Metabolic and Mitochondrial Myopathies

Sep 2, 2016 by in NEUROLOGY Comments Off on Metabolic and Mitochondrial Myopathies

McArdle disease, an autosomal recessive myophosphorylase deficiency leading to glycolytic defects, is the common glycogen storage disease (GSD). Other glycolytic defects—phosphofructokinase, phosphoglycerate mutase, and lactic dehydrogenase deficiencies—produce similar clinical pictures….

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