Myophosphorylase deficiency: an unusually severe form with myoglobinuria.
case_report · Level V
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- Record sourced from PubMed, PMID 8071750.
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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.
Medical subject headings
- Myoglobinuria
- Phosphorylases