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

McArdle disease: molecular genetic update

A L Andreu  1 , G Nogales-Gadea, D Cassandrini, J Arenas, C Bruno
Affiliations
Review

McArdle disease: molecular genetic update

A L Andreu et al. Acta Myol. 2007 Jul.

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.

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References

    1. DiMauro S, Andreu AL, Bruno C, et al. Myophosphorylase Deficiency (Glycogenosis Type V; McArdle Disease). Curr Mol Med 2002;2:189-96. - PubMed
    1. Haller RG, Vissing J. Spontaneous “second wind” and glucose-induced second “second wind” in McArdle disease: oxidative mechanisms. Arch Neurol 2002;59:1395-402. - PubMed
    1. Tsujino S, Shanske S, Di Mauro S. Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle’s disease). N Engl J Med 1993;329:241-5. - PubMed
    1. Isackson PJ, Tarnopolsky M, Vladutiu GD. A novel mutation in the PYGM gene in a family with pseudo-dominant transmission of McArdle disease. Mol Genet Metab 2005;85:239-42. - PubMed
    1. DiMauro S, Tsujino S. Nonlysosomal glycogenoses. In: Engel AG, Franzini-Amstrong C, eds. Myology. New York: McGraw-Hill; 1995. p. 1554-76.

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