title: A new mitochondrial tRNA(Met) gene mutation in a patient with dystrophic muscle and exercise intolerance.
abstract: A 30-year-old woman with a novel heteroplasmic U4409C mtDNA mutation in the tRNA(Met) gene presented with growth retardation, muscle weakness, severe exercise intolerance, and lactic acidosis. Muscle biopsy showed unusually severe dystrophic features. The mutation was not present in maternal relatives or 25 healthy subjects. Single-fiber PCR-RFLP analysis of mtDNA showed higher proportion of the mutation in COX-negative than in COX-positive muscle fibers.
authors.affiliation: Department of Neurology, Copenhagen Muscle Research Center, Rigshospitalet, University of Copenhagen, Denmark.
authors.forename: J
authors.initials: J
authors.lastname: Vissing
authors.forename: M B
authors.initials: MB
authors.lastname: Salamon
authors.forename: P
authors.initials: P
authors.lastname: Arlien-Søborg
authors.forename: S
authors.initials: S
authors.lastname: Nørby
authors.forename: P
authors.initials: P
authors.lastname: Manta
authors.forename: S
authors.initials: S
authors.lastname: DiMauro
authors.forename: H
authors.initials: H
authors.lastname: Schmalbruch
mesh_terms: D000328:Adult; D001483:Base Sequence; D002319:Cardiovascular System / Q000503:physiopathology; D004272:DNA, Mitochondrial / Q000235:genetics; D017079:Exercise Tolerance / Q000502:physiology*; D005260:Female; D006801:Humans; D008969:Molecular Sequence Data; D015394:Molecular Structure; D009132:Muscles / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D009154:Mutation / Q000235:genetics; D009420:Nervous System / Q000503:physiopathology; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D012313:RNA / Q000235:genetics*; D000077278:RNA, Mitochondrial; D012358:RNA, Transfer, Met / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial; D000077278:RNA, Mitochondrial; D012358:RNA, Transfer, Met; D012313:RNA