Abstract
Myophosphorylase deficiency (McArdle's syndrome) is an uncommon conditon characterized by exercise intolerance, muscle cramps and myoglobinuria. The present report describes the clinical, histochemical, electronmicroscopic and biochemical findings in a 12-year-old boy with myophosphorylase deficiency. The diagnosis should have been suspected when the boy was 6 years old. Most index cases have not been diagnosed until adult life, but this syndrome has to be considered in the differential diagnosis of exercise intolerance in childhood.
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This study was supported by a grant from the Prinses Beatrix Fonds
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Sengers, R.C.A., Stadhouders, A.M., Jaspar, H.H.J. et al. Muscle phosphorylase deficiency in childhood. Eur J Pediatr 134, 161–165 (1980). https://doi.org/10.1007/BF01846039
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DOI: https://doi.org/10.1007/BF01846039