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

@article{Minetti1993DystrophinopathyIT,
  title={Dystrophinopathy in two young boys with exercise-induced cramps and myoglobinuria},
  author={Carlo Minetti and K. Tanji and H. Chang and R. Medori and G. Cordone and S. DiMauro and Eduardo Pastrana Bonilla},
  journal={European Journal of Pediatrics},
  year={1993},
  volume={152},
  pages={848-851}
}
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… CONTINUE READING

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