Current Neurology and Neuroscience Reports

, Volume 7, Issue 1, pp 84–92

Molecular genetics of McArdle’s disease


DOI: 10.1007/s11910-007-0026-2

Cite this article as:
Nogales-Gadea, G., Arenas, J. & Andreu, A.L. Curr Neurol Neurosci Rep (2007) 7: 84. doi:10.1007/s11910-007-0026-2


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.

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

Personalised recommendations