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

M. Fanin, E. P. Hoffman, F. A. Saad, A. Martinuzzi, G. A. Danieli, C. Angelini

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)119-127
Number of pages9
JournalNeuromuscular Disorders
Volume3
Issue number2
DOIs
Publication statusPublished - 1993

Keywords

  • Becker muscular dystrophy
  • Duchenne muscular dystrophy
  • Dystrophin
  • human muscle cultures
  • immunocytochemistry

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

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