Deletion analysis and clinical correlations in patients with Xp21 linked muscular dystrophy

Turk J Pediatr. 2004 Oct-Dec;46(4):333-8.

Abstract

We carried out molecular deletion analysis on 142 patients with Duchenne/Becker muscular dystrophy which covered 25 exons of the dystrophin gene. We also evaluated the results by comparing with the clinical findings and examples in the literature. A deletion ratio of 63.7% was achieved. Exon 46 was the most frequently affected region. Interestingly we also observed four cases with muscle promoter (Mp) region deletions which have been rarely reported in the literature.

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Dystrophin / genetics*
  • Exons / genetics
  • Family Health
  • Gene Deletion*
  • Genotype
  • Humans
  • Introns / genetics
  • Muscular Dystrophy, Duchenne / genetics*
  • Muscular Dystrophy, Duchenne / pathology
  • Phenotype

Substances

  • Dystrophin