Current Neurology and Neuroscience Reports

, Volume 7, Issue 1, pp 84-92

First online:

Molecular genetics of McArdle’s disease

  • G. Nogales-Gadea
  • , J. Arenas
  • , A. L. AndreuAffiliated withDept. Patologia Mitocondrial i Neuromuscular, Centre d’Investigacions en Bioguimica y Bioloqía Molecular (CIBBM), Institut de Recerca Vall d’Hebron Email author 

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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.