Article
A novel compound heterozygous mutation in PYGM gene associated with McArdle's disease.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology - 1 Mar 2022
Iacono Salvatore, Lupica Antonino, Di Stefano Vincenzo, Borgione Eugenia, Brighina Filippo
Abstract excerpt
McArdle's disease is an autosomal recessive glycogenosis due to mutation in the myophosphorylase gene (PYGM) resulting in a pure myopathy. The clinical onset typically occurs in childhood with cramps, myalgia, and intolerance to physical exercise, although late onset forms are also reported. We describe a case of a 17-year-old male complaining of cramps and myalgia following brief and intense exercise. The...
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