title: A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuria.
abstract: We describe a new mitochondrial DNA mutation in the cytochrome b gene in a patient presenting with progressive exercise intolerance and myoglobinuria associated with complex III deficiency in muscle. The point mutation results in the replacement of a glycine at amino acid position 190 with a stop codon. This change predicts premature termination of translation, leading to a truncated protein missing 244 amino acids at the C-terminus of cytochrome b. The mutation fulfills all the accepted criteria for pathogenicity, suggesting that this is the primary cause of the myopathy in the patient.
authors.affiliation: MDA H. Houston Merritt Clinical Research 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: T C
authors.initials: TC
authors.lastname: Dunne
authors.forename: K
authors.initials: K
authors.lastname: Tanji
authors.forename: S
authors.initials: S
authors.lastname: Shanske
authors.forename: C M
authors.initials: CM
authors.lastname: Sue
authors.forename: S
authors.initials: S
authors.lastname: Krishna
authors.forename: G M
authors.initials: GM
authors.lastname: Hadjigeorgiou
authors.forename: A
authors.initials: A
authors.lastname: Shtilbans
authors.forename: E
authors.initials: E
authors.lastname: Bonilla
authors.forename: S
authors.initials: S
authors.lastname: DiMauro
mesh_terms: D000328:Adult; D018388:Codon, Terminator; D003573:Cytochrome b Group / Q000235:genetics*; D004252:DNA Mutational Analysis; D003576:Electron Transport Complex IV / Q000032:analysis; D006801:Humans; D008297:Male; D018763:Muscle Fatigue / Q000235:genetics*; D018482:Muscle, Skeletal / Q000201:enzymology; D009212:Myoglobinuria / Q000235:genetics*; D005082:Physical Exertion; D017354:Point Mutation; D013385:Succinate Dehydrogenase / Q000032:analysis
chemical_list: D018388:Codon, Terminator; D003573:Cytochrome b Group; D013385:Succinate Dehydrogenase; D003576:Electron Transport Complex IV