title: Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy.
abstract: A patient with progressive exercise intolerance, proximal weakness, and complex III deficiency in skeletal muscle had a missense mutation in the cytochrome b gene of mitochondrial DNA (G15762A). The mutation, which leads to the substitution of a highly conserved amino acid (G339E), was heteroplasmic (85%) in the patient's muscle and was not present in 100 individuals of different ethnic backgrounds. These data strongly suggest that this molecular defect is the primary cause of the myopathy.
authors.affiliation: H. Houston Merritt Center for Muscular Dystrophy and Related Diseases, Department of Neurology, Columbia College of Physicians and Surgeons, New York, NY 10032, USA.
authors.forename: A L
authors.initials: AL
authors.lastname: Andreu
authors.forename: C
authors.initials: C
authors.lastname: Bruno
authors.forename: S
authors.initials: S
authors.lastname: Shanske
authors.forename: A
authors.initials: A
authors.lastname: Shtilbans
authors.forename: M
authors.initials: M
authors.lastname: Hirano
authors.forename: S
authors.initials: S
authors.lastname: Krishna
authors.forename: L
authors.initials: L
authors.lastname: Hayward
authors.forename: D S
authors.initials: DS
authors.lastname: Systrom
authors.forename: R H
authors.initials: RH
authors.lastname: Brown
authors.forename: S
authors.initials: S
authors.lastname: DiMauro
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D003067:Coenzymes; D017124:Conserved Sequence; D003573:Cytochrome b Group / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics*; D014450:Electron Transport Complex III / Q000172:deficiency; D019143:Evolution, Molecular; D015444:Exercise / Q000502:physiology; D005260:Female; D005492:Folic Acid / Q000627:therapeutic use; D006801:Humans; D009682:Magnetic Resonance Spectroscopy; D008931:Mitochondria, Muscle / Q000378:metabolism; D017240:Mitochondrial Myopathies / Q000188:drug therapy / Q000235:genetics* / Q000378:metabolism; D008969:Molecular Sequence Data; D018482:Muscle, Skeletal / Q000378:metabolism; D020125:Mutation, Missense; D010710:Phosphates / Q000378:metabolism; D010725:Phosphocreatine / Q000378:metabolism; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid; D014451:Ubiquinone / Q000031:analogs & derivatives / Q000627:therapeutic use
chemical_list: D003067:Coenzymes; D003573:Cytochrome b Group; D004272:DNA, Mitochondrial; D010710:Phosphates; D010725:Phosphocreatine; D014451:Ubiquinone; D005492:Folic Acid; D014450:Electron Transport Complex III; C024989:coenzyme Q10