Curr Neurol Neurosci Rep. 2007 Jan;7(1):84-92.

Molecular genetics of McArdle's disease.

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Dept Patologia Mitocondrial i Neuromuscular, Centre d'Investigacions en Bioguimica y Bioloqía Molecular, Institut de Recera Vall d'Hebron, Barcelona, Spain.

Abstract

This review highlights recent advances in our understanding of McArdle's disease, including the mechanisms involved in the regulation of the clinical phenotype. The latest molecular genetic studies have demonstrated the genetic heterogeneity of the disorder, with more than 65 mutations identified to date. There is not a specific treatment for McArdle's disease, but some nutritional treatments in combination with aerobic conditioning could improve the quality of life in most patients.

PMID:: 17217859; [PubMed - indexed for MEDLINE]

Publication Types, MeSH Terms, Substances

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MeSH Terms

Substances

Glycogen Phosphorylase, Muscle Form

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Cited by 1 PubMed Central article

Expression of glycogen phosphorylase isoforms in cultured muscle from patients with McArdle's disease carrying the p.R771PfsX33 PYGM mutation. [PLoS One. 2010]
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