An asymptomatic 13-year-old boy, who never complained of exercise intoleran
ce or myalgia, was found to have markedly elevated serum creatine kinase (C
K) levels during a routine check-up. General physical and neurologic examin
ations 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 McA
rdle'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 pa
tients with idiopathic hyperCKemia for correct diagnosis and careful follow
-up.