Molecular genetics of McArdle's disease

G Nogales-Gadea; J Arenas; A L Andreu

doi:10.1007/s11910-007-0026-2

Molecular genetics of McArdle's disease

Curr Neurol Neurosci Rep. 2007 Jan;7(1):84-92. doi: 10.1007/s11910-007-0026-2.

Authors

G Nogales-Gadea¹, J Arenas, A L Andreu

Affiliation

¹ Dept Patologia Mitocondrial i Neuromuscular, Centre d'Investigacions en Bioguimica y Bioloqía Molecular, Institut de Recera Vall d'Hebron, Barcelona, Spain.

PMID: 17217859
DOI: 10.1007/s11910-007-0026-2

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.

Publication types

Research Support, Non-U.S. Gov't
Review

MeSH terms

Glycogen Phosphorylase, Muscle Form / genetics*
Glycogen Storage Disease Type V / epidemiology
Glycogen Storage Disease Type V / genetics*
Humans
Molecular Biology / methods*
Mutation

Substances

Glycogen Phosphorylase, Muscle Form