Deletion analysis and clinical correlations in patients with Xp21 linked muscular dystrophy
Makaleler > Tam Makale · 2004
Yazarlar: Ayfer Ülgenalp, Özlem Giray, Elçin Bora, Tülin Hızlı, Semra Kurul, Gül Sağın-Saylam, Hatice Karasoy, Nedret Uran, Gülşen Dizdarer, Sarenur Tütüncüoğlu, Eray Dirik, Feriştah Ferda ÖZKINAY, Derya Erçal
The Turkish Journal of Pediatrics, Uluslararası, Wos, 2004, cilt 46, ss 333-338
DOI: 10.24953/turkjpediatr.2004.2830
Özet
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.