CONSECUTIVE ANALYSIS OF MUTATION SPECTRUM IN THE DYSTROPHIN GENE OF 507 KOREAN BOYS WITH DUCHENNE/BECKER MUSCULAR DYSTROPHY IN A SINGLE CENTER
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Cho, Anna | - |
dc.contributor.author | Seong, Moon-Woo | - |
dc.contributor.author | Lim, Byung Chan | - |
dc.contributor.author | Lee, Hwa Jeen | - |
dc.contributor.author | Byeon, Jung Hye | - |
dc.contributor.author | Kim, Seung Soo | - |
dc.contributor.author | Kim, Soo Yeon | - |
dc.contributor.author | Choi, Sun Ah | - |
dc.contributor.author | Wong, Ai-Lynn | - |
dc.contributor.author | Lee, Jeongho | - |
dc.contributor.author | Kim, Jon Soo | - |
dc.contributor.author | Ryu, Hye Won | - |
dc.contributor.author | Lee, Jin Sook | - |
dc.contributor.author | Kim, Hunmin | - |
dc.contributor.author | Hwang, Hee | - |
dc.contributor.author | Choi, Ji Eun | - |
dc.contributor.author | Kim, Ki Joong | - |
dc.contributor.author | Hwang, Young Seung | - |
dc.contributor.author | Hong, Ki Ho | - |
dc.contributor.author | Park, Seungman | - |
dc.contributor.author | Cho, Sung Im | - |
dc.contributor.author | Lee, Seung Jun | - |
dc.contributor.author | Park, Hyunwoong | - |
dc.contributor.author | Seo, Soo Hyun | - |
dc.contributor.author | Park, Sung Sup | - |
dc.contributor.author | Chae, Jong Hee | - |
dc.date.accessioned | 2021-09-03T06:58:38Z | - |
dc.date.available | 2021-09-03T06:58:38Z | - |
dc.date.created | 2021-06-16 | - |
dc.date.issued | 2017-05 | - |
dc.identifier.issn | 0148-639X | - |
dc.identifier.uri | https://scholar.korea.ac.kr/handle/2021.sw.korea/83688 | - |
dc.description.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. | - |
dc.language | English | - |
dc.language.iso | en | - |
dc.publisher | WILEY | - |
dc.subject | DEPENDENT PROBE AMPLIFICATION | - |
dc.subject | FEMALE CARRIERS | - |
dc.subject | DIAGNOSIS | - |
dc.subject | DRISAPERSEN | - |
dc.subject | SURVIVAL | - |
dc.subject | DATABASE | - |
dc.subject | SAFETY | - |
dc.title | CONSECUTIVE ANALYSIS OF MUTATION SPECTRUM IN THE DYSTROPHIN GENE OF 507 KOREAN BOYS WITH DUCHENNE/BECKER MUSCULAR DYSTROPHY IN A SINGLE CENTER | - |
dc.type | Article | - |
dc.contributor.affiliatedAuthor | Byeon, Jung Hye | - |
dc.identifier.doi | 10.1002/mus.25396 | - |
dc.identifier.scopusid | 2-s2.0-85017508414 | - |
dc.identifier.wosid | 000399708900020 | - |
dc.identifier.bibliographicCitation | MUSCLE & NERVE, v.55, no.5, pp.727 - 734 | - |
dc.relation.isPartOf | MUSCLE & NERVE | - |
dc.citation.title | MUSCLE & NERVE | - |
dc.citation.volume | 55 | - |
dc.citation.number | 5 | - |
dc.citation.startPage | 727 | - |
dc.citation.endPage | 734 | - |
dc.type.rims | ART | - |
dc.type.docType | Article | - |
dc.description.journalClass | 1 | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
dc.relation.journalResearchArea | Neurosciences & Neurology | - |
dc.relation.journalWebOfScienceCategory | Clinical Neurology | - |
dc.relation.journalWebOfScienceCategory | Neurosciences | - |
dc.subject.keywordPlus | DEPENDENT PROBE AMPLIFICATION | - |
dc.subject.keywordPlus | FEMALE CARRIERS | - |
dc.subject.keywordPlus | DIAGNOSIS | - |
dc.subject.keywordPlus | DRISAPERSEN | - |
dc.subject.keywordPlus | SURVIVAL | - |
dc.subject.keywordPlus | DATABASE | - |
dc.subject.keywordPlus | SAFETY | - |
dc.subject.keywordAuthor | Becker muscular dystrophy | - |
dc.subject.keywordAuthor | Duchenne muscular dystrophy | - |
dc.subject.keywordAuthor | dystrophin | - |
dc.subject.keywordAuthor | mutation spectrum | - |
dc.subject.keywordAuthor | point mutation | - |
Items in ScholarWorks are protected by copyright, with all rights reserved, unless otherwise indicated.
(02841) 서울특별시 성북구 안암로 14502-3290-1114
COPYRIGHT © 2021 Korea University. All Rights Reserved.
Certain data included herein are derived from the © Web of Science of Clarivate Analytics. All rights reserved.
You may not copy or re-distribute this material in whole or in part without the prior written consent of Clarivate Analytics.