McArdle disease: Molecular genetic update

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

Research output: Contribution to journalArticlepeer-review


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. In this paper, we will present an update on the mutations reported to date in the PYGM gene.

Original languageEnglish
Pages (from-to)53-57
Number of pages5
JournalActa Myologica
Issue number1
Publication statusPublished - Jul 2007


  • Glycogenosis type V
  • McArdle disease
  • PYGM gene

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine
  • Clinical Neurology


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