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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 commonly encountered in patients with typical McArdle disease.

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PMID: 8071750
DOI: 10.1016/s0022-3476(05)83287-1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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