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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

Title
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
Ewha Authors
조안나
SCOPUS Author ID
조안나scopus
Issue Date
2017
Journal Title
MUSCLE & NERVE
ISSN
0148-639XJCR Link1097-4598JCR Link
Citation
vol. 55, no. 5, pp. 727 - 734
Keywords
Becker muscular dystrophyDuchenne muscular dystrophydystrophinmutation spectrumpoint mutation
Publisher
WILEY
Indexed
SCI; SCIE; SCOPUS WOS scopus
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.
DOI
10.1002/mus.25396
Appears in Collections:
의과대학 > 의학과 > Journal papers
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