title: Mitochondrial DNA transfer RNA mutation Leu(UUR)A-->G 3260: a second family with myopathy and cardiomyopathy.
abstract: A family with maternally inherited myopathy and cardiomyopathy is described. Mitochondrial DNA analysis showed a heteroplasmic point mutation at position 3260 in the leucine transfer RNA gene, previously reported in a large Italian family with a similar phenotype. This observation confirms pathogenicity of this mutation and suggests phenotypic specificity.
authors.affiliation: University Department of Clinical Neurology, Institute of Neurology, London, UK.
authors.forename: M G
authors.initials: MG
authors.lastname: Sweeney
authors.forename: M
authors.initials: M
authors.lastname: Brockington
authors.forename: M J
authors.initials: MJ
authors.lastname: Weston
authors.forename: J A
authors.initials: JA
authors.lastname: Morgan-Hughes
authors.forename: A E
authors.initials: AE
authors.lastname: Harding
mesh_terms: D000328:Adult; D004272:DNA, Mitochondrial / Q000235:genetics*; D004587:Electrophoresis, Agar Gel; D005260:Female; D006333:Heart Failure / Q000235:genetics*; D006801:Humans; D008297:Male; D009135:Muscular Diseases / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D012356:RNA, Transfer, Leu / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial; D012356:RNA, Transfer, Leu