title: Myophosphorylase deficiency: an unusually severe form with myoglobinuria.
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.
authors.affiliation: Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas.
authors.forename: K
authors.initials: K
authors.lastname: Kristjánsson
authors.forename: S
authors.initials: S
authors.lastname: Tsujino
authors.forename: S
authors.initials: S
authors.lastname: DiMauro
mesh_terms: D002648:Child; D017079:Exercise Tolerance; D006720:Homozygote; D006801:Humans; D008297:Male; D009135:Muscular Diseases / Q000209:etiology; D009154:Mutation / Q000235:genetics; D009212:Myoglobinuria / Q000209:etiology*; D010146:Pain / Q000209:etiology; D006005:Phosphorylases / Q000172:deficiency* / Q000235:genetics; D005082:Physical Exertion / Q000502:physiology
chemical_list: D006005:Phosphorylases