Figure 1 lane 3 | | 139 | 11778 | m.11778G\>A | G11778A\-F61 | G11778A\-F61\-II2 | Fam | M | Y | Y | ND | ND | Homo | / | / | / | LHON | Original carrier identifier: Figure 1 lane 4 | | 140 | 11778 | m.11778G\>A | G11778A\-F61 | G11778A\-F61\-II3 | Fam | F | N | N | ND | ND | 93% | / | / | / | Healthy | Original carrier identifier: Figure 1 lane 5 | | 141 | 11778 | m.11778G\>A | G11778A\-F61 | G11778A\-F61\-II4 | Fam | M | N | N | ND | ND | Homo | / | / | / | Healthy | Original carrier identifier: Figure 1 lane 6 | | 142 | 11778 | m.11778G\>A | G11778A\-F61 | G11778A\-F61\-II5 | Fam | F | N | N | ND | ND | 64% | / | / | / | Healthy | Original carrier identifier: Figure 1 lane 7 | | 143 | 11778 | m.11778G\>A | G11778A\-F62 | G11778A\-F62\-P1 | Fam | F | Y | Y | ND | ND | 71% | / | / | / | LHON | Original carrier identifier: Figure 1 lane 8 | | 144 | 11778 | m.11778G\>A | G11778A\-F63 | G11778A\-F63\-II1 | Fam | F | N | N | ND | ND | 42% | / | / | / | Healthy | Original carrier identifier: Figure 1 lane 9 | | 145 | 11778 | m.11778G\>A | G11778A\-F63 | G11778A\-F63\-II2 | Fam | F | N | N | ND | ND | 59% | / | / | / | Healthy | Original carrier identifier: Figure 1 lane 10 | | 146 | 11778 | m.11778G\>A | G11778A\-F63 | G11778A\-F63\-II3 | Fam | M | Y | Y | ND | ND | 75% | / | / | / | LHON | Original carrier identifier: Figure 1 lane 11 | | 147 | 11778 | m.11778G\>A | G11778A\-F64 | G11778A\-F64\-P1 | Fam | M | Y | Y | ND | ND | Homo | / | / | / | LHON | Original carrier identifier: Figure 1 lane 12 | | 148 | 11778 | m.11778G\>A | G11778A\-F65 | G11778A\-F65\-P1 | Fam | M | Y | Y | ND | ND | Heteroplasmic; predominantly mutant | / | / | Heteroplasmic; mutant minority (H) | LHON | Original carrier identifier: Figure 4 lanes 3\-4 | | 149 | 11778 | m.11778G\>A | G11778A\-F66 | G11778A\-F66\-P1 | Fam | M | Y | Y | ND | ND | Heteroplasmic; predominantly mutant | / | / | Heteroplasmic; predominantly wild type (H) | LHON | Original carrier identifier: Figure 5 lanes 1\-2 | | 150 | 11778 | m.11778G\>A | G11778A\-F67 | G11778A\-F67\-P1 | Fam | M | Y | Y | ND | ND | Heteroplasmic; predominantly mutant | / | / | Heteroplasmic; predominantly mutant (H) | LHON | Original carrier identifier: Figure 5 lanes 3\-4 | | 151 | 11778 | m.11778G\>A | G11778A\-F68 | G11778A\-F68\-II1 | Fam | F | N | N | A | ND | 60% | / | / | / | Healthy | Original carrier identifier: Fig | | 152 | 11778 | m.11778G\>A | G11778A\-F68 | G11778A\-F68\-II2 | Fam | F | N | N | A | ND | 55% | / | / | / | Healthy | Original carrier identifier: Fig | | 153 | 11778 | m.11778G\>A | G11778A\-F68 | G11778A\-F68\-II3 | Fam | M | Y | Y | A | ND | \>95% | / | / | / | Severe visual loss; visual acuity 0\.125/0\.02 | Original carrier identifier: son 1 | | 154 | 11778 | m.11778G\>A | G11778A\-F68 | G11778A\-F68\-II4 | Fam | M | N | Y | A | ND | \>95% | / | / | / | Severe visual loss; visual acuity 0\.02/0\.02 | Original carrier identifier: son 2 | | 155 | 11778 | m.11778G\>A | G11778A\-F69 | G11778A\-F69\-II1 | Fam | M | Y | Y | A | ND | / | / | / | / | LHON | Original carrier identifier: proband arrow in figure | | 156 | 11778 | m.11778G\>A | G11778A\-F69 | G11778A\-F69\-II2 | Fam | F | N | Y | A | ND | / | / | / | / | LHON; affected maternal member | Original carrier identifier: filled female symbol in pedigree | | 157 | 11778 | m.11778G\>A | G11778A\-F70 | G11778A\-F70\-II1 | Fam | ND | Y | Y | A | ND | / | / | / | / | LHON phenotype | Original carrier identifier: GaP1 | | 158 | 11778 | m.11778G\>A | G11778A\-F70 | G11778A\-F70\-II2 | Fam | ND | N | Y | A | ND | / | / | / | / | LHON phenotype | Original carrier identifier: GaP2 | | 159 | 11778 | m.11778G\>A | G11778A\-F71 | G11778A\-F71\-P1 | Fam | ND | Y | Y | A | ND | / | / | / | / | LHON phenotype | Original carrier identifier: E1P | | 160 | 11778 | m.11778G\>A | G11778A\-F72 | G11778A\-F72\-P1 | Fam | ND | Y | Y | A | ND | / | / | / | / | LHON phenotype | Original carrier identifier: E2P | | 161 | 11778 | m.11778G\>A | G11778A\-F73 | G11778A\-F73\-II1 | Fam | F | Y | Y | ND | 66 | \>95% | / | / | / | LHON; visual loss | Original carrier identifier: Family A case 1 | | 162 | 11778 | m.11778G\>A | G11778A\-F73 | G11778A\-F73\-II2 | Fam | M | N | Y | ND | 41 | \>95% | / | / | / | LHON; visual loss | Original carrier identifier: Family A case 2 | | 163 | 11778 | m.11778G\>A | G11778A\-F73 | G11778A\-F73\-II3 | Fam | F | N | N | ND | 63 | \>95% | / | / | / | Healthy | Original carrier identifier: Family A case 3 | | 164 | 11778 | m.11778G\>A | G11778A\-F73 | G11778A\-F73\-II4 | Fam | M | N | N | ND | 32 | \>95% | / | / | / | Healthy | Original carrier identifier: Family A case 4 | | 165 | 11778 | m.11778G\>A | G11778A\-F74 | G11778A\-F74\-P1 | Fam | F | Y | Y | ND | 25 | \>95% | / | / | / | LHON; visual loss | Original carrier identifier: Family B case 5 | | 166 | 11778 | m.11778G\>A | G11778A\-F75 | G11778A\-F75\-P1 | Fam | M | Y | Y | ND | 19 | 100% | / | / | / | LHON; visual loss | Original carrier identifier: Family C case 6 | | 167 | 11778 | m.11778G\>A | G11778A\-F76 | G11778A\-F76\-II1 | Fam | F | N | N | ND | 66 | \>95% | / | / | / | Healthy | Original carrier identifier: Family E case 8 | | 168 | 11778 | m.11778G\>A | G11778A\-F76 | G11778A\-F76\-III1 | Fam | M | Y | Y | ND | 32 | \>95% | / | / | / | LHON; visual loss | Original carrier identifier: Family E case 9 | | 169 | 11778 | m.11778G\>A | G11778A\-F76 | G11778A\-F76\-III2 | Fam | M | N | N | ND | 30 | \>95% | / | / | / | Healthy | Original carrier identifier: Family E case 10 | | 170 | 11778 | m.11778G\>A | G11778A\-F76 | G11778A\-F76\-III3 | Fam | M | N | N | ND | 28 | \>95% | / | / | / | Healthy | Original carrier identifier: Family E case 11 | | 171 | 11778 | m.11778G\>A | G11778A\-F76 | G11778A\-F76\-III4 | Fam | M | N | N | ND | 27 | 77% | / | / | / | Healthy | Original carrier identifier: Family E case 12 | | 172 | 11778 | m.11778G\>A | G11778A\-F76 | G11778A\-F76\-III5 | Fam | F | N | N | ND | 24 | \>95% | / | / | / | Healthy | Original carrier identifier: Family E case 13 | | 173 | 11778 | m.11778G\>A | G11778A\-F76 | G11778A\-F76\-II2 | Fam | F | N | N | ND | 60 | 97% | / | / | / | Healthy | Original carrier identifier: Family E case 14 | | 174 | 11778 | m.11778G\>A | G11778A\-F76 | G11778A\-F76\-III6 | Fam | M | N | Y | ND | 23 | 96% | / | / | / | LHON; visual loss | Original carrier identifier: Family E case 15 | | 175 | 11778 | m.11778G\>A | G11778A\-F76 | G11778A\-F76\-II3 | Fam | F | N | N | ND | 56 | 79% | / | / | / | Healthy | Original carrier identifier: Family E case 16 | | 176 | 11778 | m.11778G\>A | G11778A\-F76 | G11778A\-F76\-III7 | Fam | M | N | N | ND | 22 | 68% | / | / | / | Healthy | Original carrier identifier: Family E case 17 | | 177 | 11778 | m.11778G\>A | G11778A\-F77 | G11778A\-F77\-II1 | Fam | M | Y | Y | ND | ND | Homo | / | / | / | LHON with optic atrophy | Original carrier identifier: blind proband in Figure 3 | | 178 | 11778 | m.11778G\>A | G11778A\-F77 | G11778A\-F77\-II2 | Fam | F | N | N | ND | ND | Homo | / | / | / | Peripapillary microangiopathy | | | 179 | 11778 | m.11778G\>A | G11778A\-F78 | G11778A\-F78\-II1 | Fam | M | N | Y | A | 35 | / | / | / | / | LHON, visual loss, optic atrophy, hyposmia, reduced taste, numbness | | | 180 | 11778 | m.11778G\>A | G11778A\-F78 | G11778A\-F78\-II2 | Fam | M | Y | Y | A | 32 | / | / | / | / | LHON, visual loss, centrocecal scotoma, optic nerve fiber bundle defect | | | 181 | 11778 | m.11778G\>A | G11778A\-F78 | G11778A\-F78\-II3 | Fam | F | N | ND | A | 24 | / | / | / | / | ND | | | 182 | 11778 | m.11778G\>A | G11778A\-F79 | G11778A\-F79\-VIII1 | Fam | ND | Y | Y | ND | ND | / | / | / | Homo(ND) | LHON | Original carrier identifier: FinnishPed1 | | 183 | 11778 | m.11778G\>A | G11778A\-F80 | G11778A\-F80\-P1 | Fam | ND | Y | Y | ND | ND | / | / | / | Homo(ND) | LHON | Original carrier identifier: FinnishPed2 | | 184 | 11778 | m.11778G\>A | G11778A\-F81 | G11778A\-F81\-P1 | Fam | ND | Y | Y | ND | ND | / | / | / | Homo(ND) | LHON | Original carrier identifier: FinnishPed3 | | 185 | 11778 | m.11778G\>A | G11778A\-F82 | G11778A\-F82\-II1 | Fam | ND | N | Y | ND | ND | / | / | / | Homo(ND) | LHON | | | 186 | 11778 | m.11778G\>A | G11778A\-F82 | G11778A\-F82\-III1 | Fam | ND | Y | Y | ND | ND | / | / | / | Homo(ND) | LHON | | | 187 | 11778 | m.11778G\>A | G11778A\-F83 | G11778A\-F83\-P1 | Fam | M | Y | Y | ND | ND | / | / | / | Homo(ND) | LHON | Original carrier identifier: MDPed1 | | 188 | 11778 | m.11778G\>A | G11778A\-F84 | G11778A\-F84\-II1 | Fam | F | N | N | ND | ND | \>95% | / | / | / | Healthy | | | 189 | 11778 | m.11778G\>A | G11778A\-F84 | G11778A\-F84\-II2 | Fam | F | N | N | ND | ND | 65% | / | / | / | Healthy | | | 190 | 11778 | m.11778G\>A | G11778A\-F84 | G11778A\-F84\-II3 | Fam | F | N | N | ND | ND | \>95% | / | / | / | Healthy | | | 191 | 11778 | m.11778G\>A | G11778A\-F84 | G11778A\-F84\-II4 | Fam | M | Y | Y | ND | ND | \>95% | / | / | / | LHON visual loss | | | 192 | 11778 | m.11778G\>A | G11778A\-F85 | G11778A\-F85\-II1 | Fam | F | Y | Y | ND | ND | \>95% | / | / | / | LHON visual loss | | | 193 | 11778 | m.11778G\>A | G11778A\-F85 | G11778A\-F85\-II2 | Fam | M | N | N | ND | ND | 90% | / | / | / | Healthy | | | 194 | 11778 | m.11778G\>A | G11778A\-F85 | G11778A\-F85\-II3 | Fam | M | N | N | ND | ND | \>95% | / | / | / | Healthy | | | 195 | 11778 | m.11778G\>A | G11778A\-F86 | G11778A\-F86\-II1 | Fam | F | N | N | ND | ND | 50% | / | / | / | Healthy | | | 196 | 11778 | m.11778G\>A | G11778A\-F86 | G11778A\-F86\-II2 | Fam | F | N | N | ND | ND | 45% | / | / | / | Healthy | | | 197 | 11778 | m.11778G\>A | G11778A\-F86 | G11778A\-F86\-II3 | Fam | M | Y | Y | ND | ND | \>95% | / | / | / | LHON visual loss | | | 198 | 11778 | m.11778G\>A | G11778A\-F86 | G11778A\-F86\-II4 | Fam | M | N | Y | ND | ND | \>95% | / | / | / | LHON visual loss | | | 199 | 11778 | m.11778G\>A | G11778A\-F86 | G11778A\-F86\-II5 | Fam | M | N | N | ND | ND | \>95% | / | / | / | Healthy | | | 200 | 11778 | m.11778G\>A | G11778A\-F86 | G11778A\-F86\-II6 | Fam | F | N | N | ND | ND | 30% | / | / | / | Healthy | | | 201 | 11778 | m.11778G\>A | G11778A\-F87 | G11778A\-F87\-II1 | Fam | F | N | N | ND | ND | \>95% | / | / | / | Healthy | Coexisting variant: Coexisting mutation\-load note: Figure 3 family 18 top\-left female. Additional mutation: m.14484T\>C at about 30% mutant mtDNA | | 202 | 11778 | m.11778G\>A | G11778A\-F87 | G11778A\-F87\-II2 | Fam | M | Y | Y | ND | ND | \>95% | / | / | / | LHON visual loss | Coexisting variant: Coexisting mutation load: m.14484T\>C about 70% mutant mtDNA | | 203 | 11778 | m.11778G\>A | G11778A\-F88 | G11778A\-F88\-I1 | Uninf | F | N | N | ND | ND | \>95% | / | / | same degree as blood(Hair and urinary tract epithelium); exact class in Fig 1\. | Healthy | | | 204 | 11778 | m.11778G\>A | G11778A\-F88 | G11778A\-F88\-II1 | Fam | F | N | N | ND | ND | \>95% | / | / | same degree as blood(Hair and urinary tract epithelium); exact class in Fig 1\. | Healthy | | | 205 | 11778 | m.11778G\>A | G11778A\-F88 | G11778A\-F88\-II2 | Fam | F | N | N | ND | ND | 75\-95% | / | / | same degree as blood(Hair and urinary tract epithelium); exact class in Fig 1\. | Healthy | | | 206 | 11778 | m.11778G\>A | G11778A\-F88 | G11778A\-F88\-II3 | Fam | M | N | N | ND | ND | 50\-75% | / | / | same degree as blood(Hair and urinary tract epithelium); exact class in Fig 1\. | Healthy | | | 207 | 11778 | m.11778G\>A | G11778A\-F88 | G11778A\-F88\-II4 | Fam | F | N | N | ND | ND | \>95% | / | / | same degree as blood(Hair and urinary tract epithelium); exact class in Fig 1\. | Healthy | | | 208 | 11778 | m.11778G\>A | G11778A\-F88 | G11778A\-F88\-II5 | Fam | M | N | N | ND | ND | 50\-75% | / | / | same degree as blood(Hair and urinary tract epithelium); exact class in Fig 1\. | Healthy | | | 209 | 11778 | m.11778G\>A | G11778A\-F88 | G11778A\-F88\-II6 | Fam | F | N | N | ND | ND | 75\-95% | / | / | same degree as blood(Hair and urinary tract epithelium); exact class in Fig 1\. | Healthy | | | 210 | 11778 | m.11778G\>A | G11778A\-F88 | G11778A\-F88\-III1 | Fam | M | N | N | ND | ND | \>95% | / | / | same degree as blood(Hair and urinary tract epithelium); exact class in Fig 1\. | Healthy | | | 211 | 11778 | m.11778G\>A | G11778A\-F88 | G11778A\-F88\-III2 | Fam | F | N | N | ND | ND | 75\-95% | / | / | same degree as blood(Hair and urinary tract epithelium); exact class in Fig 1\. | Healthy | | | 212 | 11778 | m.11778G\>A | G11778A\-F88 | G11778A\-F88\-III3 | Fam | F | N | N | ND | ND | 75\-95% | / | / | same degree as blood(Hair and urinary tract epithelium); exact class in Fig 1\. | Healthy | | | 213 | 11778 | m.11778G\>A | G11778A\-F88 | G11778A\-F88\-III4 | Fam | F | N | N | ND | ND | \>95% | / | / | same degree as blood(Hair and urinary tract epithelium); exact class in Fig 1\. | Healthy | | | 214 | 11778 | m.11778G\>A | G11778A\-F88 | G11778A\-F88\-III5 | Fam | M | N | N | ND | ND | 75\-95% | / | / | same degree as blood(Hair and urinary tract epithelium); exact class in Fig 1\. | Healthy | | | 215 | 11778 | m.11778G\>A | G11778A\-F88 | G11778A\-F88\-III6 | Fam | F | N | N | ND | ND | 75\-95% | / | / | same degree as blood(Hair and urinary tract epithelium); exact class in Fig 1\. | Healthy | | | 216 | 11778 | m.11778G\>A | G11778A\-F88 | G11778A\-F88\-II7 | Fam | M | Y | Y | ND | ND | Homo | / | / | same degree as blood(Hair and urinary tract epithelium); exact class in Fig 1\. | LHON | Original carrier identifier: II\-a | | 217 | 11778 | m.11778G\>A | G11778A\-F88 | G11778A\-F88\-III7 | Fam | M | N | Y | ND | ND | Homo | / | / | same degree as blood(Hair and urinary tract epithelium); exact class in Fig 1\. | LHON | Original carrier identifier: III\-b | | 218 | 11778 | m.11778G\>A | G11778A\-F88 | G11778A\-F88\-III8 | Fam | M | N | Y | ND | ND | Homo | / | / | same degree as blood(Hair and urinary tract epithelium); exact class in Fig 1\. | LHON | Original carrier identifier: III\-c | | 219 | 11778 | m.11778G\>A | G11778A\-F89 | G11778A\-F89\-P1 | Uninf | F | Y | Y | A | ND | / | / | / | / | LHON with multiple sclerosis\-like illness; bilateral optic neuropathy; gait difficulty | Original ID: Patient 2 | | 220 | 11778 | m.11778G\>A | G11778A\-F90 | G11778A\-F90\-II1 | Fam | M | Y | Y | A | 44 | Homo | / | / | / | LHON with MS\-like disorder; bilateral visual loss; central scotomas; motor and sensory symptoms | Original carrier identifier: VIII\-8, proband marked with arrow in Fig | | 221 | 11778 | m.11778G\>A | G11778A\-F90 | G11778A\-F90\-II2 | Fam | ND | N | ND | ND | ND | Homo | / | / | / | Maternal relative; clinical status not individually mapped | Original carrier identifier: Fig | | 222 | 11778 | m.11778G\>A | G11778A\-F90 | G11778A\-F90\-II3 | Fam | ND | N | ND | ND | ND | Homo | / | / | / | Maternal relative; clinical status not individually mapped | Original carrier identifier: Fig | | 223 | 11778 | m.11778G\>A | G11778A\-F90 | G11778A\-F90\-II4 | Fam | ND | N | ND | ND | ND | Homo | / | / | / | Maternal relative; clinical status not individually mapped | Original carrier identifier: Fig | | 224 | 11778 | m.11778G\>A | G11778A\-F91 | G11778A\-F91\-I1 | Uninf | F | N | N | A | 36 | / | / | / | Heteroplasmic(F) | Healthy | Original carrier identifier: subject E | | 225 | 11778 | m.11778G\>A | G11778A\-F91 | G11778A\-F91\-II1 | Fam | M | Y | Y | A | 8 | / | / | / | Heteroplasmic(F) | LHON | Original carrier identifier: subject F, affected son of subject E | | 226 | 11778 | m.11778G\>A | G11778A\-F92 | G11778A\-F92\-I1 | Uninf | F | Y | Y | ND | 62 | / | / | / | / | LHON; cerebellar ataxia; cerebellar atrophy; dysarthria; gait disturbance | Original carrier identifier: patient 1 | | 227 | 11778 | m.11778G\>A | G11778A\-F92 | G11778A\-F92\-II1 | Fam | M | N | Y | ND | 36 | / | / | / | / | LHON; cerebellar ataxia; dysarthria; cerebellar atrophy | Original carrier identifier: patient 2, oldest son of patient 1 | | 228 | 11778 | m.11778G\>A | G11778A\-F93 | G11778A\-F93\-II1 | Fam | F | Y | Y | A | 19 | / | / | / | / | Bilateral optic nerve disease; bilateral cecocentral scotomas; optic disk pallor | Original carrier identifier: index case | | 229 | 11778 | m.11778G\>A | G11778A\-F93 | G11778A\-F93\-I1 | Uninf | F | N | N | A | ND | / | / | / | / | Healthy | | | 230 | 11778 | m.11778G\>A | G11778A\-F93 | G11778A\-F93\-II2 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | | | 231 | 11778 | m.11778G\>A | G11778A\-F94 | G11778A\-F94\-P1 | Uninf | M | Y | Y | A | 16 | Homo | / | / | / | LHON, bilateral visual loss, central scotoma, optic atrophy, visual recovery | Original carrier identifier: index case | | 232 | 11778 | m.11778G\>A | G11778A\-F95 | G11778A\-F95\-P1 | Uninf | M | Y | Y | ND | 30 | / | / | / | / | Bilateral simultaneous optic neuropathy; LHON | Original ID: Patient No | | 233 | 11778 | m.11778G\>A | G11778A\-F96 | G11778A\-F96\-P1 | Uninf | M | Y | Y | ND | 54 | / | / | / | / | Bilateral simultaneous optic neuropathy; LHON | Original ID: Patient No | | 234 | 11778 | m.11778G\>A | G11778A\-F97 | G11778A\-F97\-P1 | Uninf | M | Y | Y | ND | 18 | / | / | / | / | Bilateral simultaneous optic neuropathy; LHON | Original ID: Patient No | | 235 | 11778 | m.11778G\>A | G11778A\-F98 | G11778A\-F98\-P1 | Uninf | ND | Y | Y | A | ND | Heteroplasmic | / | / | / | LHON; acute/subacute visual loss with bilateral optic atrophy | | | 236 | 11778 | m.11778G\>A | G11778A\-F99 | G11778A\-F99\-P1 | Uninf | ND | Y | Y | A | ND | Homo | / | / | / | LHON; acute/subacute visual loss with bilateral optic atrophy | | | 237 | 11778 | m.11778G\>A | G11778A\-F100 | G11778A\-F100\-I1 | Uninf | F | N | N | A | ND | Homo | / | / | / | Healthy | | | 238 | 11778 | m.11778G\>A | G11778A\-F100 | G11778A\-F100\-II1 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | | | 239 | 11778 | m.11778G\>A | G11778A\-F100 | G11778A\-F100\-II2 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | | | 240 | 11778 | m.11778G\>A | G11778A\-F100 | G11778A\-F100\-III1 | Fam | M | Y | Y | A | ND | Homo | / | / | / | LHON; clinically affected | | | 241 | 11778 | m.11778G\>A | G11778A\-F100 | G11778A\-F100\-III2 | Fam | M | N | Y | A | ND | Homo | / | / | / | LHON; clinically affected | | | 242 | 11778 | m.11778G\>A | G11778A\-F101 | G11778A\-F101\-I1 | Uninf | F | Y | Y | D | 38 | 33% | 100% | / | 95%(optic nerve); 100%(retina); 100%(sclera); 95%(oculomotor muscle); 97%(heart muscle) | LHON; bilateral visual loss | | | 243 | 11778 | m.11778G\>A | G11778A\-F101 | G11778A\-F101\-II1 | Fam | M | N | Y | A | 23 | Heteroplasmic | / | / | / | LHON; visual loss | | | 244 | 11778 | m.11778G\>A | G11778A\-F102 | G11778A\-F102\-P1 | Fam | M | Y | N | A | 46 | 80% mutant | / | / | / | No visual symptoms; circumpapillary telangiectatic microangiopathy | | | 245 | 11778 | m.11778G\>A | G11778A\-F103 | G11778A\-F103\-P1 | Uninf | ND | Y | Y | ND | ND | 57% mutant | / | / | / | LHON | Original ID: Patient used | | 246 | 11778 | m.11778G\>A | G11778A\-F104 | G11778A\-F104\-P1 | Uninf | F | Y | Y | A | 35 | / | / | / | / | LHON/MS\-like illness, bilateral optic atrophy, central scotomas, relapsing visual loss | Original ID: Patient 1 | | 247 | 11778 | m.11778G\>A | G11778A\-F105 | G11778A\-F105\-III1 | Fam | M | N | Y | ND | 49 | Heteroplasmic | / | / | / | LHON; bilateral optic neuropathy; central scotomas; optic atrophy | | | 248 | 11778 | m.11778G\>A | G11778A\-F105 | G11778A\-F105\-III2 | Fam | F | N | N | ND | 52 | Heteroplasmic | / | / | / | Healthy | | | 249 | 11778 | m.11778G\>A | G11778A\-F105 | G11778A\-F105\-III3 | Fam | F | N | N | ND | 46 | Heteroplasmic | / | / | / | Healthy | | | 250 | 11778 | m.11778G\>A | G11778A\-F105 | G11778A\-F105\-III4 | Fam | M | N | N | ND | 41 | Heteroplasmic | / | / | / | Healthy | | | 251 | 11778 | m.11778G\>A | G11778A\-F105 | G11778A\-F105\-III5 | Fam | F | N | N | ND | 36 | Heteroplasmic | / | / | / | Healthy | | | 252 | 11778 | m.11778G\>A | G11778A\-F105 | G11778A\-F105\-IV1 | Fam | M | N | N | ND | 40 | Heteroplasmic | / | / | / | Healthy | | | 253 | 11778 | m.11778G\>A | G11778A\-F105 | G11778A\-F105\-IV2 | Fam | M | N | N | ND | 39 | Heteroplasmic | / | / | / | Healthy | | | 254 | 11778 | m.11778G\>A | G11778A\-F105 | G11778A\-F105\-IV3 | Fam | M | Y | Y | ND | 35 | Homo | / | / | / | LHON; bilateral central visual loss; counting fingers; optic disk pallor; pseudoedema; telangiectasias; vascular tortuosity | | | 255 | 11778 | m.11778G\>A | G11778A\-F106 | G11778A\-F106\-II1 | Fam | M | Y | Y | A | 19 | / | / | / | / | DIDMOAD/Wolfram phenotype; diabetes mellitus; optic atrophy; epilepsy; unilateral sensorineural hearing loss | | | 256 | 11778 | m.11778G\>A | G11778A\-F106 | G11778A\-F106\-I1 | Uninf | F | N | ND | A | ND | / | / | / | / | ND | | | 257 | 11778 | m.11778G\>A | G11778A\-F107 | G11778A\-F107\-III1 | Fam | F | N | N | ND | ND | \>95% mutant | / | / | / | Peripapillary microangiopathy | | | 258 | 11778 | m.11778G\>A | G11778A\-F107 | G11778A\-F107\-III2 | Fam | M | N | N | ND | ND | 33% mutant (TRF); 30% mutant (Southern) | / | / | / | No known defect | | | 259 | 11778 | m.11778G\>A | G11778A\-F107 | G11778A\-F107\-III3 | Fam | M | N | N | ND | ND | 11% mutant (TRF); 15% mutant (Southern) | / | / | / | No known defect | | | 260 | 11778 | m.11778G\>A | G11778A\-F107 | G11778A\-F107\-IV1 | Fam | M | N | N | ND | ND | Homo | / | / | / | No known defect | | | 261 | 11778 | m.11778G\>A | G11778A\-F107 | G11778A\-F107\-IV2 | Fam | M | Y | Y | ND | ND | \>95% mutant | / | / | / | Optic atrophy | | | 262 | 11778 | m.11778G\>A | G11778A\-F107 | G11778A\-F107\-V1 | Fam | M | N | N | ND | ND | 36% mutant (TRF); 35% mutant (Southern) | / | / | / | No known defect | | | 263 | 11778 | m.11778G\>A | G11778A\-F107 | G11778A\-F107\-V2 | Fam | M | N | N | ND | ND | 57% mutant (TRF); 60% mutant (Southern) | / | / | / | No known defect | | | 264 | 11778 | m.11778G\>A | G11778A\-F108 | G11778A\-F108\-P1 | Uninf | M | Y | Y | ND | 31 | / | / | / | / | Bilateral cecocentral scotomas; LHON masquerading as tobacco\-alcohol amblyopia | Original ID: Patient 2; Special history/medication: Patient 2; heavy alcohol and tobacco use | | 265 | 11778 | m.11778G\>A | G11778A\-F109 | G11778A\-F109\-II1 | Fam | M | Y | Y | A | 34 | Homo | / | / | / | LHON; severe bilateral visual loss; sensorimotor peripheral neuropathy | | | 266 | 11778 | m.11778G\>A | G11778A\-F109 | G11778A\-F109\-II2 | Fam | M | N | N | A | 41 | Homo | / | / | / | Healthy | | | 267 | 11778 | m.11778G\>A | G11778A\-F110 | G11778A\-F110\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | Bilateral optic atrophy | Original ID: Patient 2 | | 268 | 11778 | m.11778G\>A | G11778A\-F111 | G11778A\-F111\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | Bilateral optic atrophy | Original ID: Patient 5 | | 269 | 11778 | m.11778G\>A | G11778A\-F112 | G11778A\-F112\-P1 | Uninf | F | Y | Y | A | 41 | / | / | / | / | LHON/demyelinating disease, visual loss, right disk pallor, central scotoma, white matter lesions | Original ID: Patient 1 | | 270 | 11778 | m.11778G\>A | G11778A\-F113 | G11778A\-F113\-P1 | Fam | F | Y | Y | A | 43 | / | / | / | / | LHON/demyelinating disease, right optic atrophy, tremor, paraparesis, ataxic gait | Original ID: Patient 2 | | 271 | 11778 | m.11778G\>A | G11778A\-F114 | G11778A\-F114\-II1 | Fam | F | Y | Y | A | 21 | / | / | / | / | LHON/demyelinating disease, painful unilateral then bilateral visual loss, nystagmus, myelopathy, quadriparesis | Original ID: Patient 3 | | 272 | 11778 | m.11778G\>A | G11778A\-F114 | G11778A\-F114\-II2 | Fam | M | N | Y | ND | ND | / | / | / | / | Typical LHON | | | 273 | 11778 | m.11778G\>A | G11778A\-F115 | G11778A\-F115\-II1 | Fam | M | Y | Y | A | 33 | / | / | / | / | LHON/demyelinating disease, acute visual loss, scotoma, optic disk swelling, peripapillary telangiectasias | Original ID: Patient 4, Patient and | | 274 | 11778 | m.11778G\>A | G11778A\-F115 | G11778A\-F115\-II2 | Fam | F | N | ND | ND | ND | / | / | / | / | ND | Original ID: Patient 4 | | 275 | 11778 | m.11778G\>A | G11778A\-F116 | G11778A\-F116\-II1 | Fam | F | N | N | ND | ND | 97% | / | / | / | Microangiopathy | | | 276 | 11778 | m.11778G\>A | G11778A\-F116 | G11778A\-F116\-II2 | Fam | M | N | ND | ND | ND | 30% | / | / | / | ND | | | 277 | 11778 | m.11778G\>A | G11778A\-F116 | G11778A\-F116\-II3 | Fam | M | N | ND | ND | ND | 14% | / | / | / | ND | | | 278 | 11778 | m.11778G\>A | G11778A\-F116 | G11778A\-F116\-III1 | Fam | M | N | ND | ND | ND | Homo | / | / | / | ND | | | 279 | 11778 | m.11778G\>A | G11778A\-F116 | G11778A\-F116\-III2 | Fam | M | Y | Y | ND | ND | 98% | / | / | / | Optic atrophy | | | 280 | 11778 | m.11778G\>A | G11778A\-F116 | G11778A\-F116\-III3 | Fam | F | N | ND | ND | ND | 37% | / | / | / | ND | | | 281 | 11778 | m.11778G\>A | G11778A\-F116 | G11778A\-F116\-IV1 | Fam | M | N | ND | ND | ND | 32% | / | / | / | ND | | | 282 | 11778 | m.11778G\>A | G11778A\-F116 | G11778A\-F116\-IV2 | Fam | M | N | ND | ND | ND | 60% | / | / | / | ND | | | 283 | 11778 | m.11778G\>A | G11778A\-F117 | G11778A\-F117\-I1 | Uninf | F | N | ND | ND | ND | 88% | / | / | / | ND | | | 284 | 11778 | m.11778G\>A | G11778A\-F117 | G11778A\-F117\-II1 | Fam | M | Y | Y | ND | ND | 98\.5% | / | / | / | Optic atrophy | | | 285 | 11778 | m.11778G\>A | G11778A\-F117 | G11778A\-F117\-II2 | Fam | F | N | ND | ND | ND | 94% | / | / | / | ND | | | 286 | 11778 | m.11778G\>A | G11778A\-F117 | G11778A\-F117\-III1 | Fam | F | N | ND | ND | ND | Homo | / | / | / | ND | | | 287 | 11778 | m.11778G\>A | G11778A\-F117 | G11778A\-F117\-III2 | Fam | M | N | ND | ND | ND | Homo | / | / | / | ND | | | 288 | 11778 | m.11778G\>A | G11778A\-F118 | G11778A\-F118\-I1 | Uninf | F | N | ND | ND | ND | 98\.5% | / | / | / | ND | | | 289 | 11778 | m.11778G\>A | G11778A\-F118 | G11778A\-F118\-II1 | Fam | M | Y | Y | ND | ND | Homo | / | / | / | Optic atrophy | | | 290 | 11778 | m.11778G\>A | G11778A\-F118 | G11778A\-F118\-II2 | Fam | F | N | ND | ND | ND | Homo | / | / | / | ND | | | 291 | 11778 | m.11778G\>A | G11778A\-F119 | G11778A\-F119\-II1 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy | | | 292 | 11778 | m.11778G\>A | G11778A\-F119 | G11778A\-F119\-II2 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | | | 293 | 11778 | m.11778G\>A | G11778A\-F119 | G11778A\-F119\-II3 | Fam | M | Y | Y | A | 29 | Homo | / | / | / | LHON | | | 294 | 11778 | m.11778G\>A | G11778A\-F119 | G11778A\-F119\-II4 | Fam | M | N | Y | A | 25 | Homo | / | / | / | LHON | | | 295 | 11778 | m.11778G\>A | G11778A\-F120 | G11778A\-F120\-II1 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | | | 296 | 11778 | m.11778G\>A | G11778A\-F120 | G11778A\-F120\-II2 | Fam | F | Y | Y | A | 26 | Homo | / | / | / | LHON | | | 297 | 11778 | m.11778G\>A | G11778A\-F120 | G11778A\-F120\-II3 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy | | | 298 | 11778 | m.11778G\>A | G11778A\-F121 | G11778A\-F121\-II1 | Fam | M | N | Y | A | 28 | Homo | / | / | / | LHON | | | 299 | 11778 | m.11778G\>A | G11778A\-F121 | G11778A\-F121\-II2 | Fam | M | Y | Y | A | 26 | Homo | / | / | / | LHON | | | 300 | 11778 | m.11778G\>A | G11778A\-F122 | G11778A\-F122\-II1 | Fam | F | N | N | A | ND | Heteroplasmic | / | / | / | Healthy | | | 301 | 11778 | m.11778G\>A | G11778A\-F122 | G11778A\-F122\-II2 | Fam | M | N | N | A | ND | Heteroplasmic | / | / | / | Healthy | | | 302 | 11778 | m.11778G\>A | G11778A\-F122 | G11778A\-F122\-II3 | Fam | M | Y | Y | A | 43 | Heteroplasmic | / | / | / | LHON | | | 303 | 11778 | m.11778G\>A | G11778A\-F123 | G11778A\-F123\-P1 | Fam | M | Y | Y | A | 37 | Homo | / | / | / | LHON | | | 304 | 11778 | m.11778G\>A | G11778A\-F124 | G11778A\-F124\-II1 | Fam | M | Y | Y | ND | 16 | Homo | / | / | / | LHON; optic atrophy | Original carrier identifier: A1 | | 305 | 11778 | m.11778G\>A | G11778A\-F124 | G11778A\-F124\-II2 | Fam | M | N | N | ND | 18 | Homo | / | / | / | Peripapillary microangiopathy | Original carrier identifier: A2 | | 306 | 11778 | m.11778G\>A | G11778A\-F124 | G11778A\-F124\-II3 | Fam | F | N | N | ND | 42 | Homo | / | / | / | Healthy | Original carrier identifier: A3 | | 307 | 11778 | m.11778G\>A | G11778A\-F125 | G11778A\-F125\-II1 | Fam | M | Y | Y | ND | 18 | Homo | / | / | / | LHON; optic atrophy | Original carrier identifier: B1 | | 308 | 11778 | m.11778G\>A | G11778A\-F125 | G11778A\-F125\-II2 | Fam | F | N | N | ND | 46 | Homo | / | / | / | Healthy | Original carrier identifier: B2 | | 309 | 11778 | m.11778G\>A | G11778A\-F126 | G11778A\-F126\-II1 | Fam | M | Y | Y | ND | 18 | Homo | / | / | / | LHON; optic atrophy | Original carrier identifier: C1 | | 310 | 11778 | m.11778G\>A | G11778A\-F126 | G11778A\-F126\-II2 | Fam | F | N | N | ND | 56 | Homo | / | / | / | Healthy | Original carrier identifier: C2 | | 311 | 11778 | m.11778G\>A | G11778A\-F127 | G11778A\-F127\-II1 | Fam | M | N | Y | ND | 16 | Homo | / | / | / | LHON; optic atrophy | Original carrier identifier: D1 | | 312 | 11778 | m.11778G\>A | G11778A\-F127 | G11778A\-F127\-II2 | Fam | F | N | N | ND | 67 | Homo | / | / | / | Healthy | Original carrier identifier: D2 | | 313 | 11778 | m.11778G\>A | G11778A\-F127 | G11778A\-F127\-II3 | Fam | M | N | Y | ND | 17 | Homo | / | / | / | LHON; optic atrophy | Original carrier identifier: D3 | | 314 | 11778 | m.11778G\>A | G11778A\-F127 | G11778A\-F127\-II4 | Fam | F | N | N | ND | 43 | Homo | / | / | / | Healthy | Original carrier identifier: D4 | | 315 | 11778 | m.11778G\>A | G11778A\-F127 | G11778A\-F127\-II5 | Fam | M | Y | Y | ND | 18 | Homo | / | / | / | LHON; optic atrophy | Original carrier identifier: D5 | | 316 | 11778 | m.11778G\>A | G11778A\-F128 | G11778A\-F128\-II1 | Fam | M | Y | Y | ND | 17 | Homo | / | / | / | LHON; optic atrophy | Original carrier identifier: E1 | | 317 | 11778 | m.11778G\>A | G11778A\-F128 | G11778A\-F128\-II2 | Fam | F | N | N | ND | 21 | Homo | / | / | / | Healthy | Original carrier identifier: E2 | | 318 | 11778 | m.11778G\>A | G11778A\-F128 | G11778A\-F128\-II3 | Fam | F | N | N | ND | 45 | Homo | / | / | / | Healthy | Original carrier identifier: E3 | | 319 | 11778 | m.11778G\>A | G11778A\-F129 | G11778A\-F129\-P1 | Fam | M | Y | Y | ND | 17 | Homo | / | / | / | LHON; optic atrophy | Original carrier identifier: F1 | | 320 | 11778 | m.11778G\>A | G11778A\-F130 | G11778A\-F130\-P1 | Fam | M | Y | Y | ND | 15 | Homo | / | / | / | LHON; optic atrophy | Original carrier identifier: G1 | | 321 | 11778 | m.11778G\>A | G11778A\-F131 | G11778A\-F131\-II1 | Fam | M | Y | Y | A | 7 | Heteroplasmic | / | / | / | Severe childhood visual loss; bilateral optic atrophy | Original ID: Patient had | | 322 | 11778 | m.11778G\>A | G11778A\-F131 | G11778A\-F131\-II2 | Fam | F | N | N | A | ND | Heteroplasmic | / | / | / | Healthy | | | 323 | 11778 | m.11778G\>A | G11778A\-F131 | G11778A\-F131\-II3 | Fam | M | N | N | A | 10 | Heteroplasmic | / | / | / | Healthy | | | 324 | 11778 | m.11778G\>A | G11778A\-F131 | G11778A\-F131\-II4 | Fam | M | N | N | A | 3 | Heteroplasmic | / | / | / | Healthy | | | 325 | 11778 | m.11778G\>A | G11778A\-F132 | G11778A\-F132\-P1 | Uninf | F | Y | Y | A | 10 | Homo | / | / | / | Bilateral optic neuropathy; central scotomas; profound dyschromatopsia; optic disc pallor | | | 326 | 11778 | m.11778G\>A | G11778A\-F133 | G11778A\-F133\-P1 | Uninf | F | Y | Y | A | 46 | Homo | / | / | / | Progressive bilateral optic neuropathy; bitemporal visual field defect; optic disc pallor | | | 327 | 11778 | m.11778G\>A | G11778A\-F134 | G11778A\-F134\-P1 | Uninf | F | Y | Y | A | 40 | Homo | / | / | / | Bilateral blurred vision; profound dyschromatopsia; dense bilateral central scotomas; pale optic discs | | | 328 | 11778 | m.11778G\>A | G11778A\-F135 | G11778A\-F135\-P1 | Uninf | F | Y | Y | A | 54 | Homo | / | / | / | Bilateral optic neuropathy with enlarged optic cups and visual loss | | | 329 | 11778 | m.11778G\>A | G11778A\-F136 | G11778A\-F136\-P1 | Uninf | F | Y | Y | A | 25 | Homo | / | / | / | Bilateral LHON\-like optic neuropathy; centrocecal scotomas; peripapillary microangiopathy | | | 330 | 11778 | m.11778G\>A | G11778A\-F137 | G11778A\-F137\-P1 | Uninf | F | Y | Y | A | 28 | Homo | / | / | / | Bilateral blurred vision; bilateral peripapillary microangiopathy; severe visual loss | | | 331 | 11778 | m.11778G\>A | G11778A\-F138 | G11778A\-F138\-V1 | Fam | F | Y | Y | ND | 30 | / | / | / | / | LHON; spastic dystonia; acquired pes equinus; hypokinetic parkinsonism; psychiatric disorder | | | 332 | 11778 | m.11778G\>A | G11778A\-F139 | G11778A\-F139\-P1 | Fam | M | Y | Y | A | 49 | Homo | / | / | Homo(F) | Longstanding poor vision; paracentral scotomas; reduced color vision; diffuse optic atrophy | | | 333 | 11778 | m.11778G\>A | G11778A\-F140 | G11778A\-F140\-P1 | Uninf | M | Y | Y | A | 33 | Homo | / | / | Homo(F) | Acute loss of vision; no recovery | | | 334 | 11778 | m.11778G\>A | G11778A\-F141 | G11778A\-F141\-II1 | Fam | F | N | Y | A | 65 | Homo | / | / | / | LHON with MS\-like demyelinating disease; paraparesis | Original ID: Patient 1 | | 335 | 11778 | m.11778G\>A | G11778A\-F141 | G11778A\-F141\-II2 | Fam | M | Y | Y | A | 44 | Homo | / | / | / | LHON with MS\-like demyelinating disease; spastic\-atactic gait | Original ID: Patient 2 | | 336 | 11778 | m.11778G\>A | G11778A\-F142 | G11778A\-F142\-III3 | Fam | M | Y | Y | ND | 31 | Homo | / | / | / | LHON; bilateral optic neuropathy; spastic paraparesis; white matter lesions | | | 337 | 11778 | m.11778G\>A | G11778A\-F143 | G11778A\-F143\-P1 | Uninf | ND | Y | Y | ND | ND | Homo | / | / | / | Leber hereditary optic neuropathy | Original carrier identifier: Subject L1 | | 338 | 11778 | m.11778G\>A | G11778A\-F144 | G11778A\-F144\-P1 | Fam | ND | Y | Y | ND | ND | Heteroplasmic; percentage not reported | / | / | / | Leber hereditary optic neuropathy | Original carrier identifier: Subject L2 | | 339 | 11778 | m.11778G\>A | G11778A\-F145 | G11778A\-F145\-P1 | Fam | ND | Y | Y | ND | ND | Homo | / | / | / | Leber hereditary optic neuropathy | Original carrier identifier: Subject L5 | | 340 | 11778 | m.11778G\>A | G11778A\-F146 | G11778A\-F146\-P1 | Fam | ND | Y | Y | ND | ND | Homo | / | / | / | Leber hereditary optic neuropathy | Original carrier identifier: Subject L6 | | 341 | 11778 | m.11778G\>A | G11778A\-F147 | G11778A\-F147\-P1 | Uninf | ND | Y | Y | ND | ND | Homo | / | / | / | Leber hereditary optic neuropathy | Original carrier identifier: Subject L7 | | 342 | 11778 | m.11778G\>A | G11778A\-F148 | G11778A\-F148\-P1 | Fam | ND | Y | Y | ND | ND | Heteroplasmic; percentage not reported | / | / | / | Leber hereditary optic neuropathy | Original carrier identifier: Subject L8 | | 343 | 11778 | m.11778G\>A | G11778A\-F149 | G11778A\-F149\-P1 | Fam | ND | Y | Y | ND | ND | Homo | / | / | / | Leber hereditary optic neuropathy | Original carrier identifier: Subject L9 | | 344 | 11778 | m.11778G\>A | G11778A\-F150 | G11778A\-F150\-P1 | Uninf | ND | Y | Y | ND | ND | Homo | / | / | / | Leber hereditary optic neuropathy | Original carrier identifier: Subject L10 | | 345 | 11778 | m.11778G\>A | G11778A\-F151 | G11778A\-F151\-P1 | Uninf | ND | Y | Y | ND | ND | Heteroplasmic; percentage not reported | / | / | / | Leber hereditary optic neuropathy | Original carrier identifier: Subject L11 | | 346 | 11778 | m.11778G\>A | G11778A\-F152 | G11778A\-F152\-P1 | Uninf | ND | Y | Y | ND | ND | Heteroplasmic; percentage not reported | / | / | / | Leber hereditary optic neuropathy | Original carrier identifier: Subject L12 | | 347 | 11778 | m.11778G\>A | G11778A\-F153 | G11778A\-F153\-P1 | Fam | ND | Y | Y | ND | ND | Homo | / | / | / | Leber hereditary optic neuropathy | Original carrier identifier: Subject L13 | | 348 | 11778 | m.11778G\>A | G11778A\-F154 | G11778A\-F154\-P1 | Fam | ND | Y | Y | ND | ND | Heteroplasmic; percentage not reported | / | / | / | Leber hereditary optic neuropathy | Original carrier identifier: Subject L17 | | 349 | 11778 | m.11778G\>A | G11778A\-F155 | G11778A\-F155\-P1 | Fam | ND | Y | Y | ND | ND | Homo | / | / | / | Leber hereditary optic neuropathy | Original carrier identifier: Subject L18 | | 350 | 11778 | m.11778G\>A | G11778A\-F156 | G11778A\-F156\-P1 | Fam | ND | Y | Y | ND | ND | Homo | / | / | / | Leber hereditary optic neuropathy | Original carrier identifier: Subject L20 | | 351 | 11778 | m.11778G\>A | G11778A\-F157 | G11778A\-F157\-P1 | Fam | ND | Y | Y | ND | ND | Heteroplasmic; percentage not reported | / | / | / | Leber hereditary optic neuropathy | Original carrier identifier: Subject L21 | | 352 | 11778 | m.11778G\>A | G11778A\-F158 | G11778A\-F158\-P1 | Uninf | ND | Y | Y | ND | ND | Homo | / | / | / | Leber hereditary optic neuropathy | Original carrier identifier: Subject L22 | | 353 | 11778 | m.11778G\>A | G11778A\-F159 | G11778A\-F159\-P1 | Uninf | ND | Y | Y | ND | ND | Heteroplasmic; percentage not reported | / | / | / | Leber hereditary optic neuropathy | Original carrier identifier: Subject L23 | | 354 | 11778 | m.11778G\>A | G11778A\-F160 | G11778A\-F160\-P1 | Fam | ND | Y | Y | ND | ND | Homo | / | / | / | Leber hereditary optic neuropathy | Original carrier identifier: Subject L24 | | 355 | 11778 | m.11778G\>A | G11778A\-F161 | G11778A\-F161\-P1 | Uninf | ND | Y | Y | ND | ND | Homo | / | / | / | Leber hereditary optic neuropathy | Original carrier identifier: Subject L25 | | 356 | 11778 | m.11778G\>A | G11778A\-F162 | G11778A\-F162\-P1 | Uninf | ND | Y | Y | ND | ND | Homo | / | / | / | Leber hereditary optic neuropathy | Original carrier identifier: Subject L26 | | 357 | 11778 | m.11778G\>A | G11778A\-F163 | G11778A\-F163\-P1 | Fam | ND | Y | Y | ND | ND | Homo | / | / | / | Leber hereditary optic neuropathy | Original carrier identifier: Subject L27 | | 358 | 11778 | m.11778G\>A | G11778A\-F164 | G11778A\-F164\-P1 | Fam | ND | Y | Y | ND | ND | Homo | / | / | / | Leber hereditary optic neuropathy | Original carrier identifier: Subject L28 | | 359 | 11778 | m.11778G\>A | G11778A\-F165 | G11778A\-F165\-P1 | Fam | ND | Y | Y | ND | ND | Homo | / | / | / | Leber hereditary optic neuropathy | Original carrier identifier: Subject L29 | | 360 | 11778 | m.11778G\>A | G11778A\-F166 | G11778A\-F166\-P1 | Uninf | ND | Y | Y | ND | ND | Heteroplasmic; percentage not reported | / | / | / | Leber hereditary optic neuropathy | Original carrier identifier: Subject L30 | | 361 | 11778 | m.11778G\>A | G11778A\-F167 | G11778A\-F167\-P1 | Fam | ND | Y | Y | ND | ND | Homo | / | / | / | Leber hereditary optic neuropathy | Original carrier identifier: Subject L31 | | 362 | 11778 | m.11778G\>A | G11778A\-F168 | G11778A\-F168\-P1 | Fam | ND | Y | Y | ND | ND | Homo | / | / | / | Leber hereditary optic neuropathy | Original carrier identifier: Subject L32 | | 363 | 11778 | m.11778G\>A | G11778A\-F169 | G11778A\-F169\-P1 | Uninf | ND | Y | Y | ND | ND | Homo | / | / | / | Leber hereditary optic neuropathy | Original carrier identifier: Subject L33 | | 364 | 11778 | m.11778G\>A | G11778A\-F170 | G11778A\-F170\-P1 | Fam | ND | Y | Y | ND | ND | Homo | / | / | / | Leber hereditary optic neuropathy | Original carrier identifier: Subject L37 | | 365 | 11778 | m.11778G\>A | G11778A\-F171 | G11778A\-F171\-II1 | Fam | M | Y | Y | A | 30 | / | / | / | / | Spasticity and bilateral visual loss | | | 366 | 11778 | m.11778G\>A | G11778A\-F171 | G11778A\-F171\-II2 | Fam | M | N | N | A | 25 | / | / | / | / | Healthy | | | 367 | 11778 | m.11778G\>A | G11778A\-F172 | G11778A\-F172\-P1 | Uninf | M | Y | Y | A | 19 | 95% | / | / | / | LHON, optic neuropathy, RPE defect at macula | Original ID: Patient 12 | | 368 | 11778 | m.11778G\>A | G11778A\-F173 | G11778A\-F173\-P1 | Uninf | M | Y | Y | A | 14 | 100% | / | / | / | LHON, acute visual loss, dense central scotoma, optic neuropathy, yellow dot maculopathy | Original ID: Patient 13 | | 369 | 11778 | m.11778G\>A | G11778A\-F174 | G11778A\-F174\-II1 | Fam | F | Y | Y | D | 76 | / | Homo | / | Homo(brain cortex, arachnoidea, optic nerve, optic chiasma, kidney, renal artery) | LHON; autopsied female case | | | 370 | 11778 | m.11778G\>A | G11778A\-F174 | G11778A\-F174\-II2 | Fam | M | N | Y | ND | ND | Homo | / | / | / | LHON | Original carrier identifier: H2 | | 371 | 11778 | m.11778G\>A | G11778A\-F174 | G11778A\-F174\-II3 | Fam | F | N | N | ND | ND | Homo | / | / | / | Healthy | Original carrier identifier: S2 | | 372 | 11778 | m.11778G\>A | G11778A\-F175 | G11778A\-F175\-P1 | Fam | M | Y | Y | ND | 25 | / | / | / | positive(optochiasmal arachnoidea) | Bilateral optic neuropathy; central scotoma | Original ID: Case TN | | 373 | 11778 | m.11778G\>A | G11778A\-F176 | G11778A\-F176\-P1 | Fam | M | Y | Y | ND | 46 | / | / | / | positive(optochiasmal arachnoidea) | Bilateral optic neuropathy; central scotoma | Original ID: Case NK | | 374 | 11778 | m.11778G\>A | G11778A\-F177 | G11778A\-F177\-P1 | Fam | M | Y | Y | ND | 21 | / | / | / | positive(optochiasmal arachnoidea) | Bilateral optic neuropathy; central scotoma | Original ID: Case HM | | 375 | 11778 | m.11778G\>A | G11778A\-F178 | G11778A\-F178\-P1 | Fam | F | Y | Y | ND | 24 | / | / | / | positive(optochiasmal arachnoidea) | Bilateral optic neuropathy; central scotoma | Original ID: Case HT | | 376 | 11778 | m.11778G\>A | G11778A\-F179 | G11778A\-F179\-P1 | Fam | M | Y | Y | ND | 26 | / | / | / | positive(optochiasmal arachnoidea) | Bilateral optic neuropathy; central scotoma | Original ID: Case YK | | 377 | 11778 | m.11778G\>A | G11778A\-F180 | G11778A\-F180\-P1 | Fam | M | Y | Y | ND | 20 | / | / | / | positive(optochiasmal arachnoidea) | Bilateral optic neuropathy | Original ID: Case KI | | 378 | 11778 | m.11778G\>A | G11778A\-F181 | G11778A\-F181\-P1 | Fam | F | Y | Y | ND | 19 | / | / | / | positive(optochiasmal arachnoidea) | Bilateral optic neuropathy | Original ID: Case TI | | 379 | 11778 | m.11778G\>A | G11778A\-F182 | G11778A\-F182\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | LHON | Original ID: Patient 1 | | 380 | 11778 | m.11778G\>A | G11778A\-F183 | G11778A\-F183\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | LHON | Original ID: Patient 2 | | 381 | 11778 | m.11778G\>A | G11778A\-F184 | G11778A\-F184\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | LHON | Original ID: Patient 3 | | 382 | 11778 | m.11778G\>A | G11778A\-F185 | G11778A\-F185\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | LHON | Original ID: Patient 4 | | 383 | 11778 | m.11778G\>A | G11778A\-F186 | G11778A\-F186\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | LHON | Original ID: Patient 5 | | 384 | 11778 | m.11778G\>A | G11778A\-F187 | G11778A\-F187\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | LHON | Original ID: Patient 6 | | 385 | 11778 | m.11778G\>A | G11778A\-F188 | G11778A\-F188\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | LHON | Original ID: Patient 7 | | 386 | 11778 | m.11778G\>A | G11778A\-F189 | G11778A\-F189\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | LHON | Original ID: Patient 8 | | 387 | 11778 | m.11778G\>A | G11778A\-F190 | G11778A\-F190\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | LHON | Original ID: Patient 9 | | 388 | 11778 | m.11778G\>A | G11778A\-F191 | G11778A\-F191\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | LHON | Original ID: Patient 10 | | 389 | 11778 | m.11778G\>A | G11778A\-F192 | G11778A\-F192\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | LHON | Original ID: Patient 11 | | 390 | 11778 | m.11778G\>A | G11778A\-F193 | G11778A\-F193\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | LHON | Original ID: Patient 12 | | 391 | 11778 | m.11778G\>A | G11778A\-F194 | G11778A\-F194\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | LHON | Original ID: Patient 13 | | 392 | 11778 | m.11778G\>A | G11778A\-F195 | G11778A\-F195\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | LHON | Original ID: Patient 14 | | 393 | 11778 | m.11778G\>A | G11778A\-F196 | G11778A\-F196\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | LHON | Original ID: Patient 15 | | 394 | 11778 | m.11778G\>A | G11778A\-F197 | G11778A\-F197\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | LHON | Original ID: Patient 16 | | 395 | 11778 | m.11778G\>A | G11778A\-F198 | G11778A\-F198\-P1 | Uninf | M | Y | Y | A | 18 | / | 100% | / | / | LHON | Original ID: Patient 36 | | 396 | 11778 | m.11778G\>A | G11778A\-F199 | G11778A\-F199\-P1 | Uninf | M | Y | Y | ND | 59 | Homo | / | / | / | LHON; bilateral vision loss; central scotoma | | | 397 | 11778 | m.11778G\>A | G11778A\-F200 | G11778A\-F200\-P1 | Fam | M | Y | Y | A | 38 | / | / | / | / | LHON; bilateral optic neuropathy; HIV positive | | | 398 | 11778 | m.11778G\>A | G11778A\-F201 | G11778A\-F201\-P1 | Uninf | F | Y | Y | ND | 23 | / | / | / | / | LHON; bilateral optic atrophy; dense central scotoma | Original ID: Patient 26 | | 399 | 11778 | m.11778G\>A | G11778A\-F202 | G11778A\-F202\-II1 | Fam | F | Y | Y | A | 9 | 94% | / | / | high\-level 11778A(Lymphoblast/cybrid); exact percent not stated | LHON; bilateral optic atrophy; central scotomas; reduced visual acuity; spontaneous visual recovery | | | 400 | 11778 | m.11778G\>A | G11778A\-F202 | G11778A\-F202\-II2 | Fam | F | N | N | A | ND | 31% | / | / | essentially wild\-type for 11778A(Lymphoblast/cybrid) | Healthy | | | 401 | 11778 | m.11778G\>A | G11778A\-F203 | G11778A\-F203\-P1 | Fam | M | Y | Y | A | 20 | / | / | / | / | LHON; visual loss; onset age 20 | Original ID: Patient 1 | | 402 | 11778 | m.11778G\>A | G11778A\-F204 | G11778A\-F204\-P1 | Fam | M | Y | Y | A | 18 | / | / | / | / | LHON; visual loss; onset age 18 | Original ID: Patient 2 | | 403 | 11778 | m.11778G\>A | G11778A\-F205 | G11778A\-F205\-P1 | Fam | M | Y | Y | A | 19 | / | / | / | / | LHON; visual loss; onset age 19 | Original ID: Patient 3 | | 404 | 11778 | m.11778G\>A | G11778A\-F206 | G11778A\-F206\-II1 | Fam | M | Y | Y | A | 12 | / | / | / | / | LHON; visual loss; onset age 12 | Original ID: Patient 4 | | 405 | 11778 | m.11778G\>A | G11778A\-F206 | G11778A\-F206\-II2 | Fam | M | N | Y | A | 10 | / | / | / | / | LHON; visual loss; onset age 10 | Original ID: Patient 5 | | 406 | 11778 | m.11778G\>A | G11778A\-F207 | G11778A\-F207\-P1 | Fam | M | Y | Y | A | 21 | / | / | / | / | LHON; visual loss; onset age 21 | Original ID: Patient 6 | | 407 | 11778 | m.11778G\>A | G11778A\-F208 | G11778A\-F208\-II1 | Fam | M | Y | Y | A | 30 | / | / | / | / | LHON; visual loss; onset age 30 | Original ID: Patient 7 | | 408 | 11778 | m.11778G\>A | G11778A\-F208 | G11778A\-F208\-II2 | Fam | M | N | Y | A | 30 | / | / | / | / | LHON; visual loss; onset age 30 | Original ID: Patient 8 | | 409 | 11778 | m.11778G\>A | G11778A\-F208 | G11778A\-F208\-II3 | Fam | M | N | Y | A | 30 | / | / | / | / | LHON; visual loss; onset age 30 | Original ID: Patient 9 | | 410 | 11778 | m.11778G\>A | G11778A\-F208 | G11778A\-F208\-II4 | Fam | M | N | Y | A | ND | / | / | / | / | LHON; visual loss | Original ID: Patient 10 | | 411 | 11778 | m.11778G\>A | G11778A\-F209 | G11778A\-F209\-P1 | Fam | M | Y | Y | A | 40 | / | / | / | / | LHON; visual loss; onset age 40 | Original ID: Patient 11 | | 412 | 11778 | m.11778G\>A | G11778A\-F210 | G11778A\-F210\-P1 | Fam | F | Y | Y | A | 53 | / | / | / | / | LHON; visual loss; onset age 53 | Original ID: Patient 12 | | 413 | 11778 | m.11778G\>A | G11778A\-F211 | G11778A\-F211\-P1 | Fam | M | Y | Y | A | 28 | / | / | / | / | LHON; visual loss; onset age 28 | Original ID: Patient 13 | | 414 | 11778 | m.11778G\>A | G11778A\-F212 | G11778A\-F212\-P1 | Fam | M | Y | Y | A | 19 | / | / | / | / | LHON; visual loss; onset age 19 | Original ID: Patient 14 | | 415 | 11778 | m.11778G\>A | G11778A\-F213 | G11778A\-F213\-P1 | Fam | M | Y | Y | A | 18 | / | / | / | / | LHON; visual loss; onset age 18 | Original ID: Patient 15 | | 416 | 11778 | m.11778G\>A | G11778A\-F214 | G11778A\-F214\-P1 | Fam | M | Y | Y | A | 19 | / | / | / | / | LHON; visual loss; onset age 19 | Original ID: Patient 16 | | 417 | 11778 | m.11778G\>A | G11778A\-F215 | G11778A\-F215\-P1 | Fam | M | Y | Y | A | 6 | / | / | / | / | LHON; visual loss; onset age 6 | Original ID: Patient 17 | | 418 | 11778 | m.11778G\>A | G11778A\-F216 | G11778A\-F216\-II1 | Fam | M | Y | Y | A | 20 | / | / | / | / | LHON; visual loss; onset age 20 | Original ID: Patient 18 | | 419 | 11778 | m.11778G\>A | G11778A\-F216 | G11778A\-F216\-II2 | Fam | F | N | Y | A | 20 | / | / | / | / | LHON; visual loss; onset age 20 | Original ID: Patient 19 | | 420 | 11778 | m.11778G\>A | G11778A\-F216 | G11778A\-F216\-II3 | Fam | F | N | Y | A | 10 | / | / | / | / | LHON; visual loss; onset age 10 | Original ID: Patient 20 | | 421 | 11778 | m.11778G\>A | G11778A\-F216 | G11778A\-F216\-II4 | Fam | F | N | Y | A | 45 | / | / | / | / | LHON; visual loss; onset age 45 | Original ID: Patient 21 | | 422 | 11778 | m.11778G\>A | G11778A\-F216 | G11778A\-F216\-II5 | Fam | F | N | Y | A | 30 | / | / | / | / | LHON; visual loss; onset age 30 | Original ID: Patient 22 | | 423 | 11778 | m.11778G\>A | G11778A\-F216 | G11778A\-F216\-II6 | Fam | M | N | Y | A | 19 | / | / | / | / | LHON; visual loss; onset age 19 | Original ID: Patient 23 | | 424 | 11778 | m.11778G\>A | G11778A\-F216 | G11778A\-F216\-II7 | Fam | M | N | Y | A | 30 | / | / | / | / | LHON; visual loss; onset age 30 | Original ID: Patient 24 | | 425 | 11778 | m.11778G\>A | G11778A\-F216 | G11778A\-F216\-II8 | Fam | F | N | Y | A | 40 | / | / | / | / | LHON; visual loss; onset age 40 | Original ID: Patient 25 | | 426 | 11778 | m.11778G\>A | G11778A\-F217 | G11778A\-F217\-II1 | Fam | M | Y | Y | A | 16 | / | / | / | / | LHON; visual loss; onset age 16 | Original ID: Patient 26 | | 427 | 11778 | m.11778G\>A | G11778A\-F217 | G11778A\-F217\-II2 | Fam | F | N | Y | A | 10 | / | / | / | / | LHON; visual loss; onset age 10 | Original ID: Patient 27 | | 428 | 11778 | m.11778G\>A | G11778A\-F217 | G11778A\-F217\-II3 | Fam | F | N | Y | A | 13 | / | / | / | / | LHON; visual loss; onset age 13 | Original ID: Patient 28 | | 429 | 11778 | m.11778G\>A | G11778A\-F217 | G11778A\-F217\-II4 | Fam | M | N | Y | A | 20 | / | / | / | / | LHON; visual loss; onset age 20 | Original ID: Patient 29 | | 430 | 11778 | m.11778G\>A | G11778A\-F218 | G11778A\-F218\-P1 | Fam | M | Y | Y | A | 13 | / | / | / | / | LHON; visual loss; onset age 13 | Original ID: Patient 30 | | 431 | 11778 | m.11778G\>A | G11778A\-F219 | G11778A\-F219\-P1 | Fam | F | Y | Y | A | 12 | / | / | / | / | LHON; visual loss; onset age 12 | Original ID: Patient 31 | | 432 | 11778 | m.11778G\>A | G11778A\-F220 | G11778A\-F220\-P1 | Fam | M | Y | Y | A | 16 | / | / | / | / | LHON; visual loss; onset age 16 | Original ID: Patient 32 | | 433 | 11778 | m.11778G\>A | G11778A\-F221 | G11778A\-F221\-II1 | Fam | M | Y | Y | A | 16 | / | / | / | / | LHON; visual loss; onset age 16 | Original ID: Patient 33 | | 434 | 11778 | m.11778G\>A | G11778A\-F221 | G11778A\-F221\-II2 | Fam | M | N | Y | A | 7 | / | / | / | / | LHON; visual loss; onset age 7 | Original ID: Patient 34 | | 435 | 11778 | m.11778G\>A | G11778A\-F221 | G11778A\-F221\-II3 | Fam | M | N | Y | A | 8 | / | / | / | / | LHON; visual loss; onset age 8 | Original ID: Patient 35 | | 436 | 11778 | m.11778G\>A | G11778A\-F221 | G11778A\-F221\-II4 | Fam | M | N | Y | A | 33 | / | / | / | / | LHON; visual loss; onset age 33 | Original ID: Patient 36 | | 437 | 11778 | m.11778G\>A | G11778A\-F221 | G11778A\-F221\-II5 | Fam | M | N | Y | A | ND | / | / | / | / | LHON; visual loss | Original ID: Patient 37 | | 438 | 11778 | m.11778G\>A | G11778A\-F222 | G11778A\-F222\-II1 | Fam | M | Y | Y | ND | ND | / | / | / | / | LHON | Original ID: Subject 1 | | 439 | 11778 | m.11778G\>A | G11778A\-F222 | G11778A\-F222\-II2 | Fam | M | N | N | ND | ND | / | / | / | / | Healthy | Original ID: Subject 2 | | 440 | 11778 | m.11778G\>A | G11778A\-F222 | G11778A\-F222\-II3 | Fam | M | N | Y | ND | ND | / | / | / | / | LHON | Original ID: Subject 3 | | 441 | 11778 | m.11778G\>A | G11778A\-F222 | G11778A\-F222\-II4 | Fam | F | N | Y | ND | ND | / | / | / | / | LHON | Original ID: Subject 4 | | 442 | 11778 | m.11778G\>A | G11778A\-F223 | G11778A\-F223\-II1 | Fam | M | N | Y | ND | ND | / | / | / | / | LHON | Original ID: Subject 5 | | 443 | 11778 | m.11778G\>A | G11778A\-F223 | G11778A\-F223\-II2 | Fam | M | Y | Y | ND | ND | / | / | / | / | LHON | Original ID: Subject 6 | | 444 | 11778 | m.11778G\>A | G11778A\-F223 | G11778A\-F223\-II3 | Fam | F | N | N | ND | ND | / | / | / | / | Healthy | Original ID: Subject 7 | | 445 | 11778 | m.11778G\>A | G11778A\-F223 | G11778A\-F223\-II4 | Fam | M | N | N | ND | ND | / | / | / | / | Healthy | Original ID: Subject 8 | | 446 | 11778 | m.11778G\>A | G11778A\-F224 | G11778A\-F224\-II1 | Fam | F | N | N | ND | ND | / | / | / | / | Healthy | Original ID: Subject 11 | | 447 | 11778 | m.11778G\>A | G11778A\-F224 | G11778A\-F224\-II2 | Fam | M | Y | Y | ND | ND | / | / | / | / | LHON | Original ID: Subject 12 | | 448 | 11778 | m.11778G\>A | G11778A\-F225 | G11778A\-F225\-II1 | Fam | F | N | N | ND | ND | / | / | / | / | Healthy | Original ID: Subject 13 | | 449 | 11778 | m.11778G\>A | G11778A\-F225 | G11778A\-F225\-II2 | Fam | M | Y | Y | ND | ND | / | / | / | / | LHON | Original ID: Subject 14 | | 450 | 11778 | m.11778G\>A | G11778A\-F226 | G11778A\-F226\-P1 | Uninf | M | Y | Y | A | 21 | Homo | / | / | / | LHON; bilateral central scotomas; visual recovery after coenzyme Q10 | | | 451 | 11778 | m.11778G\>A | G11778A\-F227 | G11778A\-F227\-II1 | Fam | F | Y | N | ND | ND | 23\.7%; 22%; 22\.4% | / | / | / | Healthy | | | 452 | 11778 | m.11778G\>A | G11778A\-F227 | G11778A\-F227\-II2 | Fam | M | N | N | ND | ND | 21\.1%; 21%; 22\.7% | / | / | / | Healthy | | | 453 | 11778 | m.11778G\>A | G11778A\-F227 | G11778A\-F227\-II3 | Fam | M | N | N | ND | ND | 47\.3%; 43\.7%; 42% | / | / | / | Healthy | | | 454 | 11778 | m.11778G\>A | G11778A\-F228 | G11778A\-F228\-II1 | Fam | F | N | N | ND | ND | 83\.8%; 86\.1% | / | / | / | Healthy | | | 455 | 11778 | m.11778G\>A | G11778A\-F228 | G11778A\-F228\-II2 | Fam | M | Y | Y | ND | ND | 98\.2%; 98\.1% | / | / | / | LHON | | | 456 | 11778 | m.11778G\>A | G11778A\-F228 | G11778A\-F228\-II3 | Fam | F | N | N | ND | ND | 93\.3%; 94\.5% | / | / | / | Healthy | | | 457 | 11778 | m.11778G\>A | G11778A\-F229 | G11778A\-F229\-II1 | Fam | F | N | N | ND | ND | 96\.9%; 97\.6% | / | / | / | Healthy | | | 458 | 11778 | m.11778G\>A | G11778A\-F229 | G11778A\-F229\-II2 | Fam | M | Y | Y | ND | ND | Homo | / | / | / | LHON | | | 459 | 11778 | m.11778G\>A | G11778A\-F229 | G11778A\-F229\-II3 | Fam | F | N | N | ND | ND | Homo | / | / | / | Healthy | | | 460 | 11778 | m.11778G\>A | G11778A\-F230 | G11778A\-F230\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | LHON; individual clinical details not reported in table | | | 461 | 11778 | m.11778G\>A | G11778A\-F231 | G11778A\-F231\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | LHON; individual clinical details not reported in table | | | 462 | 11778 | m.11778G\>A | G11778A\-F232 | G11778A\-F232\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | LHON; individual clinical details not reported in table | | | 463 | 11778 | m.11778G\>A | G11778A\-F233 | G11778A\-F233\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | LHON; individual clinical details not reported in table | | | 464 | 11778 | m.11778G\>A | G11778A\-F234 | G11778A\-F234\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | LHON; individual clinical details not reported in table | | | 465 | 11778 | m.11778G\>A | G11778A\-F235 | G11778A\-F235\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | LHON; individual clinical details not reported in table | | | 466 | 11778 | m.11778G\>A | G11778A\-F236 | G11778A\-F236\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | LHON; individual clinical details not reported in table | | | 467 | 11778 | m.11778G\>A | G11778A\-F237 | G11778A\-F237\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | LHON; individual clinical details not reported in table | | | 468 | 11778 | m.11778G\>A | G11778A\-F238 | G11778A\-F238\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | LHON; individual clinical details not reported in table | | | 469 | 11778 | m.11778G\>A | G11778A\-F239 | G11778A\-F239\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | LHON; individual clinical details not reported in table | | | 470 | 11778 | m.11778G\>A | G11778A\-F240 | G11778A\-F240\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | LHON; individual clinical details not reported in table | | | 471 | 11778 | m.11778G\>A | G11778A\-F241 | G11778A\-F241\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | LHON; individual clinical details not reported in table | | | 472 | 11778 | m.11778G\>A | G11778A\-F242 | G11778A\-F242\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | LHON; individual clinical details not reported in table | | | 473 | 11778 | m.11778G\>A | G11778A\-F243 | G11778A\-F243\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | LHON; individual clinical details not reported in table | | | 474 | 11778 | m.11778G\>A | G11778A\-F244 | G11778A\-F244\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | LHON; individual clinical details not reported in table | | | 475 | 11778 | m.11778G\>A | G11778A\-F245 | G11778A\-F245\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | LHON; individual clinical details not reported in table | | | 476 | 11778 | m.11778G\>A | G11778A\-F246 | G11778A\-F246\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | LHON; individual clinical details not reported in table | | | 477 | 11778 | m.11778G\>A | G11778A\-F247 | G11778A\-F247\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | LHON; individual clinical details not reported in table | | | 478 | 11778 | m.11778G\>A | G11778A\-F248 | G11778A\-F248\-II1 | Fam | F | N | N | A | ND | 23% | / | / | / | Healthy | Coexisting variant: T14484C | | 479 | 11778 | m.11778G\>A | G11778A\-F248 | G11778A\-F248\-III1 | Fam | ND | N | ND | A | ND | 35% | / | / | / | ND | Coexisting variant: T14484C | | 480 | 11778 | m.11778G\>A | G11778A\-F248 | G11778A\-F248\-III2 | Fam | F | N | Y | A | 29 | 77% | / | / | / | LHON; visual loss onset age 29; VA 20/400 OU | Coexisting variant: T14484C | | 481 | 11778 | m.11778G\>A | G11778A\-F248 | G11778A\-F248\-III3 | Fam | M | N | Y | A | 24 | 42% | / | / | / | LHON; visual loss onset age 24; VA 20/400 OU | Coexisting variant: T14484C | | 482 | 11778 | m.11778G\>A | G11778A\-F248 | G11778A\-F248\-IV1 | Fam | F | Y | Y | A | 23 | 71% | / | / | / | LHON; bilateral visual loss | Coexisting variant: T14484C | | 483 | 11778 | m.11778G\>A | G11778A\-F249 | G11778A\-F249\-II1 | Fam | F | Y | Y | A | 42 | 65% | / | / | / | LHON; visual loss; sarcoidosis history | Coexisting variant: T14484C | | 484 | 11778 | m.11778G\>A | G11778A\-F249 | G11778A\-F249\-II2 | Fam | F | N | N | A | ND | 40% | / | / | / | Healthy | Coexisting variant: T14484C | | 485 | 11778 | m.11778G\>A | G11778A\-F250 | G11778A\-F250\-P1 | Fam | ND | Y | Y | ND | ND | / | / | / | / | LHON | Original ID: Patient for | | 486 | 11778 | m.11778G\>A | G11778A\-F251 | G11778A\-F251\-P1 | Fam | ND | Y | Y | ND | ND | / | / | / | / | LHON | Original ID: Patient for | | 487 | 11778 | m.11778G\>A | G11778A\-F252 | G11778A\-F252\-P1 | Fam | ND | Y | Y | ND | ND | / | / | / | / | LHON | Original ID: Patient for | | 488 | 11778 | m.11778G\>A | G11778A\-F253 | G11778A\-F253\-P1 | Fam | ND | Y | Y | ND | ND | / | / | / | / | LHON | Original ID: Patient for | | 489 | 11778 | m.11778G\>A | G11778A\-F254 | G11778A\-F254\-P1 | Fam | ND | Y | Y | ND | ND | / | / | / | / | LHON | Original ID: Patient for | | 490 | 11778 | m.11778G\>A | G11778A\-F255 | G11778A\-F255\-P1 | Fam | ND | Y | Y | ND | ND | / | / | / | / | LHON | Original ID: Patient for | | 491 | 11778 | m.11778G\>A | G11778A\-F256 | G11778A\-F256\-P1 | Fam | ND | Y | Y | ND | ND | / | / | / | / | LHON | Original ID: Patient for | | 492 | 11778 | m.11778G\>A | G11778A\-F257 | G11778A\-F257\-P1 | Fam | ND | Y | Y | ND | ND | / | / | / | / | LHON | Original ID: Patient for | | 493 | 11778 | m.11778G\>A | G11778A\-F258 | G11778A\-F258\-P1 | Fam | ND | Y | Y | ND | ND | / | / | / | / | LHON | Original ID: Patient for | | 494 | 11778 | m.11778G\>A | G11778A\-F259 | G11778A\-F259\-P1 | Fam | ND | Y | Y | ND | ND | / | / | / | / | LHON | Original ID: Patient for | | 495 | 11778 | m.11778G\>A | G11778A\-F260 | G11778A\-F260\-P1 | Uninf | M | Y | Y | ND | 51 | Homo | / | / | / | LHON; hypertrophic cardiomyopathy; chronic renal failure; hypertension; diabetes mellitus | | | 496 | 11778 | m.11778G\>A | G11778A\-F261 | G11778A\-F261\-P1 | Uninf | M | Y | Y | A | 42 | / | / | / | / | LHON; Dyspnoea and palpitations; ECG abnormalities | Original ID: Patient 12 | | 497 | 11778 | m.11778G\>A | G11778A\-F262 | G11778A\-F262\-P1 | Uninf | M | Y | Y | A | 44 | / | / | / | / | LHON; Post\-micturition syncope; ECG abnormalities | Original ID: Patient 13 | | 498 | 11778 | m.11778G\>A | G11778A\-F263 | G11778A\-F263\-P1 | Uninf | M | Y | Y | A | 54 | / | / | / | / | LHON; Post\-micturition syncope; ECG left ventricular hypertrophy | Original ID: Patient 14 | | 499 | 11778 | m.11778G\>A | G11778A\-F264 | G11778A\-F264\-P1 | Uninf | M | Y | Y | A | 27 | / | / | / | / | LHON; No cardiac symptoms reported | Original ID: Patient 15 | | 500 | 11778 | m.11778G\>A | G11778A\-F265 | G11778A\-F265\-P1 | Uninf | F | Y | Y | A | 48 | / | / | / | / | LHON; Palpitations | Original ID: Patient 16 | | 501 | 11778 | m.11778G\>A | G11778A\-F266 | G11778A\-F266\-P1 | Uninf | M | Y | Y | A | 57 | / | / | / | / | LHON; No cardiac symptoms reported | Original ID: Patient 17 | | 502 | 11778 | m.11778G\>A | G11778A\-F267 | G11778A\-F267\-P1 | Uninf | M | Y | Y | A | 42 | / | / | / | / | LHON; No cardiac symptoms reported; ECG abnormalities | Original ID: Patient 18 | | 503 | 11778 | m.11778G\>A | G11778A\-F268 | G11778A\-F268\-P1 | Uninf | F | Y | Y | A | 32 | / | / | / | / | LHON; No cardiac symptoms reported; ECG abnormalities | Original ID: Patient 19 | | 504 | 11778 | m.11778G\>A | G11778A\-F269 | G11778A\-F269\-P1 | Uninf | ND | Y | Y | A | ND | / | / | / | / | LHON; bilateral optic neuropathy | Original ID: Patient ID; Original carrier identifier: Osaka\-1 | | 505 | 11778 | m.11778G\>A | G11778A\-F270 | G11778A\-F270\-P1 | Uninf | ND | Y | Y | A | ND | / | / | / | / | LHON; bilateral optic neuropathy | Original ID: Patient ID; Original carrier identifier: Saga\-2 | | 506 | 11778 | m.11778G\>A | G11778A\-F271 | G11778A\-F271\-P1 | Uninf | ND | Y | Y | A | ND | / | / | / | / | LHON; bilateral optic neuropathy | Original ID: Patient ID; Original carrier identifier: Amami\-1 | | 507 | 11778 | m.11778G\>A | G11778A\-F272 | G11778A\-F272\-P1 | Uninf | ND | Y | Y | A | ND | / | / | / | / | LHON; bilateral optic neuropathy | Original ID: Patient ID; Original carrier identifier: Osaka\-2 | | 508 | 11778 | m.11778G\>A | G11778A\-F273 | G11778A\-F273\-P1 | Uninf | ND | Y | Y | A | ND | / | / | / | / | LHON; bilateral optic neuropathy | Original ID: Patient ID; Original carrier identifier: Tokyo\-2 | | 509 | 11778 | m.11778G\>A | G11778A\-F274 | G11778A\-F274\-P1 | Uninf | ND | Y | Y | A | ND | / | / | / | / | LHON; bilateral optic neuropathy | Original ID: Patient ID; Original carrier identifier: Miyazaki\-3 | | 510 | 11778 | m.11778G\>A | G11778A\-F275 | G11778A\-F275\-P1 | Uninf | ND | Y | Y | A | ND | / | / | / | / | LHON; bilateral optic neuropathy | Original ID: Patient ID; Original carrier identifier: Kumamoto\-2 | | 511 | 11778 | m.11778G\>A | G11778A\-F276 | G11778A\-F276\-P1 | Uninf | ND | Y | Y | A | ND | / | / | / | / | LHON; bilateral optic neuropathy | Original ID: Patient ID; Original carrier identifier: Kagoshima\-6 | | 512 | 11778 | m.11778G\>A | G11778A\-F277 | G11778A\-F277\-P1 | Uninf | ND | Y | Y | A | ND | / | / | / | / | LHON; bilateral optic neuropathy | Original ID: Patient ID; Original carrier identifier: Miyazaki\-4 | | 513 | 11778 | m.11778G\>A | G11778A\-F278 | G11778A\-F278\-P1 | Uninf | ND | Y | Y | A | ND | / | / | / | / | LHON; bilateral optic neuropathy | Original ID: Patient ID; Original carrier identifier: Kagoshima\-12 | | 514 | 11778 | m.11778G\>A | G11778A\-F279 | G11778A\-F279\-P1 | Uninf | ND | Y | Y | A | ND | / | / | / | / | LHON; bilateral optic neuropathy | Original ID: Patient ID; Original carrier identifier: Wakayama\-1 | | 515 | 11778 | m.11778G\>A | G11778A\-F280 | G11778A\-F280\-P1 | Uninf | ND | Y | Y | A | ND | / | / | / | / | LHON; bilateral optic neuropathy | Original ID: Patient ID; Original carrier identifier: Kumamoto\-4 | | 516 | 11778 | m.11778G\>A | G11778A\-F281 | G11778A\-F281\-P1 | Uninf | ND | Y | Y | A | ND | / | / | / | / | LHON; bilateral optic neuropathy | Original ID: Patient ID; Original carrier identifier: Hiroshima\-1 | | 517 | 11778 | m.11778G\>A | G11778A\-F282 | G11778A\-F282\-P1 | Uninf | ND | Y | Y | A | ND | / | / | / | / | LHON; bilateral optic neuropathy | Original ID: Patient ID; Original carrier identifier: Kumamoto\-3 | | 518 | 11778 | m.11778G\>A | G11778A\-F283 | G11778A\-F283\-P1 | Uninf | ND | Y | Y | A | ND | / | / | / | / | LHON; bilateral optic neuropathy | Original ID: Patient ID; Original carrier identifier: Kumamoto\-1 | | 519 | 11778 | m.11778G\>A | G11778A\-F284 | G11778A\-F284\-P1 | Uninf | ND | Y | Y | A | ND | / | / | / | / | LHON; bilateral optic neuropathy | Original ID: Patient ID; Original carrier identifier: Kagoshima\-3 | | 520 | 11778 | m.11778G\>A | G11778A\-F285 | G11778A\-F285\-P1 | Uninf | ND | Y | Y | A | ND | / | / | / | / | LHON; bilateral optic neuropathy | Original ID: Patient ID; Original carrier identifier: Kagoshima\-4 | | 521 | 11778 | m.11778G\>A | G11778A\-F286 | G11778A\-F286\-P1 | Uninf | ND | Y | Y | A | ND | / | / | / | / | LHON; bilateral optic neuropathy | Original ID: Patient ID; Original carrier identifier: Hiroshima\-2 | | 522 | 11778 | m.11778G\>A | G11778A\-F287 | G11778A\-F287\-P1 | Uninf | ND | Y | Y | A | ND | / | / | / | / | LHON; bilateral optic neuropathy | Original ID: Patient ID; Original carrier identifier: Hiroshima\-3 | | 523 | 11778 | m.11778G\>A | G11778A\-F288 | G11778A\-F288\-P1 | Uninf | ND | Y | Y | A | ND | / | / | / | / | LHON; bilateral optic neuropathy | Original ID: Patient ID; Original carrier identifier: Miyazaki\-2 | | 524 | 11778 | m.11778G\>A | G11778A\-F289 | G11778A\-F289\-P1 | Uninf | ND | Y | Y | A | ND | / | / | / | / | LHON; bilateral optic neuropathy | Original ID: Patient ID; Original carrier identifier: Okinawa\-2 | | 525 | 11778 | m.11778G\>A | G11778A\-F290 | G11778A\-F290\-P1 | Uninf | ND | Y | Y | A | ND | / | / | / | / | LHON; bilateral optic neuropathy | Original ID: Patient ID; Original carrier identifier: Kagoshima\-9 | | 526 | 11778 | m.11778G\>A | G11778A\-F291 | G11778A\-F291\-P1 | Uninf | ND | Y | Y | A | ND | / | / | / | / | LHON; bilateral optic neuropathy | Original ID: Patient ID; Original carrier identifier: Kagoshima\-7 | | 527 | 11778 | m.11778G\>A | G11778A\-F292 | G11778A\-F292\-P1 | Uninf | ND | Y | Y | A | ND | / | / | / | / | LHON; bilateral optic neuropathy | Original ID: Patient ID; Original carrier identifier: Saga\-1 | | 528 | 11778 | m.11778G\>A | G11778A\-F293 | G11778A\-F293\-P1 | Uninf | ND | Y | Y | A | ND | / | / | / | / | LHON; bilateral optic neuropathy | Original ID: Patient ID; Original carrier identifier: Tokyo\-1 | | 529 | 11778 | m.11778G\>A | G11778A\-F294 | G11778A\-F294\-P1 | Uninf | ND | Y | Y | A | ND | / | / | / | / | LHON; bilateral optic neuropathy | Original ID: Patient ID; Original carrier identifier: Kagoshima\-2 | | 530 | 11778 | m.11778G\>A | G11778A\-F295 | G11778A\-F295\-P1 | Uninf | ND | Y | Y | A | ND | / | / | / | / | LHON; bilateral optic neuropathy | Original ID: Patient ID; Original carrier identifier: Kagoshima\-5 | | 531 | 11778 | m.11778G\>A | G11778A\-F296 | G11778A\-F296\-P1 | Uninf | ND | Y | Y | A | ND | / | / | / | / | LHON; bilateral optic neuropathy | Original ID: Patient ID; Original carrier identifier: Kagoshima\-13 | | 532 | 11778 | m.11778G\>A | G11778A\-F297 | G11778A\-F297\-P1 | Uninf | ND | Y | Y | A | ND | / | / | / | / | LHON; bilateral optic neuropathy | Original ID: Patient ID; Original carrier identifier: Kagoshima\-10 | | 533 | 11778 | m.11778G\>A | G11778A\-F298 | G11778A\-F298\-P1 | Uninf | ND | Y | Y | A | ND | / | / | / | / | LHON; bilateral optic neuropathy | Original ID: Patient ID; Original carrier identifier: Kagoshima\-11 | | 534 | 11778 | m.11778G\>A | G11778A\-F299 | G11778A\-F299\-P1 | Uninf | ND | Y | Y | A | ND | / | / | / | / | LHON; bilateral optic neuropathy | Original ID: Patient ID; Original carrier identifier: Okinawa\-1 | | 535 | 11778 | m.11778G\>A | G11778A\-F300 | G11778A\-F300\-P1 | Uninf | ND | Y | Y | A | ND | / | / | / | / | LHON; bilateral optic neuropathy | Original ID: Patient ID; Original carrier identifier: Kagoshima\-14 | | 536 | 11778 | m.11778G\>A | G11778A\-F301 | G11778A\-F301\-P1 | Uninf | ND | Y | Y | A | ND | / | / | / | / | LHON; bilateral optic neuropathy | Original ID: Patient ID; Original carrier identifier: Kagoshima\-1 | | 537 | 11778 | m.11778G\>A | G11778A\-F302 | G11778A\-F302\-P1 | Uninf | ND | Y | Y | A | ND | / | / | / | / | LHON; bilateral optic neuropathy | Original ID: Patient ID; Original carrier identifier: Kagoshima\-8 | | 538 | 11778 | m.11778G\>A | G11778A\-F303 | G11778A\-F303\-P1 | Uninf | ND | Y | Y | A | ND | / | / | / | / | LHON; bilateral optic neuropathy | Original ID: Patient ID; Original carrier identifier: Kurume\-1 | | 539 | 11778 | m.11778G\>A | G11778A\-F304 | G11778A\-F304\-P1 | Uninf | ND | Y | Y | A | ND | / | / | / | / | LHON; bilateral optic neuropathy | Original ID: Patient ID; Original carrier identifier: Miyazaki\-1 | | 540 | 11778 | m.11778G\>A | G11778A\-F305 | G11778A\-F305\-II1 | Fam | F | N | N | A | 51 | Homo | / | / | / | Healthy LHON; slight optic atrophy OD | Original ID: Case M | | 541 | 11778 | m.11778G\>A | G11778A\-F305 | G11778A\-F305\-II2 | Fam | M | Y | Y | A | 14 | Homo | / | / | / | LHON; acute bilateral visual loss; central scotomas; abnormal optic disks | Original ID: Case P | | 542 | 11778 | m.11778G\>A | G11778A\-F305 | G11778A\-F305\-II3 | Fam | M | N | Y | A | ND | Homo | / | / | / | LHON optic neuropathy | | | 543 | 11778 | m.11778G\>A | G11778A\-F305 | G11778A\-F305\-II4 | Fam | M | N | Y | A | ND | Homo | / | / | / | LHON optic neuropathy | | | 544 | 11778 | m.11778G\>A | G11778A\-F306 | G11778A\-F306\-P1 | Uninf | M | Y | Y | ND | 12 | / | / | / | / | Bilateral visual loss; optic disc hyperemia; peripapillary telangiectasis; central visual field loss | | | 545 | 11778 | m.11778G\>A | G11778A\-F307 | G11778A\-F307\-P1 | Uninf | M | Y | Y | A | 14 | / | / | / | / | LHON; bilateral subacute visual loss; visual recovery | | | 546 | 11778 | m.11778G\>A | G11778A\-F308 | G11778A\-F308\-P1 | Uninf | F | Y | Y | A | 45 | / | / | / | / | LHON/Harding disease; bilateral sequential optic neuritis; multiple\-sclerosis\-like illness; progressive auditory neuropathy; tinnitus and hearing difficulty | Original ID: Case 1 | | 547 | 11778 | m.11778G\>A | G11778A\-F309 | G11778A\-F309\-P1 | Fam | M | Y | Y | A | 59 | / | / | / | / | LHON; severe visual deficit; progressive auditory neuropathy; bilateral hearing loss | Original ID: Case 2 | | 548 | 11778 | m.11778G\>A | G11778A\-F310 | G11778A\-F310\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | LHON | Original carrier identifier: HFF | | 549 | 11778 | m.11778G\>A | G11778A\-F311 | G11778A\-F311\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | LHON | Original carrier identifier: HPE | | 550 | 11778 | m.11778G\>A | G11778A\-F312 | G11778A\-F312\-II1 | Fam | F | N | N | A | 62 | Homo | / | / | / | Healthy | | | 551 | 11778 | m.11778G\>A | G11778A\-F312 | G11778A\-F312\-III1 | Fam | F | N | N | A | 35 | Homo | / | / | / | Healthy | | | 552 | 11778 | m.11778G\>A | G11778A\-F312 | G11778A\-F312\-III2 | Fam | M | Y | Y | A | 22 | Homo | / | / | / | LHON; profound visual impairment | | | 553 | 11778 | m.11778G\>A | G11778A\-F312 | G11778A\-F312\-III3 | Fam | F | N | N | A | 39 | Homo | / | / | / | Healthy | | | 554 | 11778 | m.11778G\>A | G11778A\-F312 | G11778A\-F312\-III4 | Fam | F | N | N | A | 33 | Homo | / | / | / | Healthy | | | 555 | 11778 | m.11778G\>A | G11778A\-F312 | G11778A\-F312\-III5 | Fam | M | N | N | A | 41 | Homo | / | / | / | Healthy | | | 556 | 11778 | m.11778G\>A | G11778A\-F312 | G11778A\-F312\-III6 | Fam | M | N | Y | A | 37 | Homo | / | / | / | LHON; mild visual impairment | | | 557 | 11778 | m.11778G\>A | G11778A\-F312 | G11778A\-F312\-III7 | Fam | M | N | Y | A | 31 | Homo | / | / | / | LHON; mild visual impairment | | | 558 | 11778 | m.11778G\>A | G11778A\-F312 | G11778A\-F312\-III8 | Fam | F | N | N | A | 30 | Homo | / | / | / | Healthy | | | 559 | 11778 | m.11778G\>A | G11778A\-F312 | G11778A\-F312\-III9 | Fam | M | N | Y | A | 32 | Homo | / | / | / | LHON; moderate visual impairment | | | 560 | 11778 | m.11778G\>A | G11778A\-F312 | G11778A\-F312\-III10 | Fam | M | N | N | A | 14 | Homo | / | / | / | Healthy | | | 561 | 11778 | m.11778G\>A | G11778A\-F312 | G11778A\-F312\-III11 | Fam | M | N | N | A | 42 | Homo | / | / | / | Healthy | | | 562 | 11778 | m.11778G\>A | G11778A\-F312 | G11778A\-F312\-III12 | Fam | M | N | Y | A | 32 | Homo | / | / | / | LHON; moderate visual impairment | | | 563 | 11778 | m.11778G\>A | G11778A\-F312 | G11778A\-F312\-III13 | Fam | F | N | N | A | 29 | Homo | / | / | / | Healthy | | | 564 | 11778 | m.11778G\>A | G11778A\-F312 | G11778A\-F312\-III14 | Fam | F | N | N | A | 54 | Homo | / | / | / | Healthy | | | 565 | 11778 | m.11778G\>A | G11778A\-F312 | G11778A\-F312\-III15 | Fam | M | N | N | A | 25 | Homo | / | / | / | Healthy | | | 566 | 11778 | m.11778G\>A | G11778A\-F312 | G11778A\-F312\-IV1 | Fam | M | N | N | A | 16 | Homo | / | / | / | Healthy | | | 567 | 11778 | m.11778G\>A | G11778A\-F312 | G11778A\-F312\-IV2 | Fam | M | N | N | A | 18 | Homo | / | / | / | Healthy | | | 568 | 11778 | m.11778G\>A | G11778A\-F312 | G11778A\-F312\-IV3 | Fam | M | N | N | A | 20 | Homo | / | / | / | Healthy | | | 569 | 11778 | m.11778G\>A | G11778A\-F312 | G11778A\-F312\-IV4 | Fam | M | N | N | A | 12 | Homo | / | / | / | Healthy | | | 570 | 11778 | m.11778G\>A | G11778A\-F312 | G11778A\-F312\-IV5 | Fam | M | N | N | A | 15 | Homo | / | / | / | Healthy | | | 571 | 11778 | m.11778G\>A | G11778A\-F312 | G11778A\-F312\-IV6 | Fam | M | N | Y | A | 30 | Homo | / | / | / | LHON; severe visual impairment | | | 572 | 11778 | m.11778G\>A | G11778A\-F312 | G11778A\-F312\-IV7 | Fam | F | N | N | A | 35 | Homo | / | / | / | Healthy | | | 573 | 11778 | m.11778G\>A | G11778A\-F312 | G11778A\-F312\-IV8 | Fam | F | N | N | A | 28 | Homo | / | / | / | Healthy | | | 574 | 11778 | m.11778G\>A | G11778A\-F312 | G11778A\-F312\-IV9 | Fam | F | N | N | A | 35 | Homo | / | / | / | Healthy | | | 575 | 11778 | m.11778G\>A | G11778A\-F312 | G11778A\-F312\-V1 | Fam | M | N | N | A | 10 | Homo | / | / | / | Healthy | | | 576 | 11778 | m.11778G\>A | G11778A\-F312 | G11778A\-F312\-V2 | Fam | F | N | N | A | 16 | Homo | / | / | / | Healthy | | | 577 | 11778 | m.11778G\>A | G11778A\-F313 | G11778A\-F313\-III1 | Fam | M | N | Y | A | 18 | 61% | / | / | / | LHON; visual loss onset age 16 | Original carrier identifier: IIIa1 | | 578 | 11778 | m.11778G\>A | G11778A\-F313 | G11778A\-F313\-II1 | Fam | F | N | Y | A | 49 | 70% | / | / | / | LHON; FSHD; visual loss onset age 13; muscle weakness onset age 27 | Original carrier identifier: IIa1 | | 579 | 11778 | m.11778G\>A | G11778A\-F313 | G11778A\-F313\-III2 | Fam | F | N | N | A | 16 | 71% | / | / | / | FSHD; no visual loss | Original carrier identifier: IIIa2 | | 580 | 11778 | m.11778G\>A | G11778A\-F313 | G11778A\-F313\-II2 | Fam | M | N | Y | A | 41 | 69% | / | / | / | LHON; visual loss onset age 20 | Original carrier identifier: IIa2 | | 581 | 11778 | m.11778G\>A | G11778A\-F313 | G11778A\-F313\-III3 | Fam | M | N | Y | A | 18 | 96% | / | / | / | LHON; FSHD; visual loss onset age 12; muscle weakness onset age 9 | Original carrier identifier: IIIa3 | | 582 | 11778 | m.11778G\>A | G11778A\-F313 | G11778A\-F313\-II3 | Fam | F | N | Y | A | 38 | 64% | / | / | / | LHON; FSHD; visual loss onset age 10; muscle weakness onset age 36 | Original carrier identifier: IIa3 | | 583 | 11778 | m.11778G\>A | G11778A\-F313 | G11778A\-F313\-III4 | Fam | F | N | N | A | 10 | 99% | / | / | / | Healthy | Original carrier identifier: IIIa4 | | 584 | 11778 | m.11778G\>A | G11778A\-F313 | G11778A\-F313\-I1 | Uninf | F | Y | Y | A | 71 | 22% | / | / | / | LHON; FSHD; visual loss onset age 10; muscle weakness onset age 30 | Original carrier identifier: Ia | | 585 | 11778 | m.11778G\>A | G11778A\-F314 | G11778A\-F314\-IV2 | Fam | M | Y | Y | A | 17 | Homo | / | / | / | LHON; onset age 16; bilateral visual impairment; visual acuity \<0\.01 both eyes | Original paper pedigree label: WZ4\-IV\-2 | | 586 | 11778 | m.11778G\>A | G11778A\-F315 | G11778A\-F315\-IV1 | Fam | M | Y | Y | A | 17 | Homo | / | / | / | LHON; onset age 15; bilateral visual impairment; visual acuity 0\.05 both eyes | Original paper pedigree label: WZ5\-IV\-1 | | 587 | 11778 | m.11778G\>A | G11778A\-F316 | G11778A\-F316\-III1 | Fam | M | Y | Y | A | 20 | Homo | / | / | / | LHON; onset age 17; visual acuity below 0\.01 both eyes | Original paper pedigree label: WZ6\-III\-1 | | 588 | 11778 | m.11778G\>A | G11778A\-F317 | G11778A\-F317\-II1 | Fam | M | Y | Y | ND | 19 | / | Homo | / | / | Encephalomyopathy; hearing impairment; poor vision; optic atrophy; seizures; ataxia | | | 589 | 11778 | m.11778G\>A | G11778A\-F317 | G11778A\-F317\-II2 | Fam | M | N | Y | ND | 15 | / | Homo | / | / | Encephalomyopathy; hearing impairment; poor vision; optic atrophy; supraventricular tachycardia; ataxia | | | 590 | 11778 | m.11778G\>A | G11778A\-F317 | G11778A\-F317\-II3 | Fam | M | N | Y | ND | 13 | / | Homo | / | / | Encephalomyopathy; hearing impairment; poor vision; optic atrophy; ataxia; neuropathy | | | 591 | 11778 | m.11778G\>A | G11778A\-F317 | G11778A\-F317\-II4 | Fam | F | N | Y | ND | 5 | / | Homo | / | / | Encephalomyopathy; fatigue and dyspnea with infections; dilated cardiomyopathy; brainstem lesions | | | 592 | 11778 | m.11778G\>A | G11778A\-F317 | G11778A\-F317\-II5 | Fam | F | N | ND | ND | ND | Homo | / | / | / | ND | | | 593 | 11778 | m.11778G\>A | G11778A\-F318 | G11778A\-F318\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | LHON | Original ID: Patient 1 | | 594 | 11778 | m.11778G\>A | G11778A\-F319 | G11778A\-F319\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | LHON | Original ID: Patient 7 | | 595 | 11778 | m.11778G\>A | G11778A\-F320 | G11778A\-F320\-P1 | Fam | M | Y | Y | A | 26 | Homo | / | / | / | LHON; baseline first\-eye VA 20/100; baseline fellow\-eye VA 20/10; exit first\-eye VA HM; exit fellow\-eye VA HM | Original ID: Patient P1; enrolled in open\-label brimonidine prophylaxis trial for second\-eye involvement; trial/study\-role text moved from Clinical Features | | 596 | 11778 | m.11778G\>A | G11778A\-F321 | G11778A\-F321\-P1 | Uninf | M | Y | Y | A | 53 | Homo | / | / | / | LHON; baseline first\-eye VA HM; baseline fellow\-eye VA 20/16; exit first\-eye VA CF; exit fellow\-eye VA CF | Original ID: Patient P2; enrolled in open\-label brimonidine prophylaxis trial for second\-eye