title: Leigh syndrome resulting from de novo mutation at position 8993 of mitochondrial DNA.
authors.affiliation: Oxford Medical Genetics Laboratory, Churchill Hospital, UK.
authors.forename: A
authors.initials: A
authors.lastname: Seller
authors.forename: C R
authors.initials: CR
authors.lastname: Kennedy
authors.forename: I K
authors.initials: IK
authors.lastname: Temple
authors.forename: G K
authors.initials: GK
authors.lastname: Brown
mesh_terms: D004272:DNA, Mitochondrial; D017809:Fatal Outcome; D006147:Guanine; D006801:Humans; D007231:Infant, Newborn; D007888:Leigh Disease / Q000201:enzymology / Q000235:genetics* / Q000401:mortality; D008297:Male; D017354:Point Mutation; D006180:Proton-Translocating ATPases / Q000235:genetics; D013577:Syndrome; D013941:Thymine
chemical_list: D004272:DNA, Mitochondrial; D006147:Guanine; D006180:Proton-Translocating ATPases; D013941:Thymine