title: McArdle's disease: a nonsense mutation in exon 1 of the muscle glycogen phosphorylase gene explains some but not all cases.
abstract: McArdle's disease is an inherited disease that results from a lack of functional muscle glycogen phosphorylase. We report here the identification of a C to T transition in exon 1 of the muscle phosphorylase gene found in all patients studied. This base pair mutation results in the substitution of a stop codon (TGA) for the codon (CGA) for Arg49 in the mature protein, and generates a novel restriction site for NlaIII. Of sixteen McArdle's patients, ten are homozygous for this mutation; the remainder are heterozygous. Additional unidentified mutations must lead to the McArdle's phenotype in the latter group of patients.
authors.affiliation: Department of Biochemistry, University of Liverpool, 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: D001483:Base Sequence; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D003062:Codon / Q000235:genetics; D017931:DNA Primers; D005091:Exons; D006580:Genetic Carrier Screening; D006012:Glycogen Storage Disease Type V / Q000201:enzymology* / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009132:Muscles / Q000201:enzymology; D010641:Phenotype; D006005:Phosphorylases / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger / Q000032:analysis; D015183:Restriction Mapping
chemical_list: D003062:Codon; D017931:DNA Primers; D012333:RNA, Messenger; D006005:Phosphorylases