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Myophosphorylase deficiency: an unusually severe form with myoglobinuria
K Kristjánsson1, S Tsujino, S DiMauro
1Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas.
The Journal of Pediatrics
|September 1, 1994
Abstract:
Myophosphorylase deficiency (McArdle disease) is characterized by exercise intolerance that usually starts in childhood. Severe cramps and myoglobinuria are rarely problems in children. We describe an 8-year-old boy with exercise-induced myoglobinuria; he was homozygous for the mutation most commonly encountered in patients with typical McArdle disease.