Knock-in mice for the R50X mutation in the PYGM gene present with McArdle disease.

Abstract excerpt

McArdle disease (glycogenosis type V), the most common muscle glycogenosis, is a recessive disorder caused by mutations in PYGM, the gene encoding myophosphorylase. Patients with McArdle disease typically experience exercise intolerance manifested as acute crises of early fatigue and contractures, sometimes with rhabdomyolysis and myoblobinuria, triggered by static muscle contractions or dynamic exercises....

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Creatine Kinase
• Share to Gene Knock-In Techniques