A novel compound heterozygous mutation in PYGM gene associated with McArdle's disease.

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 patient reported marked improvement in muscle fatigability few minutes after starting aerobic exercise. When he was a child, he had experienced few episodes of vomiting, nausea, and black colored urine following physical activity. Laboratory testings revealed high creatine kinase serum levels. Genetic testings for metabolic myopathies demonstrated a compound heterozygous for two PYGM mutations (p.R570Q and p.K754Nfs*49) allowing the diagnosis of McArdle's disease. To date, 183 mutations in the PYGM gene are listed in Human Gene Mutation Database Professional 2021.2, but this novel compound heterozygosis has never been reported before. ©2022 Gaetano Conte Academy - Mediterranean Society of Myology.