title: A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome.
abstract: A 5-year-old child with clinical and radiologic evidence of Leigh syndrome (LS) showed a T-->C mutation at position nt 8993 in the mitochondrial DNA (instead of the more common T-->G substitution), resulting in an amino acid change from a highly conserved leucine to proline in subunit 6 of mitochondrial ATPase. The mutation was heteroplasmic and maternally inherited, and was present in high percentages in multiple tissues. This finding documents genetic heterogeneity of the ATPase 6 gene mutation associated with LS.
authors.affiliation: H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Disease, Department of Neurology, Columbia-Presbyterian Medical Center, New York, NY 10032.
authors.forename: F M
authors.initials: FM
authors.lastname: Santorelli
authors.forename: S
authors.initials: S
authors.lastname: Shanske
authors.forename: K D
authors.initials: KD
authors.lastname: Jain
authors.forename: D
authors.initials: D
authors.lastname: Tick
authors.forename: E A
authors.initials: EA
authors.lastname: Schon
authors.forename: S
authors.initials: S
authors.lastname: DiMauro
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics; D001483:Base Sequence; D002675:Child, Preschool; D004272:DNA, Mitochondrial / Q000235:genetics*; D006801:Humans; D007888:Leigh Disease / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation
chemical_list: D004272:DNA, Mitochondrial; D000251:Adenosine Triphosphatases