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Updated: Aug 5, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Do carriers of PYGM mutations have symptoms of McArdle disease?
Susanne Tvede Andersen1, Morten Dunø, Marianne Schwartz
1Neuromuscular Research Unit, Department of Neurology, Copenhagen Muscle Research Center, Denmark.
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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