Department of Pediatrics, Dokuz Eylül University Faculty of Medicine, İzmir, Turkey
Behçet Uz Children\'s Hospital, İzmir, Turkey
Departments of Neurology, İzmir, Turkey
Social Security Tepecik Teaching Hospital, İzmir, Turkey
Departments of Pediatrics, Ege University Faculty of Medicine, İzmir, Turkey
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.