title: Deletion analysis and clinical correlations in patients with Xp21 linked muscular dystrophy.
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.
authors.affiliation: Department of Pediatrics, Dokuz Eylül University Faculty of Medicine, Izmir, Turkey.
authors.forename: Ayfer
authors.initials: A
authors.lastname: Ulgenalp
authors.forename: Ozlem
authors.initials: O
authors.lastname: Giray
authors.forename: Elçin
authors.initials: E
authors.lastname: Bora
authors.forename: Tülin
authors.initials: T
authors.lastname: Hizli
authors.forename: Semra
authors.initials: S
authors.lastname: Kurul
authors.forename: Gül
authors.initials: G
authors.lastname: Sağin-Saylam
authors.forename: Hatice
authors.initials: H
authors.lastname: Karasoy
authors.forename: Nedret
authors.initials: N
authors.lastname: Uran
authors.forename: Gülşen
authors.initials: G
authors.lastname: Dizdarer
authors.forename: Sarenur
authors.initials: S
authors.lastname: Tütüncüoğlu
authors.forename: Eray
authors.initials: E
authors.lastname: Dirik
authors.forename: Ferda
authors.initials: F
authors.lastname: Ozkinay
authors.forename: Derya
authors.initials: D
authors.lastname: Erçal
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D016189:Dystrophin / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005192:Family Health; D017353:Gene Deletion; D005838:Genotype; D006801:Humans; D007438:Introns / Q000235:genetics; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics* / Q000473:pathology; D010641:Phenotype
chemical_list: D016189:Dystrophin