This gene encodes a muscle enzyme involved in glycogenolysis. Highly similar enzymes encoded by different genes are found in liver and brain. Mutations in this gene are associated with McArdle disease (myophosphorylase deficiency), a glycogen storage disease of muscle. Alternative splicing results in multiple transcript variants
Immunogen
PYGM (NP_005600.1, 734 a.a. ~ 842 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.
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We report the clinical, biochemical, and molecular findings in a Cypriot family with minimally symptomatic McArdle disease. Myophosphorylase in muscle was assessed by histochemistry, quantitative spectrophotometry, and western blot analysis. Mutation identification was performed by PCR amplification of all PYGM
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