Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families.
Leigh disease can be caused by defects of both nuclear and mitochondrially encoded genes. One mitochondrial DNA mutation, G14459A, has been associated with both respiratory chain complex I deficiency and Leber's hereditary optic neuropathy, with or without dystonia. Here, we report the occurrence of this mutation in 3 complex I-deficient patients from 2 separate pedigrees who presented with Leigh disease, with no evidence or family history of Leber's hereditary optic neuropathy or dystonia.
Kirby
D M
DM
Murdoch Institute, Royal Children's Hospital, Melbourne, Australia.
Kahler
S G
SG
Freckmann
M L
ML
Reddihough
D
D
Thorburn
D R
DR
D000293:Adolescent; D002648:Child; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007888:Leigh Disease / Q000209:etiology* / Q000235:genetics*; D008297:Male; D009247:NADH, NADPH Oxidoreductases / Q000235:genetics; D017354:Point Mutation / Q000235:genetics
D004272:DNA, Mitochondrial; D009247:NADH, NADPH Oxidoreductases