title: Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA.
abstract: A child with clinical and neuroradiologic evidence of Leigh syndrome (LS) had the T-to-C transition at nt 9176 in the ATPase 6 gene of mtDNA. The mutation was homoplasmic in muscle and maternally inherited. The proband's mother had ataxia and harbored 93% of mutant genomes in blood, whereas three clinically unaffected maternal relatives had varying degrees of heteroplasmy in blood. These data confirm the association of the T9176C mutation with LS and extend the clinical heterogeneity of mutations in the ATPase 6 gene.
authors.affiliation: Centro de Investigación Hospital 12 de Octurbre, Madrid, Spain.
authors.forename: Y
authors.initials: Y
authors.lastname: Campos
authors.forename: M A
authors.initials: MA
authors.lastname: Martín
authors.forename: J C
authors.initials: JC
authors.lastname: Rubio
authors.forename: L G
authors.initials: LG
authors.lastname: Solana
authors.forename: C
authors.initials: C
authors.lastname: García-Benayas
authors.forename: J L
authors.initials: JL
authors.lastname: Terradas
authors.forename: J
authors.initials: J
authors.lastname: Arenas
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D000328:Adult; D002675:Child, Preschool; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D016678:Genome; D006801:Humans; D007527:Isoenzymes / Q000235:genetics*; D007888:Leigh Disease / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree
chemical_list: D004272:DNA, Mitochondrial; D007527:Isoenzymes; D000251:Adenosine Triphosphatases