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.

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How to cite

1.
Ulgenalp A, Ozkinay F, Dirik E, et al. Deletion analysis and clinical correlations in patients with Xp21 linked muscular dystrophy. Turk J Pediatr 2004; 46: 333-338.