Article
Do carriers of PYGM mutations have symptoms of McArdle disease?
Neurology - 22 Aug 2006
Andersen Susanne Tvede, Dunø Morten, Schwartz Marianne, Vissing John
Abstract excerpt
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....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.