Deletion analysis and clinical correlations in patients with Xp21 linked muscular dystrophy
Makaleler > Tam Makale · 2004
Yazarlar: A ULGENALP, O GIRAY, E BORA, T HIZLI, ŞEBNEM KURUL, G SAGIN-SAYLAM, HATİCE KARASOY, N URAN, G DIZDARER, S TUTUNCUOGLU, E DIRIK, Feriştah Ferda ÖZKINAY, D ERCAL
TURKISH JOURNAL OF PEDIATRICS, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2004, cilt 46, ss 333-338
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.