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• W1545780754 abstract "McArdle disease or Glycogenosis type V is an autosomal recessive metabolic disorder caused by a deficiency of the muscle isoform of glycogen phosphorylase (myophosphorylase, PYGM), the specific skeletal muscle enzyme that initiates glycogen breakdown. Since the first clinical description by Brian McArdle in 1951, several patients have been identified worldwide and significant advances have been made in the study of molecular genetics of the disease. Molecular heterogeneity has been demonstrated by the identification to date of more than 65 mutations in the PYGM gene." @default.
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• W1545780754 date "2007-07-01" @default.
• W1545780754 modified "2023-10-01" @default.
• W1545780754 title "McArdle disease: molecular genetic update." @default.
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• W1545780754 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/2949323" @default.
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