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A Case of Cogential Fiber Type Disproportion With Multiple Anomalies
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 김세훈 | - |
dc.contributor.author | 김태승 | - |
dc.contributor.author | 김흥동 | - |
dc.contributor.author | 이영목 | - |
dc.contributor.author | 이준수 | - |
dc.date.accessioned | 2015-06-10T12:52:34Z | - |
dc.date.available | 2015-06-10T12:52:34Z | - |
dc.date.issued | 2006 | - |
dc.identifier.issn | 1226-6884 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/110606 | - |
dc.description.abstract | Congenital fiber type disproportion (CFTD) is a rare form of congenital myopathy characterized by the smallness and the marked predominance of type 1 fibers, which presents congenital hypotonia, delayed motor milestones, joint contractures, and skeletal deformities. The muscle biopsy reveals the type 1 fibers are more than 12% smaller than the type 2 fibers in size. We describe a 24-month-old boy who presented muscle hypotonia, delayed motor milestones, mental retardation with generalized tonic clonic seizures, and the muscle pathologic findings of CFTD. Additional findings included left cryptorchidism, congenital subluxation of the hip, contractures of ankle joints, diffuse brain atrophy, and optic nerve atrophy. We should consider CFTD as a differential diagnosis of early onset myopathy. | - |
dc.description.statementOfResponsibility | open | - |
dc.format.extent | 328~332 | - |
dc.language | Korean | - |
dc.publisher | 대한소아신경학회 | - |
dc.relation.isPartOf | Journal of the Korean Child Neurology Society | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.title | A Case of Cogential Fiber Type Disproportion With Multiple Anomalies | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Pathology (병리학) | - |
dc.contributor.googleauthor | Su Young Seo | - |
dc.contributor.googleauthor | Young Mock Lee | - |
dc.contributor.googleauthor | Se Hoon Kim | - |
dc.contributor.googleauthor | Tai Seung Kim | - |
dc.contributor.googleauthor | Joon Soo Lee | - |
dc.contributor.googleauthor | Heung Dong Kim | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.contributor.localId | A00610 | - |
dc.contributor.localId | A01071 | - |
dc.contributor.localId | A01208 | - |
dc.contributor.localId | A02955 | - |
dc.contributor.localId | A03177 | - |
dc.relation.journalcode | J01815 | - |
dc.subject.keyword | Congenital fiber type disproprtion (CFTD) | - |
dc.subject.keyword | Congenital myopathy | - |
dc.subject.keyword | Mentalretardation | - |
dc.subject.keyword | Seizure | - |
dc.contributor.alternativeName | Kim, Se Hoon | - |
dc.contributor.alternativeName | Kim, Tai Seung | - |
dc.contributor.alternativeName | Kim, Heung Dong | - |
dc.contributor.alternativeName | Lee, Young Mock | - |
dc.contributor.alternativeName | Lee, Joon Soo | - |
dc.contributor.affiliatedAuthor | Kim, Se Hoon | - |
dc.contributor.affiliatedAuthor | Kim, Tai Seung | - |
dc.contributor.affiliatedAuthor | Kim, Heung Dong | - |
dc.contributor.affiliatedAuthor | Lee, Young Mock | - |
dc.contributor.affiliatedAuthor | Lee, Joon Soo | - |
dc.rights.accessRights | free | - |
dc.citation.volume | 14 | - |
dc.citation.number | 2 | - |
dc.citation.startPage | 328 | - |
dc.citation.endPage | 332 | - |
dc.identifier.bibliographicCitation | Journal of the Korean Child Neurology Society, Vol.14(2) : 328-332, 2006 | - |
dc.identifier.rimsid | 57159 | - |
dc.type.rims | ART | - |
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