Acta Myol. 2007 Jul;26(1):53-7.

McArdle disease: molecular genetic update.

Andreu AL, Nogales-Gadea G, Cassandrini D, Arenas J, Bruno C.

Source

Dept. Patologia Mitocondrial i Neuromuscular, Centre d'Investigacions en Bioquímica i Biología Molecular (CIBBIM), Institut de Recerca Vall d'Hebron, Barcelona, Spain. aandreu@ir.vhebron.net

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.

PMID:: 17915571; [PubMed - indexed for MEDLINE]
PMCID: PMC2949323

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Publication Types, MeSH Terms, Substances, Secondary Source ID

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Glycogen Phosphorylase, Muscle Form

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