title: Two novel mutations in the myophosphorylase gene in a patient with McArdle disease.
abstract: We identified two novel mutations in exon 2 of the myophosphorylase gene in a 33-year-old German women with McArdle disease. The patient was compound heterozygous for a novel nonsense mutation at codon 84 changing tyrosine to stop codon (Y84X) and for a novel missense mutation at codon 93 changing arginine to tryptophan (R93W). These mutations are the first to be described in exon 2 and expand the genetic heterogeneity in patients with McArdle disease.
authors.affiliation: Department of Neurology, Martin-Luther-Universität Halle-Wittenberg, Ernst-Grube-Str. 40, 06097 Halle/Saale, Germany. marcus.deschauer@medizin.uni-halle.de
authors.forename: Marcus
authors.initials: M
authors.lastname: Deschauer
authors.forename: Kathrin
authors.initials: K
authors.lastname: Hertel
authors.forename: Stephan
authors.initials: S
authors.lastname: Zierz
mesh_terms: D000328:Adult; D018389:Codon, Nonsense; D018388:Codon, Terminator / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D024982:Glycogen Phosphorylase, Muscle Form / Q000235:genetics*; D006012:Glycogen Storage Disease Type V / Q000235:genetics*; D006801:Humans; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D018389:Codon, Nonsense; D018388:Codon, Terminator; D024982:Glycogen Phosphorylase, Muscle Form