[Deletions within the gene of dystrophin in Duchenne and Becker muscular dystrophy]

Neurol Neurochir Pol. 1993 Jul-Aug;27(4):469-78.
[Article in Polish]

Abstract

DNA was isolated and analysed in 96 patients with Duchenne or Becker muscular dystrophy (DMD, BMD); 9 of them were affected with BMD. Delections were found in 60 Patients (62.5%) using six cDNA probes. In some cases the PCR technique was also applied. In patients with BMD all deletions but one were in frame and involved exons 45-54. On the contrary, most deletions in DMD were out of frame and varied in their location. In five families prenatal diagnosis was carried out.

Publication types

  • English Abstract

MeSH terms

  • Chromosomes, Human, Pair 21
  • Dystrophin / genetics*
  • Dystrophin / isolation & purification
  • Exons / genetics
  • Female
  • Gene Deletion*
  • Humans
  • Male
  • Muscular Dystrophies / diagnosis
  • Muscular Dystrophies / enzymology
  • Muscular Dystrophies / genetics*
  • Prenatal Diagnosis
  • X Chromosome

Substances

  • Dystrophin