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


ULGENALP A., GIRAY O., BORA E., HIZLI T., KURUL S. , SAGIN-SAYLAM G., ...More

TURKISH JOURNAL OF PEDIATRICS, vol.46, no.4, pp.333-338, 2004 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 46 Issue: 4
  • Publication Date: 2004
  • Title of Journal : TURKISH JOURNAL OF PEDIATRICS
  • Page Numbers: pp.333-338

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.