title: McArdle disease: molecular genetic update.
abstract: McArdle disease or Glycogenosis type V is an autosomal recessive metabolic disorder caused by a deficiency of the muscle isoform of glycogen phosphorylase (myophosphorylase, PYGM), the specific skeletal muscle enzyme that initiates glycogen breakdown. Since the first clinical description by Brian McArdle in 1951, several patients have been identified worldwide and significant advances have been made in the study of molecular genetics of the disease. Molecular heterogeneity has been demonstrated by the identification to date of more than 65 mutations in the PYGM gene.
authors.affiliation: Dept. Patologia Mitocondrial i Neuromuscular, Centre d'Investigacions en Bioquímica i Biología Molecular (CIBBIM), Institut de Recerca Vall d'Hebron, Barcelona, Spain. aandreu@ir.vhebron.net
authors.forename: A L
authors.initials: AL
authors.lastname: Andreu
authors.forename: G
authors.initials: G
authors.lastname: Nogales-Gadea
authors.forename: D
authors.initials: D
authors.lastname: Cassandrini
authors.forename: J
authors.initials: J
authors.lastname: Arenas
authors.forename: C
authors.initials: C
authors.lastname: Bruno
mesh_terms: D024982:Glycogen Phosphorylase, Muscle Form / Q000235:genetics*; D006012:Glycogen Storage Disease Type V / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D006801:Humans; D018482:Muscle, Skeletal / Q000201:enzymology / Q000473:pathology; D009154:Mutation; D020641:Polymorphism, Single Nucleotide
chemical_list: D024982:Glycogen Phosphorylase, Muscle Form