involvement; trial/study\-role text moved from Clinical Features | | 597 | 11778 | m.11778G\>A | G11778A\-F322 | G11778A\-F322\-P1 | Uninf | M | Y | Y | A | 43 | Homo | / | / | / | LHON; baseline first\-eye VA 20/320; baseline fellow\-eye VA 20/25; exit fellow\-eye VA 20/400 | Original ID: Patient P3; enrolled in open\-label brimonidine prophylaxis trial for second\-eye involvement; trial/study\-role text moved from Clinical Features | | 598 | 11778 | m.11778G\>A | G11778A\-F323 | G11778A\-F323\-P1 | Fam | M | Y | Y | A | 13 | Homo | / | / | / | LHON; baseline first\-eye VA 20/125; baseline fellow\-eye VA 20/16; exit first\-eye VA 20/400; exit fellow\-eye VA 20/800 | Original ID: Patient P4; enrolled in open\-label brimonidine prophylaxis trial for second\-eye involvement; trial/study\-role text moved from Clinical Features | | 599 | 11778 | m.11778G\>A | G11778A\-F324 | G11778A\-F324\-P1 | Fam | M | Y | Y | A | 25 | Homo | / | / | / | LHON; baseline first\-eye VA 20/500; baseline fellow\-eye VA 20/16; exit first\-eye VA 20/80; exit fellow\-eye VA 20/40 | Original ID: Patient P6; enrolled in open\-label brimonidine prophylaxis trial for second\-eye involvement; trial/study\-role text moved from Clinical Features | | 600 | 11778 | m.11778G\>A | G11778A\-F325 | G11778A\-F325\-P1 | Uninf | M | Y | Y | A | 16 | Homo | / | / | / | LHON; baseline first\-eye VA 20/125; baseline fellow\-eye VA 20/25; exit first\-eye VA 20/640; exit fellow\-eye VA 20/500 | Original ID: Patient P7; enrolled in open\-label brimonidine prophylaxis trial for second\-eye involvement; trial/study\-role text moved from Clinical Features | | 601 | 11778 | m.11778G\>A | G11778A\-F326 | G11778A\-F326\-P1 | Fam | F | Y | Y | A | 41 | Homo | / | / | / | LHON; baseline first\-eye VA 20/125; baseline fellow\-eye VA 20/16; exit first\-eye VA CF; exit fellow\-eye VA CF | Original ID: Patient P8; enrolled in open\-label brimonidine prophylaxis trial for second\-eye involvement; trial/study\-role text moved from Clinical Features | | 602 | 11778 | m.11778G\>A | G11778A\-F327 | G11778A\-F327\-P1 | Uninf | M | Y | Y | A | 27 | Homo | / | / | / | LHON; baseline first\-eye VA 20/200; baseline fellow\-eye VA 20/20; exit first\-eye VA 20/250; exit fellow\-eye VA 20/100 | Original ID: Patient P9; enrolled in open\-label brimonidine prophylaxis trial for second\-eye involvement; trial/study\-role text moved from Clinical Features | | 603 | 11778 | m.11778G\>A | G11778A\-F328 | G11778A\-F328\-II1 | Fam | F | N | N | ND | 10 | / | / | / | Homo(H) | Healthy | Original carrier identifier: Sibling\-10 | | 604 | 11778 | m.11778G\>A | G11778A\-F328 | G11778A\-F328\-II2 | Fam | M | N | N | ND | 13 | / | / | / | Homo(H) | Healthy | Original carrier identifier: Sibling\-13 | | 605 | 11778 | m.11778G\>A | G11778A\-F328 | G11778A\-F328\-II3 | Fam | F | N | N | ND | 18 | / | / | / | Homo(H) | Healthy | Original carrier identifier: Sibling\-18 | | 606 | 11778 | m.11778G\>A | G11778A\-F328 | G11778A\-F328\-II4 | Fam | F | N | N | ND | 20 | / | / | / | Homo(H) | Healthy | Original carrier identifier: Sibling\-20 | | 607 | 11778 | m.11778G\>A | G11778A\-F328 | G11778A\-F328\-II5 | Fam | F | N | N | ND | 23 | / | / | / | Homo(H) | Healthy | Original carrier identifier: Sibling\-23 | | 608 | 11778 | m.11778G\>A | G11778A\-F328 | G11778A\-F328\-II6 | Fam | F | N | N | ND | 25 | / | / | / | Homo(H) | Healthy | Original carrier identifier: Sibling\-25 | | 609 | 11778 | m.11778G\>A | G11778A\-F328 | G11778A\-F328\-II7 | Fam | M | N | N | ND | 31 | / | / | / | Homo(H) | Healthy | Original carrier identifier: Sibling\-31 | | 610 | 11778 | m.11778G\>A | G11778A\-F328 | G11778A\-F328\-II8 | Fam | M | N | N | ND | 33 | / | / | / | Homo(H) | Healthy | Original carrier identifier: Sibling\-33 | | 611 | 11778 | m.11778G\>A | G11778A\-F328 | G11778A\-F328\-II9 | Fam | M | Y | Y | A | 34 | Homo | / | / | Homo(H) | LHON; bilateral optic atrophy; central scotomas; severe visual loss | Original carrier identifier: Propositus\-34 | | 612 | 11778 | m.11778G\>A | G11778A\-F328 | G11778A\-F328\-II10 | Fam | F | N | N | ND | 52 | / | / | / | Homo(H) | Healthy | | | 613 | 11778 | m.11778G\>A | G11778A\-F329 | G11778A\-F329\-III1 | Fam | M | Y | Y | A | 18 | Homo | / | / | / | LHON; onset age 12; painless progressive bilateral visual impairment; profound visual loss | Coexisting variant: A4435G | | 614 | 11778 | m.11778G\>A | G11778A\-F329 | G11778A\-F329\-II1 | Fam | F | N | N | A | 46 | Homo | / | / | / | Healthy | Coexisting variant: A4435G | | 615 | 11778 | m.11778G\>A | G11778A\-F329 | G11778A\-F329\-III2 | Fam | M | N | N | A | 7 | Homo | / | / | / | Healthy | Coexisting variant: A4435G | | 616 | 11778 | m.11778G\>A | G11778A\-F329 | G11778A\-F329\-II2 | Fam | F | N | N | A | 35 | Homo | / | / | / | Healthy | | | 617 | 11778 | m.11778G\>A | G11778A\-F330 | G11778A\-F330\-II1 | Fam | M | Y | Y | A | 26 | Homo | / | / | / | LHON; severe visual impairment; bilateral visual loss; central scotoma; papill oedema and telangiectatic microangiopathy | Original ID: Patient 1 | | 618 | 11778 | m.11778G\>A | G11778A\-F330 | G11778A\-F330\-II2 | Fam | M | N | Y | A | 25 | Homo | / | / | / | LHON; sudden bilateral visual loss at age 17; VA 0\.01 | Original ID: Patient 2, Patient 1 | | 619 | 11778 | m.11778G\>A | G11778A\-F330 | G11778A\-F330\-II3 | Fam | F | N | N | A | 50 | Homo | / | / | / | Healthy | Original ID: Patient 1 | | 620 | 11778 | m.11778G\>A | G11778A\-F330 | G11778A\-F330\-II4 | Fam | F | N | N | A | 53 | Homo | / | / | / | Healthy | Original ID: Patient 2 | | 621 | 11778 | m.11778G\>A | G11778A\-F330 | G11778A\-F330\-II5 | Fam | F | N | N | A | ND | 20% | / | / | / | Healthy | Original ID: Patient 2 | | 622 | 11778 | m.11778G\>A | G11778A\-F331 | G11778A\-F331\-II1 | Fam | M | Y | Y | A | 26 | Homo | / | / | / | LHON; bilateral visual loss; central scotomas; papill oedema | Original ID: Patient 3 | | 623 | 11778 | m.11778G\>A | G11778A\-F331 | G11778A\-F331\-II2 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy; arterial hypertension | Original ID: Patient 3 | | 624 | 11778 | m.11778G\>A | G11778A\-F331 | G11778A\-F331\-II3 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Original ID: Patient 3 | | 625 | 11778 | m.11778G\>A | G11778A\-F331 | G11778A\-F331\-II4 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Original ID: Patient 3 | | 626 | 11778 | m.11778G\>A | G11778A\-F331 | G11778A\-F331\-II5 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | | | 627 | 11778 | m.11778G\>A | G11778A\-F331 | G11778A\-F331\-II6 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | | | 628 | 11778 | m.11778G\>A | G11778A\-F332 | G11778A\-F332\-I1 | Uninf | F | N | N | ND | 65 | Homo | / | / | / | Healthy | | | 629 | 11778 | m.11778G\>A | G11778A\-F332 | G11778A\-F332\-II1 | Fam | F | N | Y | ND | 45 | Homo | / | / | / | LHON; mild visual impairment | | | 630 | 11778 | m.11778G\>A | G11778A\-F332 | G11778A\-F332\-II2 | Fam | F | N | Y | ND | 38 | Homo | / | / | / | LHON; moderate visual impairment | | | 631 | 11778 | m.11778G\>A | G11778A\-F332 | G11778A\-F332\-II3 | Fam | F | N | N | ND | 34 | Homo | / | / | / | Healthy | | | 632 | 11778 | m.11778G\>A | G11778A\-F332 | G11778A\-F332\-II4 | Fam | M | Y | Y | ND | 39 | Homo | / | / | / | LHON; moderate visual impairment | | | 633 | 11778 | m.11778G\>A | G11778A\-F332 | G11778A\-F332\-II5 | Fam | M | N | Y | ND | 37 | Homo | / | / | / | LHON; severe visual impairment | | | 634 | 11778 | m.11778G\>A | G11778A\-F332 | G11778A\-F332\-III1 | Fam | M | N | Y | ND | 23 | Homo | / | / | / | LHON; profound visual impairment | | | 635 | 11778 | m.11778G\>A | G11778A\-F332 | G11778A\-F332\-III2 | Fam | F | N | N | ND | 18 | Homo | / | / | / | Healthy | | | 636 | 11778 | m.11778G\>A | G11778A\-F332 | G11778A\-F332\-III3 | Fam | M | N | Y | ND | 20 | Homo | / | / | / | LHON; severe visual impairment | | | 637 | 11778 | m.11778G\>A | G11778A\-F332 | G11778A\-F332\-III4 | Fam | F | N | N | ND | 12 | Homo | / | / | / | Healthy | | | 638 | 11778 | m.11778G\>A | G11778A\-F333 | G11778A\-F333\-P1 | Uninf | M | Y | Y | ND | 36 | / | / | / | / | Bilateral optic neuropathy/LHON; malnutrition; alcohol and tobacco exposure; visual acuity reduced | Original ID: Case grammar | | 639 | 11778 | m.11778G\>A | G11778A\-F334 | G11778A\-F334\-P1 | Uninf | M | Y | Y | A | 17 | Homo | / | / | / | LHON\-like optic neuropathy; CF 5 ft OD; 20/400 OS; cecocentral scotomas | | | 640 | 11778 | m.11778G\>A | G11778A\-F335 | G11778A\-F335\-P1 | Uninf | M | Y | Y | A | 20 | Homo | / | / | / | LHON\-like optic neuropathy; 20/80 OD; CF 5 ft OS; cecocentral scotomas | | | 641 | 11778 | m.11778G\>A | G11778A\-F336 | G11778A\-F336\-P1 | Uninf | M | Y | Y | A | 17 | Homo | / | / | / | LHON\-like optic neuropathy; CF 5 ft OD; 20/400 OS; central scotomas | | | 642 | 11778 | m.11778G\>A | G11778A\-F337 | G11778A\-F337\-P1 | Uninf | M | Y | Y | A | 8 | Homo | / | / | / | LHON\-like optic neuropathy; CF 5 ft OD; 20/400 OS; cecocentral scotomas | | | 643 | 11778 | m.11778G\>A | G11778A\-F338 | G11778A\-F338\-II1 | Fam | ND | N | ND | ND | ND | 18% | / | / | / | Possible fundus abnormality/no vision loss | | | 644 | 11778 | m.11778G\>A | G11778A\-F338 | G11778A\-F338\-II2 | Fam | ND | N | N | ND | ND | 34% | / | / | / | Healthy | | | 645 | 11778 | m.11778G\>A | G11778A\-F338 | G11778A\-F338\-II3 | Fam | ND | N | N | ND | ND | 31% | / | / | / | Healthy | | | 646 | 11778 | m.11778G\>A | G11778A\-F338 | G11778A\-F338\-II4 | Fam | ND | N | N | ND | ND | 46% | / | / | / | Healthy | | | 647 | 11778 | m.11778G\>A | G11778A\-F338 | G11778A\-F338\-II5 | Fam | ND | N | N | ND | ND | Homo | / | / | / | Healthy | | | 648 | 11778 | m.11778G\>A | G11778A\-F338 | G11778A\-F338\-II6 | Fam | ND | N | N | ND | ND | 70% | / | / | / | Healthy | | | 649 | 11778 | m.11778G\>A | G11778A\-F338 | G11778A\-F338\-II7 | Fam | ND | N | N | ND | ND | 48% | / | / | / | Healthy | | | 650 | 11778 | m.11778G\>A | G11778A\-F338 | G11778A\-F338\-II8 | Fam | ND | N | Y | ND | ND | Homo | / | / | / | LHON | | | 651 | 11778 | m.11778G\>A | G11778A\-F338 | G11778A\-F338\-II9 | Fam | ND | N | N | ND | ND | 76% | / | / | / | Healthy | | | 652 | 11778 | m.11778G\>A | G11778A\-F338 | G11778A\-F338\-II10 | Fam | ND | N | N | ND | ND | 70% | / | / | / | Healthy | | | 653 | 11778 | m.11778G\>A | G11778A\-F338 | G11778A\-F338\-II11 | Fam | ND | Y | Y | ND | ND | Homo | / | / | / | LHON | | | 654 | 11778 | m.11778G\>A | G11778A\-F338 | G11778A\-F338\-II12 | Fam | ND | N | N | ND | ND | Homo | / | / | / | Healthy | | | 655 | 11778 | m.11778G\>A | G11778A\-F338 | G11778A\-F338\-II13 | Fam | ND | N | N | ND | ND | 57% | / | / | / | Healthy | | | 656 | 11778 | m.11778G\>A | G11778A\-F338 | G11778A\-F338\-II14 | Fam | ND | N | N | ND | ND | 55% | / | / | / | Healthy | | | 657 | 11778 | m.11778G\>A | G11778A\-F338 | G11778A\-F338\-II15 | Fam | ND | N | N | ND | ND | Homo | / | / | / | Healthy | | | 658 | 11778 | m.11778G\>A | G11778A\-F339 | G11778A\-F339\-II1 | Fam | ND | N | N | ND | ND | 4% | / | / | / | Healthy | | | 659 | 11778 | m.11778G\>A | G11778A\-F339 | G11778A\-F339\-II2 | Fam | ND | N | N | ND | ND | 37% | / | / | / | Healthy | | | 660 | 11778 | m.11778G\>A | G11778A\-F339 | G11778A\-F339\-II3 | Fam | ND | N | N | ND | ND | 3% | / | / | / | Healthy | | | 661 | 11778 | m.11778G\>A | G11778A\-F339 | G11778A\-F339\-II4 | Fam | ND | N | N | ND | ND | 59% | / | / | / | Healthy | | | 662 | 11778 | m.11778G\>A | G11778A\-F339 | G11778A\-F339\-II5 | Fam | ND | N | N | ND | ND | 44% | / | / | / | Healthy | | | 663 | 11778 | m.11778G\>A | G11778A\-F339 | G11778A\-F339\-II6 | Fam | ND | N | N | ND | ND | Homo | / | / | / | Healthy | | | 664 | 11778 | m.11778G\>A | G11778A\-F339 | G11778A\-F339\-II7 | Fam | ND | N | N | ND | ND | Homo | / | / | / | Healthy | | | 665 | 11778 | m.11778G\>A | G11778A\-F339 | G11778A\-F339\-II8 | Fam | ND | N | N | ND | ND | 94% | / | / | / | Healthy | | | 666 | 11778 | m.11778G\>A | G11778A\-F339 | G11778A\-F339\-II9 | Fam | ND | Y | Y | ND | ND | Homo | / | / | / | LHON | | | 667 | 11778 | m.11778G\>A | G11778A\-F339 | G11778A\-F339\-II10 | Fam | ND | N | N | ND | ND | 1% | / | / | / | Healthy | | | 668 | 11778 | m.11778G\>A | G11778A\-F339 | G11778A\-F339\-II11 | Fam | ND | N | N | ND | ND | 76% | / | / | / | Healthy | | | 669 | 11778 | m.11778G\>A | G11778A\-F339 | G11778A\-F339\-II12 | Fam | ND | N | N | ND | ND | Homo | / | / | / | Healthy | | | 670 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II1 | Fam | ND | N | ND | ND | ND | 44% | / | / | / | Possible fundus abnormality/no vision loss | | | 671 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II2 | Fam | ND | N | Y | ND | ND | 85% | / | / | / | LHON | | | 672 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II3 | Fam | ND | N | Y | ND | ND | Homo | / | / | / | LHON | | | 673 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II4 | Fam | ND | N | N | ND | ND | Homo | / | / | / | Healthy | | | 674 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II5 | Fam | ND | N | N | ND | ND | 46% | / | / | / | Healthy | | | 675 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II6 | Fam | ND | N | Y | ND | ND | Homo | / | / | / | LHON | | | 676 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II7 | Fam | ND | N | N | ND | ND | 31% | / | / | / | Healthy | | | 677 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II8 | Fam | ND | N | N | ND | ND | 26% | / | / | / | Healthy | | | 678 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II9 | Fam | ND | N | N | ND | ND | 23% | / | / | / | Healthy | | | 679 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II10 | Fam | ND | N | Y | ND | ND | 99% | / | / | / | LHON | | | 680 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II11 | Fam | ND | N | Y | ND | ND | Homo | / | / | / | LHON | | | 681 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II12 | Fam | ND | N | N | ND | ND | Homo | / | / | / | Healthy | | | 682 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II13 | Fam | ND | N | Y | ND | ND | Homo | / | / | / | LHON | | | 683 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II14 | Fam | ND | N | Y | ND | ND | Homo | / | / | / | LHON | | | 684 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II15 | Fam | ND | N | Y | ND | ND | Homo | / | / | / | LHON | | | 685 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II16 | Fam | ND | N | N | ND | ND | Homo | / | / | / | Healthy | | | 686 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II17 | Fam | ND | N | N | ND | ND | Homo | / | / | / | Healthy | | | 687 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II18 | Fam | ND | N | N | ND | ND | 70% | / | / | / | Healthy | | | 688 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II19 | Fam | ND | Y | Y | ND | ND | Homo | / | / | / | LHON | | | 689 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II20 | Fam | ND | N | N | ND | ND | Homo | / | / | / | Healthy | | | 690 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II21 | Fam | ND | N | N | ND | ND | Homo | / | / | / | Healthy | | | 691 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II22 | Fam | ND | N | N | ND | ND | Homo | / | / | / | Healthy | | | 692 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II23 | Fam | ND | N | N | ND | ND | 7% | / | / | / | Healthy | | | 693 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II24 | Fam | ND | N | N | ND | ND | 42% | / | / | / | Healthy | | | 694 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II25 | Fam | ND | N | N | ND | ND | Homo | / | / | / | Healthy | | | 695 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II26 | Fam | ND | N | N | ND | ND | Homo | / | / | / | Healthy | | | 696 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II27 | Fam | ND | N | N | ND | ND | Homo | / | / | / | Healthy | | | 697 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II28 | Fam | ND | N | N | ND | ND | Homo | / | / | / | Healthy | | | 698 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II29 | Fam | ND | N | N | ND | ND | Homo | / | / | / | Healthy | | | 699 | 11778 | m.11778G\>A | G11778A\-F340 | G11778A\-F340\-II30 | Fam | ND | N | N | ND | ND | Homo | / | / | / | Healthy | | | 700 | 11778 | m.11778G\>A | G11778A\-F341 | G11778A\-F341\-II1 | Fam | ND | N | N | ND | ND | Homo | / | / | / | Healthy | | | 701 | 11778 | m.11778G\>A | G11778A\-F341 | G11778A\-F341\-II2 | Fam | ND | N | N | ND | ND | Homo | / | / | / | Healthy | | | 702 | 11778 | m.11778G\>A | G11778A\-F341 | G11778A\-F341\-II3 | Fam | ND | N | Y | ND | ND | Homo | / | / | / | LHON | | | 703 | 11778 | m.11778G\>A | G11778A\-F341 | G11778A\-F341\-II4 | Fam | ND | N | Y | ND | ND | Homo | / | / | / | LHON | | | 704 | 11778 | m.11778G\>A | G11778A\-F341 | G11778A\-F341\-II5 | Fam | ND | N | Y | ND | ND | Homo | / | / | / | LHON | | | 705 | 11778 | m.11778G\>A | G11778A\-F341 | G11778A\-F341\-II6 | Fam | ND | N | N | ND | ND | Homo | / | / | / | Healthy | | | 706 | 11778 | m.11778G\>A | G11778A\-F341 | G11778A\-F341\-II7 | Fam | ND | N | Y | ND | ND | Homo | / | / | / | LHON | | | 707 | 11778 | m.11778G\>A | G11778A\-F341 | G11778A\-F341\-II8 | Fam | ND | N | ND | ND | ND | Homo | / | / | / | Possible fundus abnormality/no vision loss | | | 708 | 11778 | m.11778G\>A | G11778A\-F341 | G11778A\-F341\-II9 | Fam | ND | N | Y | ND | ND | Homo | / | / | / | LHON | | | 709 | 11778 | m.11778G\>A | G11778A\-F341 | G11778A\-F341\-II10 | Fam | ND | N | Y | ND | ND | Homo | / | / | / | LHON | | | 710 | 11778 | m.11778G\>A | G11778A\-F341 | G11778A\-F341\-II11 | Fam | ND | N | N | ND | ND | Homo | / | / | / | Healthy | | | 711 | 11778 | m.11778G\>A | G11778A\-F341 | G11778A\-F341\-II12 | Fam | ND | N | N | ND | ND | Homo | / | / | / | Healthy | | | 712 | 11778 | m.11778G\>A | G11778A\-F341 | G11778A\-F341\-II13 | Fam | ND | N | N | ND | ND | Homo | / | / | / | Healthy | | | 713 | 11778 | m.11778G\>A | G11778A\-F341 | G11778A\-F341\-II14 | Fam | ND | N | ND | ND | ND | Homo | / | / | / | Possible fundus abnormality/no vision loss | | | 714 | 11778 | m.11778G\>A | G11778A\-F341 | G11778A\-F341\-II15 | Fam | ND | Y | Y | ND | ND | Homo | / | / | / | LHON | | | 715 | 11778 | m.11778G\>A | G11778A\-F342 | G11778A\-F342\-II1 | Fam | F | N | N | ND | 70 | Homo | / | / | / | Healthy | | | 716 | 11778 | m.11778G\>A | G11778A\-F342 | G11778A\-F342\-III1 | Fam | F | N | N | ND | 65 | Homo | / | / | / | Healthy | | | 717 | 11778 | m.11778G\>A | G11778A\-F342 | G11778A\-F342\-III2 | Fam | F | N | Y | ND | 62 | Homo | / | / | / | LHON; profound visual loss | | | 718 | 11778 | m.11778G\>A | G11778A\-F342 | G11778A\-F342\-III3 | Fam | M | N | N | ND | 55 | Homo | / | / | / | Healthy | | | 719 | 11778 | m.11778G\>A | G11778A\-F342 | G11778A\-F342\-III4 | Fam | F | N | Y | ND | 54 | Homo | / | / | / | LHON; profound visual loss | | | 720 | 11778 | m.11778G\>A | G11778A\-F342 | G11778A\-F342\-III5 | Fam | M | N | N | ND | 50 | Homo | / | / | / | Healthy | | | 721 | 11778 | m.11778G\>A | G11778A\-F342 | G11778A\-F342\-III6 | Fam | F | N | N | ND | 37 | Homo | / | / | / | Healthy | | | 722 | 11778 | m.11778G\>A | G11778A\-F342 | G11778A\-F342\-III7 | Fam | F | N | N | ND | 50 | Homo | / | / | / | Healthy | | | 723 | 11778 | m.11778G\>A | G11778A\-F342 | G11778A\-F342\-III8 | Fam | M | N | N | ND | 41 | Homo | / | / | / | Healthy | | | 724 | 11778 | m.11778G\>A | G11778A\-F342 | G11778A\-F342\-III9 | Fam | F | N | N | ND | 38 | Homo | / | / | / | Healthy | | | 725 | 11778 | m.11778G\>A | G11778A\-F342 | G11778A\-F342\-III10 | Fam | M | N | Y | ND | 35 | Homo | / | / | / | LHON; profound visual loss | | | 726 | 11778 | m.11778G\>A | G11778A\-F342 | G11778A\-F342\-IV1 | Fam | M | N | Y | ND | 40 | Homo | / | / | / | LHON; mild visual loss | | | 727 | 11778 | m.11778G\>A | G11778A\-F342 | G11778A\-F342\-IV2 | Fam | M | N | N | ND | 38 | Homo | / | / | / | Healthy | | | 728 | 11778 | m.11778G\>A | G11778A\-F342 | G11778A\-F342\-IV3 | Fam | M | Y | Y | ND | 33 | Homo | / | / | / | LHON; moderate visual loss | | | 729 | 11778 | m.11778G\>A | G11778A\-F342 | G11778A\-F342\-IV4 | Fam | M | N | N | ND | 33 | Homo | / | / | / | Healthy | | | 730 | 11778 | m.11778G\>A | G11778A\-F342 | G11778A\-F342\-IV5 | Fam | M | N | Y | ND | 43 | Homo | / | / | / | LHON; mild visual loss | | | 731 | 11778 | m.11778G\>A | G11778A\-F342 | G11778A\-F342\-IV6 | Fam | M | N | Y | ND | 40 | Homo | / | / | / | LHON; profound visual loss | | | 732 | 11778 | m.11778G\>A | G11778A\-F342 | G11778A\-F342\-IV7 | Fam | F | N | N | ND | 36 | Homo | / | / | / | Healthy | | | 733 | 11778 | m.11778G\>A | G11778A\-F342 | G11778A\-F342\-IV8 | Fam | F | N | Y | ND | 33 | Homo | / | / | / | LHON; mild visual loss | | | 734 | 11778 | m.11778G\>A | G11778A\-F342 | G11778A\-F342\-IV9 | Fam | M | N | Y | ND | 29 | Homo | / | / | / | LHON; severe visual loss | | | 735 | 11778 | m.11778G\>A | G11778A\-F342 | G11778A\-F342\-IV10 | Fam | F | N | N | ND | 26 | Homo | / | / | / | Healthy | | | 736 | 11778 | m.11778G\>A | G11778A\-F342 | G11778A\-F342\-IV11 | Fam | M | N | N | ND | 11 | Homo | / | / | / | Healthy | | | 737 | 11778 | m.11778G\>A | G11778A\-F342 | G11778A\-F342\-IV12 | Fam | M | N | Y | ND | 28 | Homo | / | / | / | LHON; profound visual loss | | | 738 | 11778 | m.11778G\>A | G11778A\-F342 | G11778A\-F342\-IV13 | Fam | F | N | N | ND | 26 | Homo | / | / | / | Healthy | | | 739 | 11778 | m.11778G\>A | G11778A\-F342 | G11778A\-F342\-IV14 | Fam | M | N | N | ND | 11 | Homo | / | / | / | Healthy | | | 740 | 11778 | m.11778G\>A | G11778A\-F343 | G11778A\-F343\-III1 | Fam | M | Y | Y | A | 27 | Homo | / | / | / | LHON; acute/subacute bilateral central visual loss; optic neuropathy | Occupational n\-hexane/toluene/organic solvent exposure and moderate smoking were reported as possible triggers; exposure history is non\-clinical and was removed from Clinical Features | | 741 | 11778 | m.11778G\>A | G11778A\-F343 | G11778A\-F343\-II1 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | | | 742 | 11778 | m.11778G\>A | G11778A\-F343 | G11778A\-F343\-III2 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | | | 743 | 11778 | m.11778G\>A | G11778A\-F343 | G11778A\-F343\-III3 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy | | | 744 | 11778 | m.11778G\>A | G11778A\-F344 | G11778A\-F344\-P1 | Uninf | M | Y | Y | A | 30 | Homo | / | / | / | LHON; right\-eye visual loss progressing to bilateral optic atrophy; RAPD; central visual loss | Original ID: Case 1; Special history/medication: Case 1; idebenone/multivitamin treatment did not restore vision | | 745 | 11778 | m.11778G\>A | G11778A\-F345 | G11778A\-F345\-P1 | Fam | F | Y | Y | A | 19 | Homo | / | / | / | LHON; left\-eye visual loss progressing to bilateral optic atrophy; RAPD; central visual field defects | Original ID: Case 2 | | 746 | 11778 | m.11778G\>A | G11778A\-F346 | G11778A\-F346\-II1 | Fam | F | Y | Y | ND | 22 | / | 86\.2% | / | / | Progressive dystonia from 17 months; bilateral putaminal necrosis; complex I deficiency; no optic atrophy | Original ID: Patient 1; Coexisting variant: m.4716C\>G | | 747 | 11778 | m.11778G\>A | G11778A\-F346 | G11778A\-F346\-II2 | Fam | M | N | Y | ND | 19 | 86\.6% | / | / | / | Progressive dystonia from age 3; wheelchair dependent; basal ganglia lesions; no visual impairment | Original ID: Patient 2 | | 748 | 11778 | m.11778G\>A | G11778A\-F346 | G11778A\-F346\-II3 | Fam | F | N | N | ND | ND | 85\.7% | / | / | / | Healthy | | | 749 | 11778 | m.11778G\>A | G11778A\-F347 | G11778A\-F347\-P1 | Uninf | M | Y | Y | ND | 35 | 100% | / | / | / | LHON; visual loss onset at 22 years; difficulty hearing speech in crowded environments | Original ID: Patient A | | 750 | 11778 | m.11778G\>A | G11778A\-F348 | G11778A\-F348\-P1 | Uninf | M | Y | Y | ND | 35 | 100% | / | / | / | LHON; visual loss onset not available; difficulty hearing speech in crowded environments; childhood otitis media history | Original ID: Patient B | | 751 | 11778 | m.11778G\>A | G11778A\-F349 | G11778A\-F349\-P1 | Uninf | M | Y | Y | ND | 35 | 100% | / | / | / | LHON; visual loss onset at 20 years; difficulty hearing speech in crowded environments; childhood ear infections | Original ID: Patient E | | 752 | 11778 | m.11778G\>A | G11778A\-F350 | G11778A\-F350\-P1 | Uninf | M | Y | Y | ND | 27 | 100% | / | / | / | LHON; visual loss onset at 10 years; no current hearing symptoms reported | Original ID: Patient G | | 753 | 11778 | m.11778G\>A | G11778A\-F351 | G11778A\-F351\-P1 | Fam | M | Y | Y | ND | 27 | 95% | / | / | / | LHON; visual loss onset at 18 years; no current hearing symptoms reported | Original ID: Patient I | | 754 | 11778 | m.11778G\>A | G11778A\-F352 | G11778A\-F352\-IV1 | Fam | F | N | Y | A | ND | Homo | / | / | / | LHON; migraine without aura | | | 755 | 11778 | m.11778G\>A | G11778A\-F352 | G11778A\-F352\-V1 | Fam | M | N | Y | A | ND | Homo | / | / | / | LHON; migraine without aura | | | 756 | 11778 | m.11778G\>A | G11778A\-F352 | G11778A\-F352\-V2 | Fam | M | N | Y | A | ND | Homo | / | / | / | LHON; migraine without aura | | | 757 | 11778 | m.11778G\>A | G11778A\-F352 | G11778A\-F352\-V3 | Fam | F | Y | Y | A | 45 | Homo | Homo | / | / | LHON; myoclonus; migraine; psychiatric features; muscle cramps | | | 758 | 11778 | m.11778G\>A | G11778A\-F352 | G11778A\-F352\-V4 | Fam | F | N | Y | A | ND | Homo | Homo | / | / | LHON; migraine without aura; myoclonus | | | 759 | 11778 | m.11778G\>A | G11778A\-F352 | G11778A\-F352\-V5 | Fam | F | N | Y | A | ND | Homo | / | / | / | LHON; migraine without aura | | | 760 | 11778 | m.11778G\>A | G11778A\-F352 | G11778A\-F352\-VI1 | Fam | M | N | Y | A | ND | Homo | Homo | / | / | LHON; migraine without aura; myoclonus; basal ganglia calcifications | | | 761 | 11778 | m.11778G\>A | G11778A\-F352 | G11778A\-F352\-VI2 | Fam | M | N | Y | A | ND | Homo | / | / | / | LHON; migraine without aura | | | 762 | 11778 | m.11778G\>A | G11778A\-F352 | G11778A\-F352\-VI3 | Fam | M | N | Y | A | ND | Homo | Homo | / | / | LHON; migraine without aura; myoclonus | | | 763 | 11778 | m.11778G\>A | G11778A\-F352 | G11778A\-F352\-VI4 | Fam | M | N | Y | A | ND | Homo | / | / | / | LHON; migraine without aura | | | 764 | 11778 | m.11778G\>A | G11778A\-F353 | G11778A\-F353\-P1 | Uninf | ND | Y | N | A | newborn | 100% | / | / | / | Healthy | Original carrier identifier: Subject 3530\-1 | | 765 | 11778 | m.11778G\>A | G11778A\-F354 | G11778A\-F354\-P1 | Uninf | ND | Y | N | A | newborn | 