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

Ulgenalp A., Giray Ö., Bora E., Hizli T., Kurul S., Sagin-Saylam G., ...More

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

  • Publication Type: Article / Article
  • Volume: 46 Issue: 4
  • Publication Date: 2004
  • Journal Name: TURKISH JOURNAL OF PEDIATRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.333-338
  • Keywords: dystrophinopathy, deletion analysis, clinical correlation, gene promoter mutation, MOLECULAR CHARACTERIZATION, DILATED CARDIOMYOPATHY, TURKISH DUCHENNE, GENE DELETIONS, DNA ANALYSIS, DIAGNOSIS, TRANSLOCATION, PATTERNS, FAMILIES, PROMOTER
  • Dokuz Eylül University Affiliated: Yes

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.