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MT-ND6
A14430C
A14495G
A14495G-F1
A14538G
A14582G
A14596T
A14596T-F1
A14597G
C14340T
C14342A
C14482A
C14482A-F5
C14482G
C14482G-F1
C14568T
C14568T-F1
C14568T-F2
G14258A
G14258A-F3
G14279A
G14279A-F1
G14439A
G14453A
G14459A
G14459A-F3
G14459A-F7
G14459A-F9
G14459A-F10
G14459A-F19
G14459A-F27
G14465A
G14600A
G14600A-F1
T14319C
T14325C
T14351C
T14441C
T14484C
T14484C-F6
T14484C-F7
T14484C-F9
T14484C-F38
T14484C-F40
T14484C-F41
T14484C-F53
T14484C-F55
T14484C-F58
T14484C-F63
T14484C-F68
T14484C-F70
T14484C-F87
T14484C-F127
T14484C-F128
T14484C-F135
T14484C-F138
T14484C-F148
T14484C-F163
T14498C
T14498C-F1
T14502C
T14502C-F2
T14502C-F6
T14502C-F7
T14502C-F8
T14502C-F9
T14577C
T14577C-F1
T14487C
T14487C-F8
T14487C-F10
T14487C-F13
T14487C-F24
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T14484C
# **General Information** | **Position** | **14484** | **Variant** | **m.14484T\>C** | **Locus** | **MT\-ND6** | **Amino\-AcidChange** | **M64V** | | --- | --- | --- | --- | --- | --- | --- | --- | | **Homoplasmy** | \+ | **Heteroplasmy** | \+ | **APOGEE2** | Likely\-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.14484T\>C** variant in MT\-ND6 has been reported in 202 pedigrees. To date, 315 carriers have been reported. Homoplasmy was reported in 180/315 carriers (57\.1%), and 262/315 carriers (83\.2%) were affected. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in blood (22%) and blood (50%) than in blood (11%). In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in blood (87%) than in blood (27%). Similar tissue\-specific differences were observed in 10 additional carriers. The main clinical manifestations among affected carriers included LHON, lHON bilateral visual impairment, lHON\_visual\_loss, mild, no\_visual\_recovery, bilateral central vision loss, lHON visual impairment, central scotoma, and other features. | **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** | | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | | 1 | 14484 | m.14484T\>C | T14484C\-F1 | Australia | Leber hereditary optic neuropathy | ND | ND | 1992 | [1463007](https://pubmed.ncbi.nlm.nih.gov/1463007/) | | | 2 | 14484 | m.14484T\>C | T14484C\-F2 | Australia | Leber hereditary optic neuropathy | 5 | 4 | 1992 | [1463007](https://pubmed.ncbi.nlm.nih.gov/1463007/) | | | 3 | 14484 | m.14484T\>C | T14484C\-F3 | USA | LHON | 0 | 0 | 1992 | [1732158](https://pubmed.ncbi.nlm.nih.gov/1732158/) | | | 4 | 14484 | m.14484T\>C | T14484C\-F4 | Japan | LHON | 0 | 0 | 1995 | [7603534](https://pubmed.ncbi.nlm.nih.gov/7603534/) | | | 5 | 14484 | m.14484T\>C | T14484C\-F5 | United States | LHON; bilateral optic neuropathy | 0 | 1 | 1995 | [7604366](https://pubmed.ncbi.nlm.nih.gov/7604366/) | | | 6 | 14484 | m.14484T\>C | [T14484C\-F6](https://mitofam.com/doc/2132/) | United Kingdom | LHON | 1 | 3 | 1995 | [7611298](https://pubmed.ncbi.nlm.nih.gov/7611298/) | Family 14 | | 7 | 14484 | m.14484T\>C | [T14484C\-F7](https://mitofam.com/doc/2133/) | United Kingdom | LHON | 1 | 0 | 1995 | [7611298](https://pubmed.ncbi.nlm.nih.gov/7611298/) | Family 18; carrying G11778A | | 8 | 14484 | m.14484T\>C | T14484C\-F8 | USA | LHON | 0 | 0 | 1995 | [7877803](https://pubmed.ncbi.nlm.nih.gov/7877803/) | | | 9 | 14484 | m.14484T\>C | [T14484C\-F9](https://mitofam.com/doc/2134/) | Germany | LHON | 5 | 2 | 1994 | [7977345](https://pubmed.ncbi.nlm.nih.gov/7977345/) | | | 10 | 14484 | m.14484T\>C | T14484C\-F10 | Germany | LHON | 0 | 0 | 1994 | [7977345](https://pubmed.ncbi.nlm.nih.gov/7977345/) | | | 11 | 14484 | m.14484T\>C | T14484C\-F11 | Germany | LHON | 0 | 0 | 1994 | [7977345](https://pubmed.ncbi.nlm.nih.gov/7977345/) | | | 12 | 14484 | m.14484T\>C | T14484C\-F12 | USA | LHON | 0 | 0 | 1993 | [8470982](https://pubmed.ncbi.nlm.nih.gov/8470982/) | | | 13 | 14484 | m.14484T\>C | T14484C\-F13 | USA | LHON | 0 | 0 | 1993 | [8470982](https://pubmed.ncbi.nlm.nih.gov/8470982/) | | | 14 | 14484 | m.14484T\>C | T14484C\-F14 | USA | LHON | 0 | 0 | 1993 | [8470982](https://pubmed.ncbi.nlm.nih.gov/8470982/) | | | 15 | 14484 | m.14484T\>C | T14484C\-F15 | USA | LHON | 0 | 0 | 1993 | [8470982](https://pubmed.ncbi.nlm.nih.gov/8470982/) | | | 16 | 14484 | m.14484T\>C | T14484C\-F16 | USA | LHON | 0 | 0 | 1993 | [8470982](https://pubmed.ncbi.nlm.nih.gov/8470982/) | | | 17 | 14484 | m.14484T\>C | T14484C\-F17 | USA | LHON | 0 | 0 | 1993 | [8470982](https://pubmed.ncbi.nlm.nih.gov/8470982/) | | | 18 | 14484 | m.14484T\>C | T14484C\-F18 | USA | LHON | 0 | 0 | 1993 | [8470982](https://pubmed.ncbi.nlm.nih.gov/8470982/) | | | 19 | 14484 | m.14484T\>C | T14484C\-F19 | USA | LHON | 0 | 0 | 1993 | [8470982](https://pubmed.ncbi.nlm.nih.gov/8470982/) | | | 20 | 14484 | m.14484T\>C | T14484C\-F20 | USA | LHON | 0 | 0 | 1993 | [8470982](https://pubmed.ncbi.nlm.nih.gov/8470982/) | | | 21 | 14484 | m.14484T\>C | T14484C\-F21 | USA | LHON | 0 | 1 | 1993 | [8470982](https://pubmed.ncbi.nlm.nih.gov/8470982/) | | | 22 | 14484 | m.14484T\>C | T14484C\-F22 | USA | LHON | 0 | 0 | 1993 | [8470982](https://pubmed.ncbi.nlm.nih.gov/8470982/) | | | 23 | 14484 | m.14484T\>C | T14484C\-F23 | USA | LHON | 0 | 0 | 1993 | [8470982](https://pubmed.ncbi.nlm.nih.gov/8470982/) | | | 24 | 14484 | m.14484T\>C | T14484C\-F24 | USA | LHON | 0 | 0 | 1993 | [8470982](https://pubmed.ncbi.nlm.nih.gov/8470982/) | | | 25 | 14484 | m.14484T\>C | T14484C\-F25 | USA | LHON | 0 | 0 | 1993 | [8470982](https://pubmed.ncbi.nlm.nih.gov/8470982/) | | | 26 | 14484 | m.14484T\>C | T14484C\-F26 | USA | LHON | 0 | 1 | 1993 | [8470982](https://pubmed.ncbi.nlm.nih.gov/8470982/) | | | 27 | 14484 | m.14484T\>C | T14484C\-F27 | USA | LHON | 0 | 0 | 1993 | [8470982](https://pubmed.ncbi.nlm.nih.gov/8470982/) | | | 28 | 14484 | m.14484T\>C | T14484C\-F28 | USA | LHON | 0 | 0 | 1993 | [8470982](https://pubmed.ncbi.nlm.nih.gov/8470982/) | | | 29 | 14484 | m.14484T\>C | T14484C\-F29 | Tunisia | LHON | 0 | 4 | 1996 | [8659531](https://pubmed.ncbi.nlm.nih.gov/8659531/) | | | 30 | 14484 | m.14484T\>C | T14484C\-F30 | USA | Leber hereditary optic neuropathy | 0 | 0 | 1995 | [8680405](https://pubmed.ncbi.nlm.nih.gov/8680405/) | | | 31 | 14484 | m.14484T\>C | T14484C\-F31 | USA | Leber hereditary optic neuropathy | 0 | 0 | 1995 | [8680405](https://pubmed.ncbi.nlm.nih.gov/8680405/) | | | 32 | 14484 | m.14484T\>C | T14484C\-F32 | USA | Leber hereditary optic neuropathy | 0 | 0 | 1995 | [8680405](https://pubmed.ncbi.nlm.nih.gov/8680405/) | | | 33 | 14484 | m.14484T\>C | T14484C\-F33 | USA | Leber hereditary optic neuropathy | 0 | 0 | 1995 | [8680405](https://pubmed.ncbi.nlm.nih.gov/8680405/) | | | 34 | 14484 | m.14484T\>C | T14484C\-F34 | USA | Leber hereditary optic neuropathy | 0 | 0 | 1995 | [8680405](https://pubmed.ncbi.nlm.nih.gov/8680405/) | | | 35 | 14484 | m.14484T\>C | T14484C\-F35 | USA | Leber hereditary optic neuropathy | 0 | 0 | 1995 | [8680405](https://pubmed.ncbi.nlm.nih.gov/8680405/) | | | 36 | 14484 | m.14484T\>C | T14484C\-F36 | USA | Leber hereditary optic neuropathy | 0 | 0 | 1995 | [8680405](https://pubmed.ncbi.nlm.nih.gov/8680405/) | | | 37 | 14484 | m.14484T\>C | T14484C\-F37 | USA | Leber hereditary optic neuropathy | 0 | 0 | 1995 | [8680405](https://pubmed.ncbi.nlm.nih.gov/8680405/) | | | 38 | 14484 | m.14484T\>C | [T14484C\-F38](https://mitofam.com/doc/2135/) | Italy | LHON | 1 | 0 | 1997 | [9339703](https://pubmed.ncbi.nlm.nih.gov/9339703/) | | | 39 | 14484 | m.14484T\>C | T14484C\-F39 | Tunisia | LHON | 2 | 2 | 1999 | [10072046](https://pubmed.ncbi.nlm.nih.gov/10072046/) | | | 40 | 14484 | m.14484T\>C | [T14484C\-F40](https://mitofam.com/doc/2136/) | Italy | LHON | 2 | 2 | 1999 | [10072046](https://pubmed.ncbi.nlm.nih.gov/10072046/) | | | 41 | 14484 | m.14484T\>C | [T14484C\-F41](https://mitofam.com/doc/2137/) | Italy | LHON | 4 | 0 | 1999 | [10072046](https://pubmed.ncbi.nlm.nih.gov/10072046/) | | | 42 | 14484 | m.14484T\>C | T14484C\-F42 | Japan | LHON | 0 | 0 | 1999 | [10520236](https://pubmed.ncbi.nlm.nih.gov/10520236/) | | | 43 | 14484 | m.14484T\>C | T14484C\-F43 | Japan | LHON | 0 | 0 | 1999 | [10520236](https://pubmed.ncbi.nlm.nih.gov/10520236/) | | | 44 | 14484 | m.14484T\>C | T14484C\-F44 | Japan | LHON | 0 | 0 | 2000 | [11001192](https://pubmed.ncbi.nlm.nih.gov/11001192/) | | | 45 | 14484 | m.14484T\>C | T14484C\-F45 | Japan | LHON | 0 | 0 | 2000 | [11001192](https://pubmed.ncbi.nlm.nih.gov/11001192/) | | | 46 | 14484 | m.14484T\>C | T14484C\-F46 | Japan | LHON | 0 | 0 | 2000 | [11001192](https://pubmed.ncbi.nlm.nih.gov/11001192/) | | | 47 | 14484 | m.14484T\>C | T14484C\-F47 | Turkey | LHON | 0 | 0 | 2001 | [11339587](https://pubmed.ncbi.nlm.nih.gov/11339587/) | | | 48 | 14484 | m.14484T\>C | T14484C\-F48 | Turkey | LHON | 0 | 0 | 2001 | [11339587](https://pubmed.ncbi.nlm.nih.gov/11339587/) | | | 49 | 14484 | m.14484T\>C | T14484C\-F49 | Turkey | LHON | 0 | 0 | 2001 | [11339587](https://pubmed.ncbi.nlm.nih.gov/11339587/) | | | 50 | 14484 | m.14484T\>C | T14484C\-F50 | United States | LHON | 0 | 0 | 2001 | [11450909](https://pubmed.ncbi.nlm.nih.gov/11450909/) | | | 51 | 14484 | m.14484T\>C | T14484C\-F51 | USA | LHON | 1 | 0 | 2001 | [11754070](https://pubmed.ncbi.nlm.nih.gov/11754070/) | | | 52 | 14484 | m.14484T\>C | T14484C\-F52 | France | LHON with Leigh\-like encephalopathy | ND | ND | 2002 | [12205655](https://pubmed.ncbi.nlm.nih.gov/12205655/) | | | 53 | 14484 | m.14484T\>C | [T14484C\-F53 ](https://mitofam.com/doc/2138/)| USA | LHON plus fatal infantile encephalopathy | 2 | 8 | 2003 | [12464729](https://pubmed.ncbi.nlm.nih.gov/12464729/) | | | 54 | 14484 | m.14484T\>C | T14484C\-F54 | Australia | LHON | 1 | 0 | 2003 | [12464729](https://pubmed.ncbi.nlm.nih.gov/12464729/) | | | 55 | 14484 | m.14484T\>C | [T14484C\-F55](https://mitofam.com/doc/2139/) | Australia | Leber hereditary optic neuropathy with HIV antiretroviral trigger | ND | ND | 2003 | [12724691](https://pubmed.ncbi.nlm.nih.gov/12724691/) | | | 56 | 14484 | m.14484T\>C | T14484C\-F56 | Australia | LHON mild optic neuropathy | 0 | 0 | 2003 | [12749053](https://pubmed.ncbi.nlm.nih.gov/12749053/) | | | 57 | 14484 | m.14484T\>C | T14484C\-F57 | Hungary | LHON with MS\-like white matter disease | 0 | 0 | 2005 | [15483043](https://pubmed.ncbi.nlm.nih.gov/15483043/) | | | 58 | 14484 | m.14484T\>C | [T14484C\-F58](https://mitofam.com/doc/2140/) | Russia | LHON | 0 | 5 | 2005 | [16050984](https://pubmed.ncbi.nlm.nih.gov/16050984/) | | | 59 | 14484 | m.14484T\>C | T14484C\-F59 | China | Leber hereditary optic neuropathy | 8 | 11 | 2006 | [16806060](https://pubmed.ncbi.nlm.nih.gov/16806060/) | | | 60 | 14484 | m.14484T\>C | T14484C\-F60 | China | Leber hereditary optic neuropathy | 13 | 12 | 2006 | [16806060](https://pubmed.ncbi.nlm.nih.gov/16806060/) | | | 61 | 14484 | m.14484T\>C | T14484C\-F61 | China | Leber hereditary optic neuropathy | 11 | 3 | 2006 | [16806060](https://pubmed.ncbi.nlm.nih.gov/16806060/) | | | 62 | 14484 | m.14484T\>C | T14484C\-F62 | Finland | LHON | 0 | 0 | 2007 | [17406640](https://pubmed.ncbi.nlm.nih.gov/17406640/) | | | 63 | 14484 | m.14484T\>C | [T14484C\-F63](https://mitofam.com/doc/2141/) | China | Leber hereditary optic neuropathy and hearing loss | 7 | 3 | 2007 | [17452034](https://pubmed.ncbi.nlm.nih.gov/17452034/) | | | 64 | 14484 | m.14484T\>C | T14484C\-F64 | Germany | LHON; atypical optic atrophy | 0 | 0 | 2007 | [17899121](https://pubmed.ncbi.nlm.nih.gov/17899121/) | | | 65 | 14484 | m.14484T\>C | T14484C\-F65 | United Kingdom | Harding syndrome | 0 | 1 | 2008 | [18344382](https://pubmed.ncbi.nlm.nih.gov/18344382/) | | | 66 | 14484 | m.14484T\>C | T14484C\-F66 | Spain | LHON | 0 | 0 | 2008 | [18402672](https://pubmed.ncbi.nlm.nih.gov/18402672/) | | | 67 | 14484 | m.14484T\>C | T14484C\-F67 | Spain | LHON | 0 | 0 | 2008 | [18402672](https://pubmed.ncbi.nlm.nih.gov/18402672/) | | | 68 | 14484 | m.14484T\>C | [T14484C\-F68](https://mitofam.com/doc/2142/) | China | Leber hereditary optic neuropathy | 0 | 8 | 2008 | [18440284](https://pubmed.ncbi.nlm.nih.gov/18440284/) | | | 69 | 14484 | m.14484T\>C | T14484C\-F69 | United States | LHON | 0 | 0 | 2009 | [19370763](https://pubmed.ncbi.nlm.nih.gov/19370763/) | | | 70 | 14484 | m.14484T\>C | [T14484C\-F70](https://mitofam.com/doc/2143/) | China | LHON | 0 | 17 | 2009 | [19394449](https://pubmed.ncbi.nlm.nih.gov/19394449/) | | | 71 | 14484 | m.14484T\>C | T14484C\-F71 | China | LHON | 16 | 0 | 2010 | [19733221](https://pubmed.ncbi.nlm.nih.gov/19733221/) | | | 72 | 14484 | m.14484T\>C | T14484C\-F72 | China | LHON | 12 | 0 | 2010 | [19733221](https://pubmed.ncbi.nlm.nih.gov/19733221/) | | | 73 | 14484 | m.14484T\>C | T14484C\-F73 | China | LHON | 8 | 0 | 2010 | [19733221](https://pubmed.ncbi.nlm.nih.gov/19733221/) | | | 74 | 14484 | m.14484T\>C | T14484C\-F74 | China | LHON | 5 | 0 | 2010 | [19733221](https://pubmed.ncbi.nlm.nih.gov/19733221/) | | | 75 | 14484 | m.14484T\>C | T14484C\-F75 | China | LHON | 6 | 0 | 2010 | [19733221](https://pubmed.ncbi.nlm.nih.gov/19733221/) | | | 76 | 14484 | m.14484T\>C | T14484C\-F76 | China | LHON | 12 | 0 | 2010 | [19733221](https://pubmed.ncbi.nlm.nih.gov/19733221/) | | | 77 | 14484 | m.14484T\>C | T14484C\-F77 | China | LHON | 10 | 0 | 2010 | [19733221](https://pubmed.ncbi.nlm.nih.gov/19733221/) | | | 78 | 14484 | m.14484T\>C | T14484C\-F78 | China | LHON | 5 | 0 | 2010 | [19733221](https://pubmed.ncbi.nlm.nih.gov/19733221/) | | | 79 | 14484 | m.14484T\>C | T14484C\-F79 | China | LHON | 11 | 0 | 2010 | [19733221](https://pubmed.ncbi.nlm.nih.gov/19733221/) | | | 80 | 14484 | m.14484T\>C | T14484C\-F80 | China | LHON | 20 | 0 | 2010 | [19733221](https://pubmed.ncbi.nlm.nih.gov/19733221/) | | | 81 | 14484 | m.14484T\>C | T14484C\-F81 | China | LHON | 7 | 2 | 2010 | [20599858](https://pubmed.ncbi.nlm.nih.gov/20599858/) | Source pedigree Le671 | | 82 | 14484 | m.14484T\>C | T14484C\-F82 | China | LHON | 4 | 0 | 2010 | [20599858](https://pubmed.ncbi.nlm.nih.gov/20599858/) | Source pedigree Le1123 | | 83 | 14484 | m.14484T\>C | T14484C\-F83 | Italy | LHON with MS\-like phenotype | 0 | 0 | 2011 | [21685233](https://pubmed.ncbi.nlm.nih.gov/21685233/) | | | 84 | 14484 | m.14484T\>C | T14484C\-F84 | Brazil | LHON | 0 | 0 | 2011 | [22194643](https://pubmed.ncbi.nlm.nih.gov/22194643/) | | | 85 | 14484 | m.14484T\>C | T14484C\-F85 | Brazil | LHON | 0 | 0 | 2011 | [22194643](https://pubmed.ncbi.nlm.nih.gov/22194643/) | | | 86 | 14484 | m.14484T\>C | T14484C\-F86 | United States | LHON | 0 | 3 | 2012 | [22410442](https://pubmed.ncbi.nlm.nih.gov/22410442/) | | | 87 | 14484 | m.14484T\>C | [T14484C\-F87](https://mitofam.com/doc/2144/) | China | Maternally inherited essential hypertension | 8 | 8 | 2012 | [22749828](https://pubmed.ncbi.nlm.nih.gov/22749828/) | | | 88 | 14484 | m.14484T\>C | T14484C\-F88 | China | Leber hereditary optic neuropathy | 7 | 3 | 2013 | [23665487](https://pubmed.ncbi.nlm.nih.gov/23665487/) | | | 89 | 14484 | m.14484T\>C | T14484C\-F89 | China | Leber hereditary optic neuropathy | 13 | 2 | 2013 | [23665487](https://pubmed.ncbi.nlm.nih.gov/23665487/) | | | 90 | 14484 | m.14484T\>C | T14484C\-F90 | China | Leber hereditary optic neuropathy | 17 | 0 | 2013 | [23665487](https://pubmed.ncbi.nlm.nih.gov/23665487/) | | | 91 | 14484 | m.14484T\>C | T14484C\-F91 | China | Leber hereditary optic neuropathy | 7 | 5 | 2013 | [23665487](https://pubmed.ncbi.nlm.nih.gov/23665487/) | Carrying T3394C; source pedigree WZ53 | | 92 | 14484 | m.14484T\>C | T14484C\-F92 | China | Leber hereditary optic neuropathy | 8 | 9 | 2013 | [23665487](https://pubmed.ncbi.nlm.nih.gov/23665487/) | Carrying T3394C; source pedigree WZ54 | | 93 | 14484 | m.14484T\>C | T14484C\-F93 | China | Leber hereditary optic neuropathy | 10 | 2 | 2013 | [23665487](https://pubmed.ncbi.nlm.nih.gov/23665487/) | | | 94 | 14484 | m.14484T\>C | T14484C\-F94 | China | Leber hereditary optic neuropathy | 10 | 0 | 2013 | [23665487](https://pubmed.ncbi.nlm.nih.gov/23665487/) | | | 95 | 14484 | m.14484T\>C | T14484C\-F95 | China | Leber hereditary optic neuropathy | 17 | 1 | 2013 | [23665487](https://pubmed.ncbi.nlm.nih.gov/23665487/) | | | 96 | 14484 | m.14484T\>C | T14484C\-F96 | China | Leber hereditary optic neuropathy | 14 | 0 | 2013 | [23665487](https://pubmed.ncbi.nlm.nih.gov/23665487/) | | | 97 | 14484 | m.14484T\>C | T14484C\-F97 | China | Leber hereditary optic neuropathy | 5 | 0 | 2013 | [23665487](https://pubmed.ncbi.nlm.nih.gov/23665487/) | | | 98 | 14484 | m.14484T\>C | T14484C\-F98 | China | Leber hereditary optic neuropathy | 20 | 1 | 2013 | [23665487](https://pubmed.ncbi.nlm.nih.gov/23665487/) | | | 99 | 14484 | m.14484T\>C | T14484C\-F99 | China | Leber hereditary optic neuropathy | 7 | 2 | 2013 | [23665487](https://pubmed.ncbi.nlm.nih.gov/23665487/) | | | 100 | 14484 | m.14484T\>C | T14484C\-F100 | China | Leber hereditary optic neuropathy | 7 | 1 | 2013 | [23665487](https://pubmed.ncbi.nlm.nih.gov/23665487/) | | | 101 | 14484 | m.14484T\>C | T14484C\-F101 | China | Leber hereditary optic neuropathy | 18 | 2 | 2013 | [23665487](https://pubmed.ncbi.nlm.nih.gov/23665487/) | | | 102 | 14484 | m.14484T\>C | T14484C\-F102 | China | Leber hereditary optic neuropathy | 11 | 1 | 2013 | [23665487](https://pubmed.ncbi.nlm.nih.gov/23665487/) | | | 103 | 14484 | m.14484T\>C | T14484C\-F103 | China | Leber hereditary optic neuropathy | 9 | 1 | 2013 | [23665487](https://pubmed.ncbi.nlm.nih.gov/23665487/) | | | 104 | 14484 | m.14484T\>C | T14484C\-F104 | China | Leber hereditary optic neuropathy | 10 | 1 | 2013 | [23665487](https://pubmed.ncbi.nlm.nih.gov/23665487/) | | | 105 | 14484 | m.14484T\>C | T14484C\-F105 | China | Leber hereditary optic neuropathy | 12 | 3 | 2013 | [23665487](https://pubmed.ncbi.nlm.nih.gov/23665487/) | | | 106 | 14484 | m.14484T\>C | T14484C\-F106 | China | Leber hereditary optic neuropathy | 10 | 0 | 2013 | [23665487](https://pubmed.ncbi.nlm.nih.gov/23665487/) | | | 107 | 14484 | m.14484T\>C | T14484C\-F107 | China | Leber hereditary optic neuropathy | 5 | 0 | 2013 | [23665487](https://pubmed.ncbi.nlm.nih.gov/23665487/) | | | 108 | 14484 | m.14484T\>C | T14484C\-F108 | China | Leber hereditary optic neuropathy | 5 | 1 | 2013 | [23665487](https://pubmed.ncbi.nlm.nih.gov/23665487/) | | | 109 | 14484 | m.14484T\>C | T14484C\-F109 | China | Leber hereditary optic neuropathy | 10 | 1 | 2013 | [23665487](https://pubmed.ncbi.nlm.nih.gov/23665487/) | | | 110 | 14484 | m.14484T\>C | T14484C\-F110 | China | Leber hereditary optic neuropathy | 5 | 3 | 2013 | [23665487](https://pubmed.ncbi.nlm.nih.gov/23665487/) | | | 111 | 14484 | m.14484T\>C | T14484C\-F111 | China | Leber hereditary optic neuropathy | 5 | 1 | 2013 | [23665487](https://pubmed.ncbi.nlm.nih.gov/23665487/) | | | 112 | 14484 | m.14484T\>C | T14484C\-F112 | China | Leber hereditary optic neuropathy | 9 | 3 | 2013 | [23665487](https://pubmed.ncbi.nlm.nih.gov/23665487/) | | | 113 | 14484 | m.14484T\>C | T14484C\-F113 | China | Leber hereditary optic neuropathy | 0 | 1 | 2013 | [23665487](https://pubmed.ncbi.nlm.nih.gov/23665487/) | | | 114 | 14484 | m.14484T\>C | T14484C\-F114 | China | Leber hereditary optic neuropathy | 2 | 0 | 2013 | [23665487](https://pubmed.ncbi.nlm.nih.gov/23665487/) | | | 115 | 14484 | m.14484T\>C | T14484C\-F115 | China | Leber hereditary optic neuropathy | 1 | 0 | 2013 | [23665487](https://pubmed.ncbi.nlm.nih.gov/23665487/) | | | 116 | 14484 | m.14484T\>C | T14484C\-F116 | China | LHON | 0 | 0 | 2014 | [24398099](https://pubmed.ncbi.nlm.nih.gov/24398099/) | | | 117 | 14484 | m.14484T\>C | T14484C\-F117 | China | LHON | 0 | 0 | 2014 | [24398099](https://pubmed.ncbi.nlm.nih.gov/24398099/) | | | 118 | 14484 | m.14484T\>C | T14484C\-F118 | China | LHON | 0 | 0 | 2014 | [24398099](https://pubmed.ncbi.nlm.nih.gov/24398099/) | | | 119 | 14484 | m.14484T\>C | T14484C\-F119 | United Kingdom | LHON with MS\-like illness | 0 | 0 | 2015 | [25053773](https://pubmed.ncbi.nlm.nih.gov/25053773/) | | | 120 | 14484 | m.14484T\>C | T14484C\-F120 | United Kingdom | LHON with MS\-like illness | 0 | 0 | 2015 | [25053773](https://pubmed.ncbi.nlm.nih.gov/25053773/) | | | 121 | 14484 | m.14484T\>C | T14484C\-F121 | Australia | LHON plus | 0 | 0 | 2016 | [27127184](https://pubmed.ncbi.nlm.nih.gov/27127184/) | | | 122 | 14484 | m.14484T\>C | T14484C\-F122 | China | LHON | 6 | 3 | 2016 | [27177320](https://pubmed.ncbi.nlm.nih.gov/27177320/) | Carrying T3394C; source pedigree WZ1042 | | 123 | 14484 | m.14484T\>C | T14484C\-F123 | China | LHON | 12 | 6 | 2016 | [27177320](https://pubmed.ncbi.nlm.nih.gov/27177320/) | Carrying T3394C; source pedigree WZ1235 | | 124 | 14484 | m.14484T\>C | T14484C\-F124 | China | LHON | 5 | 2 | 2016 | [27177320](https://pubmed.ncbi.nlm.nih.gov/27177320/) | Carrying T3394C; source pedigree WZ371 | | 125 | 14484 | m.14484T\>C | T14484C\-F125 | China | LHON | 0 | 0 | 2016 | [27177320](https://pubmed.ncbi.nlm.nih.gov/27177320/) | | | 126 | 14484 | m.14484T\>C | T14484C\-F126 | China | LHON | 0 | 0 | 2016 | [27177320](https://pubmed.ncbi.nlm.nih.gov/27177320/) | | | 127 | 14484 | m.14484T\>C | [T14484C\-F127](https://mitofam.com/doc/2145/) | Germany | LHON | 0 | 2 | 2016 | [27721048](https://pubmed.ncbi.nlm.nih.gov/27721048/) | | | 128 | 14484 | m.14484T\>C | [T14484C\-F128](https://mitofam.com/doc/2146/) | Australia | Leber hereditary optic neuropathy | 0 | 1 | 2016 | [27741086](https://pubmed.ncbi.nlm.nih.gov/27741086/) | | | 129 | 14484 | m.14484T\>C | T14484C\-F129 | Poland | LHON plus mitochondrial dysfunction; ichthyosis with confetti | 2 | 0 | 2017 | [28944608](https://pubmed.ncbi.nlm.nih.gov/28944608/) | | | 130 | 14484 | m.14484T\>C | T14484C\-F130 | Australia | LHON\-plus / LETM | 0 | 0 | 2018 | [29249004](https://pubmed.ncbi.nlm.nih.gov/29249004/) | | | 131 | 14484 | m.14484T\>C | T14484C\-F131 | Belgium | Unexplained abnormal fatigue; LHON\-associated mtDNA mutation | 0 | 0 | 2018 | [29336589](https://pubmed.ncbi.nlm.nih.gov/29336589/) | | | 132 | 14484 | m.14484T\>C | T14484C\-F132 | France | LHON | 0 | 0 | 2018 | [29454364](https://pubmed.ncbi.nlm.nih.gov/29454364/) | | | 133 | 14484 | m.14484T\>C | T14484C\-F133 | China | LHON/hereditary optic atrophy | 1 | 0 | 2018 | [30201499](https://pubmed.ncbi.nlm.nih.gov/30201499/) | | | 134 | 14484 | m.14484T\>C | T14484C\-F134 | South Africa | Mitochondrial disease; fucosidosis | 0 | 0 | 2019 | [30872186](https://pubmed.ncbi.nlm.nih.gov/30872186/) | | | 135 | 14484 | m.14484T\>C | [T14484C\-F135](https://mitofam.com/doc/2147/) | India | LHON\-plus | 1 | 0 | 2019 | [31776719](https://pubmed.ncbi.nlm.nih.gov/31776719/) | | | 136 | 14484 | m.14484T\>C | T14484C\-F136 | Australia | LHON | 1 | 0 | 2020 | [32861874](https://pubmed.ncbi.nlm.nih.gov/32861874/) | | | 137 | 14484 | m.14484T\>C | T14484C\-F137 | Australia | LHON | 1 | 0 | 2020 | [32861874](https://pubmed.ncbi.nlm.nih.gov/32861874/) | | | 138 | 14484 | m.14484T\>C | [T14484C\-F138](https://mitofam.com/doc/2148/) | Serbia | LHON | 1 | 1 | 2020 | [33095398](https://pubmed.ncbi.nlm.nih.gov/33095398/) | | | 139 | 14484 | m.14484T\>C | T14484C\-F139 | United Kingdom | LHON plus | 0 | 0 | 2021 | [33360266](https://pubmed.ncbi.nlm.nih.gov/33360266/) | | | 140 | 14484 | m.14484T\>C | T14484C\-F140 | Brazil | LHON | 1 | 0 | 2021 | [33584522](https://pubmed.ncbi.nlm.nih.gov/33584522/) | | | 141 | 14484 | m.14484T\>C | T14484C\-F141 | Brazil | LHON | 0 | 0 | 2021 | [33584522](https://pubmed.ncbi.nlm.nih.gov/33584522/) | | | 142 | 14484 | m.14484T\>C | T14484C\-F142 | Brazil | LHON | 0 | 0 | 2021 | [33584522](https://pubmed.ncbi.nlm.nih.gov/33584522/) | | | 