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Merosin 결핍 선천성근이영양증 1예
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 강성웅 | - |
dc.contributor.author | 김태승 | - |
dc.contributor.author | 최영철 | - |
dc.date.accessioned | 2015-07-14T17:15:07Z | - |
dc.date.available | 2015-07-14T17:15:07Z | - |
dc.date.issued | 2004 | - |
dc.identifier.issn | 1225-7044 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/112509 | - |
dc.description.abstract | Primary merosin (laminin α2 chain)-deficient congenital muscular dystrophy (CMD) is a uncommon and severe form of CMD, which is caused by the mutations in the laminin α2 chain gene. It is an autosomal recessively inherited form of muscular dystrophy that is associated with severe neonatal hypotonia, a high serum creatine kinase level, and abnormal brain imaging without intellectual dysfunction. We report a case of merosin-deficient CMD confirmed by the immunocytochemical analysis of the frozen muscle biopsy. This is the first case of merosin-deficient CMD in Korea. | - |
dc.description.statementOfResponsibility | open | - |
dc.format.extent | 680~682 | - |
dc.relation.isPartOf | Journal of the Korean Neurological Association | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.title | Merosin 결핍 선천성근이영양증 1예 | - |
dc.title.alternative | Merosin Deficient Congenital Muscular Dystrophy: A Case with Immunocytochemical Analysis | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Pathology (병리학) | - |
dc.contributor.googleauthor | 채경민 | - |
dc.contributor.googleauthor | 강성웅 | - |
dc.contributor.googleauthor | 최영철 | - |
dc.contributor.googleauthor | 김태승 | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.relation.journalcode | J01835 | - |
dc.subject.keyword | Merosin-deficient congenital muscular dystrophy | - |
dc.subject.keyword | Laminin α2 | - |
dc.contributor.alternativeName | Kang, Seong Woong | - |
dc.contributor.alternativeName | Kim, Tai Seung | - |
dc.contributor.alternativeName | Choi, Young Chul | - |
dc.rights.accessRights | free | - |
dc.citation.volume | 22 | - |
dc.citation.number | 6 | - |
dc.citation.startPage | 680 | - |
dc.citation.endPage | 682 | - |
dc.identifier.bibliographicCitation | Journal of the Korean Neurological Association, Vol.22(6) : 680-682, 2004 | - |
dc.identifier.rimsid | 56225 | - |
dc.type.rims | ART | - |
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