Rev Med Suisse Romande
November 2002
Mc Ardle's disease is a genetic glycogenosis characterized by the accumulation of glycogen in skeletal muscle secondary to the deficiency of muscle glycogen phosphorylase. The clinical consequences are an exercise intolerance with rapid muscle fatigue and muscle pain combined with a myoglobinuria. We report the medical story of a 45 years old man who suffers from Mc Ardle disease for ten years.
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