Clinical spectrum of McArdle disease: three cases with unusual expression

European Neurology
L Chiadò-PiatL Palmucci


Three cases of myophosphorylase deficiency with unusual clinical expression are presented. The 1st had clinical characteristics suggesting a mild congenital myopathy, and the patient never experienced cramps or myalgias. The 2nd had a slowly progressive myopathy without cramps or myoglobinuria which was detected by chance. The 3rd presented with myoglobinuria and acute renal failure, unrelated to a triggering effort, and with permanent weakness and wasting. In all cases, muscle biopsy demonstrated a vacuolar myopathy with free glycogen increase and absence of myophosphorylase activity, confirmed by biochemical assays. The cases confirm the wide clinical spectrum of McArdle disease.


Dec 22, 1999·Forensic Science International : Synergy·A FieguthW J Kleemann
Sep 28, 2007·European Journal of Pediatrics·Ali DelibaşAyşe Oner
Jun 22, 2000·Medical Hypotheses·W J van der Steen
Jun 2, 2007·Molecular Genetics and Metabolism·M HoeksmaF J van Spronsen
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Jan 8, 2000·São Paulo Medical Journal = Revista Paulista De Medicina·A M Martins
Aug 15, 1995·Biochimica Et Biophysica Acta·C BartramR J Beynon

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