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. 2006 Aug 2;90(11):1420–1424. doi: 10.1136/bjo.2006.099333

Table 1 Mitochondrial mutation, haplogroup and phenotype of OPTN Met98Lys carriers from pedigrees with Leber's hereditary optic neuropathy.

Pedigree mtDNA mutation mtDNA haplogroup Age at most recent examination (years) Sex Manifesting LOV Age at LOV (years)
Vic2 14484T→C (heteroplasmy) J 19 F Yes 6
Vic2 14484T→C (heteroplasmy) J 50 F Yes 14
Vic2 14484T→C (Heteroplasmy) J 26 F Yes 17
Vic19 11778G→A B 22 M Yes 24
Qld1 11778G→A T 41 M Yes 28
Tas1 11778G→A H 45 M No
Tas1 11778G→A H 47 F No
Tas1 11778G→A H 21 M No
Vic5 11778G→A K 35 F No
Vic5 11778G→A K 62 F No
Vic5 11778G→A K 35 F No
Vic6 11778G→A H 48 F No
Vic7 11778G→A I 24 M No
WA3 11778G→A I 30 M No

F, female; LOV, loss of vision; M, male; mtDNA, mitochondrial DNA.