Dystrophinopathy in two young boys with exercise-induced cramps and myoglobinuria

C. Minetti, K. Tanji, H. W. Chang, R. Medori, G. Cordone, S. DiMauro, E. Bonilla

Research output: Contribution to journalArticle

Abstract

Two young boys were referred for evaluation of metabolic myopathy because of elevated serum levels of creatine kinase, cramps and pigmenturia. Immunohistochemical studies of dystrophin in muscle biopsies showed reduced intensity of the stain with a patchy and discontinous pattern in most fibers. In both patients dystrophin was undetectable by immunoblotting. DNA analysis of the dystrophin gene was not informative in one patient; in the other it revealed an in-frame deletion comprising exons 3-6. These observations suggest that the two patients are affected with an unusual phenotype of Becker muscular dystrophy. Dystrophin analysis should be included in the evaluation of patients with childhood-onset of recurrent myoglobinuria.

Original languageEnglish
Pages (from-to)848-851
Number of pages4
JournalEuropean Journal of Pediatrics
Volume152
Issue number10
DOIs
Publication statusPublished - Oct 1993

Keywords

  • Becker muscular dystrophy
  • Dystrophinopathy
  • Myoglobinuria

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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    Minetti, C., Tanji, K., Chang, H. W., Medori, R., Cordone, G., DiMauro, S., & Bonilla, E. (1993). Dystrophinopathy in two young boys with exercise-induced cramps and myoglobinuria. European Journal of Pediatrics, 152(10), 848-851. https://doi.org/10.1007/BF02073385