Article
Deletion analysis and clinical correlations in patients with Xp21 linked muscular dystrophy.
The Turkish journal of pediatrics - 1 Jan 2000
Ulgenalp Ayfer, Giray Ozlem, Bora Elçin, Hizli Tülin, Kurul Semra, Sağin-Saylam Gül, Karasoy Hatice, Uran Nedret, Dizdarer Gülşen, Tütüncüoğlu Sarenur, Dirik Eray, Ozkinay Ferda, Erçal Derya
Abstract excerpt
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...
Topics
- Adolescent
- Adult
- Child
- Dystrophin
- Exons
- Family Health
- Gene Deletion
- Genotype
- Humans
- Introns
- Muscular Dystrophy, Duchenne
- Phenotype