title: A new mutation in the myophosphorylase gene (Asn684Tyr) in a Spanish patient with McArdle's disease.
abstract: We have identified a novel missense mutation, an A-T transition at codon 684 in exon 17, changing an encoded asparagine to a tyrosine (Asn684Tyr) in a Spanish patient with typical McArdle's disease. The patient was a compound heterozygote, with a previously-described mutation (Gly204Ser) on the other allele. This report expands the molecular genetic heterogeneity in McArdle's disease, emphasizes the presence of private mutations in specific ethnic groups, and indicates that geographic origin must be considered before undertaking DNA analysis for diagnosis.
authors.affiliation: H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, College of Physicians and Surgeons, New York, NY 10032, USA.
authors.forename: A L
authors.initials: AL
authors.lastname: Andreu
authors.forename: C
authors.initials: C
authors.lastname: Bruno
authors.forename: L
authors.initials: L
authors.lastname: Tamburino
authors.forename: J
authors.initials: J
authors.lastname: Gamez
authors.forename: S
authors.initials: S
authors.lastname: Shanske
authors.forename: C
authors.initials: C
authors.lastname: Cervera
authors.forename: C
authors.initials: C
authors.lastname: Navarro
authors.forename: S
authors.initials: S
authors.lastname: DiMauro
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D001216:Asparagine / Q000235:genetics; D001483:Base Sequence; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D006012:Glycogen Storage Disease Type V / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D006005:Phosphorylases / Q000235:genetics*; D013030:Spain; D014443:Tyrosine / Q000235:genetics
chemical_list: D014443:Tyrosine; D001216:Asparagine; D004247:DNA; D006005:Phosphorylases