Analysis of spectrum and frequencies of mutations in McArdle disease
Authors:
- 3 April 2007
- journal article
- research article
- Published by Springer Nature in Journal of Neurology
- Vol. 254 (6) , 797-802
Abstract
McArdle disease, a common metabolic myopathy with autosomal recessive inheritance, is caused by a frequent R50X mutation and many rare mutations in the myophosphorylase gene.Keywords
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