Article
Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA.
Neurology - 1 Aug 1997
Campos Y, Martín M A, Rubio J C, Solana L G, García-Benayas C, Terradas J L, Arenas J
Abstract excerpt
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...
Topics
- Adenosine Triphosphatases
- Adult
- Child, Preschool
- DNA, Mitochondrial
- Female
- Genome
- Humans
- Isoenzymes
- Leigh Disease
- Male
- Mutation
- Pedigree