title: Mitochondrial DNA point mutation in the COI gene in a patient with McArdle's disease.
abstract: We studied a 57-year-old female patient with clinical and biochemical evidences of McArdle's disease. Her muscle biopsy also revealed signs of mitochondrial proliferation, scattered RRF, and a deficit in complex I of the respiratory chain. Molecular genetic analysis showed that the patient was heterozygous for the most common mutation at codon 49 in the myophosphorylase gene. Mitochondrial DNA analysis of muscle tissue revealed an additional G-to-A transition at nucleotide position 7444 in the cytochrome c oxidase subunit I (COI) gene.
authors.affiliation: Servicios de Inmunología, Hospital Universitario Virgen del Rocío, Avda Manuel Siurot s/n, 41013 Seville, Spain. maguiler@cica.es
authors.forename: I
authors.initials: I
authors.lastname: Aguilera
authors.forename: J R
authors.initials: JR
authors.lastname: García-Lozano
authors.forename: A
authors.initials: A
authors.lastname: Muñoz
authors.forename: J
authors.initials: J
authors.lastname: Arenas
authors.forename: Y
authors.initials: Y
authors.lastname: Campos
authors.forename: I
authors.initials: I
authors.lastname: Chinchón
authors.forename: A N
authors.initials: AN
authors.lastname: Roldán
authors.forename: J
authors.initials: J
authors.lastname: Bautista
mesh_terms: D003062:Codon / Q000235:genetics; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D042967:Electron Transport Complex I; D003576:Electron Transport Complex IV / Q000235:genetics*; D004734:Energy Metabolism / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D006003:Glycogen / Q000235:genetics / Q000378:metabolism; D024982:Glycogen Phosphorylase, Muscle Form / Q000172:deficiency / Q000235:genetics*; D006012:Glycogen Storage Disease Type V / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D006801:Humans; D008875:Middle Aged; D008931:Mitochondria, Muscle / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D018485:Muscle Fibers, Skeletal / Q000378:metabolism / Q000473:pathology; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D009247:NADH, NADPH Oxidoreductases / Q000172:deficiency / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*
chemical_list: D003062:Codon; D004272:DNA, Mitochondrial; D006003:Glycogen; D009247:NADH, NADPH Oxidoreductases; D003576:Electron Transport Complex IV; D024982:Glycogen Phosphorylase, Muscle Form; D042967:Electron Transport Complex I