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Clinical, Pathologic, and Genetic Features of Collagen VI-Related Myopathy in Korea

DC FieldValueLanguage
dc.contributor.author김세훈-
dc.contributor.author김승민-
dc.contributor.author신하영-
dc.contributor.author이정환-
dc.contributor.author최영철-
dc.date.accessioned2018-07-20T08:22:20Z-
dc.date.available2018-07-20T08:22:20Z-
dc.date.issued2017-
dc.identifier.issn1738-6586-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/161130-
dc.description.abstractBACKGROUND AND PURPOSE: Mutations in collagen VI-related genes (COL6A1, COL6A2, and COL6A3) cause Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD). These were previously believed to be separate disease entities, but they are now both classified as collagen VI-related myopathies, which cover a broad clinical spectrum. We aimed to analyze the clinical, pathologic, and genetic characteristics of patients with collagen VI-related myopathy in Korea. METHODS: We reviewed the clinical, pathologic, and genetic features in 22 patients with collagen VI-related myopathy from 13 families, as confirmed by genetic analysis of collagen VI-related genes. RESULTS: The mean ages of the 22 patients at first symptom presentation and diagnosis were 4.5 and 24.9 years, respectively. Four patients in 4 families showed the phenotype of intermediate collagen VI-related myopathies (IM), 16 patients in 7 families had the BM phenotype, and 2 patients in 2 families presented with the typical UCMD phenotype. Based on genetic analysis, five patients (five families) comprising four with IM and one with typical UCMD had missense mutations in the triple-helical domain of COL6A1, and ten patients (four families) with BM showed exon-14-skipping mutations. Additionally, we found two novel mutations: c.956A>G (p.K319R) in COL6A1 and c.6221G>T (p.G2074V) in COL6A3. CONCLUSIONS: Missense mutations in the triple-helical domain of COL6A1 are the most common mutations related to collagen VI-related myopathy in Korea. Patients with these mutations have a tendency toward an earlier disease onset and more severe progression compared to patients with other mutations.-
dc.description.statementOfResponsibilityopen-
dc.languageEnglish-
dc.publisherKorean Neurological Association-
dc.relation.isPartOfJournal of Clinical Neurology-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rightshttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.titleClinical, Pathologic, and Genetic Features of Collagen VI-Related Myopathy in Korea-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine-
dc.contributor.departmentDept. of Pathology-
dc.contributor.googleauthorJung Hwan Lee-
dc.contributor.googleauthorHa Young Shin-
dc.contributor.googleauthorHyung Jun Park-
dc.contributor.googleauthorSe Hoon Kim-
dc.contributor.googleauthorSeung Min Kim-
dc.contributor.googleauthorYoung-Chul Choi-
dc.identifier.doi10.3988/jcn.2017.13.4.331-
dc.contributor.localIdA00610-
dc.contributor.localIdA00653-
dc.contributor.localIdA02170-
dc.contributor.localIdA03133-
dc.contributor.localIdA04116-
dc.relation.journalcodeJ01327-
dc.identifier.eissn2005-5013-
dc.identifier.pmid28831785-
dc.subject.keywordcollagen-
dc.subject.keywordgenetic testing-
dc.subject.keywordmuscular diseases-
dc.contributor.alternativeNameKim, Se Hoon-
dc.contributor.alternativeNameKim, Seung Min-
dc.contributor.alternativeNameShin, Ha Young-
dc.contributor.alternativeNameLee, Jung Hwan-
dc.contributor.alternativeNameChoi, Young Chul-
dc.contributor.affiliatedAuthorKim, Se Hoon-
dc.contributor.affiliatedAuthorKim, Seung Min-
dc.contributor.affiliatedAuthorShin, Ha Young-
dc.contributor.affiliatedAuthorLee, Jung Hwan-
dc.contributor.affiliatedAuthorChoi, Young Chul-
dc.citation.volume13-
dc.citation.number4-
dc.citation.startPage331-
dc.citation.endPage339-
dc.identifier.bibliographicCitationJournal of Clinical Neurology, Vol.13(4) : 331-339, 2017-
Appears in Collections:
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실)
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실)

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