title: MELAS associated with a mutation in the valine transfer RNA gene of mitochondrial DNA.
abstract: We describe a patient with the mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS) phenotype in whom initial investigations in skeletal muscle failed to show any histochemical or biochemical defect. Subsequent analysis of the mitochondrial genome identified a new heteroplasmic mutation in the valine transfer RNA gene, the first described in this region.
authors.affiliation: Department of Neurology, University of Newcastle upon Tyne, London, United Kingdom.
authors.forename: R W
authors.initials: RW
authors.lastname: Taylor
authors.forename: P F
authors.initials: PF
authors.lastname: Chinnery
authors.forename: F
authors.initials: F
authors.lastname: Haldane
authors.forename: A A
authors.initials: AA
authors.lastname: Morris
authors.forename: L A
authors.initials: LA
authors.lastname: Bindoff
authors.forename: J
authors.initials: J
authors.lastname: Wilson
authors.forename: D M
authors.initials: DM
authors.lastname: Turnbull
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D004272:DNA, Mitochondrial / Q000235:genetics*; D005796:Genes; D006801:Humans; D017241:MELAS Syndrome / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D010641:Phenotype; D017354:Point Mutation; D012343:RNA, Transfer / Q000235:genetics*; D014633:Valine / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial; D012343:RNA, Transfer; D014633:Valine