Dystrophin-positive fibers in Duchenne dystrophy: origin and correlation to clinical course

Muscle Nerve. 1995 Oct;18(10):1115-20. doi: 10.1002/mus.880181007.

Abstract

In 132 DMD muscle biopsies we investigated the presence of dystrophin-positive fibers and the relationship of dystrophin immunohistochemical pattern to the clinical severity of the disease. Reverted fibers were detected in 37% of patients; their prevalence increased significantly in each biopsy with age of patients. We suggest that reversion occurs in satellite cells, when muscle differentiation is completed. The longitudinal extent of dystrophin-positive domain spans a maximum length of 900 microns. No correlation was found between the presence of reverted fibers and the clinical severity of DMD, whereas a milder form of Duchenne dystrophy was observed in patients showing a faint reaction in all fibers. The occurrence of reverted fibers is independent of the type of gene mutation; however, a higher proportion of cases with reverted fibers was found among patients with gene duplications.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biopsy
  • Child
  • Child, Preschool
  • DNA, Complementary
  • Dystrophin / genetics
  • Dystrophin / metabolism*
  • Dystrophin / ultrastructure
  • Humans
  • Immunohistochemistry
  • Models, Genetic
  • Muscle Fibers, Skeletal / immunology
  • Muscle Fibers, Skeletal / metabolism*
  • Muscle Fibers, Skeletal / pathology
  • Muscular Dystrophies / genetics
  • Muscular Dystrophies / metabolism*
  • Muscular Dystrophies / pathology
  • Mutation
  • Severity of Illness Index
  • Time Factors

Substances

  • DNA, Complementary
  • Dystrophin

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