Article
McArdle disease: a clinical review.
Journal of neurology, neurosurgery, and psychiatry - 1 Nov 2010
Quinlivan R, Buckley J, James M, Twist A, Ball S, Duno M, Vissing J, Bruno C, Cassandrini D, Roberts M, Winer J, Rose M, Sewry C
Abstract excerpt
METHODS: The clinical phenotype of 45 genetically confirmed McArdle patients is described. RESULTS: In the majority of patients (84%), the onset of symptoms was from early childhood but diagnosis was frequently delayed until after 30 years of age. Not all patients could recognise a second wind although it was always seen with exercise assessment. A history of myoglobinuria was not universal and episodes of acute...
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