Article
[McArdle disease (gycogenosis type V): analysis of clinical, biological and genetic features of five French patients].
Revue neurologique - 1 Nov 2008
Delmont E, Sacconi S, Berge-Lefranc J-L, Aquaron R, Butori C, Desnuelle C
Abstract excerpt
INTRODUCTION: McArdle disease (glycogenosis type V) is an autosomal recessive metabolic myopathy. Defect in glycogen breakdown is due to mutations of the gene for myophosphorylase (PYGM). Among patients of the department, we searched for correlations between disease phenotype, biochemistry analysis of muscle samples and PYGM genotype. METHODS: We included five patients whose muscle biopsy showed deposits of...
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