title: A missense mutation W797R in the myophosphorylase gene in a Spanish patient with McArdle's disease.
abstract: We identified a novel missense mutation in the myophosphorylase gene (PYGM) in a Spanish patient with McArdle's disease. This homozygous T-to-C transition results in the replacement of a highly conserved tryptophan at amino acid position (aa) 797 with an arginine in the C-terminal domain of the PYGM protein. The lack of enzyme activity in the proband's muscle is consistent with a crucial role of the aa 797 in the normal function of the PYGM protein. Our data further expand the genetic heterogeneity in patients with McArdle's disease.
authors.affiliation: Centro de Investigación, Hospital "12 de Octubre," Avda de Córdoba Km 5.4, 28041 Madrid, Spain.
authors.forename: J C
authors.initials: JC
authors.lastname: Rubio
authors.forename: M A
authors.initials: MA
authors.lastname: Martín
authors.forename: Y
authors.initials: Y
authors.lastname: Campos
authors.forename: R
authors.initials: R
authors.lastname: Auciello
authors.forename: A
authors.initials: A
authors.lastname: Cabello
authors.forename: J
authors.initials: J
authors.lastname: Arenas
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D004247:DNA / Q000235:genetics; D005091:Exons; D006012:Glycogen Storage Disease Type V / Q000201:enzymology* / Q000235:genetics*; D006801:Humans; D008297:Male; D018763:Muscle Fatigue / Q000235:genetics; D018482:Muscle, Skeletal / Q000201:enzymology; D020125:Mutation, Missense / Q000235:genetics*; D006005:Phosphorylases / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D004247:DNA; D006005:Phosphorylases