143 | 14484 | m.14484T\>C | T14484C\-F143 | Brazil | LHON | 0 | 1 | 2021 | [33584522](https://pubmed.ncbi.nlm.nih.gov/33584522/) | | | 144 | 14484 | m.14484T\>C | T14484C\-F144 | Canada | LHON | 0 | 0 | 2021 | [34415266](https://pubmed.ncbi.nlm.nih.gov/34415266/) | | | 145 | 14484 | m.14484T\>C | T14484C\-F145 | United Kingdom | Suspected mitochondrial disorder | ND | ND | 2021 | [34732400](https://pubmed.ncbi.nlm.nih.gov/34732400/) | | | 146 | 14484 | m.14484T\>C | T14484C\-F146 | China | LHON | 7 | 2 | 2022 | [35567411](https://pubmed.ncbi.nlm.nih.gov/35567411/) | WZ61 | | 147 | 14484 | m.14484T\>C | T14484C\-F147 | Saudi Arabia | Relapsing\-remitting multiple sclerosis | 0 | 0 | 2022 | [35773337](https://pubmed.ncbi.nlm.nih.gov/35773337/) | P2; carrying T10237C, T5442C and A13105G | | 148 | 14484 | m.14484T\>C | [T14484C\-F148](https://mitofam.com/doc/2149/) | Thailand | LHON | 7 | 0 | 2022 | [36051150](https://pubmed.ncbi.nlm.nih.gov/36051150/) | | | 149 | 14484 | m.14484T\>C | T14484C\-F149 | Sri Lanka | Leber hereditary optic neuropathy | 3 | 0 | 2023 | [36737829](https://pubmed.ncbi.nlm.nih.gov/36737829/) | | | 150 | 14484 | m.14484T\>C | T14484C\-F150 | Italy | LHON | 1 | 0 | 2023 | [37628761](https://pubmed.ncbi.nlm.nih.gov/37628761/) | | | 151 | 14484 | m.14484T\>C | T14484C\-F151 | China | LHON | 9 | 4 | 2024 | [39264244](https://pubmed.ncbi.nlm.nih.gov/39264244/) | | | 152 | 14484 | m.14484T\>C | T14484C\-F152 | China | LHON | 7 | 6 | 2024 | [39264244](https://pubmed.ncbi.nlm.nih.gov/39264244/) | | | 153 | 14484 | m.14484T\>C | T14484C\-F153 | China | LHON | 4 | 4 | 2024 | [39264244](https://pubmed.ncbi.nlm.nih.gov/39264244/) | | | 154 | 14484 | m.14484T\>C | T14484C\-F154 | United Kingdom | LHON | 0 | 0 | 1995 | [7823072](https://pubmed.ncbi.nlm.nih.gov/7823072/) | | | 155 | 14484 | m.14484T\>C | T14484C\-F155 | United Kingdom | LHON | 2 | 0 | 1995 | [8533781](https://pubmed.ncbi.nlm.nih.gov/8533781/) | | | 156 | 14484 | m.14484T\>C | T14484C\-F156 | Italy | LHON | 4 | 0 | 1997 | [9150158](https://pubmed.ncbi.nlm.nih.gov/9150158/) | Source family L34 | | 157 | 14484 | m.14484T\>C | T14484C\-F157 | Italy | LHON | 0 | 2 | 1997 | [9150158](https://pubmed.ncbi.nlm.nih.gov/9150158/) | Source family L35 | | 158 | 14484 | m.14484T\>C | T14484C\-F158 | United Kingdom | LHON | 0 | 0 | 2003 | [12807863](https://pubmed.ncbi.nlm.nih.gov/12807863/) | | | 159 | 14484 | m.14484T\>C | T14484C\-F159 | United Kingdom | LHON | 0 | 0 | 2003 | [12807863](https://pubmed.ncbi.nlm.nih.gov/12807863/) | | | 160 | 14484 | m.14484T\>C | T14484C\-F160 | United Kingdom | LHON | 0 | 0 | 2003 | [12807863](https://pubmed.ncbi.nlm.nih.gov/12807863/) | | | 161 | 14484 | m.14484T\>C | T14484C\-F161 | United Kingdom | LHON | 0 | 0 | 2003 | [12807863](https://pubmed.ncbi.nlm.nih.gov/12807863/) | | | 162 | 14484 | m.14484T\>C | T14484C\-F162 | United Kingdom | LHON | 0 | 0 | 2003 | [12807863](https://pubmed.ncbi.nlm.nih.gov/12807863/) | | | 163 | 14484 | m.14484T\>C | [T14484C\-F163](https://mitofam.com/doc/2150/) | Italy | Leber hereditary optic neuropathy | 17 | 2 | 2007 | [17334960](https://pubmed.ncbi.nlm.nih.gov/17334960/) | Fig. 1 pedigree | | 164 | 14484 | m.14484T\>C | T14484C\-F164 | United Kingdom | Leber hereditary optic neuropathy | 0 | 0 | 2008 | [18070226](https://pubmed.ncbi.nlm.nih.gov/18070226/) | | | 165 | 14484 | m.14484T\>C | T14484C\-F165 | United Kingdom | Leber hereditary optic neuropathy | 0 | 0 | 2008 | [18070226](https://pubmed.ncbi.nlm.nih.gov/18070226/) | | | 166 | 14484 | m.14484T\>C | T14484C\-F166 | China | LHON | 2 | 2 | 2010 | [20976138](https://pubmed.ncbi.nlm.nih.gov/20976138/) | Source pedigree Le182 | | 167 | 14484 | m.14484T\>C | T14484C\-F167 | China | LHON | 9 | 4 | 2010 | [20976138](https://pubmed.ncbi.nlm.nih.gov/20976138/) | Source pedigree Le338 | | 168 | 14484 | m.14484T\>C | T14484C\-F168 | China | LHON | 8 | 1 | 2010 | [20976138](https://pubmed.ncbi.nlm.nih.gov/20976138/) | Source pedigree Le616 | | 169 | 14484 | m.14484T\>C | T14484C\-F169 | China | LHON | 0 | 2 | 2010 | [20976138](https://pubmed.ncbi.nlm.nih.gov/20976138/) | Source pedigree Le700 | | 170 | 14484 | m.14484T\>C | T14484C\-F170 | China | LHON | 1 | 2 | 2010 | [20976138](https://pubmed.ncbi.nlm.nih.gov/20976138/) | Source pedigree Le708 | | 171 | 14484 | m.14484T\>C | T14484C\-F171 | China | LHON | 9 | 2 | 2010 | [20976138](https://pubmed.ncbi.nlm.nih.gov/20976138/) | Source pedigree Le789 | | 172 | 14484 | m.14484T\>C | T14484C\-F172 | China | LHON | 6 | 0 | 2010 | [20976138](https://pubmed.ncbi.nlm.nih.gov/20976138/) | Source pedigree Le865 | | 173 | 14484 | m.14484T\>C | T14484C\-F173 | China | LHON | 3 | 2 | 2010 | [20976138](https://pubmed.ncbi.nlm.nih.gov/20976138/) | Source pedigree Le868 | | 174 | 14484 | m.14484T\>C | T14484C\-F174 | China | LHON | 9 | 2 | 2010 | [20976138](https://pubmed.ncbi.nlm.nih.gov/20976138/) | Source pedigree Le1304 | | 175 | 14484 | m.14484T\>C | T14484C\-F175 | China | LHON | 10 | 1 | 2010 | [20976138](https://pubmed.ncbi.nlm.nih.gov/20976138/) | Source pedigree Le1187 | | 176 | 14484 | m.14484T\>C | T14484C\-F176 | China | LHON | 21 | 6 | 2010 | [20976138](https://pubmed.ncbi.nlm.nih.gov/20976138/) | Source pedigree Le1322 | | 177 | 14484 | m.14484T\>C | T14484C\-F177 | India | Leber hereditary optic neuropathy | 8 | 1 | 2013 | [23674761](https://pubmed.ncbi.nlm.nih.gov/23674761/) | Source pedigree P18 | | 178 | 14484 | m.14484T\>C | T14484C\-F178 | India | Leber hereditary optic neuropathy | 8 | 3 | 2013 | [23674761](https://pubmed.ncbi.nlm.nih.gov/23674761/) | Source pedigree P24 | | 179 | 14484 | m.14484T\>C | T14484C\-F179 | India | Leber hereditary optic neuropathy | 9 | 1 | 2013 | [23674761](https://pubmed.ncbi.nlm.nih.gov/23674761/) | Source pedigree P26 | | 180 | 14484 | m.14484T\>C | T14484C\-F180 | India | Leber hereditary optic neuropathy | 4 | 0 | 2013 | [23674761](https://pubmed.ncbi.nlm.nih.gov/23674761/) | Source pedigree P33 | | 181 | 14484 | m.14484T\>C | T14484C\-F181 | India | Leber hereditary optic neuropathy | 10 | 2 | 2013 | [23674761](https://pubmed.ncbi.nlm.nih.gov/23674761/) | Source pedigree P35 | | 182 | 14484 | m.14484T\>C | T14484C\-F182 | India | Leber hereditary optic neuropathy | 8 | 0 | 2013 | [23674761](https://pubmed.ncbi.nlm.nih.gov/23674761/) | Source pedigree P41 | | 183 | 14484 | m.14484T\>C | T14484C\-F183 | India | Leber hereditary optic neuropathy | 7 | 0 | 2013 | [23674761](https://pubmed.ncbi.nlm.nih.gov/23674761/) | Source pedigree P48 | | 184 | 14484 | m.14484T\>C | T14484C\-F184 | India | Leber hereditary optic neuropathy | 11 | 1 | 2013 | [23674761](https://pubmed.ncbi.nlm.nih.gov/23674761/) | Source pedigree P51 | | 185 | 14484 | m.14484T\>C | T14484C\-F185 | United Kingdom | Childhood\-onset LHON | 0 | 0 | 2017 | [28314831](https://pubmed.ncbi.nlm.nih.gov/28314831/) | | | 186 | 14484 | m.14484T\>C | T14484C\-F186 | United Kingdom | Childhood\-onset LHON | 0 | 0 | 2017 | [28314831](https://pubmed.ncbi.nlm.nih.gov/28314831/) | | | 187 | 14484 | m.14484T\>C | T14484C\-F187 | United Kingdom | Childhood\-onset LHON | 0 | 0 | 2017 | [28314831](https://pubmed.ncbi.nlm.nih.gov/28314831/) | | | 188 | 14484 | m.14484T\>C | T14484C\-F188 | United Kingdom | Childhood\-onset LHON | 0 | 4 | 2017 | [28314831](https://pubmed.ncbi.nlm.nih.gov/28314831/) | Same pedigree Patients 24\-27 | | 189 | 14484 | m.14484T\>C | T14484C\-F189 | India | Leber hereditary optic neuropathy | 0 | 0 | 2017 | [29133642](https://pubmed.ncbi.nlm.nih.gov/29133642/) | Carrying G11778A | | 190 | 14484 | m.14484T\>C | T14484C\-F190 | Austria | LHON | 0 | 0 | 2019 | [31482278](https://pubmed.ncbi.nlm.nih.gov/31482278/) | | | 191 | 14484 | m.14484T\>C | T14484C\-F191 | Austria | LHON | 0 | 0 | 2019 | [31482278](https://pubmed.ncbi.nlm.nih.gov/31482278/) | | | 192 | 14484 | m.14484T\>C | T14484C\-F192 | Austria | LHON | 0 | 0 | 2019 | [31482278](https://pubmed.ncbi.nlm.nih.gov/31482278/) | | | 193 | 14484 | m.14484T\>C | T14484C\-F193 | Austria | LHON | 0 | 0 | 2019 | [31482278](https://pubmed.ncbi.nlm.nih.gov/31482278/) | | | 194 | 14484 | m.14484T\>C | T14484C\-F194 | India | LHON | 0 | 0 | 2021 | [34573281](https://pubmed.ncbi.nlm.nih.gov/34573281/) | | | 195 | 14484 | m.14484T\>C | T14484C\-F195 | India | LHON | 0 | 0 | 2021 | [34573281](https://pubmed.ncbi.nlm.nih.gov/34573281/) | | | 196 | 14484 | m.14484T\>C | T14484C\-F196 | India | LHON | 0 | 0 | 2021 | [34573281](https://pubmed.ncbi.nlm.nih.gov/34573281/) | | | 197 | 14484 | m.14484T\>C | T14484C\-F197 | India | LHON | 0 | 0 | 2021 | [34573281](https://pubmed.ncbi.nlm.nih.gov/34573281/) | Carrying G2361A | | 198 | 14484 | m.14484T\>C | T14484C\-F198 | India | LHON | 0 | 0 | 2021 | [34573281](https://pubmed.ncbi.nlm.nih.gov/34573281/) | Carrying T921C | | 199 | 14484 | m.14484T\>C | T14484C\-F199 | United States | LHON | 0 | 0 | 2022 | [34915201](https://pubmed.ncbi.nlm.nih.gov/34915201/) | | | 200 | 14484 | m.14484T\>C | T14484C\-F200 | China | LHON | 11 | 3 | 2022 | [35623556](https://pubmed.ncbi.nlm.nih.gov/35623556/) | Carrying A644G; source pedigree XT250 | | 201 | 14484 | m.14484T\>C | T14484C\-F201 | China | LHON | 1 | 3 | 2022 | [35623556](https://pubmed.ncbi.nlm.nih.gov/35623556/) | Carrying T10010G; source pedigree WZ1062 | | 202 | 14484 | m.14484T\>C | T14484C\-F202 | China | LHON | 7 | 2 | 2022 | [35623556](https://pubmed.ncbi.nlm.nih.gov/35623556/) | Carrying A15951G; source pedigree WZ840 | # **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 | 14484 | m.14484T\>C | T14484C\-F1 | T14484C\-F1\-P1 | Fam | ND | ND | ND | ND | ND | Homo by 31/31 clones | / | / | / | ND | Original label Tas2sequencedmembersgroup3labelsnotreported | | 2 | 14484 | m.14484T\>C | T14484C\-F2 | T14484C\-F2\-VIC2 | Fam | F | ND | Y | ND | ND | 11/22 clones approx 50% | / | / | / | Optic neuropathy | | | 3 | 14484 | m.14484T\>C | T14484C\-F2 | T14484C\-F2\-VIC2 | Fam | F | ND | Y | ND | ND | 27/31 clones approx 87% | / | / | / | Affected with optic neuropathy by text | | | 4 | 14484 | m.14484T\>C | T14484C\-F2 | T14484C\-F2\-VIC2 | Fam | F | ND | N | ND | ND | 15/21 clones approx 71% | / | / | / | Healthy | | | 5 | 14484 | m.14484T\>C | T14484C\-F3 | T14484C\-F3\-IV1 | Fam | M | Y | Y | ND | 17 | / | / | / | DNA source not stated: Present; load not reported | LHON; painless progressive bilateral central vision loss; onset age 17 | Original label IV\-1 | | 6 | 14484 | m.14484T\>C | T14484C\-F4 | T14484C\-F4\-P1 | Uninf | M | Y | Y | A | 29 | / | / | / | / | LHON with sudden bilateral visual loss and later partial recovery | | | 7 | 14484 | m.14484T\>C | T14484C\-F5 | T14484C\-F5\-P1 | Fam | M | Y | Y | A | 17 | / | / | / | Positive (ND) | bilateral consecutive optic neuropathy; cecocentral scotoma; later improved to 20/25 | | | 8 | 14484 | m.14484T\>C | T14484C\-F5 | T14484C\-F5\-P2 | Fam | M | N | Y | A | 16 onset | / | / | / | Positive (ND) | similar visual loss at 16; legally blind within seven months; recovered to 20/20 | | | 9 | 14484 | m.14484T\>C | T14484C\-F6 | T14484C\-F6\-I2 | Fam | M | ND | Y | A | ND | 90% | / | / | / | LHON | | | 10 | 14484 | m.14484T\>C | T14484C\-F6 | T14484C\-F6\-I1 | Fam | F | ND | Y | A | ND | Homo | / | / | / | LHON | | | 11 | 14484 | m.14484T\>C | T14484C\-F6 | T14484C\-F6\-II1 | Fam | F | ND | Y | A | ND | Homo | / | / | / | LHON | | | 12 | 14484 | m.14484T\>C | T14484C\-F6 | T14484C\-F6\-II2 | Fam | M | N | Y | A | ND | / | / | / | / | LHON | | | 13 | 14484 | m.14484T\>C | T14484C\-F6 | T14484C\-F6\-II3 | Fam | M | N | N | A | ND | / | / | / | / | Healthy | | | 14 | 14484 | m.14484T\>C | T14484C\-F7 | T14484C\-F7\-II2 | Fam | M | Y | Y | A | ND | 70% | / | / | / | LHON | carrying G11778A | | 15 | 14484 | m.14484T\>C | T14484C\-F7 | T14484C\-F7\-I1 | Fam | F | N | N | A | ND | 30% | / | / | / | Healthy | carrying G11778A | | 16 | 14484 | m.14484T\>C | T14484C\-F8 | T14484C\-F8\-P1 | Uninf | M | Y | Y | A | 18 | / | / | / | Homo (ND) | LHON; bilateral visual loss with spontaneous visual recovery | | | 17 | 14484 | m.14484T\>C | T14484C\-F9 | T14484C\-F9\-II2 | Fam | F | ND | N | ND | ND | \<50% | / | / | / | Healthy | Original label II\-2; carrying T4216C and G13708A | | 18 | 14484 | m.14484T\>C | T14484C\-F9 | T14484C\-F9\-II3 | Fam | F | ND | N | ND | ND | Homo | / | / | / | Healthy | Original label II\-3; carrying T4216C and G13708A | | 19 | 14484 | m.14484T\>C | T14484C\-F9 | T14484C\-F9\-III1 | Fam | F | ND | N | ND | ND | \<50% | / | / | / | Healthy | Original label III\-1 | | 20 | 14484 | m.14484T\>C | T14484C\-F9 | T14484C\-F9\-III2 | Fam | F | ND | N | ND | ND | \<50% | / | / | / | Healthy | Original label III\-2 | | 21 | 14484 | m.14484T\>C | T14484C\-F9 | T14484C\-F9\-III4 | Fam | M | ND | Y | ND | ND | Homo | / | / | / | LHON | Original label III\-4 | | 22 | 14484 | m.14484T\>C | T14484C\-F9 | T14484C\-F9\-III5 | Fam | M | ND | Y | ND | ND | Homo | / | / | / | LHON | Original label III\-5 | | 23 | 14484 | m.14484T\>C | T14484C\-F9 | T14484C\-F9\-III6 | Fam | M | ND | Y | ND | ND | Homo | / | / | / | LHON | Original label III\-6 | | 24 | 14484 | m.14484T\>C | T14484C\-F9 | T14484C\-F9\-III7 | Fam | F | ND | N | ND | ND | \<50% | / | / | / | Healthy | Original label III\-7 | | 25 | 14484 | m.14484T\>C | T14484C\-F10 | T14484C\-F10\-P1 | Uninf | ND | Y | Y | ND | ND | Homo | / | / | / | LHON | Original label patient 351 | | 26 | 14484 | m.14484T\>C | T14484C\-F11 | T14484C\-F11\-P1 | Uninf | ND | Y | Y | ND | ND | Homo | / | / | / | LHON | Original label patient 398 | | 27 | 14484 | m.14484T\>C | T14484C\-F12 | T14484C\-F12\-P1 | Uninf | M | Y | Y | ND | 19 | Homo | / | / | / | LHON\_visual\_loss;no\_visual\_recovery | Original label P 901 | | 28 | 14484 | m.14484T\>C | T14484C\-F13 | T14484C\-F13\-P1 | Uninf | M | Y | Y | ND | 17 | Homo | / | / | / | LHON\_visual\_loss;visual\_recovery\_yes | Original label P 1001 | | 29 | 14484 | m.14484T\>C | T14484C\-F14 | T14484C\-F14\-P1 | Fam | F | Y | Y | ND | 39 | Homo | / | / | / | LHON\_visual\_loss;no\_visual\_recovery;diabetes\_tobacco\_alcohol | Original label P 1101 | | 30 | 14484 | m.14484T\>C | T14484C\-F15 | T14484C\-F15\-P1 | Fam | M | Y | Y | ND | 29 | Homo | / | / | / | LHON\_visual\_loss;no\_visual\_recovery;head\_trauma\_alcohol | Original label P 1201 | | 31 | 14484 | m.14484T\>C | T14484C\-F16 | T14484C\-F16\-P1 | Uninf | M | Y | Y | ND | 20 | Homo | / | / | / | LHON\_visual\_loss;visual\_recovery\_yes;head\_trauma\_diabetes | Original label P 1301 | | 32 | 14484 | m.14484T\>C | T14484C\-F17 | T14484C\-F17\-P1 | Uninf | M | Y | Y | ND | 27 | Homo | / | / | / | LHON\_visual\_loss;visual\_recovery\_yes;Crohn\_disease\_B12\_deficiency | Original label P 1401 | | 33 | 14484 | m.14484T\>C | T14484C\-F18 | T14484C\-F18\-P1 | Fam | M | Y | Y | ND | 53 | Homo | / | / | / | LHON\_visual\_loss;no\_visual\_recovery;tobacco\_alcohol | Original label P 1501 | | 34 | 14484 | m.14484T\>C | T14484C\-F19 | T14484C\-F19\-P1 | Fam | F | Y | Y | ND | 21 | Homo | / | / | / | LHON\_visual\_loss;no\_visual\_recovery | Original label P 1601 | | 35 | 14484 | m.14484T\>C | T14484C\-F20 | T14484C\-F20\-P1 | Fam | M | Y | Y | ND | 36 | Homo | / | / | / | LHON\_visual\_loss;no\_visual\_recovery;tobacco\_use | Original label P 1701 | | 36 | 14484 | m.14484T\>C | T14484C\-F21 | T14484C\-F21\-P1 | Fam | M | Y | Y | ND | 17 | Homo | / | / | / | LHON\_visual\_loss;no\_visual\_recovery | Original label P 101 | | 37 | 14484 | m.14484T\>C | T14484C\-F21 | T14484C\-F21\-P2 | Fam | F | N | Y | ND | 15 | / | / | / | / | LHON\_visual\_loss;no\_visual\_recovery;head\_trauma | Original label P 102 | | 38 | 14484 | m.14484T\>C | T14484C\-F22 | T14484C\-F22\-P1 | Fam | M | Y | Y | ND | 33 | Homo | / | / | / | LHON\_visual\_loss;visual\_recovery\_yes;diabetes\_tobacco\_alcohol | Original label P 201 | | 39 | 14484 | m.14484T\>C | T14484C\-F23 | T14484C\-F23\-P1 | Uninf | M | Y | Y | ND | 20 | Homo | / | / | / | LHON\_visual\_loss;no\_visual\_recovery | Original label P 301 | | 40 | 14484 | m.14484T\>C | T14484C\-F24 | T14484C\-F24\-P1 | Fam | F | Y | Y | ND | 45 | Homo | / | / | / | LHON\_visual\_loss;no\_visual\_recovery | Original label P 401 | | 41 | 14484 | m.14484T\>C | T14484C\-F25 | T14484C\-F25\-P1 | Fam | F | Y | Y | ND | 56 | Homo | / | / | / | LHON\_visual\_loss;no\_visual\_recovery;diabetes | Original label P 501 | | 42 | 14484 | m.14484T\>C | T14484C\-F26 | T14484C\-F26\-P1 | Fam | M | Y | Y | ND | 12 | Homo | / | / | / | LHON\_visual\_loss;visual\_recovery\_yes | Original label P 601 | | 43 | 14484 | m.14484T\>C | T14484C\-F26 | T14484C\-F26\-P2 | Fam | M | N | Y | ND | 18 | / | / | / | / | LHON\_visual\_loss;visual\_recovery\_yes;tobacco\_alcohol | Original label P 602 | | 44 | 14484 | m.14484T\>C | T14484C\-F27 | T14484C\-F27\-P1 | Uninf | M | Y | Y | ND | 17 | Homo | / | / | / | LHON\_visual\_loss;no\_visual\_recovery | Original label P 701 | | 45 | 14484 | m.14484T\>C | T14484C\-F28 | T14484C\-F28\-P1 | Fam | F | Y | Y | ND | 10 | Homo | / | / | / | LHON\_visual\_loss;visual\_recovery\_yes | Original label P 801 | | 46 | 14484 | m.14484T\>C | T14484C\-F29 | T14484C\-F29\-P1 | Fam | M | Y | Y | A | 25 | Homo | / | / | / | LHON; bilateral painless central vision loss; central scotoma; optic disc swelling; peripapillary microangiopathy | | | 47 | 14484 | m.14484T\>C | T14484C\-F30 | T14484C\-F30\-L2 | Uninf | ND | ND | Y | ND | ND | / | / | / | Homo (Lymphoblasts) | LHON; rapid painless bilateral central vision loss/optic atrophy after childhood reported for all patients | | | 48 | 14484 | m.14484T\>C | T14484C\-F31 | T14484C\-F31\-L4 | Uninf | ND | ND | Y | ND | ND | / | / | / | Homo (Lymphoblasts) | LHON; rapid painless bilateral central vision loss/optic atrophy after childhood reported for all patients | | | 49 | 14484 | m.14484T\>C | T14484C\-F32 | T14484C\-F32\-L5 | Uninf | ND | ND | Y | ND | ND | / | / | / | Homo (Lymphoblasts) | LHON; rapid painless bilateral central vision loss/optic atrophy after childhood reported for all patients | | | 50 | 14484 | m.14484T\>C | T14484C\-F33 | T14484C\-F33\-L8 | Uninf | ND | ND | Y | ND | ND | / | / | / | Homo (Lymphoblasts) | LHON; rapid painless bilateral central vision loss/optic atrophy after childhood reported for all patients | | | 51 | 14484 | m.14484T\>C | T14484C\-F34 | T14484C\-F34\-L10 | Uninf | ND | ND | Y | ND | ND | / | / | / | Homo (Lymphoblasts) | LHON; rapid painless bilateral central vision loss/optic atrophy after childhood reported for all patients | | | 52 | 14484 | m.14484T\>C | T14484C\-F35 | T14484C\-F35\-L11 | Uninf | ND | ND | Y | ND | ND | / | / | / | Homo (Lymphoblasts) | LHON; rapid painless bilateral central vision loss/optic atrophy after childhood reported for all patients | | | 53 | 14484 | m.14484T\>C | T14484C\-F36 | T14484C\-F36\-L39 | Uninf | ND | ND | Y | ND | ND | / | / | / | Homo (Lymphoblasts) | LHON; rapid painless bilateral central vision loss/optic atrophy after childhood reported for all patients | | | 54 | 14484 | m.14484T\>C | T14484C\-F37 | T14484C\-F37\-L41 | Uninf | ND | ND | Y | ND | ND | / | / | / | Homo (Lymphoblasts) | LHON; rapid painless bilateral central vision loss/optic atrophy after childhood reported for all patients | text separately states L41 also had np7444 | | 55 | 14484 | m.14484T\>C | T14484C\-F38 | T14484C\-F38\-II1 | De novo | M | Y | Y | A | 17 | buffy coat 88%; platelet 24% | / | / | / | LHON; bilateral optic neuropathy; count fingers vision; bilateral dense central scotomas; optic disk pallor | Original label II\-1 | | 56 | 14484 | m.14484T\>C | T14484C\-F38 | T14484C\-F38\-II2 | De novo | M | N | N | A | 17 | buffy coat 90%; platelet 83% | / | / | / | Healthy | Original label II\-2 | | 57 | 14484 | m.14484T\>C | T14484C\-F39 | T14484C\-F39\-II4 | Fam | M | Y | Y | A | 24 onset | Homo | / | / | Homo (Platelets) | acute bilateral nonsimultaneous visual loss with marked recovery | | | 58 | 14484 | m.14484T\>C | T14484C\-F40 | T14484C\-F40\-II1 | Fam | M | ND | Y | A | 16 onset | Homo | / | / | Homo (Platelets) | early\-onset visual impairment; relapsing\-remitting course; OD 2/50 OS 1/50 at follow\-up | | | 59 | 14484 | m.14484T\>C | T14484C\-F40 | T14484C\-F40\-II2 | Fam | M | ND | Y | A | 13 onset | Homo | / | / | Homo (Platelets) | early\-onset visual impairment; relapsing\-remitting course; OD 5/10 at follow\-up | | | 60 | 14484 | m.14484T\>C | T14484C\-F40 | T14484C\-F40\-II3 | Fam | M | ND | Y | A | 46 | Homo | / | / | Homo (Platelets) | milder optic atrophy; dyschromatopsia; visual field impairment | | | 61 | 14484 | m.14484T\>C | T14484C\-F41 | T14484C\-F41\-I2 | Fam | F | N | N | A | ND | Homo | / | / | Homo (Platelets) | Healthy | | | 62 | 14484 | m.14484T\>C | T14484C\-F41 | T14484C\-F41\-II1 | Fam | M | N | N | A | ND | Homo | / | / | Homo (Platelets) | Healthy | | | 63 | 14484 | m.14484T\>C | T14484C\-F41 | T14484C\-F41\-II2 | Fam | F | N | N | A | ND | Homo | / | / | Homo (Platelets) | Healthy | | | 64 | 14484 | m.14484T\>C | T14484C\-F41 | T14484C\-F41\-II3 | Fam | M | Y | Y | A | 24 | Homo | / | / | Homo (Platelets) | subacute bilateral visual loss from age 21; bilateral cecocentral scotomas | | | 65 | 14484 | m.14484T\>C | T14484C\-F41 | T14484C\-F41\-II4 | Fam | M | N | N | A | ND | Homo | / | / | Homo (Platelets) | Healthy | | | 66 | 14484 | m.14484T\>C | T14484C\-F42 | T14484C\-F42\-P1 | Uninf | M | Y | Y | ND | 20 onset | Positive; load NR | / | / | / | LHON; onset age 20; ultimate visual acuity OD 0\.2 OS 0\.1 | Original label P18 | | 67 | 14484 | m.14484T\>C | T14484C\-F43 | T14484C\-F43\-P1 | Uninf | M | Y | Y | ND | 20 onset | Positive; load NR | / | / | / | LHON; onset age 20; ultimate visual acuity OD 0\.1 OS 0\.09 | Original label P19 | | 68 | 14484 | m.14484T\>C | T14484C\-F44 | T14484C\-F44\-P1 | Uninf | ND | Y | Y | A | ND | / | / | / | / | LHON with visual recovery in treated group | Original label Case10 | | 69 | 14484 | m.14484T\>C | T14484C\-F45 | T14484C\-F45\-P1 | Uninf | M | Y | Y | A | 24 | / | / | / | / | LHON with visual recovery | Original label Case3 | | 70 | 14484 | m.14484T\>C | T14484C\-F46 | T14484C\-F46\-P1 | Uninf | M | Y | Y | A | 28 | / | / | / | / | LHON with visual recovery | Original label Case4 | | 71 | 14484 | m.14484T\>C | T14484C\-F47 | T14484C\-F47\-P1 | Uninf | F | Y | Y | ND | 42 onset | Positive; load NR | / | / | / | Simultaneous bilateral visual loss; optic atrophy; central scotoma | Original label P20 | | 72 | 14484 | m.14484T\>C | T14484C\-F48 | T14484C\-F48\-P1 | Uninf | M | Y | Y | ND | 18 onset | Positive; load NR | / | / | / | Sequential visual loss; hyperaemic optic discs; peripapillary microangiopathy; central scotoma | Original label P27 | | 73 | 14484 | m.14484T\>C | T14484C\-F49 | T14484C\-F49\-P1 | Uninf | M | Y | Y | ND | 15 onset | Positive; load NR | / | / | / | Simultaneous bilateral visual loss; optic atrophy; central scotoma | Original label P30 | | 74 | 14484 | m.14484T\>C | T14484C\-F50 | T14484C\-F50\-P1 | Uninf | M | Y | Y | D | 36 | / | / | / | / | Bilateral sequential optic neuropathy; AIDS; HAART/NRTI exposure; CMV complications | | | 75 | 14484 | m.14484T\>C | T14484C\-F51 | T14484C\-F51\-P1 | Fam | F | Y | Y | A | 9 | Homo | / | / | Homo (lymphoblast/cybrid) | LHON; bilateral optic atrophy; central scotomas; reduced visual acuity with recovery | Also has 11778A heteroplasmy: blood 94%, lymphoblast 86%, cybrid 87% | | 76 | 14484 | m.14484T\>C | T14484C\-F51 | T14484C\-F51\-P2 | Fam | F | N | N | A | ND | Homo | / | / | Homo (lymphoblast/cybrid) | Healthy | G11778A 31% (blood); G11778A \<5% (lymphoblast/cybrid) | | 77 | 14484 | m.14484T\>C | T14484C\-F52 | T14484C\-F52\-P1 | Fam | M | Y | Y | D | 33 | 70% | / | / | / | Bilateral visual failure from age 4; gaze palsy; tinnitus; spastic ataxia; brainstem/basal ganglia lesions; dysphagia; aspiration pneumonia; died | | | 78 | 14484 | m.14484T\>C | T14484C\-F53 | T14484C\-F53\-II4 | Fam | F | N | N | A | ND | Homo | / | / | G11778A 23% (ND) | Healthy | Original label II\-4; carrying m.11778G\>A | | 79 | 14484 | m.14484T\>C | T14484C\-F53 | T14484C\-F53\-III2 | Fam | ND | N | N | A | ND | Homo | / | / | G11778A 35% (ND) | Healthy | Original label III\-2 | | 80 | 14484 | m.14484T\>C | T14484C\-F53 | T14484C\-F53\-III4 | Fam | F | N | Y | A | 21 | Present; load NR | / | / | G11778A load NR | LHON | Original label III\-4 | | 81 | 14484 | m.14484T\>C | T14484C\-F53 | T14484C\-F53\-III5 | Fam | F | N | Y | A | 29 | Homo | / | / | G11778A 77% (ND) | LHON | Original label III\-5 | | 82 | 14484 | m.14484T\>C | T14484C\-F53 | T14484C\-F53\-III7 | Fam | ND | N | ND | ND | ND | Homo | / | / | G11778A ND; poor DNA | Clinical status not recoverable | Original label III\-7 | | 83 | 14484 | m.14484T\>C | T14484C\-F53 | T14484C\-F53\-III8 | Fam | M | N | Y | A | 24 | Homo | / | / | G11778A 42% (ND) | Affected male with LHON | Original label III\-8 | | 84 | 14484 | m.14484T\>C | T14484C\-F53 | T14484C\-F53\-IV2 | Fam | F | Y | Y | A | 23 | Homo | / | / | G11778A 71% (ND) | LHON | Original label IV\-2 | | 85 | 14484 | m.14484T\>C | T14484C\-F53 | T14484C\-F53\-IV6 | Fam | F | N | Y | D | 30 mo | / | / | / | T14484C Homo (paraffin brain); G11778A unresolved | Fatal infantile encephalopathy | Original label IV\-6 | | 86 | 14484 | m.14484T\>C | T14484C\-F53 | T14484C\-F53\-IV4 | Fam | M | N | Y | D | 16 mo | / | / | / | / | Fatal infantile encephalopathy | Original label IV\-4 | | 87 | 14484 | m.14484T\>C | T14484C\-F53 | T14484C\-F53\-IV5 | Fam | F | N | Y | D | 25 mo | / | / | / | / | Fatal infantile encephalopathy | Original label IV\-5 | | 88 | 14484 | m.14484T\>C | T14484C\-F53 | T14484C\-F53\-IV7 | Fam | F | N | Y | D | 9 mo | / | / | / | / | Fatal infantile encephalopathy | Original label IV\-7 | | 89 | 14484 | m.14484T\>C | T14484C\-F53 | T14484C\-F53\-IV8 | Fam | M | N | Y | D | 12 mo | / | / | / | / | Fatal infantile encephalopathy; death at 19 mo | Original label IV\-8 | | 90 | 14484 | m.14484T\>C | T14484C\-F54 | T14484C\-F54\-P1 | Fam | F | Y | Y | A | 44 | Homo | / | / | G11778A \~65% (ND) | Chronic optic neuropathy; sarcoidosis noted | | | 91 | 14484 | m.14484T\>C | T14484C\-F54 | T14484C\-F54\-P2 | Fam | F | N | N | A | ND | Homo | / | / | G11778A \~40% (ND) | Healthy | | | 92 | 14484 | m.14484T\>C | T14484C\-F55 | T14484C\-F55\-IX1 | Fam | M | Y | Y | A | 47y | / | / | / | / | Acute sequential central visual loss; central and centrocaecal scotomas; optic atrophy; HIV on nucleoside analogue therapy | Original label Case1 | | 93 | 14484 | m.14484T\>C | T14484C\-F55 | T14484C\-F55\-IX7 | Fam | M | Y | Y | D | 57y | / | / | / | / | Painless sequential bilateral visual loss; no light perception; optic atrophy; neurologic decline; elevated serum lactate; HIV on nucleoside analogue therapy | Original label Case2 | | 94 | 14484 | m.14484T\>C | T14484C\-F56 | T14484C\-F56\-IV8 | Fam | M | Y | Y | A | 54 | Homo | / | / | / | Mild atypical optic neuropathy; late\-onset visual loss; bilateral VEP slowing | Original label IV\-8 | | 95 | 14484 | m.14484T\>C | T14484C\-F57 | T14484C\-F57\-P1 | Uninf | F | Y | Y | D | 44 | / | / | / | Homo (ND) | Relapsing bilateral visual loss; Hashimoto thyroiditis; widespread demyelinating CNS white matter lesions; epileptic seizures; immobility; bronchopneumonia death | | | 96 | 14484 | m.14484T\>C | T14484C\-F58 | T14484C\-F58\-III1 | Fam | M | Y | Y | A | 35 | Homo | / | / | / | Rapid bilateral painless central vision loss with central scotomas; onset 18y; no recovery reported | Original label III1probandpatient3; A9016G 93% (ND); carrying T4216C, G13708A and G15257A | | 97 | 14484 | m.14484T\>C | T14484C\-F58 | T14484C\-F58\-II2 | Fam | F | N | Y | A | 56 | Homo | / | / | / | Bilateral central vision loss; onset 47y; no diabetes deafness or neuromuscular disorder family history except blindness | A9016G 93% (ND); carrying T4216C, G13708A and G15257A | | 98 | 14484 | m.14484T\>C | T14484C\-F59 | T14484C\-F59\-IV1 | Fam | F | Y | Y | ND | 16 | Homo | / | / | / | bilateral visual impairment; tinnitus; VA OD 0\.01 OS 0\.06; abnormal optic disks; centrocecal scotomata | Original label WZ13IV\-1 | | 99 | 14484 | m.14484T\>C | T14484C\-F60 | T14484C\-F60\-IV12 | Fam | M | Y | Y | ND | 11 | Homo | / | / | / | bilateral visual impairment; VA OD 0\.08 OS 0\.07; temporal optic disks pale; centrocecal scotomata | Original label WZ14IV\-12 | | 100 | 14484 | m.14484T\>C | T14484C\-F61 | T14484C\-F61\-IV3 | Fam | M | Y | Y | ND | 12 | Homo | / | / | / | bilateral visual impairment; VA OD 0\.1 OS 0\.05; abnormal optic disks; centrocecal scotomata; VEP delayed | Original label WZ15IV\-3 | | 101 | 14484 | m.14484T\>C | T14484C\-F62 | T14484C\-F62\-P1 | Uninf | M | Y | Y | ND | ND | Detected; heteroplasmy NR | / | / | / | LHON optic atrophy | | | 102 | 14484 | m.14484T\>C | T14484C\-F63 | T14484C\-F63\-II4 | Fam | F | N | N | A | 52 | Homo | / | / | / | Healthy | Original label II\-4; carrying A1555G (Homo) | | 103 | 14484 | m.14484T\>C | T14484C\-F63 | T14484C\-F63\-III3 | Fam | F | N | Y | A | 18 | Homo | / | / | / | Moderate bilateral visual impairment; onset age 15; visual acuity 0\.06/0\.06 | Original label III\-3; carrying A1555G (Homo) | | 104 | 14484 | m.14484T\>C | T14484C\-F63 | T14484C\-F63\-III4 | Fam | F | Y | Y | A | 14 | Homo | / | / | / | Moderate bilateral visual impairment; onset age 14; visual acuity 0\.1/0\.08; mild bilateral hearing impairment | Original label III\-4; carrying A1555G (Homo) | | 105 | 14484 | m.14484T\>C | T14484C\-F63 | T14484C\-F63\-III6 | Fam | M | N | Y | A | 11 | Homo | / | / | / | Moderate bilateral visual impairment; onset age 10; visual acuity 0\.07/0\.06 | Original label III\-6; carrying A1555G (Homo) | | 106 | 14484 | m.14484T\>C | T14484C\-F63 | T14484C\-F63\-III1 | Fam | M | N | N | A | 28 | / | / | / | / | Healthy | Original label III\-1 | | 107 | 14484 | m.14484T\>C | T14484C\-F63 | T14484C\-F63\-III2 | Fam | F | N | N | A | 24 | / | / | / | / | Healthy | Original label III\-2 | | 108 | 14484 | m.14484T\>C | T14484C\-F63 | T14484C\-F63\-III5 | Fam | M | N | Y | A | 13 | / | / | / | / | Moderate bilateral visual impairment; onset age 11; visual acuity 0\.06/0\.05 | Original label III\-5 | | 109 | 14484 | m.14484T\>C | T14484C\-F63 | T14484C\-F63\-III7 | Fam | M | N | N | A | 14 | / | / | / | / | Healthy | Original label III\-7 | | 110 | 14484 | m.14484T\>C | T14484C\-F64 | T14484C\-F64\-P1 | Fam | M | Y | Y | A | 42 y | Qual positive in lymphocyte mtDNA; load NR | / | / | / | Bilateral temporal optic atrophy; central/centrocecal scotomas; VA OD 0\.6 OS 0\.4; color vision defects | | | 111 | 14484 | m.14484T\>C | T14484C\-F65 | T14484C\-F65\-P1 | Fam | F | Y | Y | A | 32 | / | / | / | / | Sequential severe painless visual loss; T14484C\-positive LHON; relapsing\-remitting multiple sclerosis/demyelination | | | 112 | 14484 | m.14484T\>C | T14484C\-F66 | T14484C\-F66\-P1 | Uninf | ND | ND | Y | ND | ND | Homo | / | / | / | Clinical suspicion of Leber disease | Original label P11sample5699 | | 113 | 14484 | m.14484T\>C | T14484C\-F67 | T14484C\-F67\-P1 | Uninf | ND | ND | Y | ND | ND | Homo | / | / | / | Clinical suspicion of Leber disease | Original label P12sample5869 | | 114 | 14484 | m.14484T\>C | T14484C\-F68 | T14484C\-F68\-II1 | Fam | ND | N | Y | ND | 62 | Homo | / | / | / | LHON visual impairment; onset 18; VA OD 0\.04 OS 0\.06 | Original label II\-1 | | 115 | 14484 | m.14484T\>C | T14484C\-F68 | T14484C\-F68\-II2 | Fam | ND | N | Y | ND | 58 | Homo | / | / | / | LHON visual impairment; onset 17; VA OD 0\.04 OS 0\.04 | Original label II\-2 | | 116 | 14484 | m.14484T\>C | T14484C\-F68 | T14484C\-F68\-II3 | Fam | ND | N | Y | ND | 56 | Homo | / | / | / | LHON visual impairment; onset 16; VA OD 0\.08 OS 0\.06 | Original label II\-3 | | 117 | 14484 | m.14484T\>C | T14484C\-F68 | T14484C\-F68\-III2 | Fam | ND | N | Y | ND | 39 | Homo | / | / | / | LHON visual impairment; onset 17; VA OD 0\.12 OS 0\.12 | Original label III\-2 | | 118 | 14484 | m.14484T\>C | T14484C\-F68 | T14484C\-F68\-III3 | Fam | ND | N | Y | ND | 37 | Homo | / | / | / | LHON visual impairment; onset 17; VA OD 0\.1 OS 0\.12 | Original label III\-3 | | 119 | 14484 | m.14484T\>C | T14484C\-F68 | T14484C\-F68\-III4 | Fam | ND | N | Y | ND | 35 | Homo | / | / | / | LHON visual impairment; onset 17; VA OD 0\.1 OS 0\.1 | Original label III\-4 | | 120 | 14484 | m.14484T\>C | T14484C\-F68 | T14484C\-F68\-III5 | Fam | ND | N | Y | ND | 32 | Homo | / | / | / | LHON visual impairment; onset 16; VA OD 0\.08 OS 0\.08 | Original label III\-5 | | 121 | 14484 | m.14484T\>C | T14484C\-F68 | T14484C\-F68\-III6 | Fam | M | Y | Y | ND | 30 | Homo | / | / | / | LHON visual impairment; onset 18; VA OD 0\.1 OS 0\.1 | Original label III\-6 | | 122 | 14484 | m.14484T\>C | T14484C\-F68 | T14484C\-F68\-IV2 | Fam | ND | N | Y | ND | 21 | Homo | / | / | / | LHON visual impairment; onset 18; VA OD 0\.12 OS 0\.15 | Original label IV\-2 | | 123 | 14484 | m.14484T\>C | T14484C\-F69 | T14484C\-F69\-P1 | Uninf | ND | ND | Y | ND | ND | 100% | / | / | / | LHON | | | 124 | 14484 | m.14484T\>C | T14484C\-F70 | T14484C\-F70\-III1 | Fam | F | N | Y | A | 54 | Heteroplasmic; load NR | / | / | / | LHON; onset 20; VA OD 0\.6 OS 0\.8; current visual impairment normal | | | 125 | 14484 | m.14484T\>C | T14484C\-F70 | T14484C\-F70\-III3 | Fam | F | N | Y | A | 50 | Heteroplasmic; load NR | / | / | / | LHON; onset 17; VA OD 0\.6 OS 0\.6; current visual impairment normal | | | 126 | 14484 | m.14484T\>C | T14484C\-F70 | T14484C\-F70\-III5 | Fam | F | N | Y | A | 42 | Heteroplasmic; load NR | / | / | / | LHON; onset 15; VA OD 1\.0 OS 0\.6; paracentral scotomas; current visual impairment normal | | | 127 | 14484 | m.14484T\>C | T14484C\-F70 | T14484C\-F70\-III9 | Fam | F | N | Y | A | 36 | Heteroplasmic; load NR | / | / | / | LHON; onset 11; VA OD 0\.8 OS 0\.3; paracentral scotomas; current visual impairment normal/mild | | | 128 | 14484 | m.14484T\>C | T14484C\-F70 | T14484C\-F70\-IV1 | Fam | F | N | Y | A | 30 | Heteroplasmic; load NR | / | / | / | LHON; onset 10; VA OD 0\.8 OS 0\.8; current visual impairment normal | | | 129 | 14484 | m.14484T\>C | T14484C\-F70 | T14484C\-F70\-IV2 | Fam | F | N | Y | A | 27 | Heteroplasmic; load NR | / | / | / | LHON; onset 9; VA OD 0\.08 OS 0\.05; central scotomas; moderate visual impairment | | | 130 | 14484 | m.14484T\>C | T14484C\-F70 | T14484C\-F70\-IV4 | Fam | M | N | Y | A | 23 | Heteroplasmic; load NR | / | / | / | LHON; onset 10; VA OD 0\.3 OS 0\.3; mild visual impairment | | | 131 | 14484 | m.14484T\>C | T14484C\-F70 | T14484C\-F70\-IV5 | Fam | F | N | Y | A | 19 | Heteroplasmic; load NR | / | / | / | LHON; onset 10; corrected VA OD 1\.0 OS 1\.0; current visual impairment normal | | | 132 | 14484 | m.14484T\>C | T14484C\-F70 | T14484C\-F70\-IV8 | Fam | F | N | Y | A | 16 | Heteroplasmic; load NR | / | / | / | LHON; onset 10; VA OD 0\.04 OS 0\.04; central scotomas; severe visual impairment | | | 133 | 14484 | m.14484T\>C | T14484C\-F70 | T14484C\-F70\-IV10 | Fam | M | N | Y | A | 11 | Heteroplasmic; load NR | / | / | / | LHON; onset 9; VA OD 0\.1 OS 0\.3; mild visual impairment | | | 134 | 14484 | m.14484T\>C | T14484C\-F70 | T14484C\-F70\-IV11 | Fam | F | N | Y | A | 15 | Heteroplasmic; load NR | / | / | / | LHON; onset 9; VA OD 0\.6 OS 0\.6; current visual impairment normal | | | 