Dystrophin-positive myotubes in innervated muscle cultures from Duchenne and Becker muscular dystrophy patients

Neuromuscul Disord. 1993 Mar;3(2):119-27. doi: 10.1016/0960-8966(93)90003-3.

Abstract

Nerve-muscle co-cultures from five Duchenne muscular dystrophy (DMD) patients and one Becker (BMD) patient, were studied by immunocytochemistry with antibodies against different portions of dystrophin. Four DMD patients had a deletion in the dystrophin gene. Some dystrophin-positive myotubes were detected in a few samples of all DMD cases. PCR amplification of exon 8 of the dystrophin gene ruled out a contamination from rat spinal cord during innervation. Our results in three DMD cases, may be explained by a clonal selection of dystrophin-positive fibers observed in muscle biopsies, while in the other two cases, a "frame-restoring" mutation might account for the presence of dystrophin-positive myotubes. The possible expression of "dystrophin-related protein" or dystrophin immature isoform was considered. In the BMD case an abnormal truncated dystrophin was found in innervated muscle cultures, as well as in muscle biopsy.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Animals
  • Biopsy
  • Cells, Cultured
  • Child
  • Child, Preschool
  • Dystrophin / analysis*
  • Humans
  • Infant
  • Muscular Dystrophies / metabolism*
  • Muscular Dystrophies / pathology
  • Neuromuscular Junction / chemistry*
  • Rats
  • Reference Values

Substances

  • Dystrophin

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