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Diagnosis and management of metabolic myopathies

25 May 2023

Abstract excerpt

Metabolic myopathies are a set of rare inborn errors of metabolism leading to disruption in energy production. Relevant to skeletal muscle, glycogen storage disease and fatty acid oxidation defects can lead to exercise intolerance, rhabdomyolysis, and weakness in children and adults, distinct from the severe forms that involve multiple-organ systems. These nonspecific, dynamic symptoms along with conditions that...

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Share to Glycogen Storage Diseases and Myoclonus
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PMID: 37226557
DOI: 10.1002/mus.27840

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