Maladie de McArdle (glycogénose de type V)Â : étude clinique, biochimique et génétique d'une cohorte de cinq patients français

Our patients had typical clinical and laboratory features of McArdle disease. Diagnosis was suggested by exercise intolerance with high CK levels. The R50X mutation was the most common (60% of the mutated alleles). We found no relationship between clinical severity, PYGM genotype and biochemistry analysis of muscle samples.