title: Do carriers of PYGM mutations have symptoms of McArdle disease?
abstract: The authors investigated whether carriers of single myophosphorylase gene (PYGM) mutations have symptoms of McArdle disease. They studied the oxidative capacity and lactate responses to maximal cycle exercise in eight patients with McArdle disease, seven single PYGM mutation carriers, and 11 healthy subjects. Heterozygotes had maximal oxidative capacity and peak lactate responses identical to control subjects. Thus, carriers of single PYGM mutations are not prone to develop symptoms of McArdle disease.
authors.affiliation: Neuromuscular Research Unit, Department of Neurology, Copenhagen Muscle Research Center, Denmark.
authors.forename: Susanne Tvede
authors.initials: ST
authors.lastname: Andersen
authors.forename: Morten
authors.initials: M
authors.lastname: Dunø
authors.forename: Marianne
authors.initials: M
authors.lastname: Schwartz
authors.forename: John
authors.initials: J
authors.lastname: Vissing
mesh_terms: D000328:Adult; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006012:Glycogen Storage Disease Type V / Q000175:diagnosis* / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008875:Middle Aged; D011379:Prognosis; D018570:Risk Assessment / Q000379:methods; D012307:Risk Factors