Clinical spectrum of McArdle disease: three cases with unusual expression

European Neurology
L Chiadò-PiatL Palmucci

Abstract

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.

Citations

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
Oct 23, 2003·Muscle & Nerve·Adrianne R WalkerKevin M Flanigan
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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