title: A homozygous missense mutation (A659D) 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 C-to-A mutation results in the replacement of a highly conserved alanine at amino acid position 659 with an aspartic acid in the C-terminal domain of the myophosphorylase gene protein, near binding sites for pyridoxal phosphate and glucose. Our data further expand the genetic heterogeneity in patients with McArdle's disease.
authors.affiliation: Centro de Investigación, Hospital Universitario 12 de Octubre, Avda Córdoba km 5.4, 28041, Madrid, Spain.
authors.forename: M A
authors.initials: MA
authors.lastname: Martín
authors.forename: J C
authors.initials: JC
authors.lastname: Rubio
authors.forename: Y
authors.initials: Y
authors.lastname: Campos
authors.forename: J R
authors.initials: JR
authors.lastname: Ricoy
authors.forename: A
authors.initials: A
authors.lastname: Cabello
authors.forename: J
authors.initials: J
authors.lastname: Arenas
mesh_terms: D000328:Adult; D001665:Binding Sites / Q000235:genetics; D001706:Biopsy; D017124:Conserved Sequence; D004252:DNA Mutational Analysis; D006012:Glycogen Storage Disease Type V / Q000175:diagnosis* / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000201:enzymology / Q000473:pathology; D020125:Mutation, Missense / Q000235:genetics*; D006005:Phosphorylases / Q000235:genetics* / Q000378:metabolism; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D013030:Spain
chemical_list: D006005:Phosphorylases