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Comparison of clinical characteristics between congenital fiber type disproportion myopathy and congenital myopathy with type 1 fiber predominance

DC Field Value Language
dc.contributor.author김태승-
dc.contributor.author최영철-
dc.contributor.author강성웅-
dc.date.accessioned2015-06-10T12:13:50Z-
dc.date.available2015-06-10T12:13:50Z-
dc.date.issued2006-
dc.identifier.issn0513-5796-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/109424-
dc.description.abstractCongenital myopathies are clinical and genetic heterogeneous disorders characterized by skeletal muscle weakness and specific structural changes in muscle fiber. Congenital myopathy with fiber type disproportion (CFTD) is an established disorder of congenital myopathy. CFTD is characterized by non-progressive childhood neuromuscular disorders with a relatively good prognosis and type 1 fiber predominance and smallness. Congenital myopathy with type 1 fiber predominance (CMT1P) is also a distinct entity of congenital myopathy characterized by non-progressive childhood neuromuscular disorders and type 1 fiber predominance without smallness. Little is known about CMT1P. Clinical characteristics, including dysmorphic features such as hip dislocation, kyphoscoliosis, contracture, and high arch palate, were analyzed along with laboratory and muscle pathologies in six patients with CMT1P and three patients with CFTD. The clinical manifestations of CFTD and CMT1P were similar. However, the frequency of dysmorphic features is less in CMT1P than in CFTD. Long term observational studies of CMT1P are needed to determine if it will change to another form of congenital myopathy or if CMT1P is a distinct clinical entity.-
dc.description.statementOfResponsibilityopen-
dc.format.extent513~518-
dc.relation.isPartOfYONSEI MEDICAL JOURNAL-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.subject.MESHAdult-
dc.subject.MESHBiopsy-
dc.subject.MESHChild-
dc.subject.MESHChild, Preschool-
dc.subject.MESHFemale-
dc.subject.MESHHumans-
dc.subject.MESHInfant-
dc.subject.MESHMale-
dc.subject.MESHMuscles/pathology-
dc.subject.MESHMuscular Diseases/pathology*-
dc.subject.MESHMyopathies, Structural, Congenital/diagnosis*-
dc.titleComparison of clinical characteristics between congenital fiber type disproportion myopathy and congenital myopathy with type 1 fiber predominance-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Rehabilitation Medicine (재활의학)-
dc.contributor.googleauthorSang-Jun Na-
dc.contributor.googleauthorWoo-Kyung Kim-
dc.contributor.googleauthorTai-Seung Kim-
dc.contributor.googleauthorSeong-Woong Kang-
dc.contributor.googleauthorEun-Young Lee-
dc.contributor.googleauthorYoung-Chul Choi-
dc.identifier.doi10.3349/ymj.2006.47.4.513-
dc.admin.authorfalse-
dc.admin.mappingfalse-
dc.contributor.localIdA01071-
dc.contributor.localIdA04116-
dc.contributor.localIdA00041-
dc.relation.journalcodeJ02813-
dc.identifier.eissn1976-2437-
dc.identifier.pmid16941741-
dc.subject.keywordCongenital myopathy-
dc.subject.keywordcongenital myopathy with fiber type disproportion-
dc.subject.keywordcongenital myopathy with type 1 fiber predominance-
dc.contributor.alternativeNameKim, Tai Seung-
dc.contributor.alternativeNameChoi, Young Chul-
dc.contributor.alternativeNameKang, Seong Woong-
dc.contributor.affiliatedAuthorKim, Tai Seung-
dc.contributor.affiliatedAuthorChoi, Young Chul-
dc.contributor.affiliatedAuthorKang, Seong Woong-
dc.rights.accessRightsfree-
dc.citation.volume47-
dc.citation.number4-
dc.citation.startPage513-
dc.citation.endPage518-
dc.identifier.bibliographicCitationYONSEI MEDICAL JOURNAL, Vol.47(4) : 513-518, 2006-
dc.identifier.rimsid57377-
dc.type.rimsART-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Rehabilitation Medicine (재활의학교실) > 1. Journal Papers

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