Deletion analysis and clinical correlations in patients with Xp21 linked muscular dystrophy.
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.
Ulgenalp
Ayfer
A
Department of Pediatrics, Dokuz Eylül University Faculty of Medicine, Izmir, Turkey.
Giray
Ozlem
O
Bora
Elçin
E
Hizli
Tülin
T
Kurul
Semra
S
Sağin-Saylam
Gül
G
Karasoy
Hatice
H
Uran
Nedret
N
Dizdarer
Gülşen
G
Tütüncüoğlu
Sarenur
S
Dirik
Eray
E
Ozkinay
Ferda
F
Erçal
Derya
D
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
D016189:Dystrophin