Academic Journal
CONSECUTIVE ANALYSIS OF MUTATION SPECTRUM IN THE DYSTROPHIN GENE OF 507 KOREAN BOYS WITH DUCHENNE/BECKER MUSCULAR DYSTROPHY IN A SINGLE CENTER
| العنوان: | CONSECUTIVE ANALYSIS OF MUTATION SPECTRUM IN THE DYSTROPHIN GENE OF 507 KOREAN BOYS WITH DUCHENNE/BECKER MUSCULAR DYSTROPHY IN A SINGLE CENTER |
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| المؤلفون: | Cho, Anna, Seong, Moon-Woo, Lim, Byung Chan, Lee, Hwa Jeen, Byeon, Jung Hye, Kim, Seung Soo, Kim, Soo Yeon, Choi, Sun Ah, Wong, Ai-Lynn, Lee, Jeongho, Kim, Jon Soo, Ryu, Hye Won, Lee, Jin Sook, Kim, Hunmin, Hwang, Hee, Choi, Ji Eun, Kim, Ki Joong, Hwang, Young Seung, Hong, Ki Ho, Park, Seungman, Cho, Sung Im, Lee, Seung Jun, Park, Hyunwoong, Seo, Soo Hyun, Park, Sung Sup, Chae, Jong Hee |
| المساهمون: | Seong, Moon-Woo, Hwang, Hee, Choi, Ji Eun, Kim, Ki Joong, Hwang, Young Seung, Park, Sung Sup, Chae, Jong Hee |
| بيانات النشر: | John Wiley & Sons Inc. |
| سنة النشر: | 2018 |
| المجموعة: | Seoul National University: S-Space |
| مصطلحات موضوعية: | DEPENDENT PROBE AMPLIFICATION, FEMALE CARRIERS, DIAGNOSIS, DRISAPERSEN, SURVIVAL, DATABASE, SAFETY, Becker muscular dystrophy, Duchenne muscular dystrophy, dystrophin, mutation spectrum, point mutation |
| الوصف: | 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. ; N ; 1 |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | unknown |
| تدمد: | 0148-639X |
| Relation: | Muscle and Nerve, Vol.55 No.5, pp.727-734; https://hdl.handle.net/10371/191317; 000399708900020; 2-s2.0-85017508414; 48100 |
| DOI: | 10.1002/mus.25396 |
| الاتاحة: | https://hdl.handle.net/10371/191317 https://doi.org/10.1002/mus.25396 |
| رقم الانضمام: | edsbas.791C975A |
| قاعدة البيانات: | BASE |
| تدمد: | 0148639X |
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| DOI: | 10.1002/mus.25396 |