title: Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families.
abstract: 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.
authors.affiliation: Murdoch Institute, Royal Children's Hospital, Melbourne, Australia.
authors.forename: D M
authors.initials: DM
authors.lastname: Kirby
authors.forename: S G
authors.initials: SG
authors.lastname: Kahler
authors.forename: M L
authors.initials: ML
authors.lastname: Freckmann
authors.forename: D
authors.initials: D
authors.lastname: Reddihough
authors.forename: D R
authors.initials: DR
authors.lastname: Thorburn
mesh_terms: 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
chemical_list: D004272:DNA, Mitochondrial; D009247:NADH, NADPH Oxidoreductases