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미요시근육병 환자에서 밝혀진 Dysferlin 유전자 돌연변이
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 최영철 | - |
dc.date.accessioned | 2015-04-24T17:35:07Z | - |
dc.date.available | 2015-04-24T17:35:07Z | - |
dc.date.issued | 2009 | - |
dc.identifier.issn | 1229-6414 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/105679 | - |
dc.description.abstract | Miyoshi myopathy (MM) is caused by the mutations of dysferlin gene (DYSF), which impairs the function of dysferlin protein causing muscle membrane dysfunction. We report a patient showing the MM phenotype who has a sister with LGMD 2B phenotype, along with the results of the immunohistochemical and molecular analyses of the DYSF gene. Immunohistochemical analysis noted negative immunoreactivity against dysferlin. Direct DNA sequencing of whole exons of DYSF gene revealed heterozygous nonsense mutations (c.610C>T + c.2494C>T). To our knowledge, this is the first reported MM case with this very combination of heterozygous mutations. | - |
dc.description.statementOfResponsibility | open | - |
dc.format.extent | 59~63 | - |
dc.relation.isPartOf | Journal of the Korean Society for Clinical Neurophysiology (대한임상신경생리학회지) | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.title | 미요시근육병 환자에서 밝혀진 Dysferlin 유전자 돌연변이 | - |
dc.title.alternative | Identification of a Dysferlin Gene Mutation in One Patient Showing Clinical Manifestation of Miyoshi Myopathy | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Neurology (신경과학) | - |
dc.contributor.googleauthor | 지명구 | - |
dc.contributor.googleauthor | 김남희 | - |
dc.contributor.googleauthor | 김대성 | - |
dc.contributor.googleauthor | 최영철 | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.contributor.localId | A04116 | - |
dc.relation.journalcode | J01851 | - |
dc.subject.keyword | Miyoshi myopathy | - |
dc.subject.keyword | Dysferlin | - |
dc.subject.keyword | Dysferlinopathy | - |
dc.contributor.alternativeName | Choi, Young Chul | - |
dc.contributor.affiliatedAuthor | Choi, Young Chul | - |
dc.citation.volume | 11 | - |
dc.citation.number | 2 | - |
dc.citation.startPage | 59 | - |
dc.citation.endPage | 63 | - |
dc.identifier.bibliographicCitation | Journal of the Korean Society for Clinical Neurophysiology (대한임상신경생리학회지), Vol.11(2) : 59-63, 2009 | - |
dc.identifier.rimsid | 42661 | - |
dc.type.rims | ART | - |
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