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Updated: Jun 27, 2026

Tissue Triage and Freezing for Models of Skeletal Muscle Disease
Published on: July 15, 2014
Therapeutic options in other metabolic myopathies
1Department of Neurology, Ruhr-University Bochum, Kliniken Bergmannsheil, Bochum, Germany. matthias.vorgerd@rub.de
Abstract:
Adult patients with metabolic myopathies typically present with exercise-induced pain, cramps, fatigue, and myoglobinuria. The current therapeutic options of glycogen and lipid storage myopathies include dietary treatments, excersise training, and pharmacological supplementations. Herein is a review of evidence from randomized controlled trials in McArdle disease (glycogen storage disease type V, muscle phosphorylase deficiency) and carnitine palmitoyltransferase (CPT) 2 deficiency. A brief overview on current treatment options in rhabdomyolysis is also included because patients with McArdle disease and CPT 2 often experience such potentially life-threatening complications.
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