title: McArdle's disease associated with homozygosity for the missense mutation Gly204Ser of the myophosphorylase gene in a Spanish patient.
abstract: We studied a pateint whose clinical, morphological and biochemical findings were consistent with McArdle's disease. Molecular genetic studies revealed that the patient did not harbor the common Arg49Stop mutation and was homozygous for the Gly204Ser mutation. Until now, no patient having the missense mutation in the two alleles has been documented.
authors.affiliation: Centro de Investigación, Hospital 12 de Octubre, Madrid, Spain.
authors.forename: J C
authors.initials: JC
authors.lastname: Rubio
authors.forename: M A
authors.initials: MA
authors.lastname: Martín
authors.forename: A
authors.initials: A
authors.lastname: García
authors.forename: Y
authors.initials: Y
authors.lastname: Campos
authors.forename: A
authors.initials: A
authors.lastname: Cabello
authors.forename: J M
authors.initials: JM
authors.lastname: Culebras
authors.forename: J
authors.initials: J
authors.lastname: Arenas
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005998:Glycine / Q000235:genetics; D006012:Glycogen Storage Disease Type V / Q000201:enzymology / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D006005:Phosphorylases / Q000235:genetics*; D012694:Serine / Q000235:genetics; D013030:Spain
chemical_list: D012694:Serine; D004247:DNA; D006005:Phosphorylases; D005998:Glycine