title: McArdle's disease: a rare frameshift mutation in exon 1 of the muscle glycogen phosphorylase gene.
abstract: We have previously discovered a common nonsense mutation in exon 1 of the myophosphosphorylase gene in patients with McArdle's disease, but this failed to explain all cases. We now report a second mutation (G-->TT) in one patient, also in exon 1. This mutation causes a shift in the reading frame which results in the replacement of Val15 by Phe. A further 10 amino acids of mis-sense protein are synthesised before a stop codon is reached.
authors.affiliation: Department of Biochemistry and Molecular Biology, UMIST, Manchester, UK.
authors.forename: C
authors.initials: C
authors.lastname: Bartram
authors.forename: R H
authors.initials: RH
authors.lastname: Edwards
authors.forename: J
authors.initials: J
authors.lastname: Clague
authors.forename: R J
authors.initials: RJ
authors.lastname: Beynon
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D005091:Exons; D016368:Frameshift Mutation; D006012:Glycogen Storage Disease Type V / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009132:Muscles / Q000201:enzymology*; D006005:Phosphorylases / Q000235:genetics*
chemical_list: D006005:Phosphorylases