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

Antonino Lupica, Filippo Brighina, Vincenzo Di Stefano, Eugenia Borgione, Salvatore Iacono

Risultato della ricerca: Articlepeer review


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.
Lingua originaleEnglish
pagine (da-a)37-40
Numero di pagine4
Stato di pubblicazionePublished - 2022

All Science Journal Classification (ASJC) codes

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