Myophosphorylase deficiency: an unusually severe form with myoglobinuria.

doi:10.1016/s0022-3476(05)83287-1

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Article

Myophosphorylase deficiency: an unusually severe form with myoglobinuria.

The Journal of pediatrics - 1 Sept 1994

Kristjánsson K, Tsujino S, DiMauro S

Abstract excerpt

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 comm...

Topics

Child
Exercise Tolerance
Homozygote
Humans
Male
Muscular Diseases
Mutation
Myoglobinuria
Pain
Phosphorylases
Physical Exertion

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