2. Academic Validation
  3. Do carriers of PYGM mutations have symptoms of McArdle disease?

Do carriers of PYGM mutations have symptoms of McArdle disease?

  • Neurology. 2006 Aug 22;67(4):716-8. doi: 10.1212/01.wnl.0000230154.79933.d7.
Susanne Tvede Andersen 1,  Morten Dunø,  Marianne Schwartz,  John Vissing
Affiliations

Affiliation

  • 1 Neuromuscular Research Unit, Department of Neurology, Copenhagen Muscle Research Center, Denmark.
PMID: 16924035 DOI: 10.1212/01.wnl.0000230154.79933.d7
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.

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