Hyperckemia as the only sign of McArdle's disease in a child

Claudio Bruno, Enrico Bertini, Filippo M. Santorelli, Salvatore DiMauro

Research output: Contribution to journalArticlepeer-review


An asymptomatic 13-year-old boy, who never complained of exercise intolerance or myalgia, was found to have markedly elevated serum creatine kinase (CK) levels during a routine check-up. General physical and neurologic examinations were normal. Surprisingly, histochemical and biochemical analysis of muscle showed myophosphorylase deficiency and genetic analysis showed that the patient was homozygous for the most common mutation encountered in McArdle's disease (R49X). This case illustrates the fuzzy correlation between molecular defect and clinical phenotype in patients with McArdle's disease, and suggests that a thorough study of the muscle biopsy is important in patients with idiopathic hyperCKemia for correct diagnosis and careful follow-up.

Original languageEnglish
Pages (from-to)137-138
Number of pages2
JournalJournal of Child Neurology
Issue number2
Publication statusPublished - Feb 2000

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health


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