74\.8% | / | / | / | Healthy | Original carrier identifier: Subject 5841\-1 | | 766 | 11778 | m.11778G\>A | G11778A\-F355 | G11778A\-F355\-P1 | Uninf | ND | Y | N | A | newborn | 56\.5% | / | / | / | Healthy | Original carrier identifier: Subject 0282\-1 | | 767 | 11778 | m.11778G\>A | G11778A\-F356 | G11778A\-F356\-P1 | Uninf | F | Y | Y | ND | 12 | Homo | / | / | / | Lifelong bilateral poor vision; diffuse optic atrophy; cecocentral scotomas; small chiasm | Original ID: Patient 18 | | 768 | 11778 | m.11778G\>A | G11778A\-F357 | G11778A\-F357\-III10 | Fam | M | Y | Y | ND | ND | / | / | / | / | LHON; severe vision loss | | | 769 | 11778 | m.11778G\>A | G11778A\-F358 | G11778A\-F358\-II1 | Fam | M | Y | Y | A | 31 | / | / | / | 100%(ND) | LHON\-MSL; bilateral central vision loss, white matter disease, paresthesias, pyramidal signs, CSF oligoclonal bands, blindness | Original carrier identifier: Case as | | 770 | 11778 | m.11778G\>A | G11778A\-F358 | G11778A\-F358\-II2 | Fam | F | N | N | A | 62 | / | / | / | Homo(ND) | Healthy; normal optic fundus | | | 771 | 11778 | m.11778G\>A | G11778A\-F359 | G11778A\-F359\-P1 | Fam | M | Y | Y | A | 22 | Homo | Homo | / | Homo(Orbicularis oculi muscle) | PEO; optic atrophy; ptosis; external ophthalmoplegia; mitochondrial myopathy; severe visual loss | | | 772 | 11778 | m.11778G\>A | G11778A\-F360 | G11778A\-F360\-P1 | Uninf | M | Y | Y | ND | ND | / | / | / | / | Typical LHON; bilateral visual loss onset between 8 and 20 years; VA about 20/400 OU; central scotomas; optic atrophy | Original ID: Patient s | | 773 | 11778 | m.11778G\>A | G11778A\-F361 | G11778A\-F361\-P1 | Uninf | M | Y | Y | ND | ND | / | / | / | / | Typical LHON; bilateral visual loss onset between 8 and 20 years; VA about 20/400 OU; central scotomas; optic atrophy | Original ID: Patient s | | 774 | 11778 | m.11778G\>A | G11778A\-F362 | G11778A\-F362\-P1 | Uninf | M | Y | Y | ND | ND | / | / | / | / | Typical LHON; bilateral visual loss onset between 8 and 20 years; VA about 20/400 OU; central scotomas; optic atrophy | Original ID: Patient s | | 775 | 11778 | m.11778G\>A | G11778A\-F363 | G11778A\-F363\-P1 | Uninf | M | Y | Y | ND | ND | / | / | / | / | Typical LHON; bilateral visual loss onset between 8 and 20 years; VA about 20/400 OU; central scotomas; optic atrophy | Original ID: Patient s | | 776 | 11778 | m.11778G\>A | G11778A\-F364 | G11778A\-F364\-II5 | Fam | F | Y | Y | A | 28 | 45% | / | / | / | Profound bilateral SNHL; renal dysfunction; no visual problems | | | 777 | 11778 | m.11778G\>A | G11778A\-F365 | G11778A\-F365\-II1 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy | Original carrier identifier: WZ49\-II1 | | 778 | 11778 | m.11778G\>A | G11778A\-F365 | G11778A\-F365\-I1 | Uninf | F | N | Y | A | ND | Homo | / | / | / | LHON; visual impairment | Original carrier identifier: WZ49\-I2 | | 779 | 11778 | m.11778G\>A | G11778A\-F365 | G11778A\-F365\-II2 | Fam | F | N | Y | A | 30 | Homo | / | / | / | LHON; profoundly impaired vision | Original carrier identifier: WZ49\-II4 | | 780 | 11778 | m.11778G\>A | G11778A\-F365 | G11778A\-F365\-III1 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy | Original carrier identifier: WZ49\-III4 | | 781 | 11778 | m.11778G\>A | G11778A\-F365 | G11778A\-F365\-III2 | Fam | F | N | Y | A | 17 | Homo | / | / | / | LHON; severely impaired vision | Original carrier identifier: WZ49\-III5 | | 782 | 11778 | m.11778G\>A | G11778A\-F365 | G11778A\-F365\-II3 | Fam | F | N | Y | A | 32 | Homo | / | / | / | LHON; severely impaired vision | Original carrier identifier: WZ49\-II6 | | 783 | 11778 | m.11778G\>A | G11778A\-F365 | G11778A\-F365\-III3 | Fam | F | Y | Y | A | 19 | Homo | / | / | / | LHON; bilateral visual deterioration, VA 0\.01/0\.04, centrocecal scotomata, abnormal optic discs | Original carrier identifier: WZ49\-III6 | | 784 | 11778 | m.11778G\>A | G11778A\-F365 | G11778A\-F365\-III4 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy | Original carrier identifier: WZ49\-III7 | | 785 | 11778 | m.11778G\>A | G11778A\-F365 | G11778A\-F365\-III5 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy | Original carrier identifier: WZ49\-III8 | | 786 | 11778 | m.11778G\>A | G11778A\-F366 | G11778A\-F366\-III1 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Original carrier identifier: WZ50\-III1 | | 787 | 11778 | m.11778G\>A | G11778A\-F366 | G11778A\-F366\-I1 | Uninf | F | N | Y | A | 24 | Homo | / | / | / | LHON; severely impaired vision | Original carrier identifier: WZ50\-I2 | | 788 | 11778 | m.11778G\>A | G11778A\-F366 | G11778A\-F366\-II1 | Fam | F | N | Y | A | 22 | Homo | / | / | / | LHON; profoundly impaired vision | Original carrier identifier: WZ50\-II2 | | 789 | 11778 | m.11778G\>A | G11778A\-F366 | G11778A\-F366\-III2 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy | Original carrier identifier: WZ50\-III2 | | 790 | 11778 | m.11778G\>A | G11778A\-F366 | G11778A\-F366\-III3 | Fam | F | Y | Y | A | 21 | Homo | / | / | / | LHON; onset age 20, bilateral visual impairment, VA 0\.03/0\.15, centrocecal scotomata, abnormal optic discs | Original carrier identifier: WZ50\-III3 | | 791 | 11778 | m.11778G\>A | G11778A\-F366 | G11778A\-F366\-II2 | Fam | F | N | Y | A | 22 | Homo | / | / | / | LHON; profoundly impaired vision | Original carrier identifier: WZ50\-II4 | | 792 | 11778 | m.11778G\>A | G11778A\-F366 | G11778A\-F366\-III4 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Original carrier identifier: WZ50\-III4 | | 793 | 11778 | m.11778G\>A | G11778A\-F366 | G11778A\-F366\-II3 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy | Original carrier identifier: WZ50\-II5 | | 794 | 11778 | m.11778G\>A | G11778A\-F366 | G11778A\-F366\-III5 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Original carrier identifier: WZ50\-III5 | | 795 | 11778 | m.11778G\>A | G11778A\-F366 | G11778A\-F366\-III6 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy | Original carrier identifier: WZ50\-III6 | | 796 | 11778 | m.11778G\>A | G11778A\-F366 | G11778A\-F366\-II4 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy | Original carrier identifier: WZ50\-II7 | | 797 | 11778 | m.11778G\>A | G11778A\-F366 | G11778A\-F366\-III7 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Original carrier identifier: WZ50\-III7 | | 798 | 11778 | m.11778G\>A | G11778A\-F367 | G11778A\-F367\-P1 | Uninf | M | Y | Y | ND | 29 | Homo | / | / | / | LHON; severe diffuse disc pallor; central scotoma | Original carrier identifier: LHON 5 | | 799 | 11778 | m.11778G\>A | G11778A\-F368 | G11778A\-F368\-P1 | Uninf | M | Y | Y | A | 63 | 75% | / | / | / | Late\-onset LHON; bilateral visual impairment; sensorineural hearing loss; memory dysfunction | Coexisting variant: coexisting ND1 4136/T277C secondary LHON\-related variant; special history: 40\-year alcohol abuse (0\.75 l/day), denied tobacco and drug abuse | | 800 | 11778 | m.11778G\>A | G11778A\-F369 | G11778A\-F369\-I1 | Uninf | F | N | Y | ND | ND | Near homoplasmy | / | / | / | LHON; severe visual impairment | | | 801 | 11778 | m.11778G\>A | G11778A\-F369 | G11778A\-F369\-II1 | Fam | M | N | Y | ND | ND | Near homoplasmy | / | / | / | LHON; visual impairment | | | 802 | 11778 | m.11778G\>A | G11778A\-F369 | G11778A\-F369\-II2 | Fam | F | Y | Y | ND | 38 | Near homoplasmy | / | / | / | LHON; severe visual impairment; bilateral visual acuity 0\.04; centrocecal scotoma | | | 803 | 11778 | m.11778G\>A | G11778A\-F369 | G11778A\-F369\-II3 | Fam | F | N | Y | ND | ND | Near homoplasmy | / | / | / | LHON; severe visual impairment | | | 804 | 11778 | m.11778G\>A | G11778A\-F369 | G11778A\-F369\-III1 | Fam | M | N | Y | ND | ND | Near homoplasmy | / | / | / | LHON; profound visual loss | | | 805 | 11778 | m.11778G\>A | G11778A\-F369 | G11778A\-F369\-III2 | Fam | F | N | Y | ND | ND | Near homoplasmy | / | / | / | LHON; moderate visual impairment | | | 806 | 11778 | m.11778G\>A | G11778A\-F369 | G11778A\-F369\-III3 | Fam | M | N | Y | ND | ND | Near homoplasmy | / | / | / | LHON; visual impairment | | | 807 | 11778 | m.11778G\>A | G11778A\-F369 | G11778A\-F369\-III4 | Fam | M | N | Y | ND | ND | Near homoplasmy | / | / | / | LHON; profound visual loss | | | 808 | 11778 | m.11778G\>A | G11778A\-F370 | G11778A\-F370\-II1 | Fam | F | N | Y | ND | ND | Near homoplasmy | / | / | / | LHON; profound visual impairment | | | 809 | 11778 | m.11778G\>A | G11778A\-F370 | G11778A\-F370\-II2 | Fam | M | N | Y | ND | ND | Near homoplasmy | / | / | / | LHON; profound visual impairment | | | 810 | 11778 | m.11778G\>A | G11778A\-F370 | G11778A\-F370\-II3 | Fam | F | N | Y | ND | ND | Near homoplasmy | / | / | / | LHON; severe visual impairment | | | 811 | 11778 | m.11778G\>A | G11778A\-F370 | G11778A\-F370\-III1 | Fam | M | N | Y | ND | ND | Near homoplasmy | / | / | / | LHON; severe visual impairment | | | 812 | 11778 | m.11778G\>A | G11778A\-F370 | G11778A\-F370\-III2 | Fam | M | N | Y | ND | ND | Near homoplasmy | / | / | / | LHON; profound visual impairment | | | 813 | 11778 | m.11778G\>A | G11778A\-F370 | G11778A\-F370\-III3 | Fam | M | N | Y | ND | ND | Near homoplasmy | / | / | / | LHON; profound visual impairment | | | 814 | 11778 | m.11778G\>A | G11778A\-F370 | G11778A\-F370\-III4 | Fam | M | N | Y | ND | ND | Near homoplasmy | / | / | / | LHON; severe visual impairment | | | 815 | 11778 | m.11778G\>A | G11778A\-F370 | G11778A\-F370\-III5 | Fam | M | N | Y | ND | ND | Near homoplasmy | / | / | / | LHON; severe visual impairment | | | 816 | 11778 | m.11778G\>A | G11778A\-F370 | G11778A\-F370\-III6 | Fam | F | N | Y | ND | ND | Near homoplasmy | / | / | / | LHON; profound visual impairment | | | 817 | 11778 | m.11778G\>A | G11778A\-F370 | G11778A\-F370\-IV1 | Fam | M | N | Y | ND | ND | Near homoplasmy | / | / | / | LHON; moderate visual impairment | | | 818 | 11778 | m.11778G\>A | G11778A\-F370 | G11778A\-F370\-IV2 | Fam | M | N | Y | ND | ND | Near homoplasmy | / | / | / | LHON; moderate visual impairment | | | 819 | 11778 | m.11778G\>A | G11778A\-F370 | G11778A\-F370\-IV3 | Fam | M | Y | Y | ND | 24 | Near homoplasmy | / | / | / | LHON; severe visual impairment; visual acuity 0\.01 right and 0\.3 left | | | 820 | 11778 | m.11778G\>A | G11778A\-F371 | G11778A\-F371\-III1 | Fam | M | N | Y | ND | 21 | Near homoplasmy | / | / | / | LHON; profound visual impairment | | | 821 | 11778 | m.11778G\>A | G11778A\-F371 | G11778A\-F371\-III2 | Fam | F | Y | Y | ND | 26 | Near homoplasmy | / | / | / | LHON; severe visual impairment; visual acuity 0\.01 right and 0\.05 left | | | 822 | 11778 | m.11778G\>A | G11778A\-F371 | G11778A\-F371\-III3 | Fam | F | N | Y | ND | 25 | Near homoplasmy | / | / | / | LHON; moderate visual impairment | | | 823 | 11778 | m.11778G\>A | G11778A\-F371 | G11778A\-F371\-III4 | Fam | F | N | Y | ND | 28 | Near homoplasmy | / | / | / | LHON; severe visual impairment | | | 824 | 11778 | m.11778G\>A | G11778A\-F372 | G11778A\-F372\-II1 | Fam | F | N | Y | ND | ND | Near homoplasmy | / | / | / | LHON; severe visual impairment | | | 825 | 11778 | m.11778G\>A | G11778A\-F372 | G11778A\-F372\-II2 | Fam | M | N | Y | ND | ND | Near homoplasmy | / | / | / | LHON; profound visual impairment | | | 826 | 11778 | m.11778G\>A | G11778A\-F372 | G11778A\-F372\-III1 | Fam | F | N | Y | ND | ND | Near homoplasmy | / | / | / | LHON; severe visual impairment | | | 827 | 11778 | m.11778G\>A | G11778A\-F372 | G11778A\-F372\-III2 | Fam | F | N | Y | ND | ND | Near homoplasmy | / | / | / | LHON; profound visual impairment | | | 828 | 11778 | m.11778G\>A | G11778A\-F372 | G11778A\-F372\-III3 | Fam | M | N | Y | ND | ND | Near homoplasmy | / | / | / | LHON; moderate visual impairment | | | 829 | 11778 | m.11778G\>A | G11778A\-F372 | G11778A\-F372\-III4 | Fam | M | Y | Y | ND | 19 | Near homoplasmy | / | / | / | LHON; moderate visual impairment; visual acuity 0\.08 right and 0\.1 left | | | 830 | 11778 | m.11778G\>A | G11778A\-F372 | G11778A\-F372\-III5 | Fam | M | N | Y | ND | ND | Near homoplasmy | / | / | / | LHON; moderate visual impairment | | | 831 | 11778 | m.11778G\>A | G11778A\-F373 | G11778A\-F373\-II7 | Fam | M | Y | Y | A | 40 | Near homoplasmy | / | / | / | LHON; Bilateral visual impairment; visual acuity 0\.05 right and 0\.01 left | | | 832 | 11778 | m.11778G\>A | G11778A\-F374 | G11778A\-F374\-III3 | Fam | M | Y | Y | A | 17 | Near homoplasmy | / | / | / | LHON; Bilateral visual impairment; visual acuity 0\.04 right and 0\.06 left | | | 833 | 11778 | m.11778G\>A | G11778A\-F375 | G11778A\-F375\-III6 | Fam | M | Y | Y | A | 17 | Near homoplasmy | / | / | / | LHON; Bilateral visual impairment; onset at 16 years; visual acuity 0\.06 right and 0\.04 left | | | 834 | 11778 | m.11778G\>A | G11778A\-F376 | G11778A\-F376\-III2 | Fam | M | Y | Y | A | 14 | Near homoplasmy | / | / | / | LHON; Bilateral visual impairment; onset at 12 years; visual acuity 0\.06 right and 0\.03 left | | | 835 | 11778 | m.11778G\>A | G11778A\-F377 | G11778A\-F377\-II1 | Fam | F | Y | Y | A | 17 | / | Homo | / | / | Short stature; muscle hypotonia and weakness; developmental and speech delay; hypertrophic cardiomyopathy; mixed conductive/sensorineural hearing loss; chronic ethylmalonic aciduria; CFC syndrome; no reported LHON visual loss | Original ID: Patient 1, Pt PN11 | | 836 | 11778 | m.11778G\>A | G11778A\-F377 | G11778A\-F377\-II2 | Fam | F | N | N | A | 48 | / | / | / | Homo(ND) | No ophthalmological complaints reported | | | 837 | 11778 | m.11778G\>A | G11778A\-F378 | G11778A\-F378\-P1 | Uninf | F | Y | Y | A | 26 | / | / | / | Homo(ND) | Temporal lobe epilepsy; painless bilateral visual loss after presurgical assessment; optic atrophy; depression and psychomotor slowing | Original ID: Case text | | 838 | 11778 | m.11778G\>A | G11778A\-F379 | G11778A\-F379\-II1 | Fam | F | Y | Y | A | 5 | Homo | Homo | / | / | Atypical Leigh syndrome; lethargy; fatigue; gait difficulty; weight gain; basal ganglia and thalamic MRI lesions; no optic atrophy | | | 839 | 11778 | m.11778G\>A | G11778A\-F379 | G11778A\-F379\-II2 | Fam | F | N | N | A | 44 | 56% | / | / | / | Healthy | | | 840 | 11778 | m.11778G\>A | G11778A\-F380 | G11778A\-F380\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | LHON | Original carrier identifier: Le53 | | 841 | 11778 | m.11778G\>A | G11778A\-F381 | G11778A\-F381\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | LHON | Original carrier identifier: Le682 | | 842 | 11778 | m.11778G\>A | G11778A\-F382 | G11778A\-F382\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | LHON | Original carrier identifier: Le840 | | 843 | 11778 | m.11778G\>A | G11778A\-F383 | G11778A\-F383\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | LHON | Original carrier identifier: Le878 | | 844 | 11778 | m.11778G\>A | G11778A\-F384 | G11778A\-F384\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | LHON | Original carrier identifier: Le1192 | | 845 | 11778 | m.11778G\>A | G11778A\-F385 | G11778A\-F385\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | LHON | Original carrier identifier: Le1407 | | 846 | 11778 | m.11778G\>A | G11778A\-F386 | G11778A\-F386\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | LHON | Original carrier identifier: Le1561 | | 847 | 11778 | m.11778G\>A | G11778A\-F387 | G11778A\-F387\-P1 | Fam | ND | Y | Y | ND | ND | / | / | / | / | LHON | Original carrier identifier: Le51 | | 848 | 11778 | m.11778G\>A | G11778A\-F388 | G11778A\-F388\-P1 | Fam | ND | Y | Y | ND | ND | / | / | / | / | LHON | Original carrier identifier: Le251 | | 849 | 11778 | m.11778G\>A | G11778A\-F389 | G11778A\-F389\-P1 | Fam | ND | Y | Y | ND | ND | / | / | / | / | LHON | Original carrier identifier: Le394 | | 850 | 11778 | m.11778G\>A | G11778A\-F390 | G11778A\-F390\-P1 | Fam | ND | Y | Y | ND | ND | / | / | / | / | LHON | Original carrier identifier: Le549 | | 851 | 11778 | m.11778G\>A | G11778A\-F391 | G11778A\-F391\-P1 | Fam | ND | Y | Y | ND | ND | / | / | / | / | LHON | Original carrier identifier: Le554 | | 852 | 11778 | m.11778G\>A | G11778A\-F392 | G11778A\-F392\-P1 | Fam | ND | Y | Y | ND | ND | / | / | / | / | LHON | Original carrier identifier: Le953 | | 853 | 11778 | m.11778G\>A | G11778A\-F393 | G11778A\-F393\-P1 | Fam | ND | Y | Y | ND | ND | / | / | / | / | LHON | Original carrier identifier: Le1120 | | 854 | 11778 | m.11778G\>A | G11778A\-F394 | G11778A\-F394\-P1 | Fam | M | Y | Y | A | 35 years | Homo | / | / | / | Bilateral optic neuropathy; CF at 1 m OU; foveal visual\-field defects; heavy alcohol/tobacco history | Original ID: Patient 8 | | 855 | 11778 | m.11778G\>A | G11778A\-F395 | G11778A\-F395\-P1 | Uninf | M | Y | Y | A | 17 years | Homo | / | / | / | Bilateral optic neuropathy; CF at 1 m OD; foveal visual\-field defect; heavy alcohol/tobacco history | Original ID: Patient 25 | | 856 | 11778 | m.11778G\>A | G11778A\-F396 | G11778A\-F396\-P1 | Uninf | M | Y | Y | A | 24 | / | / | / | Homo(ND) | LHON; visual loss OD 7 months and OS 3 months before baseline; optic atrophy OU; central scotomas | Original ID: Patient 1 | | 857 | 11778 | m.11778G\>A | G11778A\-F397 | G11778A\-F397\-P1 | Uninf | F | Y | Y | A | 52 | / | / | / | Homo(ND) | LHON; acute OD visual loss; prior poor OS from retinal detachments; RNFL swelling; central scotoma | Original ID: Patient 2 | | 858 | 11778 | m.11778G\>A | G11778A\-F398 | G11778A\-F398\-P1 | Fam | M | Y | Y | A | 17 | / | / | / | Homo(ND) | LHON; severe OD visual loss; later OS visual loss; RNFL swelling; central scotomas | Original ID: Patient 3 | | 859 | 11778 | m.11778G\>A | G11778A\-F399 | G11778A\-F399\-II1 | Fam | F | N | Y | A | ND | 70% | / | / | / | Optic neuropathy; mild optic nerve, pons, and cerebellum atrophy; history of subarachnoid hemorrhage | Coexisting variant: homoplasmic T3394C | | 860 | 11778 | m.11778G\>A | G11778A\-F399 | G11778A\-F399\-III1 | Fam | M | Y | Y | A | 37 | 92% | / | / | / | LHON; visual and gait disturbance from age 10; dizziness; diplopia; gaze palsy; nystagmus; dysarthria; cerebellar ataxia; olivocerebellar degeneration | Coexisting variant: T3394C; Coexisting variant: Coexisting mutation\-load note: Proband III\-1; Coexisting variant: coexisting homoplasmic T3394C | | 861 | 11778 | m.11778G\>A | G11778A\-F400 | G11778A\-F400\-P1 | Uninf | F | Y | Y | ND | 1\-16 | / | / | / | / | Dystonia; dementia; pyramidal syndrome; optic atrophy; skeletal myopathy; ptosis | | | 862 | 11778 | m.11778G\>A | G11778A\-F401 | G11778A\-F401\-P1 | Uninf | F | Y | Y | A | 41 | / | / | / | / | LMS; relapsing course; \>20 confluent white matter lesions; MRI MS by all three raters | | | 863 | 11778 | m.11778G\>A | G11778A\-F402 | G11778A\-F402\-P1 | Uninf | M | Y | Y | A | 36 | / | / | / | / | LMS; relapsing course; 1 confluent white matter lesion; MRI MS by all three raters | | | 864 | 11778 | m.11778G\>A | G11778A\-F403 | G11778A\-F403\-P1 | Uninf | M | Y | Y | A | 45 | / | / | / | / | LMS; relapsing course; 3 white matter lesions; MRI MS by all three raters | | | 865 | 11778 | m.11778G\>A | G11778A\-F404 | G11778A\-F404\-P1 | Uninf | F | Y | Y | A | 61 | / | / | / | / | LMS; relapsing course; 2 lesions; MRI MS by 2 of 3 raters | | | 866 | 11778 | m.11778G\>A | G11778A\-F405 | G11778A\-F405\-P1 | Uninf | F | Y | Y | A | 36 | / | / | / | / | LMS; secondary progression after 3 relapses; \>20 lesions; MRI MS by all three raters | | | 867 | 11778 | m.11778G\>A | G11778A\-F406 | G11778A\-F406\-P1 | Uninf | F | Y | Y | A | 48 | / | / | / | / | LMS; 4 relapses; 2 lesions; MRI MS by 2 of 3 raters | | | 868 | 11778 | m.11778G\>A | G11778A\-F407 | G11778A\-F407\-P1 | Uninf | F | Y | Y | A | 33 | / | / | / | / | LMS; 2 relapses; \>20 lesions; MRI MS by all three raters | | | 869 | 11778 | m.11778G\>A | G11778A\-F408 | G11778A\-F408\-P1 | Uninf | F | Y | Y | A | 32 | / | / | / | / | LMS; 2 relapses; \>15 lesions; MRI MS by all three raters | | | 870 | 11778 | m.11778G\>A | G11778A\-F409 | G11778A\-F409\-P1 | Uninf | F | Y | Y | A | 41 | / | / | / | / | LHON; \>20 white matter lesions; MRI MS by all three raters | | | 871 | 11778 | m.11778G\>A | G11778A\-F410 | G11778A\-F410\-P1 | Uninf | F | Y | Y | A | 46 | / | / | / | / | LHON; 3 white matter lesions; MRI MS by 1 of 3 raters | | | 872 | 11778 | m.11778G\>A | G11778A\-F411 | G11778A\-F411\-P1 | Uninf | M | Y | Y | A | 40 | / | / | / | / | LHON; 2 white matter lesions; MRI not MS | | | 873 | 11778 | m.11778G\>A | G11778A\-F412 | G11778A\-F412\-P1 | Uninf | M | Y | Y | A | 50 | / | / | / | / | LHON; 8 white matter lesions; MRI not MS | | | 874 | 11778 | m.11778G\>A | G11778A\-F413 | G11778A\-F413\-P1 | Uninf | M | Y | Y | A | 22 | / | / | / | / | LHON; 4 white matter lesions; MRI not MS | | | 875 | 11778 | m.11778G\>A | G11778A\-F414 | G11778A\-F414\-P1 | Uninf | M | Y | Y | A | 68 | / | / | / | / | LHON; 6 white matter lesions; MRI not MS | | | 876 | 11778 | m.11778G\>A | G11778A\-F415 | G11778A\-F415\-P1 | Uninf | M | Y | Y | A | 25 | / | / | / | / | LHON; 10 white matter lesions; MRI not MS | | | 877 | 11778 | m.11778G\>A | G11778A\-F416 | G11778A\-F416\-P1 | Uninf | F | Y | Y | ND | 50 | / | / | / | / | Late\-onset LHON; visual loss after age 50 | Original ID: Patient 1; Table 2 exposure history: tobacco \+; alcohol \+ | | 878 | 11778 | m.11778G\>A | G11778A\-F417 | G11778A\-F417\-P1 | Uninf | F | Y | Y | ND | 50 | / | / | / | / | Late\-onset LHON; visual loss after age 50 | Original ID: Patient 2; Table 2 exposure history: tobacco \+; alcohol \+ | | 879 | 11778 | m.11778G\>A | G11778A\-F418 | G11778A\-F418\-P1 | Uninf | M | Y | Y | ND | 52 | / | / | / | / | Late\-onset LHON; visual loss after age 50 | Original ID: Patient 3; Table 2 exposure history: tobacco \+; alcohol \+ | | 880 | 11778 | m.11778G\>A | G11778A\-F419 | G11778A\-F419\-P1 | Uninf | M | Y | Y | ND | 53 | / | / | / | / | Late\-onset LHON; visual loss after age 50 | Original ID: Patient 4; Table 2 exposure history: tobacco \+; alcohol \+ | | 881 | 11778 | m.11778G\>A | G11778A\-F420 | G11778A\-F420\-P1 | Uninf | M | Y | Y | ND | 53 | / | / | / | / | Late\-onset LHON; visual loss after age 50 | Original ID: Patient 5; Table 2 exposure history: tobacco \+; alcohol \+ | | 882 | 11778 | m.11778G\>A | G11778A\-F421 | G11778A\-F421\-P1 | Uninf | M | Y | Y | ND | 53 | / | / | / | / | Late\-onset LHON; visual loss after age 50 | Original ID: Patient 6; Table 2 exposure history: tobacco \+; alcohol \+ | | 883 | 11778 | m.11778G\>A | G11778A\-F422 | G11778A\-F422\-P1 | Uninf | M | Y | Y | ND | 53 | / | / | / | / | Late\-onset LHON; visual loss after age 50 | Original ID: Patient 7; Table 2 exposure history: tobacco \-; alcohol \+ | | 884 | 11778 | m.11778G\>A | G11778A\-F423 | G11778A\-F423\-P1 | Uninf | M | Y | Y | ND | 53 | / | / | / | / | Late\-onset LHON; visual loss after age 50 | Original ID: Patient 8; Table 2 exposure history: tobacco \+; alcohol \+ | | 885 | 11778 | m.11778G\>A | G11778A\-F424 | G11778A\-F424\-P1 | Uninf | M | Y | Y | ND | 55 | / | / | / | / | Late\-onset LHON; visual loss after age 50 | Original ID: Patient 9; Table 2 exposure history: tobacco \+; alcohol \+ | | 886 | 11778 | m.11778G\>A | G11778A\-F425 | G11778A\-F425\-P1 | Uninf | M | Y | Y | ND | 56 | / | / | / | / | Late\-onset LHON; visual loss after age 50 | Original ID: Patient 10; Table 2 exposure history: tobacco \+; alcohol \+ | | 887 | 11778 | m.11778G\>A | G11778A\-F426 | G11778A\-F426\-P1 | Uninf | F | Y | Y | ND | 56 | / | / | / | / | Late\-onset LHON; visual loss after age 50 | Original ID: Patient 11; Table 2 exposure history: tobacco \+; alcohol \+ | | 888 | 11778 | m.11778G\>A | G11778A\-F427 | G11778A\-F427\-P1 | Uninf | M | Y | Y | ND | 57 | / | / | / | / | Late\-onset LHON; visual loss after age 50 | Original ID: Patient 12; Table 2 exposure history: tobacco \+; alcohol \+ | | 889 | 11778 | m.11778G\>A | G11778A\-F428 | G11778A\-F428\-P1 | Uninf | M | Y | Y | ND | 61 | / | / | / | / | Late\-onset LHON; visual loss after age 50 | Original ID: Patient 14; Table 2 exposure history: tobacco \-; alcohol \+ | | 890 | 11778 | m.11778G\>A | G11778A\-F429 | G11778A\-F429\-P1 | Uninf | M | Y | Y | ND | 67 | / | / | / | / | Late\-onset LHON; visual loss after age 50 | Original ID: Patient 16; Table 2 exposure history: tobacco \-; alcohol \+ | | 891 | 11778 | m.11778G\>A | G11778A\-F430 | G11778A\-F430\-P1 | Uninf | M | Y | Y | ND | 76 | / | / | / | / | Late\-onset LHON; visual loss after age 50 | Original ID: Patient 19; Table 2 exposure history: tobacco \+; alcohol \+ | | 892 | 11778 | m.11778G\>A | G11778A\-F431 | G11778A\-F431\-P1 | Uninf | M | Y | Y | ND | 75 | / | / | / | / | Late\-onset LHON; visual loss after age 50 | Original ID: Patient 20; Table 2 exposure history: tobacco ?; alcohol ? | | 893 | 11778 | m.11778G\>A | G11778A\-F432 | G11778A\-F432\-P1 | Uninf | M | Y | Y | A | 45 | / | / | / | / | LHON; legally blind; diagnosis age 41 | Original ID: Subject 01; phase I gene therapy participant | | 894 | 11778 | m.11778G\>A | G11778A\-F433 | G11778A\-F433\-P1 | Uninf | M | Y | Y | A | 55 | / | / | / | / | LHON; legally blind; diagnosis age 35 | Original ID: Subject 02; phase I gene therapy participant | | 895 | 11778 | m.11778G\>A | G11778A\-F434 | G11778A\-F434\-P1 | Uninf | M | Y | Y | A | 37 | / | / | / | / | LHON; legally blind; diagnosis age 34 | Original ID: Subject 03; phase I gene therapy participant | | 896 | 11778 | m.11778G\>A | G11778A\-F435 | G11778A\-F435\-P1 | Uninf | M | Y | Y | A | 35 | / | / | / | / | LHON; legally blind; diagnosis age 32 | Original ID: Subject 04; phase I gene therapy participant | | 897 | 11778 | m.11778G\>A | G11778A\-F436 | G11778A\-F436\-P1 | Uninf | F | Y | Y | A | 49 | / | / | / | / | LHON; legally blind; diagnosis age 49 | Original ID: Subject 05; phase I gene therapy participant | | 898 | 11778 | m.11778G\>A | G11778A\-F437 | G11778A\-F437\-III1 | Fam | M | Y | Y | A | ND | / | / | / | / | LHON; vision\-impaired | Original carrier identifier: WZ142\-III1 | | 899 | 11778 | m.11778G\>A | G11778A\-F437 | G11778A\-F437\-II1 | Fam | F | N | Y | A | ND | / | / | / | / | LHON; vision\-impaired | Original carrier identifier: WZ142\-II2 | | 900 | 11778 | m.11778G\>A | G11778A\-F437 | G11778A\-F437\-IV1 | Fam | M | N | N | A | ND | / | / | / | / | Healthy | Original carrier identifier: WZ142\-IV2 | | 901 | 11778 | m.11778G\>A | G11778A\-F437 | G11778A\-F437\-III2 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | Original carrier identifier: WZ142\-III4 | | 902 | 11778 | m.11778G\>A | G11778A\-F438 | G11778A\-F438\-II1 | Fam | M | Y | Y | A | ND | / | / | / | / | LHON; vision\-impaired | Original carrier identifier: WZ562\-II1 | | 903 | 11778 | m.11778G\>A | G11778A\-F438 | G11778A\-F438\-III1 | Fam | M | N | Y | A | ND | / | / | / | / | LHON; vision\-impaired | Original carrier identifier: WZ562\-III1 | | 904 | 11778 | m.11778G\>A | G11778A\-F438 | G11778A\-F438\-IV1 | Fam | M | N | Y | A | ND | / | / | / | / | LHON; vision\-impaired | Original carrier identifier: WZ562\-IV2 | | 905 | 11778 | m.11778G\>A | G11778A\-F438 | G11778A\-F438\-II2 | Fam | F | N | Y | A | ND | / | / | / | / | LHON; vision\-impaired | Original carrier identifier: WZ562\-II4 | | 906 | 11778 | m.11778G\>A | G11778A\-F439 | G11778A\-F439\-II1 | Fam | M | N | Y | A | ND | / | / | / | / | LHON; vision\-impaired | Original carrier identifier: WZ606\-II1 | | 907 | 11778 | m.11778G\>A | G11778A\-F439 | G11778A\-F439\-I1 | Uninf | F | Y | Y | A | ND | / | / | / | / | LHON; vision\-impaired | Original carrier identifier: WZ606\-I2 | | 908 | 11778 | m.11778G\>A | G11778A\-F440 | G11778A\-F440\-I1 | Uninf | F | Y | Y | A | ND | / | / | / | / | LHON; vision\-impaired | Original carrier identifier: WZ815\-I2 | | 909 | 11778 | m.11778G\>A | G11778A\-F440 | G11778A\-F440\-II1 | Fam | M | N | Y | A | ND | / | / | / | / | LHON; vision\-impaired | Original carrier identifier: WZ815\-II3 | | 910 | 11778 | m.11778G\>A | G11778A\-F440 | G11778A\-F440\-II2 | Fam | M | N | Y | A | ND | / | / | / | / | LHON; vision\-impaired | Original carrier identifier: WZ815\-II5 | | 911 | 11778 | m.11778G\>A | G11778A\-F441 | G11778A\-F441\-II1 | Fam | M | N | Y | A | ND | / | / | / | / | LHON; vision\-impaired | Original carrier identifier: WZ1011\-II1 | | 912 | 11778 | m.11778G\>A | G11778A\-F441 | G11778A\-F441\-I1 | Uninf | F | Y | Y | A | ND | / | / | / | / | LHON; vision\-impaired | Original carrier identifier: WZ1011\-I2 | | 913 | 11778 | m.11778G\>A | G11778A\-F441 | G11778A\-F441\-II2 | Fam | F | N | Y | A | ND | / | / | / | / | LHON; vision\-impaired | Original carrier identifier: WZ1011\-II4 | | 914 | 11778 | m.11778G\>A | G11778A\-F441 | G11778A\-F441\-II3 | Fam | F | N | Y | A | ND | / | / | / | / | LHON; vision\-impaired | Original carrier identifier: WZ1011\-II8 | | 915 | 11778 | m.11778G\>A | G11778A\-F441 | G11778A\-F441\-III1 | Fam | F | N | Y | A | ND | / | / | / | / | LHON; vision\-impaired | Original carrier identifier: WZ1011\-III10 | | 916 | 11778 | m.11778G\>A | G11778A\-F441 | G11778A\-F441\-III2 | Fam | M | N | Y | A | ND | / | / | / | / | LHON; vision\-impaired | Original carrier identifier: WZ1011\-III11 | | 917 | 11778 | m.11778G\>A | G11778A\-F442 | G11778A\-F442\-P1 | Uninf | M | Y | Y | ND | 18 | / | / | / | / | LHON | | | 918 | 11778 | m.11778G\>A | G11778A\-F443 | G11778A\-F443\-P1 | Uninf | M | Y | Y | ND | 10 | / | / | / | / | LHON; right eye injected | | | 919 | 11778 | m.11778G\>A | G11778A\-F444 | G11778A\-F444\-P1 | Uninf | M | Y | Y | ND | 9 | / | / | / | / | LHON | | | 920 | 11778 | m.11778G\>A | G11778A\-F445 | G11778A\-F445\-P1 | Uninf | M | Y | Y | ND | 21 | / | / | / | / | LHON | | | 921 | 11778 | m.11778G\>A | G11778A\-F446 | G11778A\-F446\-P1 | Uninf | M | Y | Y | ND | 17 | / | / | / | / | LHON; right eye injected | | | 922 | 11778 | m.11778G\>A | G11778A\-F447 | G11778A\-F447\-P1 | Uninf | F | Y | Y | ND | 9 | / | / | / | / | LHON; right eye injected | | | 923 | 11778 | m.11778G\>A | G11778A\-F448 | G11778A\-F448\-P1 | Uninf | F | Y | Y | ND | 26 | / | / | / | / | LHON | | | 924 | 11778 | m.11778G\>A | G11778A\-F449 | G11778A\-F449\-P1 | Uninf | M | Y | Y | ND | 17 | / | / | / | / | LHON; right eye injected | | | 925 | 11778 | m.11778G\>A | G11778A\-F450 | G11778A\-F450\-P1 | Uninf | M | Y | Y | ND | 46 | / | / | / | / | LHON | | | 926 | 11778 | m.11778G\>A | G11778A\-F451 | G11778A\-F451\-I1 | Uninf | F | N | N | A | ND | 23\.3% | / | / | / | Healthy | | | 927 | 11778 | m.11778G\>A | G11778A\-F451 | G11778A\-F451\-II1 | Fam | F | N | Y | A | 47 years | 13\.5% | / | / | 6\.5%(BM) | MS; disease manifestation 1989; SPMS since 2008; no LHON optic neuropathy | | | 928 | 11778 | m.11778G\>A | G11778A\-F451 | G11778A\-F451\-II2 | Fam | F | Y | Y | A | 41 years | 58\.2% | / | 61\.9% | 61\.9%(BM) | CIS; first manifestation 2011; no LHON optic neuropathy | Original carrier identifier: MS\-cotwin | | 929 | 11778 | m.11778G\>A | G11778A\-F451 | G11778A\-F451\-II3 | Fam | F | N | Y | A | 41 years | 46\.9% | / | 56\.4% | 52\.6%(BM) | CIS after reassessment; MRI lesions, CSF pleocytosis and oligoclonal bands; no LHON optic neuropathy | Original carrier identifier: reassessed\-cotwin | | 930 | 11778 | m.11778G\>A | G11778A\-F452 | G11778A\-F452\-II4 | Fam | M | Y | Y | A | 21 | Homo | / | / | / | LHON; Mild visual impairment; onset 21 years; visual acuity R/L 0\.1/0\.1 | | | 931 | 11778 | m.11778G\>A | G11778A\-F453 | G11778A\-F453\-IV2 | Fam | M | Y | Y | A | 18 | Homo | / | / | / | LHON; Moderate visual impairment; onset 18 years; visual acuity R/L 0\.08/0\.1 | | | 932 | 11778 | m.11778G\>A | G11778A\-F454 | G11778A\-F454\-III2 | Fam | M | Y | Y | A | 20 | Homo | / | / | / | LHON; Severe visual impairment; onset 19 years; visual acuity R/L 0\.05/0\.03 | | | 933 | 11778 | m.11778G\>A | G11778A\-F455 | G11778A\-F455\-III6 | Fam | M | Y | Y | A | 18 | Homo | / | / | / | LHON; Mild visual impairment; onset 15 years; visual acuity R/L 0\.1/0\.1 | | | 934 | 11778 | m.11778G\>A | G11778A\-F456 | G11778A\-F456\-III1 | Fam | M | Y | Y | A | 12 | Homo | / | / | / | LHON; Mild visual impairment; onset 12 years; visual acuity R/L 0\.12/0\.12 | | | 935 | 11778 | m.11778G\>A | G11778A\-F457 | G11778A\-F457\-III1 | Fam | M | Y | Y | A | 25 | Homo | / | / | / | LHON; Moderate visual impairment; onset 25 years; visual acuity R/L 0\.06/0\.1 | | | 936 | 11778 | m.11778G\>A | G11778A\-F458 | G11778A\-F458\-III10 | Fam | M | Y | Y | A | 35 | Homo | / | / | / | LHON; Profound visual impairment; onset 14 years; visual acuity R/L 0\.01/0\.05 | | | 937 | 11778 | m.11778G\>A | G11778A\-F459 | G11778A\-F459\-II8 | Fam | M | Y | Y | A | 10 | Homo | / | / | / | LHON; Severe visual impairment; onset 10 years; visual acuity R/L 0\.1/0\.05 | | | 938 | 11778 | m.11778G\>A | G11778A\-F460 | G11778A\-F460\-III1 | Fam | M | Y | Y | A | 21 | / | / | / | / | LHON; Moderate visual impairment; visual acuity 0\.08/0\.3; onset age 21 | Original carrier identifier: WZ1405\-III\-1; Coexisting variant: m.3319A\>G | | 939 | 11778 | m.11778G\>A | G11778A\-F461 | G11778A\-F461\-III8 | Fam | M | Y | Y | A | 16 | / | / | / | / | LHON; Moderate visual impairment; visual acuity 0\.05/0\.12; onset age 16 | Original carrier identifier: WZ299\-III\-8; Coexisting variant: m.3335T\>C | | 940 | 11778 | m.11778G\>A | G11778A\-F462 | G11778A\-F462\-III1 | Uninf | M | Y | Y | A | 23 | / | / | / | / | LHON; Moderate visual impairment; visual acuity 0\.06/0\.05; onset age 23 | Original carrier identifier: WZ1132\-III\-1; Coexisting variant: m.3356T\>C | | 941 | 11778 | m.11778G\>A | G11778A\-F463 | G11778A\-F463\-III13 | Fam | M | Y | Y | A | 24 | / | / | / | / | LHON; Moderate visual impairment; visual acuity 0\.05/0\.05; onset age 24 | Original carrier identifier: WZ954\-III\-13; Coexisting variant: m.3362T\>C | | 942 | 11778 | m.11778G\>A | G11778A\-F464 | G11778A\-F464\-III1 | Fam | M | Y | Y | A | 8 | / | / | / | / | LHON; Severe visual impairment; visual acuity 0\.02/0\.08; onset age 8 | Original carrier identifier: WZ478\-III\-1; Coexisting variant: m.3364C\>A | | 943 | 11778 | m.11778G\>A | G11778A\-F465 | G11778A\-F465\-IV1 | Fam | M | Y | Y | A | 25 | / | / | / | / | LHON; Severe visual impairment; visual acuity 0\.15/0\.02; onset age 25 | Original carrier identifier: WZ925\-IV\-1; Coexisting variant: m.3364C\>A | | 944 | 11778 | m.11778G\>A | G11778A\-F466 | G11778A\-F466\-III1 | Fam | M | Y | Y | A | 13 | / | / | / | / | LHON; Moderate visual impairment; visual acuity 0\.05/0\.05; onset age 13 | Original carrier identifier: WZ775\-III\-1; Coexisting variant: m.3391G\>A | | 945 | 11778 | m.11778G\>A | G11778A\-F467 | G11778A\-F467\-III7 | Uninf | M | Y | Y | A | 6 | / | / | / | / | LHON; Severe visual impairment; visual acuity 0\.04/0\.04; onset age 6 | Original carrier identifier: WZ1382\-III\-7; Coexisting variant: m.3416C\>A | | 946 | 11778 | m.11778G\>A | G11778A\-F468 | G11778A\-F468\-III4 | Fam | M | Y | Y | A | 18 | / | / | / | / | LHON; Profound visual impairment; visual acuity 0\.02/0\.01; onset age 18 | Original carrier identifier: WZ700\-III\-4; Coexisting variant: m.3472T\>C | | 947 | 11778 | m.11778G\>A | G11778A\-F469 | G11778A\-F469\-III4 | Uninf | F | Y | Y | A | 38 | / | / | / | / | LHON; Profound visual impairment; visual acuity 0\.04/0\.01; onset age 38 | Original carrier identifier: WZ1327\-III\-4; Coexisting variant: m.3548T\>C | | 948 | 11778 | m.11778G\>A | G11778A\-F470 | G11778A\-F470\-III3 | Fam | M | Y | Y | A | 16 | / | / | / | / | LHON; Moderate visual impairment; visual acuity 0\.1/0\.08; onset age 16 | Original carrier identifier: WZ397\-III\-3; Coexisting variant: m.3632C\>T | | 949 | 11778 | m.11778G\>A | G11778A\-F471 | G11778A\-F471\-III4 | Fam | M | Y | Y | A | 9 | / | / | / | / | LHON; Moderate visual impairment; visual acuity 0\.08/0\.06; onset age 9 | Original carrier identifier: WZ263\-III\-4; Coexisting variant: m.3746T\>C | | 950 | 11778 | m.11778G\>A | G11778A\-F472 | G11778A\-F472\-II1 | Uninf | M | Y | Y | A | 34 | / | / | / | / | LHON; Mild visual impairment; visual acuity 0\.6/0\.1; onset age 34 | Original carrier identifier: WZ939\-II\-1; Coexisting variant: m.4181A\>G | | 951 | 11778 | m.11778G\>A | G11778A\-F473 | G11778A\-F473\-II2 | Fam | M | Y | Y | A | 29 | / | / | / | / | LHON; Profound visual impairment; visual acuity 0\.4/CF/10cm; onset age 29 | Original carrier identifier: WZ337\-II\-2; Coexisting variant: m.3394T\>C | | 952 | 11778 | m.11778G\>A | G11778A\-F474 | G11778A\-F474\-III6 | Fam | F | Y | Y | A | 38 | / | / | / | / | LHON; Profound visual impairment; visual acuity 0\.01/0\.01; onset age 38 | Original carrier identifier: WZ373\-III\-6; Coexisting variant: m.3394T\>C | | 953 | 11778 | m.11778G\>A | G11778A\-F475 | G11778A\-F475\-III3 | Uninf | M | Y | Y | A | 10 | / | / | / | / | LHON; Mild visual impairment; visual acuity 0\.16/0\.2; onset age 10 | Original carrier identifier: WZ560\-III\-3; Coexisting variant: m.3394T\>C | | 954 | 11778 | m.11778G\>A | G11778A\-F476 | G11778A\-F476\-III2 | Uninf | M | Y | Y | A | 7 | / | / | / | / | LHON; Mild visual impairment; visual acuity 0\.1/0\.1; onset age 7 | Original carrier identifier: WZ717\-III\-2; Coexisting variant: m.3394T\>C | | 955 | 11778 | m.11778G\>A | G11778A\-F477 | G11778A\-F477\-III1 | Fam | M | Y | Y | A | 17 | / | / | / | / | LHON; Moderate visual impairment; visual acuity 0\.08/0\.06; onset age 17 | Original carrier identifier: WZ856\-III\-1; Coexisting variant: m.3394T\>C | | 956 | 11778 | m.11778G\>A | G11778A\-F478 | G11778A\-F478\-III3 | Uninf | M | Y | Y | A | 16 | / | / | / | / | LHON; Severe visual impairment; visual acuity 0\.03/0\.08; onset age 16 | Original carrier identifier: WZ1075\-III\-3; Coexisting variant: m.3394T\>C | | 957 | 11778 | m.11778G\>A | G11778A\-F479 | G11778A\-F479\-II7 | Fam | F | Y | Y | A | 18 | / | / | / | / | LHON; Severe visual impairment; visual acuity 0\.03/0\.06; onset age 18 | Original carrier identifier: WZ1366\-II\-7; Coexisting variant: m.3394T\>C | | 958 | 11778 | m.11778G\>A | G11778A\-F480 | G11778A\-F480\-II7 | Fam | M | Y | Y | A | 30 | / | / | / | / | LHON; Profound visual impairment; visual acuity 0\.05/0\.01; onset age 30 | Original carrier identifier: WZ102\-II\-7; Coexisting variant: m.3394T\>C | | 959 | 11778 | m.11778G\>A | G11778A\-F481 | G11778A\-F481\-III3 | Fam | M | Y | Y | A | 18 | / | / | / | / | LHON; Severe visual impairment; visual acuity 0\.04/0\.06; onset age 18 | Original carrier identifier: WZ103\-III\-3; Coexisting variant: m.3394T\>C | | 960 | 11778 | m.11778G\>A | G11778A\-F482 | G11778A\-F482\-III6 | Fam | M | Y | Y | A | 24 | / | / | / | / | LHON; Severe visual impairment; visual acuity 0\.06/0\.04; onset age 24 | Original carrier identifier: WZ104\-III\-6; Coexisting variant: m.3394T\>C | | 961 | 11778 | m.11778G\>A | G11778A\-F483 | G11778A\-F483\-III2 | Fam | M | Y | Y | A | 19 | / | / | / | / | LHON; Severe visual impairment; visual acuity 0\.06/0\.03; onset age 19 | Original carrier identifier: WZ105\-III\-2; Coexisting variant: m.3394T\>C | | 962 | 11778 | m.11778G\>A | G11778A\-F484 | G11778A\-F484\-II2 | Uninf | F | Y | Y | A | 36 | / | / | / | / | LHON; Moderate visual impairment; visual acuity 0\.07/0\.08; onset age 36R | Original carrier identifier: WZ907\-II\-2; Coexisting variant: m.3866T\>C | | 963 | 11778 | m.11778G\>A | G11778A\-F485 | G11778A\-F485\-III1 | Uninf | F | Y | Y | A | 30 | / | / | / | / | LHON; Severe visual impairment; visual acuity 0\.04/0\.02; onset age 30R | Original carrier identifier: WZ449\-III\-1; Coexisting variant: m.3866T\>C | | 964 | 11778 | m.11778G\>A | G11778A\-F486 | G11778A\-F486\-III1 | Uninf | M | Y | Y | A | 13 | / | / | / | / | LHON; Severe visual impairment; visual acuity 0\.03/0\.06; onset age 13R | Original carrier identifier: WZ1186\-III\-1; Coexisting variant: m.3866T\>C | | 965 | 11778 | m.11778G\>A | G11778A\-F487 | G11778A\-F487\-P1 | Uninf | M | Y | Y | A | 18 | / | / | / | / | LHON; vision impairment; onset age 14; baseline BCVA logMAR 2\.0(R)/2\.0(L); 36\-month BCVA logMAR 1\.7(R)/1\.7(L) | Original ID: Patient 1; Special history/medication: age is age at gene therapy; bilateral intravitreal rAAV2\-ND4 gene therapy, left eye first and right eye 12 months later | | 966 | 11778 | m.11778G\>A | G11778A\-F488 | G11778A\-F488\-P1 | Uninf | M | Y | Y | A | 10 | / | / | / | / | LHON; vision impairment; onset age 8; baseline BCVA logMAR 1\.7(R)/0\.9(L); 36\-month BCVA logMAR 1\.5(R)/0\.5(L) | Original ID: Patient 2; Special history/medication: age is age at gene therapy; unilateral intravitreal rAAV2\-ND4 gene therapy in right eye | | 967 | 11778 | m.11778G\>A | G11778A\-F489 | G11778A\-F489\-P1 | Uninf | M | Y | Y | A | 9 | / | / | / | / | LHON; vision impairment; onset age 7; baseline BCVA logMAR 1\.2(L)/1\.0(R); 36\-month BCVA logMAR 1\.2(L)/0\.6(R) | Original ID: Patient 3; Special history/medication: age is age at gene therapy; unilateral intravitreal rAAV2\-ND4 gene therapy in left eye | | 968 | 11778 | m.11778G\>A | G11778A\-F490 | G11778A\-F490\-P1 | Uninf | M | Y | Y | A | 21 | / | / | / | / | LHON; vision impairment; onset age 13; baseline BCVA logMAR 2\.0(L)/1\.1(R); 36\-month BCVA logMAR 1\.0(L)/0\.8(R) | Original ID: Patient 4; Special history/medication: age is age at gene therapy; unilateral intravitreal rAAV2\-ND4 gene therapy in left eye | | 969 | 11778 | m.11778G\>A | G11778A\-F491 | G11778A\-F491\-P1 | Uninf | M | Y | Y | A | 17 | / | / | / | / | LHON; vision impairment; onset age 16; baseline BCVA logMAR 2\.3(R)/2\.3(L); 36\-month BCVA logMAR 2\.3(R)/2\.3(L) | Original ID: Patient 5; Special history/medication: age is age at gene therapy; unilateral intravitreal rAAV2\-ND4 gene therapy in right eye | | 970 | 11778 | m.11778G\>A | G11778A\-F492 | G11778A\-F492\-P1 | Uninf | F | Y | Y | A | 9 | / | / | / | / | LHON; vision impairment; onset age 8; baseline BCVA logMAR 1\.1(R)/1\.0(L); 36\-month BCVA logMAR 0\.1(R)/0\.4(L) | Original ID: Patient 6; Special history/medication: age is age at gene therapy; unilateral intravitreal rAAV2\-ND4 gene therapy in right eye | | 971 | 11778 | m.11778G\>A | G11778A\-F493 | G11778A\-F493\-P1 | Uninf | F | Y | Y | A | 26 | / | / | / | / | LHON; vision impairment; onset age 9; baseline BCVA logMAR 1\.2(L)/0\.9(R); 36\-month BCVA logMAR 0\.9(L)/0\.7(R) | Original ID: Patient 7; Special history/medication: age is age at gene therapy; unilateral intravitreal rAAV2\-ND4 gene therapy in left eye | | 972 | 11778 | m.11778G\>A | G11778A\-F494 | G11778A\-F494\-P1 | Uninf | M | Y | Y | A | 17 | / | / | / | / | LHON; vision impairment; onset age 13; baseline BCVA logMAR 1\.4(L)/1\.7(R); 36\-month BCVA logMAR 1\.1(L)/1\.2(R) | Original ID: Patient 8; Special history/medication: age is age at gene therapy; unilateral intravitreal rAAV2\-ND4 gene therapy in left eye | | 973 | 11778 | m.11778G\>A | G11778A\-F495 | G11778A\-F495\-P1 | Uninf | M | Y | Y | A | 46 | / | / | / | / | LHON; vision impairment; onset age 43; baseline BCVA logMAR 2\.0(R)/2\.0(L); 36\-month BCVA logMAR 2\.0(R)/2\.0(L) | Original ID: Patient 9; Special history/medication: age is age at gene therapy; unilateral intravitreal rAAV2\-ND4 gene therapy in right eye | | 974 | 11778 | m.11778G\>A | G11778A\-F496 | G11778A\-F496\-IV3 | Fam | F | Y | Y | A | 30\-40 | / | / | / | Homo(Lymphoblastoid cell line) | LHON; vision impaired | Original carrier identifier: WZ113\-IV\-3 | | 975 | 11778 | m.11778G\>A | G11778A\-F497 | G11778A\-F497\-III6 | Fam | M | Y | Y | A | 30\-40 | / | / | / | Homo(Lymphoblastoid cell line) | LHON; vision impaired | Original carrier identifier: WZ440\-III\-6 | | 976 | 11778 | m.11778G\>A | G11778A\-F498 | G11778A\-F498\-III1 | Fam | F | Y | Y | A | 76 | Homo | / | Homo | / | LHON, onset age 75, severe bilateral visual loss | Coexisting variant: T14484C | | 977 | 11778 | m.11778G\>A | G11778A\-F498 | G11778A\-F498\-IV1 | Fam | F | N | Y | A | 46 | Homo | / | Homo | / | LHON, onset age 6, moderate visual loss and partial optic atrophy | Coexisting variant: T14484C | | 978 | 11778 | m.11778G\>A | G11778A\-F498 | G11778A\-F498\-IV2 | Fam | F | N | Y | A | 36 | Homo | / | Homo | / | LHON, onset age 9, mild visual loss; migraine without aura noted | Coexisting variant: T14484C | | 979 | 11778 | m.11778G\>A | G11778A\-F499 | G11778A\-F499\-P1 | Fam | M | Y | Y | A | 18 | / | / | / | / | LHON | | | 980 | 11778 | m.11778G\>A | G11778A\-F500 | G11778A\-F500\-II1 | Fam | M | Y | Y | A | 10 | / | / | / | / | LHON | | | 981 | 11778 | m.11778G\>A | G11778A\-F500 | G11778A\-F500\-II2 | Fam | F | N | Y | A | 26 | / | / | / | / | LHON | | | 982 | 11778 | m.11778G\>A | G11778A\-F501 | G11778A\-F501\-II1 | Fam | M | Y | Y | A | 9 | / | / | / | / | LHON | | | 983 | 11778 | m.11778G\>A | G11778A\-F501 | G11778A\-F501\-II2 | Fam | M | N | Y | A | 21 | / | / | / | / | LHON | | | 984 | 11778 | m.11778G\>A | G11778A\-F502 | G11778A\-F502\-P1 | Fam | F | Y | Y | A | 27 | / | / | / | / | LHON | | | 985 | 11778 | m.11778G\>A | G11778A\-F503 | G11778A\-F503\-P1 | Fam | M | Y | Y | A | 17 | / | / | / | / | LHON | | | 986 | 11778 | m.11778G\>A | G11778A\-F504 | G11778A\-F504\-P1 | Fam | F | Y | Y | A | 9 | / | / | / | / | LHON | | | 987 | 11778 | m.11778G\>A | G11778A\-F505 | G11778A\-F505\-P1 | Fam | M | Y | Y | A | 28 | / | / | / | / | LHON | | | 988 | 11778 | m.11778G\>A | G11778A\-F506 | G11778A\-F506\-P1 | Fam | M | Y | Y | A | 16 | / | / | / | / | LHON | | | 989 | 11778 | m.11778G\>A | G11778A\-F507 | G11778A\-F507\-P1 | Fam | M | Y | Y | A | 17 | / | / | / | / | LHON | | | 990 | 11778 | m.11778G\>A | G11778A\-F508 | G11778A\-F508\-P1 | Fam | M | Y | Y | A | 46 | / | / | / | / | LHON | | | 991 | 11778 | m.11778G\>A | G11778A\-F509 | G11778A\-F509\-P1 | Fam | M | Y | Y | A | 10 | / | / | / | / | LHON | | | 992 | 11778 | m.11778G\>A | G11778A\-F510 | G11778A\-F510\-P1 | Fam | F | Y | Y | A | 8 | / | / | / | / | LHON | | | 993 | 11778 | m.11778G\>A | G11778A\-F511 | G11778A\-F511\-P1 | Fam | M | Y | Y | A | 9 | / | / | / | / | LHON | | | 994 | 11778 | m.11778G\>A | G11778A\-F512 | G11778A\-F512\-P1 | Fam | M | Y | Y | A | 27 | / | / | / | / | LHON | | | 995 | 11778 | m.11778G\>A | G11778A\-F513 | G11778A\-F513\-P1 | Uninf | M | Y | Y | A | 21 | / | / | / | Homo(F) | LHON; bilateral sequential optic neuropathy; onset 21 y; no visual recovery; final VA RE HM, LE CF | Original carrier identifier: LHON\-A; Special history: non\-smoker before disease onset | | 996 | 11778 | m.11778G\>A | G11778A\-F514 | G11778A\-F514\-P1 | Uninf | M | Y | Y | A | 18 | / | / | / | Homo(F) | LHON; bilateral sequential optic neuropathy; onset 18 y; spontaneous visual recovery in right eye; final VA RE 20/30, LE CF | Original carrier identifier: LHON\-B; Special history: non\-smoker before disease onset | | 997 | 11778 | m.11778G\>A | G11778A\-F515 | G11778A\-F515\-P1 | Uninf | M | Y | Y | A | 45 | / | / | / | Homo(F) | LHON; bilateral sequential optic neuropathy; onset 45 y; no visual recovery; final VA RE CF, LE CF | Original carrier identifier: LHON\-C; Special history: smoker before disease onset | | 998 | 11778 | m.11778G\>A | G11778A\-F516 | G11778A\-F516\-P1 | Uninf | M | Y | Y | A | 18 | / | / | / | Homo(F) | LHON; bilateral sequential optic neuropathy; onset 18 y; no visual recovery; final VA RE HM, LE HM | Original carrier identifier: LHON\-D; Special history: non\-smoker before disease onset | | 999 | 11778 | m.11778G\>A | G11778A\-F517 | G11778A\-F517\-P1 | Fam | F | Y | Y | ND | 6 | / | / | / | / | Childhood\-onset LHON; gradual visual deterioration over 2 years; final BCVA 0\.17/0\.02 | Original ID: Patient 1 | | 1000 | 11778 | m.11778G\>A | G11778A\-F518 | G11778A\-F518\-P1 | Fam | F | Y | Y | ND | 8 | / | / | / | / | Childhood\-onset LHON; acute presentation; no recovery; final BCVA LP/LP | Original ID: Patient 2 | | 1001 | 11778 | m.11778G\>A | G11778A\-F519 | G11778A\-F519\-P1 | Fam | F | Y | Y | ND | 9 | / | / | / | / | Childhood\-onset LHON; acute presentation; no recovery; final BCVA 0\.03/0\.03 | Original ID: Patient 3 | | 1002 | 11778 | m.11778G\>A | G11778A\-F520 | G11778A\-F520\-P1 | Fam | M | Y | Y | ND | 11 | / | / | / | / | Childhood\-onset LHON; acute presentation; worst BCVA HM both eyes; recovery within 12 months; final BCVA 0\.76/0\.50 | Original ID: Patient 4 | | 1003 | 11778 | m.11778G\>A | G11778A\-F521 | G11778A\-F521\-P1 | Uninf | M | Y | Y | ND | 8 | / | / | / | / | Childhood\-onset LHON; acute presentation; no recovery; final BCVA CF/CF | Original ID: Patient 5 | | 1004 | 11778 | m.11778G\>A | G11778A\-F522 | G11778A\-F522\-P1 | Uninf | M | Y | Y | ND | 3 | / | / | / | / | Childhood\-onset LHON; insidious/subclinical; subnormal vision since birth; final BCVA 0\.17/0\.50 | Original ID: Patient 6 | | 1005 | 11778 | m.11778G\>A | G11778A\-F523 | G11778A\-F523\-P1 | Uninf | M | Y | Y | ND | 9 | / | / | / | / | Childhood\-onset LHON; acute asymmetrical presentation; worst BCVA 0\.08 RE and 0\.4 LE; final BCVA 0\.10/0\.50 | Original ID: Patient 7 | | 1006 | 11778 | m.11778G\>A | G11778A\-F524 | G11778A\-F524\-P1 | Fam | M | Y | Y | ND | 11 | / | / | / | / | Childhood\-onset LHON; acute presentation; no recovery; final BCVA 0\.07/0\.10 | Original ID: Patient 8 | | 1007 | 11778 | m.11778G\>A | G11778A\-F525 | G11778A\-F525\-P1 | Uninf | M | Y | Y | ND | 2 | / | / | / | / | Childhood\-onset LHON; insidious/subclinical; subnormal vision detected at age 2; diagnosed at age 8; final BCVA 0\.25/0\.08 | Original ID: Patient 9 | | 1008 | 11778 | m.11778G\>A | G11778A\-F526 | G11778A\-F526\-P1 | Fam | M | Y | Y | ND | 8 | / | / | / | / | Childhood\-onset LHON; acute presentation; no recovery; final BCVA CF/CF | Original ID: Patient 10 | | 1009 | 11778 | m.11778G\>A | G11778A\-F527 | G11778A\-F527\-P1 | Uninf | M | Y | Y | ND | 10 | / | / | / | / | Childhood\-onset LHON; acute presentation; worst BCVA CF both eyes; recovery within 24 months with asymmetrical recovery; final BCVA 0\.08/0\.66 | Original ID: Patient 11 | | 1010 | 11778 | m.11778G\>A | G11778A\-F528 | G11778A\-F528\-P1 | Fam | M | Y | Y | ND | 2 | / | / | / | / | Childhood\-onset LHON; insidious/subclinical; subnormal vision detected at age 2; diagnosed at age 6; slow visual recovery until age 10; final BCVA 0\.35/0\.36 | Original ID: Patient 12 | | 1011 | 11778 | m.11778G\>A | G11778A\-F529 | G11778A\-F529\-P1 | Fam | M | Y | Y | ND | 2 | / | / | / | / | Childhood\-onset LHON; infantile/optic atrophy at age 2; diagnosed at age 17; final BCVA 0\.40/0\.10 | Original ID: Patient 13 | | 1012 | 11778 | m.11778G\>A | G11778A\-F530 | G11778A\-F530\-P1 | Uninf | M | Y | Y | A | 45 | Positive by PCR\-based ARMS | / | / | / | LHON; visual loss | Original ID: Injection No | | 1013 | 11778 | m.11778G\>A | G11778A\-F531 | G11778A\-F531\-P1 | Uninf | M | Y | Y | A | 56 | Positive by PCR\-based ARMS | / | / | / | LHON; visual loss | Original ID: Injection No | | 1014 | 11778 | m.11778G\>A | G11778A\-F532 | G11778A\-F532\-P1 | Uninf | M | Y | Y | A | 37 | Positive by PCR\-based ARMS | / | / | / | LHON; visual loss | Original ID: Injection No | | 1015 | 11778 | m.11778G\>A | G11778A\-F533 | G11778A\-F533\-P1 | Uninf | M | Y | Y | A | 33 | Positive by PCR\-based ARMS | / | / | / | LHON; visual loss | Original ID: Injection No | | 1016 | 11778 | m.11778G\>A | G11778A\-F534 | G11778A\-F534\-P1 | Uninf | M | Y | Y | A | 29 | Positive by PCR\-based ARMS | / | / | / | LHON; visual loss | Original ID: Injection No | | 1017 | 11778 | m.11778G\>A | G11778A\-F535 | G11778A\-F535\-P1 | Uninf | M | Y | Y | A | 24 | Positive by PCR\-based ARMS | / | / | / | LHON; visual loss | Original ID: Injection No | | 1018 | 11778 | m.11778G\>A | G11778A\-F536 | G11778A\-F536\-P1 | Uninf | F | Y | Y | A | 49 | Positive by PCR\-based ARMS | / | / | / | LHON; visual loss | Original ID: Injection No | | 1019 | 11778 | m.11778G\>A | G11778A\-F537 | G11778A\-F537\-P1 | Uninf | M | Y | Y | A | 22 | Positive by PCR\-based ARMS | / | / | / | LHON; visual loss | Original ID: Injection No | | 1020 | 11778 | m.11778G\>A | G11778A\-F538 | G11778A\-F538\-P1 | Uninf | M | Y | Y | A | 23 | Positive by PCR\-based ARMS | / | / | / | LHON; visual loss | Original ID: Injection No | | 1021 | 11778 | m.11778G\>A | G11778A\-F539 | G11778A\-F539\-P1 | Uninf | F | Y | Y | A | 26 | Positive by PCR\-based ARMS | / | / | / | LHON; visual loss | Original ID: Injection No | | 1022 | 11778 | m.11778G\>A | G11778A\-F540 | G11778A\-F540\-P1 | Uninf | F | Y | Y | A | 27 | Positive by PCR\-based ARMS | / | / | / | LHON; visual loss | Original ID: Injection No | | 1023 | 11778 | m.11778G\>A | G11778A\-F541 | G11778A\-F541\-P1 | Uninf | F | Y | Y | A | 31 | Positive by PCR\-based ARMS | / | / | / | LHON; visual loss | Original ID: Injection No | | 1024 | 11778 | m.11778G\>A | G11778A\-F542 | G11778A\-F542\-P1 | Uninf | M | Y | Y | A | 19 | Positive by PCR\-based ARMS | / | / | / | LHON; visual loss | Original ID: Injection No | | 1025 | 11778 | m.11778G\>A | G11778A\-F543 | G11778A\-F543\-P1 | Uninf | M | Y | Y | A | 52 | Positive by PCR\-based ARMS | / | / | / | LHON; visual loss | Original ID: Injection No | | 1026 | 11778 | m.11778G\>A | G11778A\-F544 | G11778A\-F544\-II1 | Fam | F | N | N | A | 51 | Homo | / | / | / | Healthy | | | 1027 | 11778 | m.11778G\>A | G11778A\-F544 | G11778A\-F544\-III1 | Fam | M | N | Y | A | 30 | Homo | / | / | / | LHON; onset 13 y; visual acuity 0\.2/0\.1; mild impairment | | | 1028 | 11778 | m.11778G\>A | G11778A\-F544 | G11778A\-F544\-III2 | Fam | F | N | Y | A | 27 | Homo | / | / | / | LHON; onset 11 y; visual acuity 0\.3/0\.2; mild impairment | | | 1029 | 11778 | m.11778G\>A | G11778A\-F544 | G11778A\-F544\-III3 | Fam | F | N | Y | A | 28 | Homo | / | / | / | LHON; onset 10 y; visual acuity 0\.6/0\.3; mild impairment | | | 1030 | 11778 | m.11778G\>A | G11778A\-F544 | G11778A\-F544\-III4 | Fam | M | Y | Y | A | 27 | Homo | / | / | / | LHON; onset 13 y; visual acuity 0\.1/0\.02; moderate/severe impairment | | | 1031 | 11778 | m.11778G\>A | G11778A\-F545 | G11778A\-F545\-I1 | Uninf | F | N | Y | A | 88 | Homo | / | / | / | LHON; onset 20 y; visual acuity NA; impairment NA | | | 1032 | 11778 | m.11778G\>A | G11778A\-F545 | G11778A\-F545\-II1 | Fam | F | N | Y | A | 66 | Homo | / | / | / | LHON; onset 64 y; visual acuity 0\.3/0\.4; mild impairment | | | 1033 | 11778 | m.11778G\>A | G11778A\-F545 | G11778A\-F545\-II2 | Fam | M | N | Y | A | 57 | Homo | / | / | / | LHON; onset 47 y; visual acuity 0\.1/0\.1; mild impairment | | | 1034 | 11778 | m.11778G\>A | G11778A\-F545 | G11778A\-F545\-III1 | Fam | M | Y | Y | A | 43 | Homo | / | / | / | LHON; onset 16 y; visual acuity LP/0\.1; profound/mild impairment | | | 1035 | 11778 | m.11778G\>A | G11778A\-F545 | G11778A\-F545\-III2 | Fam | F | N | N | A | 40 | Homo | / | / | / | Healthy | | | 1036 | 11778 | m.11778G\>A | G11778A\-F545 | G11778A\-F545\-IV1 | Fam | F | N | N | A | 18 | Homo | / | / | / | Healthy | | | 1037 | 11778 | m.11778G\>A | G11778A\-F546 | G11778A\-F546\-II1 | Fam | M | Y | Y | A | 11 | / | / | / | Homo(ND) | LHON | Original carrier identifier: Patient 1 | | 1038 | 11778 | m.11778G\>A | G11778A\-F546 | G11778A\-F546\-I1 | Uninf | F | N | ND | A | ND | / | / | / | Heteroplasmic(ND) | ND | | | 1039 | 11778 | m.11778G\>A | G11778A\-F547 | G11778A\-F547\-P1 | Fam | M | Y | Y | A | 16 | / | / | / | Homo(ND) | LHON | Original ID: Patient 2 | | 1040 | 11778 | m.11778G\>A | G11778A\-F548 | G11778A\-F548\-P1 | Fam | M | Y | Y | A | 14 | / | / | / | Homo(ND) | LHON | Original ID: Patient 3 | | 1041 | 11778 | m.11778G\>A | G11778A\-F549 | G11778A\-F549\-P1 | Fam | M | Y | Y | A | 25 | / | / | / | Homo(ND) | LHON | Original ID: Patient 4 | | 1042 | 11778 | m.11778G\>A | G11778A\-F550 | G11778A\-F550\-P1 | Fam | M | Y | Y | A | 16 | / | / | / | Homo(ND) | LHON | Original ID: Patient 5 | | 1043 | 11778 | m.11778G\>A | G11778A\-F551 | G11778A\-F551\-P1 | Fam | M | Y | Y | A | 15 | / | / | / | Homo(ND) | LHON | Original ID: Patient 6 | | 1044 | 11778 | m.11778G\>A | G11778A\-F552 | G11778A\-F552\-P1 | Fam | M | Y | Y | A | 17 | / | / | / | Homo(ND) | LHON | Original ID: Patient 7 | | 1045 | 11778 | m.11778G\>A | G11778A\-F553 | G11778A\-F553\-P1 | Fam | M | Y | Y | A | 27 | / | / | / | Homo(ND) | LHON | Original ID: Patient 8 | | 1046 | 11778 | m.11778G\>A | G11778A\-F554 | G11778A\-F554\-P1 | Fam | M | Y | Y | A | 15 | / | / | / | Homo(ND) | LHON | Original ID: Patient 9 | | 1047 | 11778 | m.11778G\>A | G11778A\-F555 | G11778A\-F555\-P1 | Fam | M | Y | Y | A | 42 | / | / | / | Homo(ND) | LHON | Original ID: Patient 10 | | 1048 | 11778 | m.11778G\>A | G11778A\-F556 | G11778A\-F556\-P1 | Fam | M | Y | Y | A | 18 | / | / | / | Homo(ND) | LHON | Original ID: Patient 11 | | 1049 | 11778 | m.11778G\>A | G11778A\-F557 | G11778A\-F557\-P1 | Uninf | F | Y | Y | A | 61 | Homo | / | / | / | LHON | | | 1050 | 11778 | m.11778G\>A | G11778A\-F558 | G11778A\-F558\-P1 | Uninf | F | Y | Y | A | 42 | 98\.17% | / | / | / | LHON; unilateral acute visual loss with second\-eye involvement during follow\-up | | | 1051 | 11778 | m.11778G\>A | G11778A\-F559 | G11778A\-F559\-P1 | Uninf | M | Y | Y | A | 30 | 100% | / | / | / | LHON; unilateral acute visual loss with second\-eye involvement during follow\-up | | | 1052 | 11778 | m.11778G\>A | G11778A\-F560 | G11778A\-F560\-P1 | Uninf | M | Y | Y | A | 26 | 98% | / | / | / | LHON; unilateral acute visual loss with second\-eye involvement during follow\-up | | | 1053 | 11778 | m.11778G\>A | G11778A\-F561 | G11778A\-F561\-P1 | Uninf | M | Y | Y | A | 19 | 97% | / | / | / | LHON; unilateral acute visual loss with second\-eye involvement during follow\-up | | | 1054 | 11778 | m.11778G\>A | G11778A\-F562 | G11778A\-F562\-II1 | Uninf | M | Y | Y | ND | 30 | / | / | / | 99\.71%(LCL) | LHON | Original carrier identifier: GM10742 | | 1055 | 11778 | m.11778G\>A | G11778A\-F562 | G11778A\-F562\-II2 | Uninf | M | Y | Y | ND | 53 | / | / | / | 99\.8%(LCL) | LHON | Original carrier identifier: GM10744 | | 1056 | 11778 | m.11778G\>A | G11778A\-F563 | G11778A\-F563\-II1 | Uninf | M | N | Y | A | 10 | / | / | / | / | LHON | Treatment history: therapy age 10 | | 1057 | 11778 | m.11778G\>A | G11778A\-F563 | G11778A\-F563\-II2 | Uninf | M | N | Y | A | 9 | / | / | / | / | LHON | Treatment history: therapy age 9 | | 1058 | 11778 | m.11778G\>A | G11778A\-F563 | G11778A\-F563\-II3 | Uninf | M | N | Y | A | 21 | / | / | / | / | LHON | Treatment history: therapy age 21 | | 1059 | 11778 | m.11778G\>A | G11778A\-F563 | G11778A\-F563\-II4 | Uninf | M | N | Y | A | 17 | / | / | / | / | LHON | Treatment history: therapy age 17 | | 1060 | 11778 | m.11778G\>A | G11778A\-F563 | G11778A\-F563\-II5 | Uninf | F | N | Y | A | 9 | / | / | / | / | LHON | Treatment history: therapy age 9 | | 1061 | 11778 | m.11778G\>A | G11778A\-F563 | G11778A\-F563\-II6 | Uninf | F | N | Y | A | 26 | / | / | / | / | LHON | Treatment history: therapy age 26 | | 1062 | 11778 | m.11778G\>A | G11778A\-F563 | G11778A\-F563\-II7 | Uninf | M | N | Y | A | 17 | / | / | / | / | LHON | Treatment history: therapy age 17 | | 1063 | 11778 | m.11778G\>A | G11778A\-F563 | G11778A\-F563\-II8 | Uninf | M | N | Y | A | 46 | / | / | / | / | LHON | Treatment history: therapy age 46 | | 1064 | 11778 | m.11778G\>A | G11778A\-F564 | G11778A\-F564\-III1 | Uninf | F | Y | Y | A | 34 | / | / | / | 94%(F) | LHON\-MS; bilateral visual loss; cecocentral scotoma; cerebral white matter lesions; leg heaviness | Special history: onset age 27 | | 1065 | 11778 | m.11778G\>A | G11778A\-F565 | G11778A\-F565\-P1 | Fam | F | Y | Y | A | 51 | / | / | / | / | LHON; bilateral sequential visual loss; cecocentral scotomas; optic nerve hyperemia/telangiectatic vessels | | | 1066 | 11778 | m.11778G\>A | G11778A\-F566 | G11778A\-F566\-I1 | Uninf | F | N | N | A | 38 | / | / | / | / | Healthy | | | 1067 | 11778 | m.11778G\>A | G11778A\-F566 | G11778A\-F566\-II1 | Fam | M | Y | Y | A | 16 | / | / | / | / | JOAG and LHON | Original ID: Patient 1 | | 1068 | 11778 | m.11778G\>A | G11778A\-F566 | G11778A\-F566\-II2 | Fam | M | N | Y | A | 15 | / | / | / | / | JOAG and LHON | Original ID: Patient 2 | | 1069 | 11778 | m.11778G\>A | G11778A\-F566 | G11778A\-F566\-II3 | Fam | M | N | N | A | 14 | / | / | / | / | Healthy | | | 1070 | 11778 | m.11778G\>A | G11778A\-F566 | G11778A\-F566\-II4 | Fam | F | N | N | A | 9 | / | / | / | / | Healthy | | | 1071 | 11778 | m.11778G\>A | G11778A\-F567 | G11778A\-F567\-P1 | Uninf | M | Y | Y | A | 35 | / | / | / | / | JOAG and LHON | Original ID: Patient 3 | | 1072 | 11778 | m.11778G\>A | G11778A\-F568 | G11778A\-F568\-IV2 | Fam | M | Y | Y | A | ND | / | / | / | homoplasmic(cybrid/cell line) | LHON | Original ID: Subject carrying | | 1073 | 11778 | m.11778G\>A | G11778A\-F569 | G11778A\-F569\-III7 | Fam | M | Y | Y | A | 29 | / | / | / | homoplasmic(cybrid/cell line) | LHON | Coexisting variant: m.3394T\>C | | 1074 | 11778 | m.11778G\>A | G11778A\-F570 | G11778A\-F570\-P1 | Fam | ND | Y | Y | A | 38 | / | / | / | / | LHON | | | 1075 | 11778 | m.11778G\>A | G11778A\-F571 | G11778A\-F571\-P1 | Fam | M | Y | Y | A | 10 | / | / | / | / | LHON | | | 1076 | 11778 | m.11778G\>A | G11778A\-F572 | G11778A\-F572\-P1 | Fam | M | Y | Y | A | 7 | / | / | / | / | LHON | | | 1077 | 11778 | m.11778G\>A | G11778A\-F573 | G11778A\-F573\-P1 | Fam | M | Y | Y | A | 17 | / | / | / | / | LHON | | | 1078 | 11778 | m.11778G\>A | G11778A\-F574 | G11778A\-F574\-P1 | Fam | M | Y | Y | A | 16 | / | / | / | / | LHON | | | 1079 | 11778 | m.11778G\>A | G11778A\-F575 | G11778A\-F575\-P1 | Fam | M | Y | Y | A | 18 | / | / | / | / | LHON | | | 1080 | 11778 | m.11778G\>A | G11778A\-F576 | G11778A\-F576\-P1 | Fam | ND | Y | Y | A | 30 | / | / | / | / | LHON | | | 1081 | 11778 | m.11778G\>A | G11778A\-F577 | G11778A\-F577\-P1 | Fam | M | Y | Y | A | 32 | / | / | / | / | LHON | | | 1082 | 11778 | m.11778G\>A | G11778A\-F578 | G11778A\-F578\-P1 | Fam | ND | Y | Y | A | 36 | / | / | / | / | LHON | | | 1083 | 11778 | m.11778G\>A | G11778A\-F579 | G11778A\-F579\-P1 | Fam | ND | Y | Y | A | 24 | / | / | / | / | LHON | | | 1084 | 11778 | m.11778G\>A | G11778A\-F580 | G11778A\-F580\-P1 | Fam | ND | Y | Y | A | 33 | / | / | / | / | LHON | | | 1085 | 11778 | m.11778G\>A | G11778A\-F581 | G11778A\-F581\-P1 | Fam | M | Y | Y | A | 30 | / | / | / | / | LHON | | | 1086 | 11778 | m.11778G\>A | G11778A\-F582 | G11778A\-F582\-P1 | Fam | M | Y | Y | A | 18 | / | / | / | / | LHON | | | 1087 | 11778 | m.11778G\>A | G11778A\-F583 | G11778A\-F583\-P1 | Fam | ND | Y | Y | A | 24 | / | / | / | / | LHON | | | 1088 | 11778 | m.11778G\>A | G11778A\-F584 | G11778A\-F584\-P1 | Fam | ND | Y | Y | A | 19 | / | / | / | / | LHON | | | 1089 | 11778 | m.11778G\>A | G11778A\-F585 | G11778A\-F585\-I1 | Uninf | F | Y | Y | A | 51 | / | / | / | / | LHON; persistent visual deterioration; optic disc swelling/telangiectasia; scotoma | | | 1090 | 11778 | m.11778G\>A | G11778A\-F585 | G11778A\-F585\-II1 | Fam | F | N | N | ND | ND | / | / | / | / | Healthy | | | 1091 | 11778 | m.11778G\>A | G11778A\-F585 | G11778A\-F585\-III1 | Fam | ND | N | N | ND | ND | / | / | / | / | Healthy | | | 1092 | 11778 | m.11778G\>A | G11778A\-F585 | G11778A\-F585\-III2 | Fam | ND | N | N | ND | ND | / | / | / | / | Healthy | | | 1093 | 11778 | m.11778G\>A | G11778A\-F586 | G11778A\-F586\-I1 | Uninf | F | Y | Y | ND | 39 | / | / | / | / | LHON; visual field defects; central scotoma | | | 1094 | 11778 | m.11778G\>A | G11778A\-F586 | G11778A\-F586\-II1 | Fam | M | N | N | ND | ND | / | / | / | / | Healthy | | | 1095 | 11778 | m.11778G\>A | G11778A\-F586 | G11778A\-F586\-II2 | Fam | M | N | N | ND | ND | / | / | / | / | Healthy | | | 1096 | 11778 | m.11778G\>A | G11778A\-F587 | G11778A\-F587\-II1 | Fam | F | Y | Y | A | 61 | / | / | / | Positive(ND) | Harding disease / LHON\-MS overlap; left eye visual loss in 20s, second eye at 39, optic atrophy and MS\-like neurological episode | | | 1097 | 11778 | m.11778G\>A | G11778A\-F587 | G11778A\-F587\-II2 | Fam | M | N | Y | A | 37 | / | / | / | Homo(ND) | Classical LHON; severe bilateral sequential visual loss; diagnosed at age 37 | | | 1098 | 11778 | m.11778G\>A | G11778A\-F587 | G11778A\-F587\-III1 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | | | 1099 | 11778 | m.11778G\>A | G11778A\-F587 | G11778A\-F587\-III2 | Fam | M | N | N | A | ND | / | / | / | / | Healthy | | | 1100 | 11778 | m.11778G\>A | G11778A\-F588 | G11778A\-F588\-II1 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | Original carrier identifier: II\-1 | | 1101 | 11778 | m.11778G\>A | G11778A\-F588 | G11778A\-F588\-III1 | Fam | M | N | Y | A | 27 | / | / | / | / | LHON; deterioration of vision at age 27, left then right; optic disc pallor, vessel narrowing, optic nerve degeneration | Original carrier identifier: III\-1 | | 1102 | 11778 | m.11778G\>A | G11778A\-F588 | G11778A\-F588\-III2 | Fam | M | N | Y | A | 20 | / | / | / | / | LHON; right\-eye vision loss at age 20, second eye six months later | Original carrier identifier: III\-2 | | 1103 | 11778 | m.11778G\>A | G11778A\-F588 | G11778A\-F588\-III3 | Fam | M | N | Y | A | ND | / | / | / | / | LHON; sudden sequential vision loss before age 26; exact age unknown | Original carrier identifier: III\-3 | | 1104 | 11778 | m.11778G\>A | G11778A\-F588 | G11778A\-F588\-III4 | Fam | M | N | Y | A | 25 | / | / | / | / | LHON; sight loss onset at age 25 | Original carrier identifier: III\-4 | | 1105 | 11778 | m.11778G\>A | G11778A\-F588 | G11778A\-F588\-III5 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | Original carrier identifier: III\-5 | | 1106 | 11778 | m.11778G\>A | G11778A\-F588 | G11778A\-F588\-III6 | Fam | M | N | Y | A | 20 | / | / | / | / | LHON; sudden vision loss at age 20; optic disc pallor, vessel narrowing, optic nerve degeneration | Original carrier identifier: III\-6 | | 1107 | 11778 | m.11778G\>A | G11778A\-F588 | G11778A\-F588\-III7 | Fam | M | N | Y | A | 36 | / | / | / | / | LHON; sight loss at age 36, right eye then left eye | Original carrier identifier: III\-7 | | 1108 | 11778 | m.11778G\>A | G11778A\-F589 | G11778A\-F589\-P1 | De novo | M | Y | Y | A | 36 | 76% | / | / | 81%(F) | LHON\-plus; optic neuropathy; ptosis; ataxia; dystonia; dysarthria; recurrent transverse myelitis | Coexisting variant: homoplasmic T14484C | | 1109 | 11778 | m.11778G\>A | G11778A\-F590 | G11778A\-F590\-P1 | Fam | ND | Y | Y | A | ND | / | / | / | / | LHON | Original paper family label: L1 | | 1110 | 11778 | m.11778G\>A | G11778A\-F591 | G11778A\-F591\-P1 | Fam | ND | Y | Y | A | ND | / | / | / | / | LHON | Original paper family label: L3 | | 1111 | 11778 | m.11778G\>A | G11778A\-F592 | G11778A\-F592\-P1 | Fam | ND | Y | Y | A | ND | / | / | / | / | LHON | Original paper family label: L5 | | 1112 | 11778 | m.11778G\>A | G11778A\-F593 | G11778A\-F593\-P1 | Uninf | ND | Y | Y | A | ND | / | / | / | / | LHON | Original paper family label: L12 | | 1113 | 11778 | m.11778G\>A | G11778A\-F594 | G11778A\-F594\-P1 | Uninf | ND | Y | Y | A | ND | / | / | / | / | LHON | Original paper family label: L14 | | 1114 | 11778 | m.11778G\>A | G11778A\-F595 | G11778A\-F595\-P1 | Uninf | ND | Y | Y | A | ND | / | / | / | / | LHON | Original paper family label: L23 | | 1115 | 11778 | m.11778G\>A | G11778A\-F596 | G11778A\-F596\-P1 | Fam | ND | Y | Y | A | ND | / | / | / | / | LHON | Original paper family label: L26 | | 1116 | 11778 | m.11778G\>A | G11778A\-F597 | G11778A\-F597\-P1 | Fam | ND | Y | Y | A | ND | / | / | / | / | LHON | Original paper family label: L27 | | 1117 | 11778 | m.11778G\>A | G11778A\-F598 | G11778A\-F598\-P1 | Fam | ND | Y | Y | A | ND | / | / | / | / | LHON | Original paper family label: L28 | | 1118 | 11778 | m.11778G\>A | G11778A\-F599 | G11778A\-F599\-P1 | Fam | ND | Y | Y | A | ND | / | / | / | / | LHON | Original paper family label: L38 | | 1119 | 11778 | m.11778G\>A | G11778A\-F600 | G11778A\-F600\-P1 | Uninf | ND | Y | Y | A | ND | / | / | / | / | LHON | Original paper family label: L39 | | 1120 | 11778 | m.11778G\>A | G11778A\-F601 | G11778A\-F601\-P1 | Fam | ND | Y | Y | A | ND | / | / | / | / | LHON | Original paper family label: L42 | | 1121 | 11778 | m.11778G\>A | G11778A\-F602 | G11778A\-F602\-P1 | Uninf | ND | Y | Y | A | ND | / | / | / | / | LHON | Original paper family label: L43 | | 1122 | 11778 | m.11778G\>A | G11778A\-F603 | G11778A\-F603\-P1 | Uninf | ND | Y | Y | A | ND | / | / | / | / | LHON | Original paper family label: L49 | | 1123 | 11778 | m.11778G\>A | G11778A\-F604 | G11778A\-F604\-P1 | Uninf | ND | Y | Y | A | ND | / | / | / | / | LHON | Original paper family label: L52 | | 1124 | 11778 | m.11778G\>A | G11778A\-F605 | G11778A\-F605\-P1 | Uninf | ND | Y | Y | A | ND | / | / | / | / | LHON | Original paper family label: L53 | | 1125 | 11778 | m.11778G\>A | G11778A\-F606 | G11778A\-F606\-P1 | Uninf | ND | Y | Y | A | ND | / | / | / | / | LHON | Original paper family label: L60 | | 1126 | 11778 | m.11778G\>A | G11778A\-F607 | G11778A\-F607\-IV1 | Fam | ND | Y | Y | A | 17 | 99\.2% | / | / | / | LHON; asymmetric visual field alteration, optic nerve pallor, and angiographic telangiectasias | Original carrier identifier: IV | | 1127 | 11778 | m.11778G\>A | G11778A\-F607 | G11778A\-F607\-III1 | Fam | ND | N | ND | ND | ND | / | / | / | / | ND | | | 1128 | 11778 | m.11778G\>A | G11778A\-F607 | G11778A\-F607\-IV2 | Fam | ND | N | ND | ND | ND | / | / | / | / | ND | | | 1129 | 11778 | m.11778G\>A | G11778A\-F607 | G11778A\-F607\-IV3 | Fam | ND | N | ND | ND | ND | / | / | / | / | ND | | | 1130 | 11778 | m.11778G\>A | G11778A\-F607 | G11778A\-F607\-IV4 | Fam | ND | N | ND | ND | ND | / | / | / | / | ND | | | 1131 | 11778 | m.11778G\>A | G11778A\-F607 | G11778A\-F607\-IV5 | Fam | ND | N | ND | ND | ND | / | / | / | / | ND | | | 1132 | 11778 | m.11778G\>A | G11778A\-F607 | G11778A\-F607\-IV6 | Fam | ND | N | ND | ND | ND | / | / | / | / | ND | | | 1133 | 11778 | m.11778G\>A | G11778A\-F608 | G11778A\-F608\-I1 | Uninf | ND | N | ND | ND | ND | / | / | / | / | ND | | | 1134 | 11778 | m.11778G\>A | G11778A\-F608 | G11778A\-F608\-II1 | Fam | ND | Y | Y | A | ND | 99\.1% | / | / | / | LHON; bilateral acute loss of vision suggestive of LHON | Original carrier identifier: II | | 1135 | 11778 | m.11778G\>A | G11778A\-F608 | G11778A\-F608\-II2 | Fam | ND | N | ND | ND | ND | / | / | / | / | ND | | | 1136 | 11778 | m.11778G\>A | G11778A\-F609 | G11778A\-F609\-II1 | Fam | M | N | Y | A | 35 | Homo | / | / | / | LHON; onset 11 y; visual acuity 0\.03/0\.05; severe impairment | | | 1137 | 11778 | m.11778G\>A | G11778A\-F609 | G11778A\-F609\-II2 | Fam | M | N | Y | A | 33 | Homo | / | / | / | LHON; onset 16 y; visual acuity 0\.1/0\.2; moderate impairment | | | 1138 | 11778 | m.11778G\>A | G11778A\-F609 | G11778A\-F609\-II3 | Fam | F | Y | Y | A | 39 | Homo | / | / | / | LHON; onset 19 y; visual acuity 0\.01/0\.01; profound impairment | | | 1139 | 11778 | m.11778G\>A | G11778A\-F609 | G11778A\-F609\-III1 | Fam | M | N | Y | A | 7 | Homo | / | / | / | LHON; onset 3 y; visual acuity 0\.02/0\.01; profound impairment | | | 1140 | 11778 | m.11778G\>A | G11778A\-F610 | G11778A\-F610\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | LHON | | | 1141 | 11778 | m.11778G\>A | G11778A\-F611 | G11778A\-F611\-P1 | Uninf | M | Y | Y | ND | 29 | / | / | / | / | LHON | Original ID: Patient 55 | | 1142 | 11778 | m.11778G\>A | G11778A\-F612 | G11778A\-F612\-I1 | Uninf | F | N | Y | A | ND | / | / | / | / | LHON | Original carrier identifier: SD1\-I2 | | 1143 | 11778 | m.11778G\>A | G11778A\-F612 | G11778A\-F612\-II1 | Fam | F | N | Y | A | ND | / | / | / | / | LHON | Original carrier identifier: SD1\-II2 | | 1144 | 11778 | m.11778G\>A | G11778A\-F612 | G11778A\-F612\-III1 | Fam | F | N | Y | A | ND | / | / | / | / | LHON | Original carrier identifier: SD1\-III2 | | 1145 | 11778 | m.11778G\>A | G11778A\-F612 | G11778A\-F612\-III2 | Fam | M | N | Y | A | ND | / | / | / | / | LHON | Original carrier identifier: SD1\-III3 | | 1146 | 11778 | m.11778G\>A | G11778A\-F612 | G11778A\-F612\-II2 | Fam | F | N | Y | A | ND | / | / | / | / | LHON | Original carrier identifier: SD1\-II4 | | 1147 | 11778 | m.11778G\>A | G11778A\-F612 | G11778A\-F612\-III3 | Fam | M | N | Y | A | ND | / | / | / | / | LHON | Original carrier identifier: SD1\-III4 | | 1148 | 11778 | m.11778G\>A | G11778A\-F612 | G11778A\-F612\-III4 | Fam | M | N | Y | A | ND | / | / | / | / | LHON | Original carrier identifier: SD1\-III5 | | 1149 | 11778 | m.11778G\>A | G11778A\-F612 | G11778A\-F612\-II3 | Fam | F | N | Y | A | ND | / | / | / | / | LHON | Original carrier identifier: SD1\-II6 | | 1150 | 11778 | m.11778G\>A | G11778A\-F612 | G11778A\-F612\-II4 | Fam | F | N | Y | A | ND | / | / | / | / | LHON | Original carrier identifier: SD1\-II8 | | 1151 | 11778 | m.11778G\>A | G11778A\-F612 | G11778A\-F612\-III5 | Fam | F | N | Y | A | ND | / | / | / | / | LHON | Original carrier identifier: SD1\-III8 | | 1152 | 11778 | m.11778G\>A | G11778A\-F612 | G11778A\-F612\-II5 | Fam | M | N | N | A | ND | / | / | / | / | Healthy | Original carrier identifier: SD1\-II9 | | 1153 | 11778 | m.11778G\>A | G11778A\-F612 | G11778A\-F612\-III6 | Fam | F | N | Y | A | ND | / | / | / | / | LHON | Original carrier identifier: SD1\-III10 | | 1154 | 11778 | m.11778G\>A | G11778A\-F612 | G11778A\-F612\-III7 | Fam | F | N | Y | A | ND | / | / | / | / | LHON | Original carrier identifier: SD1\-III12 | | 1155 | 11778 | m.11778G\>A | G11778A\-F612 | G11778A\-F612\-III8 | Fam | M | N | Y | A | ND | / | / | / | / | LHON | Original carrier identifier: SD1\-III13 | | 1156 | 11778 | m.11778G\>A | G11778A\-F612 | G11778A\-F612\-III9 | Fam | M | Y | Y | A | ND | / | / | / | / | LHON | Original carrier identifier: SD1\-III14 | | 1157 | 11778 | m.11778G\>A | G11778A\-F612 | G11778A\-F612\-III10 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | Original carrier identifier: SD1\-III15 | | 1158 | 11778 | m.11778G\>A | G11778A\-F613 | G11778A\-F613\-I1 | Uninf | F | N | Y | A | ND | / | / | / | / | LHON | Original carrier identifier: XT\-I1 | | 1159 | 11778 | m.11778G\>A | G11778A\-F613 | G11778A\-F613\-III1 | Fam | M | Y | Y | A | ND | / | / | / | / | LHON | Original carrier identifier: XT\-III1 | | 1160 | 11778 | m.11778G\>A | G11778A\-F613 | G11778A\-F613\-II1 | Fam | F | N | Y | A | ND | / | / | / | / | LHON | Original carrier identifier: XT\-II2 | | 1161 | 11778 | m.11778G\>A | G11778A\-F613 | G11778A\-F613\-III2 | Fam | F | N | Y | A | ND | / | / | / | / | LHON | Original carrier identifier: XT\-III2 | | 1162 | 11778 | m.11778G\>A | G11778A\-F613 | G11778A\-F613\-III3 | Fam | M | N | Y | A | ND | / | / | / | / | LHON | Original carrier identifier: XT\-III3 | | 1163 | 11778 | m.11778G\>A | G11778A\-F613 | G11778A\-F613\-II2 | Fam | M | N | Y | A | ND | / | / | / | / | LHON | Original carrier identifier: XT\-II5 | | 1164 | 11778 | m.11778G\>A | G11778A\-F613 | G11778A\-F613\-III4 | Fam | F | N | Y | A | ND | / | / | / | / | LHON | Original carrier identifier: XT\-III5 | | 1165 | 11778 | m.11778G\>A | G11778A\-F614 | G11778A\-F614\-II1 | Fam | F | N | Y | A | ND | / | / | / | / | LHON | Original carrier identifier: AH\-II2 | | 1166 | 11778 | m.11778G\>A | G11778A\-F614 | G11778A\-F614\-III1 | Fam | M | Y | Y | A | ND | / | / | / | / | LHON | Original carrier identifier: AH\-III2 | | 1167 | 11778 | m.11778G\>A | G11778A\-F615 | G11778A\-F615\-I1 | Uninf | F | N | N | A | 45 | Heteroplasmic | / | / | / | Healthy | | | 1168 | 11778 | m.11778G\>A | G11778A\-F615 | G11778A\-F615\-II1 | Fam | M | Y | Y | A | 15 | Homo | / | / | / | LHON; simultaneous binocular vision loss; central scotoma | | | 1169 | 11778 | m.11778G\>A | G11778A\-F615 | G11778A\-F615\-II2 | Fam | F | N | N | A | 12 | Homo | / | / | / | Healthy | | | 1170 | 11778 | m.11778G\>A | G11778A\-F615 | G11778A\-F615\-II3 | Fam | M | N | N | A | 4 | Heteroplasmic | / | / | / | Healthy | | | 1171 | 11778 | m.11778G\>A | G11778A\-F616 | G11778A\-F616\-I1 | Uninf | F | N | N | A | 39 | Homo | / | / | / | Healthy | | | 1172 | 11778 | m.11778G\>A | G11778A\-F616 | G11778A\-F616\-II1 | Fam | M | Y | Y | A | 13 | Homo | / | / | / | LHON; poor vision both eyes; centrocecal scotoma | | | 1173 | 11778 | m.11778G\>A | G11778A\-F617 | G11778A\-F617\-P1 | Uninf | M | Y | Y | A | 30 | Homo | / | / | / | LHON; painless gradual low vision both eyes; central scotoma | Original carrier identifier: P3 | | 1174 | 11778 | m.11778G\>A | G11778A\-F618 | G11778A\-F618\-P1 | Uninf | M | Y | Y | A | 55 | Homo | / | / | / | LHON; simultaneous vision loss; central scotoma | Special history/medication: Singleton proband P4; moderate alcohol/cigarette factor noted in paper | | 1175 | 11778 | m.11778G\>A | G11778A\-F619 | G11778A\-F619\-P1 | Uninf | M | Y | Y | A | 20 | Homo | / | / | / | LHON; sudden vision loss left then right | Original carrier identifier: P5 | | 1176 | 11778 | m.11778G\>A | G11778A\-F620 | G11778A\-F620\-P1 | Uninf | M | Y | Y | A | 17 | Homo | / | / | / | LHON; blurred vision right then left; optic nerve atrophy | Original carrier identifier: P6 | | 1177 | 11778 | m.11778G\>A | G11778A\-F621 | G11778A\-F621\-III1 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | | | 1178 | 11778 | m.11778G\>A | G11778A\-F621 | G11778A\-F621\-III2 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | | | 1179 | 11778 | m.11778G\>A | G11778A\-F621 | G11778A\-F621\-III3 | Fam | M | N | Y | A | ND | Homo | / | / | / | LHON | | | 1180 | 11778 | m.11778G\>A | G11778A\-F621 | G11778A\-F621\-III4 | Fam | F | N | Y | A | ND | Homo | / | / | / | Subclinical LHON | | | 1181 | 11778 | m.11778G\>A | G11778A\-F621 | G11778A\-F621\-IV1 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | | | 1182 | 11778 | m.11778G\>A | G11778A\-F621 | G11778A\-F621\-IV2 | Fam | M | Y | Y | A | ND | Homo | / | / | / | LHON; early onset visual impairment | | | 1183 | 11778 | m.11778G\>A | G11778A\-F622 | G11778A\-F622\-II1 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | | | 1184 | 11778 | m.11778G\>A | G11778A\-F622 | G11778A\-F622\-III1 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy | | | 1185 | 11778 | m.11778G\>A | G11778A\-F622 | G11778A\-F622\-III2 | Fam | M | Y | Y | A | ND | Homo | / | / | / | LHON; typical ocular presentation | | | 1186 | 11778 | m.11778G\>A | G11778A\-F623 | G11778A\-F623\-II1 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | | | 1187 | 11778 | m.11778G\>A | G11778A\-F623 | G11778A\-F623\-III1 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | | | 1188 | 11778 | m.11778G\>A | G11778A\-F623 | G11778A\-F623\-III2 | Fam | M | Y | Y | A | ND | Homo | / | / | / | LHON; rapidly developed ocular manifestations; microangiopathic brain lesions | | | 1189 | 11778 | m.11778G\>A | G11778A\-F624 | G11778A\-F624\-III1 | Fam | ND | N | N | A | ND | Homo | / | / | / | Healthy | | | 1190 | 11778 | m.11778G\>A | G11778A\-F624 | G11778A\-F624\-III2 | Fam | ND | N | N | A | ND | Homo | / | / | / | Healthy | | | 1191 | 11778 | m.11778G\>A | G11778A\-F624 | G11778A\-F624\-III3 | Fam | M | N | Y | A | ND | Homo | / | / | / | Symptomatic LHON | | | 1192 | 11778 | m.11778G\>A | G11778A\-F624 | G11778A\-F624\-III4 | Fam | F | N | Y | A | ND | Homo | / | / | / | Subclinical LHON | | | 1193 | 11778 | m.11778G\>A | G11778A\-F624 | G11778A\-F624\-IV1 | Fam | M | N | Y | A | ND | Homo | / | / | / | LHON | | | 1194 | 11778 | m.11778G\>A | G11778A\-F624 | G11778A\-F624\-IV2 | Fam | M | N | Y | A | ND | Homo | / | / | / | LHON | | | 1195 | 11778 | m.11778G\>A | G11778A\-F624 | G11778A\-F624\-IV3 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | | | 1196 | 11778 | m.11778G\>A | G11778A\-F624 | G11778A\-F624\-IV4 | Fam | M | Y | Y | A | ND | Homo | / | / | / | with LHON; early visual impairment and motor function alterations | | | 1197 | 11778 | m.11778G\>A | G11778A\-F625 | G11778A\-F625\-II1 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | | | 1198 | 11778 | m.11778G\>A | G11778A\-F625 | G11778A\-F625\-II2 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | | | 1199 | 11778 | m.11778G\>A | G11778A\-F625 | G11778A\-F625\-III1 | Fam | M | N | Y | A | ND | Homo | / | / | / | Symptomatic LHON | | | 1200 | 11778 | m.11778G\>A | G11778A\-F625 | G11778A\-F625\-III2 | Fam | M | Y | Y | A | ND | Homo | / | / | / | with typical ocular LHON; heart valve defects | | | 1201 | 11778 | m.11778G\>A | G11778A\-F626 | G11778A\-F626\-II1 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | | | 1202 | 11778 | m.11778G\>A | G11778A\-F626 | G11778A\-F626\-III1 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | | | 1203 | 11778 | m.11778G\>A | G11778A\-F626 | G11778A\-F626\-III2 | Fam | M | Y | Y | A | ND | Homo | / | / | / | with rapid ocular course; microangiopathic brain lesions, heart valve defects, glaucoma/headache | | | 1204 | 11778 | m.11778G\>A | G11778A\-F626 | G11778A\-F626\-IV1 | Fam | F | N | Y | A | ND | Homo | / | / | / | Symptomatic LHON | | | 1205 | 11778 | m.11778G\>A | G11778A\-F627 | G11778A\-F627\-P1 | Fam | M | Y | Y | A | 14 | Homo | / | / | / | LHON; visual loss | Original ID: A1 | | 1206 | 11778 | m.11778G\>A | G11778A\-F628 | G11778A\-F628\-II1 | Fam | M | Y | Y | A | 16 | Homo | / | / | / | LHON; visual loss | Original ID: A2 | | 1207 | 11778 | m.11778G\>A | G11778A\-F628 | G11778A\-F628\-II2 | Fam | F | N | N | A | 48 | Homo | / | / | / | Healthy | Original ID: C9 | | 1208 | 11778 | m.11778G\>A | G11778A\-F629 | G11778A\-F629\-II1 | Fam | M | Y | Y | A | 17 | Homo | / | / | / | LHON; visual loss | Original ID: A3 | | 1209 | 11778 | m.11778G\>A | G11778A\-F629 | G11778A\-F629\-II2 | Fam | F | N | N | A | 36 | Homo | / | / | / | Healthy | Original ID: C3 | | 1210 | 11778 | m.11778G\>A | G11778A\-F629 | G11778A\-F629\-II3 | Fam | M | N | Y | A | 21 | Homo | / | / | / | LHON; visual loss | Original ID: A5 | | 1211 | 11778 | m.11778G\>A | G11778A\-F630 | G11778A\-F630\-P1 | Fam | M | Y | Y | A | 19 | Homo | / | / | / | LHON; visual loss | Original ID: A4 | | 1212 | 11778 | m.11778G\>A | G11778A\-F631 | G11778A\-F631\-P1 | Fam | M | Y | Y | A | 24 | Homo | / | / | / | LHON; visual loss | Original ID: A6 | | 1213 | 11778 | m.11778G\>A | G11778A\-F632 | G11778A\-F632\-II1 | Fam | F | N | N | A | 44 | Homo | / | / | / | Healthy | Original ID: C6 | | 1214 | 11778 | m.11778G\>A | G11778A\-F632 | G11778A\-F632\-II2 | Fam | M | Y | Y | A | 25 | Homo | / | / | / | LHON; visual loss | Original ID: A7 | | 1215 | 11778 | m.11778G\>A | G11778A\-F632 | G11778A\-F632\-II3 | Fam | F | N | N | A | 45 | Homo | / | / | / | Healthy | Original ID: C7 | | 1216 | 11778 | m.11778G\>A | G11778A\-F632 | G11778A\-F632\-II4 | Fam | M | N | Y | A | 27 | Homo | / | / | / | LHON; visual loss | Original ID: A8 | | 1217 | 11778 | m.11778G\>A | G11778A\-F633 | G11778A\-F633\-P1 | Fam | M | Y | Y | A | 27 | Homo | / | / | / | LHON; visual loss | Original ID: A9 | | 1218 | 11778 | m.11778G\>A | G11778A\-F634 | G11778A\-F634\-P1 | Fam | M | Y | Y | A | 31 | Homo | / | / | / | LHON; visual loss | Original ID: A10 | | 1219 | 11778 | m.11778G\>A | G11778A\-F635 | G11778A\-F635\-P1 | Fam | M | Y | Y | A | 33 | Heteroplasmic | / | / | / | LHON; visual loss | Original ID: A11 | | 1220 | 11778 | m.11778G\>A | G11778A\-F636 | G11778A\-F636\-P1 | Fam | M | Y | Y | A | 33 | Homo | / | / | / | LHON; visual loss | Original ID: A12 | | 1221 | 11778 | m.11778G\>A | G11778A\-F637 | G11778A\-F637\-II1 | Fam | M | N | N | A | 18 | Heteroplasmic | / | / | / | Healthy | Original ID: C2 | | 1222 | 11778 | m.11778G\>A | G11778A\-F637 | G11778A\-F637\-II2 | Fam | F | N | N | A | 38 | Heteroplasmic | / | / | / | Healthy | Original ID: C5 | | 1223 | 11778 | m.11778G\>A | G11778A\-F637 | G11778A\-F637\-II3 | Fam | F | N | N | A | 48 | Heteroplasmic | / | / | / | Healthy | Original ID: C8 | | 1224 | 11778 | m.11778G\>A | G11778A\-F637 | G11778A\-F637\-II4 | Fam | F | N | N | A | 56 | Homo | / | / | / | Healthy | Original ID: C10 | | 1225 | 11778 | m.11778G\>A | G11778A\-F637 | G11778A\-F637\-II5 | Fam | M | Y | Y | A | 33 | Homo | / | / | / | LHON; visual loss | Original ID: A13 | | 1226 | 11778 | m.11778G\>A | G11778A\-F638 | G11778A\-F638\-II1 | Fam | F | N | N | A | 14 | Homo | / | / | / | Healthy | Original ID: C1 | | 1227 | 11778 | m.11778G\>A | G11778A\-F638 | G11778A\-F638\-II2 | Fam | F | N | N | A | 36 | Homo | / | / | / | Healthy | Original ID: C4 | | 1228 | 11778 | m.11778G\>A | G11778A\-F638 | G11778A\-F638\-II3 | Fam | F | N | N | A | 57 | Homo | / | / | / | Healthy | Original ID: C11 | | 1229 | 11778 | m.11778G\>A | G11778A\-F638 | G11778A\-F638\-II4 | Fam | F | Y | Y | A | 39 | Homo | / | / | / | LHON; visual loss | Original ID: A14 | | 1230 | 11778 | m.11778G\>A | G11778A\-F638 | G11778A\-F638\-II5 | Fam | M | N | Y | A | 62 | Homo | / | / | / | LHON; visual loss | Original ID: A15 | | 1231 | 11778 | m.11778G\>A | G11778A\-F639 | G11778A\-F639\-II1 | Uninf | ND | ND | Y | ND | ND | / | / | / | / | LHON | | | 1232 | 11778 | m.11778G\>A | G11778A\-F639 | G11778A\-F639\-II2 | Uninf | ND | N | N | ND | ND | / | / | / | / | Healthy | | | 1233 | 11778 | m.11778G\>A | G11778A\-F640 | G11778A\-F640\-P1 | Uninf | M | Y | Y | ND | 27 | Homo | / | / | / | Paranoid schizophrenia; treatment\-resistant; imperative auditory hallucinations; delusions of coercion and destruction; no visual impairment reported | | | 1234 | 11778 | m.11778G\>A | G11778A\-F641 | G11778A\-F641\-P1 | Uninf | M | Y | Y | A | 51 | / | / | / | Homo(ND) | Late\-onset LHON; bilateral visual loss after COVID/alcohol exposure context | Original ID: Case 2 | | 1235 | 11778 | m.11778G\>A | G11778A\-F642 | G11778A\-F642\-P1 | Fam | F | Y | Y | A | 60 | / | / | / | Homo(ND) | Late\-onset LHON; bilateral visual loss | Original ID: Case 3 | | 1236 | 11778 | m.11778G\>A | G11778A\-F643 | G11778A\-F643\-P1 | Uninf | M | Y | ND | A | 3 | 91\.7% | / | / | / | ND | Original carrier identifier: Patient\_875 | | 1237 | 11778 | m.11778G\>A | G11778A\-F644 | G11778A\-F644\-P1 | Fam | M | Y | Y | A | 17 | / | / | / | / | LHON; onset age 14; VA RE 0\.795, LE ND; fundus and disc pallor yes; visual field BE\-large CS; optic atrophy yes | | | 1238 | 11778 | m.11778G\>A | G11778A\-F645 | G11778A\-F645\-P1 | Uninf | M | Y | Y | A | 37 | / | / | / | / | LHON; onset age 10; VA RE 0\.795, LE 0\.795; fundus temporal pallor; disc pallor yes; visual field RE\-few central depressed spots; optic atrophy no | | | 1239 | 11778 | m.11778G\>A | G11778A\-F646 | G11778A\-F646\-P1 | Fam | M | Y | Y | A | 18 | / | / | / | / | LHON; onset age 15; VA RE 1\.204, LE 1\.000; fundus and disc pallor yes; visual field BE\-large CS; optic atrophy yes | | | 1240 | 11778 | m.11778G\>A | G11778A\-F647 | G11778A\-F647\-P1 | Fam | M | Y | Y | A | 44 | / | / | / | / | LHON; onset age 42; VA RE 0\.301, LE 0\.698; fundus and disc pallor yes; visual field ND; optic atrophy yes in LE | | | 1241 | 11778 | m.11778G\>A | G11778A\-F648 | G11778A\-F648\-P1 | Uninf | M | Y | Y | A | 13 | / | / | / | / | LHON; onset age 13; VA RE 1\.204, LE 1\.204; fundus and disc pallor yes; visual field BE\-CS; optic atrophy no | | | 1242 | 11778 | m.11778G\>A | G11778A\-F649 | G11778A\-F649\-P1 | Uninf | M | Y | Y | A | 35 | / | / | / | / | LHON; onset age 35; VA RE 1\.800, LE 1\.800; fundus and disc pallor yes; visual field ND; optic atrophy no | | | 1243 | 11778 | m.11778G\>A | G11778A\-F650 | G11778A\-F650\-P1 | Uninf | M | Y | Y | A | 40 | / | / | / | / | LHON; onset age 40; VA ND; fundus/disc pallor/visual field ND; optic atrophy no | | | 1244 | 11778 | m.11778G\>A | G11778A\-F651 | G11778A\-F651\-P1 | Uninf | M | Y | Y | A | 16 | / | / | / | / | LHON; onset age 16; VA RE 0\.300, LE 0\.602; fundus and disc pallor yes; visual field LE\-CS, RE few central depressed spots; optic atrophy no | | | 1245 | 11778 | m.11778G\>A | G11778A\-F652 | G11778A\-F652\-P1 | Fam | M | Y | Y | A | 17 | / | / | / | / | LHON; onset age 17; VA RE 1\.000, LE 1\.000; fundus HD; disc pallor yes; visual field BE\-cs; optic atrophy no | | | 1246 | 11778 | m.11778G\>A | G11778A\-F653 | G11778A\-F653\-P1 | Uninf | M | Y | Y | A | 28 | / | / | / | / | LHON; onset age 28; VA RE 2\.000, LE 2\.000; fundus and disc pallor yes; visual field BE\-cs; optic atrophy no | | | 1247 | 11778 | m.11778G\>A | G11778A\-F654 | G11778A\-F654\-P1 | Uninf | M | Y | Y | A | 15 | / | / | / | / | LHON; onset age 15; VA RE 1\.800, LE 1\.204; fundus and disc pallor yes; visual field RE\-cs, LE\-CS; optic atrophy no | | | 1248 | 11778 | m.11778G\>A | G11778A\-F655 | G11778A\-F655\-P1 | Uninf | M | Y | Y | A | 43 | / | / | / | / | LHON; onset age 38; VA 0/0; fundus RE\-SP, LE\-PD; disc pallor yes; visual field BE\-IFD; optic atrophy yes | | | 1249 | 11778 | m.11778G\>A | G11778A\-F656 | G11778A\-F656\-P1 | Fam | M | Y | Y | A | 16 | / | / | / | / | LHON; onset age 16; VA RE 1\.301, LE 0\.795; fundus yes; disc pallor only RE; visual field BE\-CS; optic atrophy no | | | 1250 | 11778 | m.11778G\>A | G11778A\-F657 | G11778A\-F657\-P1 | Fam | M | Y | Y | A | 47 | / | / | / | / | LHON; onset age 45; VA RE 0\.795, LE 0\.698; fundus and disc pallor yes; visual field RE\-AFL, LE\-CS; optic atrophy no | | | 1251 | 11778 | m.11778G\>A | G11778A\-F658 | G11778A\-F658\-P1 | Uninf | M | Y | Y | A | 8 | / | / | / | / | LHON; onset age 8; VA RE 0\.477, LE 1\.301; fundus temporal pallor; disc pallor only LE; visual field BE\-cs; optic atrophy no | | | 1252 | 11778 | m.11778G\>A | G11778A\-F659 | G11778A\-F659\-P1 | Uninf | M | Y | Y | A | 31 | / | / | / | / | LHON; onset age 31; VA RE 1\.602, LE 1\.800; fundus temporal pallor; disc pallor yes; visual field ND; optic atrophy no | | | 1253 | 11778 | m.11778G\>A | G11778A\-F660 | G11778A\-F660\-P1 | Uninf | M | Y | Y | A | 30 | / | / | / | / | LHON; onset age 29; VA RE 1\.800, LE 2\.000; fundus diffuse pallor; disc pallor yes; visual field ND; optic atrophy no | | | 1254 | 11778 | m.11778G\>A | G11778A\-F661 | G11778A\-F661\-P1 | Fam | M | Y | Y | A | 19 | / | / | / | / | LHON; onset age 19; VA RE 2\.300, LE 2\.300; fundus and disc pallor yes; visual field ND; optic atrophy no | | | 1255 | 11778 | m.11778G\>A | G11778A\-F662 | G11778A\-F662\-P1 | Uninf | M | Y | Y | A | 18 | / | / | / | / | LHON; onset age 16; VA RE 1\.800, LE 1\.800; fundus and disc pallor yes; visual field ND; optic atrophy no | | | 1256 | 11778 | m.11778G\>A | G11778A\-F663 | G11778A\-F663\-P1 | Uninf | M | Y | Y | A | 23 | / | / | / | / | LHON; onset age 23; VA RE 1\.000, LE 1\.800; fundus and disc pallor yes; visual field RE\-cs, LE\-ND; optic atrophy no | | | 1257 | 11778 | m.11778G\>A | G11778A\-F664 | G11778A\-F664\-P1 | Uninf | M | Y | Y | A | 31 | / | / | / | / | LHON; onset age 24; VA RE 0\.795, LE 0\.795; fundus temporal pallor; disc pallor yes; visual field BE\-GFL; optic atrophy no | | | 1258 | 11778 | m.11778G\>A | G11778A\-F665 | G11778A\-F665\-P1 | Fam | M | Y | Y | A | 21 | / | / | / | / | LHON; onset age 21; VA RE 1\.000, LE 1\.778; fundus and disc pallor yes; visual field BE\-AFL; optic atrophy no | | | 1259 | 11778 | m.11778G\>A | G11778A\-F666 | G11778A\-F666\-P1 | Uninf | M | Y | Y | A | 18 | / | / | / | / | LHON; onset age 18; VA RE 1\.204, LE 1\.477; fundus RE mild blurred disc margin, LE mild pallor; disc pallor yes; visual field ND; optic atrophy no | | | 1260 | 11778 | m.11778G\>A | G11778A\-F667 | G11778A\-F667\-P1 | Fam | M | Y | Y | A | 35 | / | / | / | / | LHON; onset age 35; VA RE 1\.800, LE 1\.800; fundus and disc pallor yes; visual field BE\-GFL; optic atrophy no | | | 1261 | 11778 | m.11778G\>A | G11778A\-F668 | G11778A\-F668\-P1 | Fam | M | Y | Y | A | 21 | / | / | / | / | LHON; onset age 21; VA RE 0\.602, LE 0\.903; BE mild RNFL edema; disc pallor yes; visual field BE enlarged blind spot with cs; optic atrophy no | | | 1262 | 11778 | m.11778G\>A | G11778A\-F669 | G11778A\-F669\-P1 | Uninf | M | Y | Y | A | 17 | / | / | / | / | LHON; onset age 17; VA RE 1\.800, LE 1\.800; fundus and disc pallor yes; visual field BE\-DF; optic atrophy no | | | 1263 | 11778 | m.11778G\>A | G11778A\-F670 | G11778A\-F670\-P1 | Fam | M | Y | Y | A | 18 | / | / | / | / | LHON; onset age 18; VA RE 2\.000, LE 2\.000; fundus diffuse pallor; disc pallor yes; visual field ND; optic atrophy no | | | 1264 | 11778 | m.11778G\>A | G11778A\-F671 | G11778A\-F671\-P1 | Uninf | M | Y | Y | A | 17 | / | / | / | / | LHON; onset age 17; VA RE 1\.778, LE 2\.000; fundus trace pallor; disc pallor yes; visual field ND; optic atrophy no | | | 1265 | 11778 | m.11778G\>A | G11778A\-F672 | G11778A\-F672\-P1 | Uninf | M | Y | Y | A | 19 | / | / | / | / | LHON; gradual sequential bilateral visual loss | Original ID: Patient 1; Treatment history: idebenone non\-response; no response to 4\-AP add\-on therapy | | 1266 | 11778 | m.11778G\>A | G11778A\-F673 | G11778A\-F673\-P1 | Uninf | ND | Y | Y | ND | 36\.4 | 96% | / | / | / | LHON plus | Original ID: Case 30 | | 1267 | 11778 | m.11778G\>A | G11778A\-F674 | G11778A\-F674\-II1 | Fam | ND | Y | Y | ND | 15 | / | / | / | 98%(Saliva) | Optic atrophy; vision loss | Original ID: Case 31 | | 1268 | 11778 | m.11778G\>A | G11778A\-F674 | G11778A\-F674\-I1 | Uninf | F | N | ND | ND | ND | / | / | / | 96\.5%(Saliva) | ND | Original ID: Case 31 mother | | 1269 | 11778 | m.11778G\>A | G11778A\-F675 | G11778A\-F675\-P1 | Uninf | ND | Y | Y | ND | 64 | / | / | / | 100%(Saliva) | LHON | Original ID: Case 32 | | 1270 | 11778 | m.11778G\>A | G11778A\-F676 | G11778A\-F676\-II1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | Childhood\-onset LHON, age at onset \<\=12 years | Original ID: ChO group; Coexisting variant: m.14484T\>C (two ChO patients) | | 1271 | 11778 | m.11778G\>A | G11778A\-F676 | G11778A\-F676\-II2 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | Early\-teenage\-onset LHON, age at onset 13\-16 years | Original ID: eTO group | | 1272 | 11778 | m.11778G\>A | G11778A\-F677 | G11778A\-F677\-P1 | Fam | ND | Y | Y | A | ND | / | / | / | / | LHON | Coexisting variant: m.4435A\>G. Original pedigree identifier: WZ2\. Table 2 known pedigree aggregate: affected male:female 6:2 | | 1273 | 11778 | m.11778G\>A | G11778A\-F678 | G11778A\-F678\-IV2 | Fam | ND | Y | Y | A | ND | / | / | / | / | LHON | Coexisting variant: m.15927G\>A. Original pedigree identifier: WZ541\. Table 2 known pedigree aggregate: affected male:female 2:1 | | 1274 | 11778 | m.11778G\>A | G11778A\-F679 | G11778A\-F679\-IV1 | Fam | ND | Y | Y | A | ND | / | / | / | / | LHON | Coexisting variant: m.15927G\>A. Original pedigree identifier: WZ502\. Table 2 known pedigree aggregate: affected male:female 0:3 | | 1275 | 11778 | m.11778G\>A | G11778A\-F680 | G11778A\-F680\-III2 | Fam | ND | Y | Y | A | ND | / | / | / | / | LHON | Coexisting variant: m.15927G\>A. Original pedigree identifier: WZ312\. Table 2 known pedigree aggregate: affected male:female 1:0 | | 1276 | 11778 | m.11778G\>A | G11778A\-F681 | G11778A\-F681\-IV5 | Fam | ND | Y | Y | A | ND | / | / | / | / | LHON | Coexisting variant: m.15927G\>A. Original pedigree identifier: XT194\. Table 2 known pedigree aggregate: affected male:female 5:4 | | 1277 | 11778 | m.11778G\>A | G11778A\-F682 | G11778A\-F682\-IV1 | Fam | ND | Y | Y | A | ND | / | / | / | / | LHON | Coexisting variant: m.15927G\>A. Original pedigree identifier: XT290\. Table 2 known pedigree aggregate: affected male:female 1:5 | | 1278 | 11778 | m.11778G\>A | G11778A\-F683 | G11778A\-F683\-P1 | Fam | ND | Y | Y | A | ND | / | / | / | / | LHON | Coexisting variant: m.15951A\>G. Original pedigree identifier: WZ3\. Table 2 known pedigree aggregate: affected male:female 4:2 | | 1279 | 11778 | m.11778G\>A | G11778A\-F684 | G11778A\-F684\-II4 | Fam | ND | Y | Y | A | ND | / | / | / | / | LHON | Coexisting variant: m.15951A\>G. Original pedigree identifier: WZ355\. Table 2 known pedigree aggregate: affected male:female 1:3 | | 1280 | 11778 | m.11778G\>A | G11778A\-F685 | G11778A\-F685\-II1 | Fam | ND | Y | Y | A | ND | / | / | / | / | LHON | Coexisting variant: m.15951A\>G. Original pedigree identifier: WZ419\. Table 2 known pedigree aggregate: affected male:female 1:0 | | 1281 | 11778 | m.11778G\>A | G11778A\-F686 | G11778A\-F686\-III1 | Fam | ND | Y | Y | A | ND | / | / | / | / | LHON | Coexisting variant: m.15951A\>G. Original pedigree identifier: XT209\. Table 2 known pedigree aggregate: affected male:female 1:2 | | 1282 | 11778 | m.11778G\>A | G11778A\-F687 | G11778A\-F687\-II12 | Fam | ND | Y | Y | A | ND | / | / | / | / | LHON | Coexisting variant: m.15951A\>G. Original pedigree identifier: XT253\. Table 2 known pedigree aggregate: affected male:female 4:2 | | 1283 | 11778 | m.11778G\>A | G11778A\-F688 | G11778A\-F688\-III3 | Fam | ND | Y | Y | A | ND | / | / | / | / | LHON | Coexisting variant: m.644A\>G. Original pedigree identifier: WZ1186\. Table 3 putative pedigree aggregate: affected male:female 2:1 | | 1284 | 11778 | m.11778G\>A | G11778A\-F689 | G11778A\-F689\-III3 | Fam | ND | Y | Y | A | ND | / | / | / | / | LHON | Coexisting variant: m.644A\>G. Original pedigree identifier: WZ1208\. Table 3 putative pedigree aggregate: affected male:female 1:0 | | 1285 | 11778 | m.11778G\>A | G11778A\-F690 | G11778A\-F690\-III3 | Fam | ND | Y | Y | A | ND | / | / | / | / | LHON | Coexisting variant: m.4316A\>G. Original pedigree identifier: WZ1140\. Table 3 putative pedigree aggregate: affected male:female 2:2 | | 1286 | 11778 | m.11778G\>A | G11778A\-F691 | G11778A\-F691\-IV3 | Fam | ND | Y | Y | A | ND | / | / | / | / | LHON | Coexisting variant: m.5527A\>G. Original pedigree identifier: WZ1212\. Table 3 putative pedigree aggregate: affected male:female 7:0 | | 1287 | 11778 | m.11778G\>A | G11778A\-F692 | G11778A\-F692\-III3 | Fam | ND | Y | Y | A | ND | / | / | / | / | LHON | Coexisting variant: m.5558A\>G. Original pedigree identifier: WZ547\. Table 3 putative pedigree aggregate: affected male:female 1:3 | | 1288 | 11778 | m.11778G\>A | G11778A\-F693 | G11778A\-F693\-III1 | Fam | ND | Y | Y | A | ND | / | / | / | / | LHON | Coexisting variant: m.5558A\>G. Original pedigree identifier: WZ603\. Table 3 putative pedigree aggregate: affected male:female 2:2 | | 1289 | 11778 | m.11778G\>A | G11778A\-F694 | G11778A\-F694\-III3 | Fam | ND | Y | Y | A | ND | / | / | / | / | LHON | Coexisting variant: m.5715A\>G. Original pedigree identifier: XT166\. Table 3 putative pedigree aggregate: affected male:female 1:2 | | 1290 | 11778 | m.11778G\>A | G11778A\-F695 | G11778A\-F695\-III1 | Fam | ND | Y | Y | A | ND | / | / | / | / | LHON | Coexisting variant: m.10055A\>G. Original pedigree identifier: WZ862\. Table 3 putative pedigree aggregate: affected male:female 2:1 | | 1291 | 11778 | m.11778G\>A | G11778A\-F696 | G11778A\-F696\-III2 | Fam | ND | Y | Y | A | ND | / | / | / | / | LHON | Coexisting variant: m.10438A\>G. Original pedigree identifier: WZ1243\. Table 3 putative pedigree aggregate: affected male:female 3:1 | | 1292 | 11778 | m.11778G\>A | G11778A\-F697 | G11778A\-F697\-IV1 | Fam | ND | Y | Y | A | ND | / | / | / | / | LHON | Coexisting variant: m.12141A\>G. Original pedigree identifier: WZ717\. Table 3 putative pedigree aggregate: affected male:female 4:2 | | 1293 | 11778 | m.11778G\>A | G11778A\-F698 | G11778A\-F698\-III4 | Fam | ND | Y | Y | A | ND | / | / | / | / | LHON | Coexisting variant: m.12223A\>G. Original pedigree identifier: WZ508\. Table 3 putative pedigree aggregate: affected male:female 3:4 | | 1294 | 11778 | m.11778G\>A | G11778A\-F699 | G11778A\-F699\-V1 | Fam | ND | Y | Y | A | ND | / | / | / | / | LHON | Coexisting variant: m.12223A\>G. Original pedigree identifier: WZ790\. Table 3 putative pedigree aggregate: affected male:female 7:4 | | 1295 | 11778 | m.11778G\>A | G11778A\-F700 | G11778A\-F700\-IV5 | Fam | ND | Y | Y | A | ND | / | / | / | / | LHON | Coexisting variant: m.12308A\>G. Original pedigree identifier: WZ489\. Table 3 putative pedigree aggregate: affected male:female 4:4 | | 1296 | 11778 | m.11778G\>A | G11778A\-F701 | G11778A\-F701\-IV2 | Fam | ND | Y | Y | A | ND | / | / | / | / | LHON | Coexisting variant: m.12308A\>G. Original pedigree identifier: WZ748\. Table 3 putative pedigree aggregate: affected male:female 4:0 | | 1297 | 11778 | m.11778G\>A | G11778A\-F702 | G11778A\-F702\-III2 | Fam | ND | Y | Y | A | ND | / | / | / | / | LHON | Coexisting variant: m.12308A\>G. Original pedigree identifier: WZ1028\. Table 3 putative pedigree aggregate: affected male:female 2:2 | | 1298 | 11778 | m.11778G\>A | G11778A\-F703 | G11778A\-F703\-III2 | Fam | ND | Y | Y | A | ND | / | / | / | / | LHON | Coexisting variant: m.12308A\>G. Original pedigree identifier: XT255\. Table 3 putative pedigree aggregate: affected male:female 1:2 | | 1299 | 11778 | m.11778G\>A | G11778A\-F704 | G11778A\-F704\-III3 | Fam | ND | Y | Y | A | ND | / | / | / | / | LHON | Coexisting variant: m.14692A\>G. Original pedigree identifier: WZ883\. Table 3 putative pedigree aggregate: affected male:female 3:0 | | 1300 | 11778 | m.11778G\>A | G11778A\-F705 | G11778A\-F705\-P1 | Uninf | M | Y | Y | A | 34 | / | / | / | Homo(ND) | LHON onset/diagnosis at age 15 with progressive bilateral optic nerve atrophy; at age 34 admitted with progressive gait disturbance, sensory symptoms and MS diagnosis | | | 1301 | 11778 | m.11778G\>A | G11778A\-F706 | G11778A\-F706\-P1 | Uninf | M | Y | Y | A | 17 | / | / | / | / | LHON; bilateral sequential painless vision loss; finger\-counting visual acuity; bilateral disc hyperemia with nerve fiber layer edema and circumpapillary telangiectatic microangiopathy | Ethambutol exposure during anti\-tuberculous therapy preceded vision loss; treated with idebenone 450 mg/day and CoQ10 200 mg/day; vision stabilized over 6 years follow\-up after 4 years treatment/2 years off treatment. No pedigree figure or family member labels reported | | 1302 | 11778 | m.11778G\>A | G11778A\-F707 | G11778A\-F707\-II1 | Fam | M | Y | Y | A | 36 | / | / | / | Homo(F) | LHON | Original carrier identifier: Affected\-36M | | 1303 | 11778 | m.11778G\>A | G11778A\-F707 | G11778A\-F707\-II2 | Fam | M | N | N | A | 38 | / | / | / | Homo(F) | Healthy | Original carrier identifier: CarrierBrother\-38M | | 1304 | 11778 | m.11778G\>A | G11778A\-F708 | G11778A\-F708\-II1 | Fam | M | Y | Y | A | 55 | / | / | / | Homo(F) | LHON | Original carrier identifier: Affected\-55M | | 1305 | 11778 | m.11778G\>A | G11778A\-F708 | G11778A\-F708\-II2 | Fam | M | N | N | A | 46 | / | / | / | Homo(F) | Healthy | Original carrier identifier: CarrierBrother\-46M | | 1306 | 11778 | m.11778G\>A | G11778A\-F709 | G11778A\-F709\-P1 | Uninf | ND | Y | Y | A | 28 | / | / | / | Positive(F) | LHON; pathological optic discs with incomplete boundaries; optic nerve atrophy of varying degrees | Original carrier identifier: LHON\-1 | | 1307 | 11778 | m.11778G\>A | G11778A\-F710 | G11778A\-F710\-P1 | Uninf | ND | Y | Y | A | 32 | / | / | / | Positive(F) | LHON; pathological optic discs with incomplete boundaries; optic nerve atrophy of varying degrees | Original carrier identifier: LHON\-2 | | 1308 | 11778 | m.11778G\>A | G11778A\-F711 | G11778A\-F711\-II1 | Fam | M | Y | Y | A | 36 | / | / | / | Homo(F) | LHON; VA 1/1 | idebenone therapy: yes | | 1309 | 11778 | m.11778G\>A | G11778A\-F711 | G11778A\-F711\-II2 | Fam | F | N | N | A | 59 | / | / | / | Homo(F) | Healthy | idebenone therapy: no | | 1310 | 11778 | m.11778G\>A | G11778A\-F712 | G11778A\-F712\-P1 | Uninf | M | Y | Y | A | 22 | / | / | / | Homo(F) | LHON; VA CF 1m/CF 1m | idebenone therapy: yes | | 1311 | 11778 | m.11778G\>A | G11778A\-F713 | G11778A\-F713\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | LHON | | | 1312 | 11778 | m.11778G\>A | G11778A\-F714 | G11778A\-F714\-P1 | Uninf | M | Y | Y | A | 23 | / | / | / | Homo(F) | LHON; vision loss consistent with LHON | Original carrier identifier: patient samples | | 1313 | 11778 | m.11778G\>A | G11778A\-F715 | G11778A\-F715\-P1 | Uninf | M | Y | Y | A | 23 | / | / | / | Homo(F) | LHON; central scotoma from painless vision loss progressing to bilateral involvement | | | 1314 | 11778 | m.11778G\>A | G11778A\-F716 | G11778A\-F716\-II1 | Fam | ND | Y | Y | ND | ND | Homo | / | / | / | LHON; visual loss | Original carrier identifier: MT15 (paper label MT\-15\) | | 1315 | 11778 | m.11778G\>A | G11778A\-F716 | G11778A\-F716\-II2 | Fam | ND | N | Y | ND | ND | Homo | / | / | / | LHON; visual loss | Original carrier identifier: MT16 (paper label MT\-16\) | | 1316 | 11778 | m.11778G\>A | G11778A\-F716 | G11778A\-F716\-II3 | Fam | ND | N | Y | ND | ND | Homo | / | / | / | LHON; visual loss | Original carrier identifier: MT17 (paper label MT\-17\) | | 1317 | 11778 | m.11778G\>A | G11778A\-F716 | G11778A\-F716\-II4 | Fam | ND | N | Y | ND | ND | Homo | / | / | / | LHON; visual loss | Original carrier identifier: MT18 (paper label MT\-18\) | | 1318 | PDF3\-P040 | m.11778G\>A | G11778A\-F717 | G11778A\-F717\-P1 | Uninf | M | Y | Y | A | 43 | / | / | / | 10%(ND) | LHON; bilateral progressive visual loss; total dyschromatopsia; large central scotoma; fundus normal in the right eye and hyperemia in the left eye; visual acuity declined to finger counting | Original ID: Case 1 | | 1319 | PDF3\-P040 | m.11778G\>A | G11778A\-F718 | G11778A\-F718\-P1 | Uninf | M | Y | Y | A | 24 | / | / | / | Homo(ND) | LHON; subacute bilateral visual disturbance; small cecocentral scotoma initially; hyperemic discs; visual acuity deteriorated to finger counting with large central scotoma | Original ID: Case 2 | | 1320 | PDF3\-P040 | m.11778G\>A | G11778A\-F719 | G11778A\-F719\-P1 | Uninf | F | Y | Y | A | 31 | / | / | / | Homo(ND) | LHON; visual loss in both eyes; finger\-counting visual acuity; total dyschromatopsia; large central scotoma; severe optic atrophy | Original ID: Case 3 | | 1321 | PDF3\-P072 | m.11778G\>A | G11778A\-F720 | G11778A\-F720\-P1 | Uninf | M | Y | Y | D | 59 | / | / | / | / | LHON | | | 1322 | PDF3\-P072 | m.11778G\>A | G11778A\-F721 | G11778A\-F721\-P1 | Uninf | F | Y | N | D | 83 | / | / | / | / | Healthy | | For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).
Haoying Chen
2026年6月30日 19:46
转发
收藏文档
上一篇
下一篇
手机扫码
复制链接
手机扫一扫转发分享
复制链接
分享
链接
类型
密码
更新密码
有效期
Markdown文件
Word文件
PDF文档
PDF文档（打印）
