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Controlled Clinical Trial
. 2006 Aug 22;67(4):716-8.
doi: 10.1212/01.wnl.0000230154.79933.d7.

Do carriers of PYGM mutations have symptoms of McArdle disease?

Susanne Tvede Andersen  1 , Morten Dunø, Marianne Schwartz, John Vissing
Affiliations
Controlled Clinical Trial

Do carriers of PYGM mutations have symptoms of McArdle disease?

Susanne Tvede Andersen et al. Neurology. .

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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