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Current Neurology and Neuroscience Reports

, Volume 7, Issue 1, pp 84–92 | Cite as

Molecular genetics of McArdle’s disease

  • G. Nogales-Gadea
  • J. Arenas
  • A. L. AndreuEmail author
Article

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.

Keywords

Aerobic Exercise Glycogen Storage Disease Creatine Monohydrate Spanish Patient Intronic Mutation 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Current Medicine Group LLC 2007

Authors and Affiliations

  1. 1.Dept. Patologia Mitocondrial i Neuromuscular, Centre d’Investigacions en Bioguimica y Bioloqía Molecular (CIBBM)Institut de Recerca Vall d’HebronBarcelonaSpain

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