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A Case of Cogential Fiber Type Disproportion With Multiple Anomalies

DC FieldValueLanguage
dc.contributor.author김세훈-
dc.contributor.author김태승-
dc.contributor.author김흥동-
dc.contributor.author이영목-
dc.contributor.author이준수-
dc.date.accessioned2015-06-10T12:52:34Z-
dc.date.available2015-06-10T12:52:34Z-
dc.date.issued2006-
dc.identifier.issn1226-6884-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/110606-
dc.description.abstractCongenital 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.statementOfResponsibilityopen-
dc.format.extent328~332-
dc.relation.isPartOfJournal of the Korean Child Neurology Society (대한소아신경학회지)-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.titleA Case of Cogential Fiber Type Disproportion With Multiple Anomalies-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Pathology (병리학)-
dc.contributor.googleauthorSu Young Seo-
dc.contributor.googleauthorYoung Mock Lee-
dc.contributor.googleauthorSe Hoon Kim-
dc.contributor.googleauthorTai Seung Kim-
dc.contributor.googleauthorJoon Soo Lee-
dc.contributor.googleauthorHeung Dong Kim-
dc.admin.authorfalse-
dc.admin.mappingfalse-
dc.contributor.localIdA00610-
dc.contributor.localIdA01071-
dc.contributor.localIdA01208-
dc.contributor.localIdA02955-
dc.contributor.localIdA03177-
dc.relation.journalcodeJ01815-
dc.subject.keywordCongenital fiber type disproprtion (CFTD)-
dc.subject.keywordCongenital myopathy-
dc.subject.keywordMentalretardation-
dc.subject.keywordSeizure-
dc.contributor.alternativeNameKim, Se Hoon-
dc.contributor.alternativeNameKim, Tai Seung-
dc.contributor.alternativeNameKim, Heung Dong-
dc.contributor.alternativeNameLee, Young Mock-
dc.contributor.alternativeNameLee, Joon Soo-
dc.contributor.affiliatedAuthorKim, Se Hoon-
dc.contributor.affiliatedAuthorKim, Tai Seung-
dc.contributor.affiliatedAuthorKim, Heung Dong-
dc.contributor.affiliatedAuthorLee, Young Mock-
dc.contributor.affiliatedAuthorLee, Joon Soo-
dc.rights.accessRightsfree-
dc.citation.volume14-
dc.citation.number2-
dc.citation.startPage328-
dc.citation.endPage332-
dc.identifier.bibliographicCitationJournal of the Korean Child Neurology Society (대한소아신경학회지), Vol.14(2) : 328-332, 2006-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers

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