135 | 14484 | m.14484T\>C | T14484C\-F70 | T14484C\-F70\-IV12 | Fam | M | Y | Y | A | 13 | Heteroplasmic; load NR | / | / | / | LHON; onset 8; corrected VA OD 0\.8 OS 0\.8; paracentral scotomas; current visual impairment normal | | | 136 | 14484 | m.14484T\>C | T14484C\-F71 | T14484C\-F71\-IV1 | Fam | F | Y | Y | ND | 27 | Homo | / | / | / | LHON; onset 25; OD 0\.05, OS 0\.04; severe visual impairment | Original label WZ18\-IV\-1 | | 137 | 14484 | m.14484T\>C | T14484C\-F72 | T14484C\-F72\-IV1 | Fam | M | Y | Y | ND | 25 | Homo | / | / | / | LHON; onset 24; OD 0\.05, OS 0\.05; moderate visual impairment | Original label WZ19\-IV\-1 | | 138 | 14484 | m.14484T\>C | T14484C\-F73 | T14484C\-F73\-III1 | Fam | M | Y | Y | ND | 10 | Homo | / | / | / | LHON; onset 6; OD 0\.3, OS 0\.4; mild visual impairment | Original label WZ20\-III\-1 | | 139 | 14484 | m.14484T\>C | T14484C\-F74 | T14484C\-F74\-III1 | Fam | M | Y | Y | ND | 17 | Homo | / | / | / | LHON; onset 17; OD 0\.12, OS 0\.02; severe visual impairment | Original label WZ21\-III\-1 | | 140 | 14484 | m.14484T\>C | T14484C\-F75 | T14484C\-F75\-III4 | Fam | M | Y | Y | ND | 13 | Homo | / | / | / | LHON; onset 13; OD 0\.1, OS 0\.1; mild visual impairment | Original label WZ22\-III\-4 | | 141 | 14484 | m.14484T\>C | T14484C\-F76 | T14484C\-F76\-III1 | Fam | M | Y | Y | ND | 19 | Homo | / | / | / | LHON; onset 19; OD 0\.04, OS 0\.04; moderate visual impairment | Original label WZ23\-III\-1 | | 142 | 14484 | m.14484T\>C | T14484C\-F77 | T14484C\-F77\-III2 | Fam | F | Y | Y | ND | 17 | Homo | / | / | / | LHON; onset 17; OD 0\.03, OS 0\.04; moderate visual impairment | Original label WZ24\-III\-2 | | 143 | 14484 | m.14484T\>C | T14484C\-F78 | T14484C\-F78\-III1 | Fam | M | Y | Y | ND | 20 | Homo | / | / | / | LHON; onset 20; OD 0\.1, OS 0\.4; mild visual impairment | Original label WZ25\-III\-1 | | 144 | 14484 | m.14484T\>C | T14484C\-F79 | T14484C\-F79\-III5 | Fam | M | Y | Y | ND | 18 | Homo | / | / | / | LHON; onset 18; OD 0\.05, OS 0\.05; moderate visual impairment | Original label WZ26\-III\-5 | | 145 | 14484 | m.14484T\>C | T14484C\-F80 | T14484C\-F80\-III3 | Fam | M | Y | Y | ND | 29 | Homo | / | / | / | LHON; onset 27; OD 0\.1, OS 0\.3; mild visual impairment | Original label WZ27\-III\-3 | | 146 | 14484 | m.14484T\>C | T14484C\-F81 | T14484C\-F81\-P1 | Fam | ND | ND | Y | ND | ND | Homo | / | / | / | Typical LHON | Original label Le671 | | 147 | 14484 | m.14484T\>C | T14484C\-F82 | T14484C\-F82\-P1 | Fam | ND | ND | Y | ND | ND | Homo | / | / | / | Typical LHON | Original label Le1123 | | 148 | 14484 | m.14484T\>C | T14484C\-F83 | T14484C\-F83\-P1 | Uninf | M | Y | Y | A | 35 | Homo | / | / | / | Progressive painless bilateral vision loss in adolescence; later paresthesia and weakness of legs and feet, gait disturbance, lower limb hypostenia and hypoesthesia, spinal cord demyelinating lesions | carrying G15257A (Heteroplasmic) | | 149 | 14484 | m.14484T\>C | T14484C\-F84 | T14484C\-F84\-P1 | Fam | M | Y | Y | ND | 47 | Homo | / | / | / | Bilateral optic neuropathy; OD 20/200 and OS 20/200; cecocentral scotomas; heavy alcohol and tobacco history | Original label P4 | | 150 | 14484 | m.14484T\>C | T14484C\-F85 | T14484C\-F85\-P1 | Fam | M | Y | Y | ND | 27 | Homo | / | / | / | Bilateral optic neuropathy; OD cf at 1m and OS cf at 1m; central scotomas; heavy alcohol and tobacco history | Original label P15 | | 151 | 14484 | m.14484T\>C | T14484C\-F86 | T14484C\-F86\-P1 | Fam | M | Y | Y | A | 8 | / | / | / | Homo (ND) | LHON; acute OD vision loss for 1 month; central scotoma; pre\-treatment VA OD 20/50 and OS 20/20; rapid recovery after EPI\-743 | Original label P 4 | | 152 | 14484 | m.14484T\>C | T14484C\-F87 | T14484C\-F87\-I2 | Fam | F | N | Y | D | 65 | Present; load NR | / | / | / | Essential hypertension; died of stroke | | | 153 | 14484 | m.14484T\>C | T14484C\-F87 | T14484C\-F87\-II1 | Fam | F | N | N | D | 30 | Present; load NR | / | / | / | Died in accident; no hypertension recorded | | | 154 | 14484 | m.14484T\>C | T14484C\-F87 | T14484C\-F87\-II2 | Fam | F | N | Y | D | 76 | Present; load NR | / | / | / | Essential hypertension onset 50; HCBPMR 180/90; stroke | | | 155 | 14484 | m.14484T\>C | T14484C\-F87 | T14484C\-F87\-II4 | Fam | F | N | Y | D | 64 | Present; load NR | / | / | / | Essential hypertension onset 48; HCBPMR 180/90; stroke | | | 156 | 14484 | m.14484T\>C | T14484C\-F87 | T14484C\-F87\-III1 | Fam | F | N | Y | D | 69 | Present; load NR | / | / | / | Essential hypertension onset 40; HCBPMR 180/110; acute myocardial infarction | | | 157 | 14484 | m.14484T\>C | T14484C\-F87 | T14484C\-F87\-III3 | Fam | M | N | Y | D | 70 | Present; load NR | / | / | / | Essential hypertension onset 40; HCBPMR 180/100; stroke | | | 158 | 14484 | m.14484T\>C | T14484C\-F87 | T14484C\-F87\-III5 | Fam | F | N | Y | A | 73 | Present; load NR | / | / | Mutant lymphoblastoid line | Essential hypertension onset 45; BPT 160/90; HCBPMR 170/90 | | | 159 | 14484 | m.14484T\>C | T14484C\-F87 | T14484C\-F87\-III7 | Fam | M | N | N | A | 69 | Present; load NR | / | / | / | BPT 105/64; HCBPMR 120/70 | | | 160 | 14484 | m.14484T\>C | T14484C\-F87 | T14484C\-F87\-III9 | Fam | F | N | N | D | 22 | Present; load NR | / | / | / | Died by drowning; no hypertension recorded | | | 161 | 14484 | m.14484T\>C | T14484C\-F87 | T14484C\-F87\-IV1 | Fam | F | Y | Y | A | 52 | Homo | / | / | Homo (H); Homo (saliva) | Essential hypertension onset 47; HCBPMR 170/110; retinopathy | | | 162 | 14484 | m.14484T\>C | T14484C\-F87 | T14484C\-F87\-IV3 | Fam | F | N | N | A | 50 | Present; load NR | / | / | / | BPT 96/60; HCBPMR 125/70; abnormal PWV | | | 163 | 14484 | m.14484T\>C | T14484C\-F87 | T14484C\-F87\-IV5 | Fam | M | N | Y | A | 47 | Present; load NR | / | / | / | Essential hypertension; BPT 145/90; HCBPMR 160/100 | | | 164 | 14484 | m.14484T\>C | T14484C\-F87 | T14484C\-F87\-IV9 | Fam | F | N | Y | A | 44 | Present; load NR | / | / | / | Essential hypertension; BPT 135/85; HCBPMR 156/100 | | | 165 | 14484 | m.14484T\>C | T14484C\-F87 | T14484C\-F87\-IV11 | Fam | M | N | N | A | 42 | Present; load NR | / | / | / | BPT 106/64; HCBPMR 120/68 | | | 166 | 14484 | m.14484T\>C | T14484C\-F87 | T14484C\-F87\-V1 | Fam | F | N | N | A | 27 | Present; load NR | / | / | Mutant cell line | Healthy | | | 167 | 14484 | m.14484T\>C | T14484C\-F87 | T14484C\-F87\-V2 | Fam | F | N | N | A | 19 | Present; load NR | / | / | / | BPT 100/60; HCBPMR 110/62 | | | 168 | 14484 | m.14484T\>C | T14484C\-F87 | T14484C\-F87\-V4 | Fam | F | N | N | A | 24 | Present; load NR | / | / | / | BPT 100/70; HCBPMR 115/75 | | | 169 | 14484 | m.14484T\>C | T14484C\-F88 | T14484C\-F88\-P1 | Fam | F | Y | Y | ND | 14 | Homo | / | / | / | LHON bilateral visual impairment; onset 14; VA R 0\.1 L 0\.08; Moderate | | | 170 | 14484 | m.14484T\>C | T14484C\-F89 | T14484C\-F89\-IV6 | Fam | M | Y | Y | ND | 17 | Homo | / | / | / | LHON bilateral visual impairment; onset 16; VA R 0\.02 L 0\.05; Severe | Original label WZ51\-IV\-6 | | 171 | 14484 | m.14484T\>C | T14484C\-F90 | T14484C\-F90\-IV3 | Fam | M | Y | Y | ND | 11 | Homo | / | / | / | LHON bilateral visual impairment; onset 11; VA R 0\.8 L 0\.25; Mild | Original label WZ52\-IV\-3 | | 172 | 14484 | m.14484T\>C | T14484C\-F91 | T14484C\-F91\-IV1 | Fam | M | Y | Y | ND | 18 | Homo | / | / | / | LHON bilateral visual impairment; onset 18; VA R 0\.1 L 0\.05; Moderate | Original label WZ53\-IV\-1 | | 173 | 14484 | m.14484T\>C | T14484C\-F92 | T14484C\-F92\-IV1 | Fam | M | Y | Y | ND | 21 | Homo | / | / | / | LHON bilateral visual impairment; onset 18; VA R 0\.1 L 0\.1; Mild | Original label WZ54\-IV\-1 | | 174 | 14484 | m.14484T\>C | T14484C\-F93 | T14484C\-F93\-IV3 | Fam | M | Y | Y | ND | 15 | Homo | / | / | / | LHON bilateral visual impairment; onset 15; VA R 0\.12 L 0\.06; Moderate | Original label WZ55\-IV\-3 | | 175 | 14484 | m.14484T\>C | T14484C\-F94 | T14484C\-F94\-IV3 | Fam | M | Y | Y | ND | 15 | Homo | / | / | / | LHON bilateral visual impairment; onset 13; VA R 0\.1 L 0\.1; Mild | Original label WZ56\-IV\-3 | | 176 | 14484 | m.14484T\>C | T14484C\-F95 | T14484C\-F95\-III1 | Fam | M | Y | Y | ND | 32 | Homo | / | / | / | LHON bilateral visual impairment; onset 22; VA R 0\.2 L 0\.2; Mild | Original label WZ57\-III\-1 | | 177 | 14484 | m.14484T\>C | T14484C\-F96 | T14484C\-F96\-III3 | Fam | M | Y | Y | ND | 44 | Homo | / | / | / | LHON bilateral visual impairment; onset 20; VA R 0\.1 L 0\.05; Moderate | Original label WZ58\-III\-3 | | 178 | 14484 | m.14484T\>C | T14484C\-F97 | T14484C\-F97\-IV1 | Fam | M | Y | Y | ND | 15 | Homo | / | / | / | LHON bilateral visual impairment; onset 14; VA R 0\.04 L 0\.02; Severe | Original label WZ59\-IV\-1 | | 179 | 14484 | m.14484T\>C | T14484C\-F98 | T14484C\-F98\-III16 | Fam | M | Y | Y | ND | 24 | Homo | / | / | / | LHON bilateral visual impairment; onset 24; VA R 0\.02 L CF/30 cm; Profound | Original label WZ60\-III\-16 | | 180 | 14484 | m.14484T\>C | T14484C\-F99 | T14484C\-F99\-IV1 | Fam | F | Y | Y | ND | 10 | Homo | / | / | / | LHON bilateral visual impairment; onset 10; VA R 0\.12 L 0\.12; Mild | Original label WZ61\-IV\-1 | | 181 | 14484 | m.14484T\>C | T14484C\-F100 | T14484C\-F100\-III3 | Fam | M | Y | Y | ND | 26 | Homo | / | / | / | LHON bilateral visual impairment; onset 26; VA R 0\.04 L 0\.02; Severe | Original label WZ62\-III\-3 | | 182 | 14484 | m.14484T\>C | T14484C\-F101 | T14484C\-F101\-V1 | Fam | M | Y | Y | ND | 15 | Homo | / | / | / | LHON bilateral visual impairment; onset 15; VA R 0\.1 L 0\.1; Mild | Original label WZ63\-V\-1 | | 183 | 14484 | m.14484T\>C | T14484C\-F102 | T14484C\-F102\-III2 | Fam | F | Y | Y | ND | 32 | Homo | / | / | / | LHON bilateral visual impairment; onset 19; VA R 0\.1 L 0\.1; Mild | Original label WZ64\-III\-2 | | 184 | 14484 | m.14484T\>C | T14484C\-F103 | T14484C\-F103\-III1 | Fam | M | Y | Y | ND | 28 | Homo | / | / | / | LHON bilateral visual impairment; onset 26; VA R 0\.06 L 0\.06; Moderate | Original label WZ65\-III\-1 | | 185 | 14484 | m.14484T\>C | T14484C\-F104 | T14484C\-F104\-II11 | Fam | M | Y | Y | ND | 33 | Homo | / | / | / | LHON bilateral visual impairment; onset 32; VA R 0\.02 L 0\.05; Severe | Original label WZ66\-II\-11 | | 186 | 14484 | m.14484T\>C | T14484C\-F105 | T14484C\-F105\-III10 | Fam | M | Y | Y | ND | 14 | Homo | / | / | / | LHON bilateral visual impairment; onset 14; VA R 0\.1 L 0\.1; Mild | Original label WZ67\-III\-10 | | 187 | 14484 | m.14484T\>C | T14484C\-F106 | T14484C\-F106\-III1 | Fam | M | Y | Y | ND | 14 | Homo | / | / | / | LHON bilateral visual impairment; onset 14; VA R 0\.9 L CF/2 m; Profound | Original label WZ68\-III\-1 | | 188 | 14484 | m.14484T\>C | T14484C\-F107 | T14484C\-F107\-II1 | Fam | M | Y | Y | ND | 41 | Homo | / | / | / | LHON bilateral visual impairment; onset 41; VA R 0\.15 L 0\.1; Mild | Original label WZ69\-II\-1 | | 189 | 14484 | m.14484T\>C | T14484C\-F108 | T14484C\-F108\-III1 | Fam | M | Y | Y | ND | 44 | Homo | / | / | / | LHON bilateral visual impairment; onset 44; VA R 0\.05 L 0\.04; Severe | Original label WZ70\-III\-1 | | 190 | 14484 | m.14484T\>C | T14484C\-F109 | T14484C\-F109\-III5 | Fam | M | Y | Y | ND | 19 | Homo | / | / | / | LHON bilateral visual impairment; onset 19; VA R 1\.0 L 0\.1; Mild | Original label WZ71\-III\-5 | | 191 | 14484 | m.14484T\>C | T14484C\-F110 | T14484C\-F110\-III2 | Fam | M | Y | Y | ND | 15 | Homo | / | / | / | LHON bilateral visual impairment; onset 15; VA R CF/50 cm L 0\.03; Profound | Original label WZ72\-III\-2 | | 192 | 14484 | m.14484T\>C | T14484C\-F111 | T14484C\-F111\-III1 | Fam | F | Y | Y | ND | 11 | Homo | / | / | / | LHON bilateral visual impairment; onset 11; VA R 0\.8 L 0\.2; Mild | Original label WZ73\-III\-1 | | 193 | 14484 | m.14484T\>C | T14484C\-F112 | T14484C\-F112\-III18 | Fam | M | Y | Y | ND | 30 | Homo | / | / | / | LHON bilateral visual impairment; onset 30; VA R 0\.1 L 0\.12; Mild | Original label WZ74\-III\-18 | | 194 | 14484 | m.14484T\>C | T14484C\-F113 | T14484C\-F113\-II1 | Fam | M | Y | Y | ND | 17 | Homo | / | / | / | LHON bilateral visual impairment; onset 16; VA R 0\.8 L 0\.03; Severe | Original label WZ75\-II\-1 | | 195 | 14484 | m.14484T\>C | T14484C\-F114 | T14484C\-F114\-II1 | Fam | M | Y | Y | ND | 15 | Homo | / | / | / | LHON bilateral visual impairment; onset 15; VA R 0\.05 L 0\.03; Severe | Original label WZ76\-II\-1 | | 196 | 14484 | m.14484T\>C | T14484C\-F115 | T14484C\-F115\-II1 | Fam | M | Y | Y | ND | 18 | Homo | / | / | / | LHON bilateral visual impairment; onset 17; VA R 1\.0 L 0\.3; Mild | Original label WZ77\-II\-1 | | 197 | 14484 | m.14484T\>C | T14484C\-F116 | T14484C\-F116\-IV1 | Fam | M | Y | Y | ND | 15y | Homo | / | / | / | LHON; profound visual impairment; onset 14y; co\_variant A14617T | Original label WZ338\-IV\-1 | | 198 | 14484 | m.14484T\>C | T14484C\-F117 | T14484C\-F117\-IV3 | Fam | M | Y | Y | ND | 24y | Homo | / | / | / | LHON; mild visual impairment; onset 23y; co\_variant A14617T | Original label WZ624\-IV\-3 | | 199 | 14484 | m.14484T\>C | T14484C\-F118 | T14484C\-F118\-III4 | Uninf | M | Y | Y | ND | 16y\_onset | Homo | / | / | / | LHON; severe visual impairment; VA 0\.03/0\.03; co\_variant T14502C; family\_history No | Original label WZ1244\-III\-4; carrying T14502C | | 200 | 14484 | m.14484T\>C | T14484C\-F119 | T14484C\-F119\-M42 | Uninf | M | ND | Y | ND | 42 | / | / | / | / | LHON with MS\-like illness; \>2 relapses; 19 T2 white matter lesions; MRI MS\-consistent by two of three raters | | | 201 | 14484 | m.14484T\>C | T14484C\-F120 | T14484C\-F120\-P1 | Uninf | F | ND | Y | ND | 34 | / | / | / | / | LHON with MS\-like illness; 3 relapses with secondary progression; 12 T2 white matter lesions; MRI MS\-consistent by three raters | | | 202 | 14484 | m.14484T\>C | T14484C\-F121 | T14484C\-F121\-P1 | Uninf | F | Y | Y | ND | 30 | / | / | / | Homo(F) | LHON plus | | | 203 | 14484 | m.14484T\>C | T14484C\-F122 | T14484C\-F122\-III3 | Fam | M | Y | Y | ND | 27 | Positive; load NR | / | / | / | LHON; mild visual impairment; VA 0\.3/0\.6 | Original label WZ1042\-III\-3 | | 204 | 14484 | m.14484T\>C | T14484C\-F123 | T14484C\-F123\-III6 | Uninf | M | Y | Y | ND | 20 | Positive; load NR | / | / | / | LHON; severe visual impairment; VA 0\.04/0\.04 | Original label WZ1235\-III\-6 | | 205 | 14484 | m.14484T\>C | T14484C\-F124 | T14484C\-F124\-III6 | Fam | M | Y | Y | ND | 26 | Positive; load NR | / | / | / | LHON; severe visual impairment; VA 0\.04/0\.1 | Original label WZ371\-III\-6 | | 206 | 14484 | m.14484T\>C | T14484C\-F125 | T14484C\-F125\-III10 | Fam | M | Y | Y | ND | 14 | Positive; load NR | / | / | / | LHON; mild visual loss; VA 0\.1/0\.1 | Original label WZ422\-III\-10 | | 207 | 14484 | m.14484T\>C | T14484C\-F126 | T14484C\-F126\-III18 | Fam | M | Y | Y | ND | 30 | Positive; load NR | / | / | / | LHON; mild visual loss; VA 0\.1/0\.12 | Original label WZ734\-III\-18 | | 208 | 14484 | m.14484T\>C | T14484C\-F127 | T14484C\-F127\-III2 | Fam | F | Y | Y | A | 76 | \~50% | / | \~50% | / | Subacute progressive bilateral vision loss at 75; no light perception at nadir; temporal optic disc pallor; OCT retinal nerve fiber thinning; partial improvement to hand motion after idebenone; glaucoma | | | 209 | 14484 | m.14484T\>C | T14484C\-F127 | T14484C\-F127\-IV1 | Fam | F | N | Y | A | 46 | \~80% | / | \~80% | / | Moderate childhood\-onset vision loss at 6; bilateral central scotoma and papillary pallor; visual acuity stable at 0\.32/0\.32 | also homoplasmic for m.11778G\>A; never smoked or drank alcohol | | 210 | 14484 | m.14484T\>C | T14484C\-F127 | T14484C\-F127\-IV2 | Fam | F | N | Y | A | 36 | \~60% | / | \~60% | / | Mild childhood\-onset vision loss at 9; bilateral central scotoma and papillary pallor; visual acuity stable at 0\.60/0\.80 | also homoplasmic for m.11778G\>A; never smoked or drank alcohol | | 211 | 14484 | m.14484T\>C | T14484C\-F128 | T14484C\-F128\-III1 | Fam | M | Y | Y | A | 16 | / | / | / | Positive (ND) | LHON with acute bilateral central vision loss; Type 1 diabetes; recovery to OD 20/40\+ OS 20/50\+ by 16 months | | | 212 | 14484 | m.14484T\>C | T14484C\-F128 | T14484C\-F128\-II1 | Fam | M | N | Y | A | 20 y onset | / | / | / | Pedigree mt14484: affected; load NR | LHON with sudden severe permanent vision loss; no significant recovery; VA 20 years post\-neuropathy OD 20/400 OS 20/100 | | | 213 | 14484 | m.14484T\>C | T14484C\-F129 | T14484C\-F129\-P1 | Fam | M | Y | Y | A | 16 | / | / | 25\-35% | 35\-45% (BM) | Severe ichthyosiform erythroderma; severe mental retardation; ataxia; spastic dystonia; impaired hearing; lactic acid elevation; no typical visual impairment | | | 214 | 14484 | m.14484T\>C | T14484C\-F129 | T14484C\-F129\-P2 | Fam | F | N | N | A | ND | / | / | \>90% | \>90% (BM) | No dermatological or psycho\-neurological disorders reported | | | 215 | 14484 | m.14484T\>C | T14484C\-F129 | T14484C\-F129\-P3 | Fam | M | N | N | A | 10 | / | / | 100% | 100% (BM) | No dermatological or psycho\-neurological disorders reported | | | 216 | 14484 | m.14484T\>C | T14484C\-F130 | T14484C\-F130\-P1 | Fam | M | Y | Y | A | 8 | / | / | / | Homo (ND) | Early\-onset severe visual impairment from LHON; longitudinally extensive transverse myelitis, lower\-limb weakness, sensory symptoms, dysautonomia, hypertension/diaphoresis, near\-complete recovery | | | 217 | 14484 | m.14484T\>C | T14484C\-F131 | T14484C\-F131\-P1 | Fam | ND | Y | Y | ND | ND | Homo | / | / | / | Abnormal fatigue with abnormal NIRS oxygen extraction; no optic neuropathy reported | Original label S4 | | 218 | 14484 | m.14484T\>C | T14484C\-F132 | T14484C\-F132\-P1 | Uninf | M | Y | Y | A | 19 | 100% | / | / | / | LHON; unilateral optic neuropathy at baseline; bilateral eye involvement during follow\-up; later visual acuity improvement | Original label P4; idebenone after cyclosporine start | | 219 | 14484 | m.14484T\>C | T14484C\-F133 | T14484C\-F133\-P1 | Fam | M | Y | Y | ND | 8 | Homo | / | / | / | Optic atrophy; OD 0\.2, OS 0\.2; onset age 7\.5 | Original label P30 | | 220 | 14484 | m.14484T\>C | T14484C\-F133 | T14484C\-F133\-P2 | Fam | F | N | N | ND | ND | Homo | / | / | / | Healthy | | | 221 | 14484 | m.14484T\>C | T14484C\-F134 | T14484C\-F134\-P1 | Uninf | M | Y | Y | ND | ND | / | 53% | / | / | Clinically defined pediatric MD; developmental regression; CNS involvement; eye involvement; muscle involvement; liver involvement; later fucosidosis | Original label S014 | | 222 | 14484 | m.14484T\>C | T14484C\-F135 | T14484C\-F135\-II1 | Fam | M | Y | Y | A | 36 | Homo | / | / | Homo (F) | Optic neuropathy, ptosis, dystonia, dysarthria, ataxia, recurrent transverse myelitis | Also has MT\-ND4 m.11778G\>A in blood/fibroblast | | 223 | 14484 | m.14484T\>C | T14484C\-F135 | T14484C\-F135\-I2 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | | | 224 | 14484 | m.14484T\>C | T14484C\-F136 | T14484C\-F136\-P1 | Fam | M | Y | Y | ND | 37 | / | / | / | 40\-50% (ND) | LHON / symptomatic visual loss context | | | 225 | 14484 | m.14484T\>C | T14484C\-F136 | T14484C\-F136\-P2 | Fam | F | N | N | ND | 57 | / | / | / | 40\-50% (ND) | Healthy | hypothyroidism reported as unrelated | | 226 | 14484 | m.14484T\>C | T14484C\-F137 | T14484C\-F137\-P1 | Fam | M | Y | Y | ND | 20 | / | / | / | 50\-60% (ND) | LHON / symptomatic visual loss context | | | 227 | 14484 | m.14484T\>C | T14484C\-F137 | T14484C\-F137\-P2 | Fam | F | N | N | ND | 52 | / | / | / | 50\-60% (ND) | Healthy | | | 228 | 14484 | m.14484T\>C | T14484C\-F138 | T14484C\-F138\-III1 | Fam | F | N | N | ND | ND | Heteroplasmic; load NR | / | / | / | Healthy | Original label III\-1 | | 229 | 14484 | m.14484T\>C | T14484C\-F138 | T14484C\-F138\-IV1 | Fam | M | N | Y | ND | ND | Heteroplasmic; load NR | / | / | / | Affected LHON / clinical form | Original label IV\-1 | | 230 | 14484 | m.14484T\>C | T14484C\-F138 | T14484C\-F138\-IV2 | Fam | M | Y | Y | ND | ND | Heteroplasmic; load NR | / | / | / | LHON | Original label IV\-2 | | 231 | 14484 | m.14484T\>C | T14484C\-F139 | T14484C\-F139\-P1 | Uninf | M | Y | Y | A | 57 | / | / | / | Homo (ND) | Longitudinally extensive dorsal column myelopathy followed by bilateral optic neuropathy | | | 232 | 14484 | m.14484T\>C | T14484C\-F140 | T14484C\-F140\-P1 | Fam | M | ND | Y | ND | 28 | Homo | / | / | / | LHON; onset 14; VA RE 0\.9, LE 1\.0; central scotoma | Original label A16 | | 233 | 14484 | m.14484T\>C | T14484C\-F140 | T14484C\-F140\-C12 | Fam | F | N | N | ND | 58 | Homo | / | / | / | Healthy | | | 234 | 14484 | m.14484T\>C | T14484C\-F141 | T14484C\-F141\-P1 | Fam | M | ND | Y | ND | 39 | Homo | / | / | / | LHON; onset 38; VA RE 1\.5, LE 1\.0; central scotoma | Original label A17 | | 235 | 14484 | m.14484T\>C | T14484C\-F142 | T14484C\-F142\-P1 | Fam | M | ND | Y | ND | 43 | Homo | / | / | / | LHON; onset 28; VA RE 1\.4, LE 1\.1; abnormal flash VEPs | Original label A18 | | 236 | 14484 | m.14484T\>C | T14484C\-F143 | T14484C\-F143\-P1 | Fam | M | N | Y | ND | 44 | Homo | / | / | / | LHON; onset 14; VA RE 0\.8, LE 0\.9 | Original label A19 | | 237 | 14484 | m.14484T\>C | T14484C\-F143 | T14484C\-F143\-P2 | Fam | M | Y | Y | ND | 48 | Homo | / | / | / | LHON; onset 25; VA RE 0\.4, LE 0\.3 | Original label A20 | | 238 | 14484 | m.14484T\>C | T14484C\-F144 | T14484C\-F144\-P1 | Uninf | M | Y | Y | A | 53 | / | / | / | Homo (ND) | Bilateral\_visual\_loss;cecocentral\_scotomas;essential\_tremor | Original label Case 1 | | 239 | 14484 | m.14484T\>C | T14484C\-F145 | T14484C\-F145\-P1 | Uninf | M | Y | Y | ND | 67 | Homo | / | / | / | Suspected mitochondrial disorder; partial genetic explanation; individual HPO terms not reported | | | 240 | 14484 | m.14484T\>C | T14484C\-F146 | T14484C\-F146\-IV1 | Fam | F | Y | Y | ND | 23 | / | / | / | Homo (LCL/cybrid) | LHON; visual impairment | Original label IV\-1; WZ61 | | 241 | 14484 | m.14484T\>C | T14484C\-F147 | T14484C\-F147\-P1 | Uninf | M | Y | Y | A | 20 | Homo | / | / | / | Numbness, visual problem, muscle weakness; disease duration 1 year; EDSS 3 | Original label P2; P2; carrying T10237C, T5442C and A13105G | | 242 | 14484 | m.14484T\>C | T14484C\-F148 | T14484C\-F148\-III1 | Fam | M | Y | Y | A | 33 | 100% | / | / | / | Bilateral acute painless visual loss; abnormal color vision; pale optic discs | Original label A | | 243 | 14484 | m.14484T\>C | T14484C\-F148 | T14484C\-F148\-III2 | Fam | M | N | N | A | 33 | 100% | / | / | / | Healthy | Original label B | | 244 | 14484 | m.14484T\>C | T14484C\-F149 | T14484C\-F149\-P1 | Fam | M | Y | Y | A | 15 | / | / | / | Homo (ND) | Bilateral progressive painless vision loss; optic atrophy; severe ganglion cell loss; no improvement at 1\-year review | | | 245 | 14484 | m.14484T\>C | T14484C\-F149 | T14484C\-F149\-P2 | Fam | F | N | N | A | 44 | / | / | / | Homo (ND) | Healthy | | | 246 | 14484 | m.14484T\>C | T14484C\-F149 | T14484C\-F149\-P3 | Fam | F | N | N | A | 22 | / | / | / | Homo (ND) | Healthy | | | 247 | 14484 | m.14484T\>C | T14484C\-F149 | T14484C\-F149\-P4 | Fam | F | N | N | A | 5 | / | / | / | Homo (ND) | Healthy | | | 248 | 14484 | m.14484T\>C | T14484C\-F150 | T14484C\-F150\-P1 | Fam | M | Y | Y | A | 30 | / | / | / | Homo(F) | LHON; bilateral painless vision loss; visual acuity R 1\.3 L 0\.5; idebenone therapy yes; vision recovery yes | | | 249 | 14484 | m.14484T\>C | T14484C\-F150 | T14484C\-F150\-P2 | Fam | F | N | N | A | 62 | / | / | / | Homo(F) | Healthy | no idebenone therapy | | 250 | 14484 | m.14484T\>C | T14484C\-F151 | T14484C\-F151\-IV2 | Fam | M | Y | Y | A | ND | Positive; load NR | / | / | / | LHON optic neuropathy | Original label ZJL541\-IV\-2 | | 251 | 14484 | m.14484T\>C | T14484C\-F152 | T14484C\-F152\-III9 | Fam | M | Y | Y | A | ND | Positive; load NR | / | / | / | LHON optic neuropathy | Original label ZJL733\-III\-9 | | 252 | 14484 | m.14484T\>C | T14484C\-F153 | T14484C\-F153\-III2 | Fam | M | Y | Y | A | ND | Positive; load NR | / | / | / | LHON optic neuropathy | Original label ZJL847\-III\-2 | | 253 | 14484 | m.14484T\>C | T14484C\-F154 | T14484C\-F154\-P1 | Uninf | M | Y | Y | A | 27 | Positive; load NR | / | / | / | LHON after bilateral simultaneous optic neuropathy; MRI brain lesions 0 | Original label Patient 13 | | 254 | 14484 | m.14484T\>C | T14484C\-F155 | T14484C\-F155\-P1 | Fam | M | Y | Y | A | 45 | / | / | / | Homo (F) | LHON | | | 255 | 14484 | m.14484T\>C | T14484C\-F155 | T14484C\-F155\-P2 | Fam | F | N | N | A | 75 | / | / | / | Homo (F) | Healthy | | | 256 | 14484 | m.14484T\>C | T14484C\-F155 | T14484C\-F155\-P3 | Fam | F | N | N | A | 39 | / | / | / | Homo (F) | Healthy | | | 257 | 14484 | m.14484T\>C | T14484C\-F156 | T14484C\-F156\-P1 | Fam | ND | Y | Y | ND | ND | Heteroplasmic; load NR | / | / | / | LHON | Original label L34 | | 258 | 14484 | m.14484T\>C | T14484C\-F156 | T14484C\-F156\-P2 | Fam | ND | N | N | ND | ND | Heteroplasmic; load NR | / | / | / | Healthy | Original label P2 | | 259 | 14484 | m.14484T\>C | T14484C\-F156 | T14484C\-F156\-P3 | Fam | ND | N | N | ND | ND | Heteroplasmic; load NR | / | / | / | Healthy | Original label P3 | | 260 | 14484 | m.14484T\>C | T14484C\-F156 | T14484C\-F156\-P4 | Fam | ND | N | N | ND | ND | Heteroplasmic; load NR | / | / | / | Healthy | Original label P4 | | 261 | 14484 | m.14484T\>C | T14484C\-F156 | T14484C\-F156\-P5 | Fam | ND | N | N | ND | ND | Heteroplasmic; load NR | / | / | / | Healthy | Original label P5 | | 262 | 14484 | m.14484T\>C | T14484C\-F157 | T14484C\-F157\-P1 | Fam | ND | Y | Y | ND | ND | Homo | / | / | / | LHON | Original label L35 | | 263 | 14484 | m.14484T\>C | T14484C\-F157 | T14484C\-F157\-P2 | Fam | M | N | Y | ND | ND | Homo | / | / | / | LHON | Original label P2 | | 264 | 14484 | m.14484T\>C | T14484C\-F157 | T14484C\-F157\-P3 | Fam | M | N | Y | ND | ND | Homo | / | / | / | LHON | Original label P3 | | 265 | 14484 | m.14484T\>C | T14484C\-F158 | T14484C\-F158\-P1 | Uninf | M | Y | Y | A | 51 | / | / | / | Positive (ND) | LHON; palpitations; left ventricular dilatation; ECG abnormality | Original label Patient 20 | | 266 | 14484 | m.14484T\>C | T14484C\-F159 | T14484C\-F159\-P1 | Uninf | M | Y | Y | A | 63 | / | / | / | Positive (ND) | LHON; no cardiac symptoms reported | Original label Patient 21 | | 267 | 14484 | m.14484T\>C | T14484C\-F160 | T14484C\-F160\-P1 | Uninf | M | Y | Y | A | 56 | / | / | / | Positive (ND) | LHON; no cardiac symptoms reported | Original label Patient 22 | | 268 | 14484 | m.14484T\>C | T14484C\-F161 | T14484C\-F161\-P1 | Uninf | M | Y | Y | A | 40 | / | / | / | Positive (ND) | LHON; no cardiac symptoms reported | Original label Patient 23 | | 269 | 14484 | m.14484T\>C | T14484C\-F162 | T14484C\-F162\-P1 | Uninf | M | Y | Y | A | 67 | / | / | / | Positive (ND) | LHON; no cardiac symptoms reported | Original label Patient 24 | | 270 | 14484 | m.14484T\>C | T14484C\-F163 | T14484C\-F163\-V2 | Fam | M | Y | Y | A | 17 | Homo | / | / | / | LHON; acute bilateral visual loss after toxic/drug exposure | Original label V\-2; cocaine, ecstasy, and telithromycin exposure | | 271 | 14484 | m.14484T\>C | T14484C\-F163 | T14484C\-F163\-IV2 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Original label IV\-2 | | 272 | 14484 | m.14484T\>C | T14484C\-F163 | T14484C\-F163\-III4 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Original label III\-4 | | 273 | 14484 | m.14484T\>C | T14484C\-F164 | T14484C\-F164\-P1 | Uninf | M | Y | Y | A | 26 | 100% | / | / | / | LHON; no current hearing symptoms; left mild high\-frequency conductive hearing loss | Original label source patient H | | 274 | 14484 | m.14484T\>C | T14484C\-F165 | T14484C\-F165\-P1 | Uninf | M | Y | Y | A | 55 | 100% | / | / | / | LHON; difficulty hearing speech in crowds; bilateral mild high\-frequency sensorineural hearing loss | Original label source patient J | | 275 | 14484 | m.14484T\>C | T14484C\-F166 | T14484C\-F166\-III2 | Fam | M | Y | Y | A | ND | Homo | / | / | / | LHON | | | 276 | 14484 | m.14484T\>C | T14484C\-F167 | T14484C\-F167\-III8 | Fam | M | Y | Y | A | ND | Homo | / | / | / | LHON | | | 277 | 14484 | m.14484T\>C | T14484C\-F168 | T14484C\-F168\-III5 | Fam | M | Y | Y | A | ND | Homo | / | / | / | LHON | | | 278 | 14484 | m.14484T\>C | T14484C\-F169 | T14484C\-F169\-II3 | Fam | M | Y | Y | A | ND | Homo | / | / | / | LHON | | | 279 | 14484 | m.14484T\>C | T14484C\-F170 | T14484C\-F170\-III1 | Fam | M | Y | Y | A | ND | Homo | / | / | / | LHON | | | 280 | 14484 | m.14484T\>C | T14484C\-F171 | T14484C\-F171\-III7 | Fam | M | Y | Y | A | ND | Homo | / | / | / | LHON | | | 281 | 14484 | m.14484T\>C | T14484C\-F172 | T14484C\-F172\-III1 | Uninf | M | Y | Y | A | ND | Homo | / | / | / | LHON | | | 282 | 14484 | m.14484T\>C | T14484C\-F173 | T14484C\-F173\-III1 | Fam | M | Y | Y | A | ND | Homo | / | / | / | LHON | | | 283 | 14484 | m.14484T\>C | T14484C\-F174 | T14484C\-F174\-IV1 | Fam | M | Y | Y | A | ND | Homo | / | / | / | LHON | | | 284 | 14484 | m.14484T\>C | T14484C\-F175 | T14484C\-F175\-III2 | Fam | M | Y | Y | A | ND | Homo | / | / | / | LHON | | | 285 | 14484 | m.14484T\>C | T14484C\-F176 | T14484C\-F176\-III10 | Fam | M | Y | Y | A | ND | Homo | / | / | / | LHON | | | 286 | 14484 | m.14484T\>C | T14484C\-F177 | T14484C\-F177\-III1 | Fam | M | Y | Y | A | ND | Homo | / | / | / | LHON; bilateral central vision loss; scotoma; optic disc atrophy | Original label P18\-III1 | | 287 | 14484 | m.14484T\>C | T14484C\-F178 | T14484C\-F178\-III5 | Fam | M | Y | Y | A | ND | Homo | / | / | / | LHON; bilateral central vision loss; scotoma; optic disc atrophy | Original label P24\-III5 | | 288 | 14484 | m.14484T\>C | T14484C\-F179 | T14484C\-F179\-III1 | Fam | M | Y | Y | A | ND | Homo | / | / | / | LHON; bilateral central vision loss; scotoma; optic disc atrophy | Original label P26\-III1 | | 289 | 14484 | m.14484T\>C | T14484C\-F180 | T14484C\-F180\-II1 | Uninf | M | Y | Y | A | ND | Homo | / | / | / | LHON; bilateral central vision loss; scotoma; optic disc atrophy | Original label P33\-II1 | | 290 | 14484 | m.14484T\>C | T14484C\-F181 | T14484C\-F181\-III1 | Fam | M | Y | Y | A | ND | Homo | / | / | / | LHON; bilateral central vision loss; scotoma; optic disc atrophy | Original label P35\-III1 | | 291 | 14484 | m.14484T\>C | T14484C\-F182 | T14484C\-F182\-III1 | Uninf | M | Y | Y | A | ND | Homo | / | / | / | LHON; bilateral central vision loss; scotoma; optic disc atrophy | Original label P41\-III1 | | 292 | 14484 | m.14484T\>C | T14484C\-F183 | T14484C\-F183\-III1 | Uninf | M | Y | Y | A | ND | Homo | / | / | / | LHON; bilateral central vision loss; scotoma; optic disc atrophy | Original label P48\-III1 | | 293 | 14484 | m.14484T\>C | T14484C\-F184 | T14484C\-F184\-III1 | Fam | M | Y | Y | A | ND | Homo | / | / | / | LHON; bilateral central vision loss; scotoma; optic disc atrophy | Original label P51\-III1 | | 294 | 14484 | m.14484T\>C | T14484C\-F185 | T14484C\-F185\-P1 | Uninf | F | Y | Y | ND | 9 y onset | / | / | / | Positive (ND) | LHON; gradual visual deterioration over 2 years; final BCVA RE 0\.17, LE 0\.25 | Original label Patient 21 | | 295 | 14484 | m.14484T\>C | T14484C\-F186 | T14484C\-F186\-P1 | Uninf | M | Y | Y | ND | 10 y onset | / | / | / | Positive (ND) | LHON; recovery | Original label Patient 22 | | 296 | 14484 | m.14484T\>C | T14484C\-F187 | T14484C\-F187\-P1 | Uninf | M | Y | Y | ND | 5 y onset | / | / | / | Positive (ND) | LHON; preschool\-screening visual acuity abnormality | Original label Patient 23 | | 297 | 14484 | m.14484T\>C | T14484C\-F188 | T14484C\-F188\-P1 | Fam | ND | ND | Y | ND | 6 y onset | / | / | / | Positive (ND) | LHON | Original label Patient 24 | | 298 | 14484 | m.14484T\>C | T14484C\-F188 | T14484C\-F188\-P2 | Fam | ND | ND | Y | ND | 6 y onset | / | / | / | Positive (ND) | LHON | Original label Patient 25 | | 299 | 14484 | m.14484T\>C | T14484C\-F188 | T14484C\-F188\-P3 | Fam | ND | ND | Y | ND | 4 y onset | / | / | / | Positive (ND) | LHON | Original label Patient 26 | | 300 | 14484 | m.14484T\>C | T14484C\-F188 | T14484C\-F188\-P4 | Fam | ND | ND | Y | ND | 5 y onset | / | / | / | Positive (ND) | LHON | Original label Patient 27 | | 301 | 14484 | m.14484T\>C | T14484C\-F189 | T14484C\-F189\-P1 | Uninf | M | Y | Y | A | 11 | / | / | / | Homo (ND) | LHON; optic disc pallor; color vision affected; central scotoma | Original label Patient 1; carrying G11778A (Homo) | | 302 | 14484 | m.14484T\>C | T14484C\-F189 | T14484C\-F189\-P2 | Uninf | F | N | ND | A | ND | / | / | / | Homo (ND) | ND | carrying G11778A (Heteroplasmic) | | 303 | 14484 | m.14484T\>C | T14484C\-F190 | T14484C\-F190\-P1 | Uninf | M | Y | Y | A | 48 | / | / | / | Positive (ND) | Chronic LHON; bilateral optic disc atrophy | Original label Patient 2; idebenone 300 mg tid | | 304 | 14484 | m.14484T\>C | T14484C\-F191 | T14484C\-F191\-P1 | Uninf | M | Y | Y | A | 53 | / | / | / | Positive (ND) | Chronic LHON; bilateral optic disc atrophy | Original label Patient 3; previous retrobulbar corticosteroid injection in both eyes; idebenone 300 mg tid | | 305 | 14484 | m.14484T\>C | T14484C\-F192 | T14484C\-F192\-P1 | Uninf | M | Y | Y | A | 25 | / | / | / | Positive (ND) | Chronic LHON; bilateral optic disc atrophy | Original label Patient 4; idebenone 300 mg tid | | 306 | 14484 | m.14484T\>C | T14484C\-F193 | T14484C\-F193\-P1 | Uninf | M | Y | Y | A | 57 | / | / | / | Positive (ND) | Chronic LHON; bilateral optic disc atrophy | Original label Patient 7; idebenone 300 mg tid | | 307 | 14484 | m.14484T\>C | T14484C\-F194 | T14484C\-F194\-P1 | Uninf | M | Y | Y | A | 17 | Positive | / | / | / | LHON; disc pallor; color vision affected; BE\-CS | Original label P29 | | 308 | 14484 | m.14484T\>C | T14484C\-F195 | T14484C\-F195\-P1 | Uninf | M | Y | Y | A | 17 | Positive | / | / | / | LHON; disc pallor; color vision affected; BE\-large cs | Original label P30 | | 309 | 14484 | m.14484T\>C | T14484C\-F196 | T14484C\-F196\-P1 | Uninf | M | Y | Y | A | 18 | Positive | / | / | / | LHON; minimal TP; disc pallor; color vision affected; BE\-CS | Original label P31 | | 310 | 14484 | m.14484T\>C | T14484C\-F197 | T14484C\-F197\-P1 | Uninf | M | Y | Y | A | 38 | Positive | / | / | / | LHON; BE\-cs | Original label P32; carrying G2361A | | 311 | 14484 | m.14484T\>C | T14484C\-F198 | T14484C\-F198\-P1 | Uninf | M | Y | Y | A | 17 | Positive | / | / | / | LHON; RNFL opacification; disc pallor; color vision affected | Original label P33; carrying T921C | | 312 | 14484 | m.14484T\>C | T14484C\-F199 | T14484C\-F199\-P1 | Uninf | M | Y | Y | A | 40 | / | / | / | Positive (ND) | LHON; bilateral visual loss; central scotoma; mild visual\-field and PhNR response with 4\-AP | Original label Patient 3; idebenone; 4\-AP | | 313 | 14484 | m.14484T\>C | T14484C\-F200 | T14484C\-F200\-III8 | Fam | M | Y | Y | A | ND | Positive | / | / | / | LHON; vision\-impaired | carrying A644G | | 314 | 14484 | m.14484T\>C | T14484C\-F201 | T14484C\-F201\-III1 | Fam | M | Y | Y | A | ND | Positive | / | / | / | LHON; vision\-impaired | carrying T10010G | | 315 | 14484 | m.14484T\>C | T14484C\-F202 | T14484C\-F202\-IV1 | Fam | M | Y | Y | A | ND | Positive | / | / | / | LHON; vision\-impaired | carrying A15951G | For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).
Haoyu He
2026年6月30日 18:36
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