title: Maternally inherited Leigh syndrome.
abstract: A 6 1/2-year-old girl had developmental regression, and Leigh syndrome was diagnosed. A second girl born to the same mother after heterologous artificial insemination also lost acquired skills and died at 2 1/2 years of age; neuropathologic examination confirmed the diagnosis of Leigh syndrome. Tissues from both children and from the mother had a point mutation at nucleotide 8993 in the adenosinetriphosphatase 6-gene of mitochondrial DNA. This family illustrates that Leigh syndrome can be transmitted by maternal inheritance.
authors.affiliation: H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Columbia-Presbyterian Medical Center, New York, New York.
authors.forename: E
authors.initials: E
authors.lastname: Ciafaloni
authors.forename: F M
authors.initials: FM
authors.lastname: Santorelli
authors.forename: S
authors.initials: S
authors.lastname: Shanske
authors.forename: T
authors.initials: T
authors.lastname: Deonna
authors.forename: E
authors.initials: E
authors.lastname: Roulet
authors.forename: C
authors.initials: C
authors.lastname: Janzer
authors.forename: G
authors.initials: G
authors.lastname: Pescia
authors.forename: S
authors.initials: S
authors.lastname: DiMauro
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics; D002648:Child; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006801:Humans; D007888:Leigh Disease / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D004272:DNA, Mitochondrial; D000251:Adenosine Triphosphatases