title: Three new mutations in patients with myophosphorylase deficiency (McArdle disease).
abstract: We report three new mutations in patients with myophosphorylase deficiency (McArdle disease). A splice-junction mutation (G-to-A transition at the 5' end of intron 14) and a missense mutation (CTG to CCG at codon 291, changing an encoded leucine to a proline) were identified in Caucasian patients who were heterozygous for a common mutation reported elsewhere (CGA [Arg] to TGA [stop]) at codon 49. The splice-junction mutation destroyed the consensus sequence at the 5' splice site, and a cryptic splice site 67 bp upstream was recognized instead. As a result, there was a 67-bp deletion in the 3'-terminal region of exon 14 in the transcript, resulting in a frameshift with premature translation termination. A deletion of a single codon, 708/709 (TTC, specifying phenylalanine) was identified in Japanese patients. Two affected siblings were homozygotes, and their parents were heterozygotes. A third, unrelated patient was heterozygous for the same mutation, while the myophosphorylase gene on the other allele was only faintly expressed.
authors.affiliation: H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, Columbia-Presbyterian Medical Center, New York.
authors.forename: S
authors.initials: S
authors.lastname: Tsujino
authors.forename: S
authors.initials: S
authors.lastname: Shanske
authors.forename: I
authors.initials: I
authors.lastname: Nonaka
authors.forename: Y
authors.initials: Y
authors.lastname: Eto
authors.forename: J R
authors.initials: JR
authors.lastname: Mendell
authors.forename: G M
authors.initials: GM
authors.lastname: Fenichel
authors.forename: S
authors.initials: S
authors.lastname: DiMauro
mesh_terms: D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D003062:Codon; D004247:DNA; D005260:Female; D006012:Glycogen Storage Disease Type V / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D012326:RNA Splicing; D017384:Sequence Deletion
chemical_list: D003062:Codon; D004247:DNA