title: Mitochondrial myopathy associated with sudden death in young adults and a novel mutation in the mitochondrial DNA leucine transfer RNA(UUR) gene.
abstract: A family exhibited maternal inheritance of a variable syndrome comprising ocular, neck and proximal upper limb weakness, psychiatric features, and sudden death. Of 15 definitely or probably affected individuals, 7 had died in early adult life, probably of respiratory failure. A novel point mutation of mitochondrial DNA, in a transfer RNA gene at position 3251, was detected in all living affected family members.
authors.affiliation: University Department of Clinical Neurology, Institute of Neurology, London, UK.
authors.forename: M G
authors.initials: MG
authors.lastname: Sweeney
authors.forename: S
authors.initials: S
authors.lastname: Bundey
authors.forename: M
authors.initials: M
authors.lastname: Brockington
authors.forename: K R
authors.initials: KR
authors.lastname: Poulton
authors.forename: J B
authors.initials: JB
authors.lastname: Winer
authors.forename: A E
authors.initials: AE
authors.lastname: Harding
mesh_terms: D000328:Adult; D004272:DNA, Mitochondrial / Q000235:genetics*; D003645:Death, Sudden / Q000209:etiology*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D017237:Mitochondrial Encephalomyopathies / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D012356:RNA, Transfer, Leu / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial; D012356:RNA, Transfer, Leu