Article
Analysis of spectrum and frequencies of mutations in McArdle disease. Identification of 13 novel mutations.
Journal of neurology - 1 Jun 2007
Deschauer M, Morgenroth A, Joshi P R, Gläser D, Chinnery P F, Aasly J, Schreiber H, Knape M, Zierz S, Vorgerd M
Abstract excerpt
BACKGROUND: 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. OBJECTIVES: To identify spectrum and frequencies of myophosphorylase gene mutations in a large cohort of patients with McArdle disease, to discuss diagnostic implications, and to analyse genotype-phenotype relationship. METHODS:...
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