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CONSECUTIVE ANALYSIS OF MUTATION SPECTRUM IN THE DYSTROPHIN GENE OF 507 KOREAN BOYS WITH DUCHENNE/BECKER MUSCULAR DYSTROPHY IN A SINGLE CENTER

Authors
Cho, AnnaSeong, Moon-WooLim, Byung ChanLee, Hwa JeenByeon, Jung HyeKim, Seung SooKim, Soo YeonChoi, Sun AhWong, Ai-LynnLee, JeonghoKim, Jon SooRyu, Hye WonLee, Jin SookKim, HunminHwang, HeeChoi, Ji EunKim, Ki JoongHwang, Young SeungHong, Ki HoPark, SeungmanCho, Sung ImLee, Seung JunPark, HyunwoongSeo, Soo HyunPark, Sung SupChae, Jong Hee
Issue Date
5월-2017
Publisher
WILEY
Keywords
Becker muscular dystrophy; Duchenne muscular dystrophy; dystrophin; mutation spectrum; point mutation
Citation
MUSCLE & NERVE, v.55, no.5, pp.727 - 734
Indexed
SCIE
SCOPUS
Journal Title
MUSCLE & NERVE
Volume
55
Number
5
Start Page
727
End Page
734
URI
https://scholar.korea.ac.kr/handle/2021.sw.korea/83688
DOI
10.1002/mus.25396
ISSN
0148-639X
Abstract
Introduction: Duchenne and Becker muscular dystrophies (DMD and BMD) are allelic X-linked recessive muscle diseases caused by mutations in the large and complex dystrophin gene. Methods: We analyzed the dystrophin gene in 507 Korean DMD/BMD patients by multiple ligation-dependent probe amplification and direct sequencing. Results: Overall, 117 different deletions, 48 duplications, and 90 pathogenic sequence variations, including 30 novel variations, were identified. Deletions and duplications accounted for 65.4% and 13.3% of Korean dystrophinopathy, respectively, suggesting that the incidence of large rearrangements in dystrophin is similar among different ethnic groups. We also detected sequence variations in >100 probands. The small variations were dispersed across the whole gene, and 12.3% were nonsense mutations. Conclusions: Precise genetic characterization in patients with DMD/BMD is timely and important for implementing nationwide registration systems and future molecular therapeutic trials in Korea and globally.
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