The Turkish Journal of Pediatrics 2004 , Vol 46 , Num 4
Deletion analysis and clinical correlations in patients with Xp21 linked muscular dystrophy

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

Ülgenalp A, Giray Ö, Bora E, Hızlı T, Kurul S, Sağın-Saylam G, Karasoy H, Uran N, Dizdarer G, Tütüncüoğlu S, Dirik E, Özkınay F, Erçal D. Deletion analysis and clinical correlations in patients with Xp21 linked muscular dystrophy. Turk J Pediatr 2004; 46: 333-338.

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.

Keywords : dystrophinopathy deletion analysis clinical correlation gene promoter mutation.
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