79 111

Cited 0 times in

호흡곤란으로 인한 의식저하가 발생한 Tropomyosin 3 (TPM3) 유전자 돌연변이에 의한 선천근섬유형불균형 1가계

DC FieldValueLanguage
dc.contributor.author최영철-
dc.contributor.author홍지만-
dc.date.accessioned2019-07-23T06:50:51Z-
dc.date.available2019-07-23T06:50:51Z-
dc.date.issued2019-
dc.identifier.issn1225-7044-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/170333-
dc.description.abstractCongenital fiber type disproportion (CFTD) has been related with mutations in ACTA1, SEPN1, RYR1 and tropomyosin 3 (TPM3) genes. Particularly, TPM3 mutation was identified as one of the most frequent cause of CFTD and was also detected in cap myopathy and nemaline myopathy. Herein we report patients of autosomal dominant TPM3 missense mutations with CFTD in a Korean family over twogenerations. Two of our patients, who developed mild muscle weakness in infancy, presented with altered mentality and respiratory distress despite relatively mild limb weakness.-
dc.description.statementOfResponsibilityopen-
dc.languageKorean-
dc.publisher대한신경과학회-
dc.relation.isPartOfJournal of the Korean Neurological Association (대한신경과학회지)-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rightshttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.title호흡곤란으로 인한 의식저하가 발생한 Tropomyosin 3 (TPM3) 유전자 돌연변이에 의한 선천근섬유형불균형 1가계-
dc.title.alternativeA Family of Congenital Fiber Type Disproportion with Mutation in Tropomyosin 3(TPM3) Gene Presenting as Altered Mentality with Respiratory Distress-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Neurology (신경과학교실)-
dc.contributor.googleauthor남궁동욱-
dc.contributor.googleauthor홍지만-
dc.contributor.googleauthor이정환-
dc.contributor.googleauthor박형준-
dc.contributor.googleauthor최영철-
dc.identifier.doi10.17340/jkna.2019.2.10-
dc.contributor.localIdA04116-
dc.contributor.localIdA04439-
dc.contributor.localIdA04439-
dc.relation.journalcodeJ01836-
dc.subject.keywordCongenital fiber type disproportion-
dc.subject.keywordTPM3 protein-
dc.subject.keywordRespiratory insufficiency-
dc.contributor.alternativeNameChoi, Young Chul-
dc.contributor.affiliatedAuthor최영철-
dc.contributor.affiliatedAuthor홍지만-
dc.contributor.affiliatedAuthor홍지만-
dc.citation.volume37-
dc.citation.number2-
dc.citation.startPage174-
dc.citation.endPage177-
dc.identifier.bibliographicCitationJournal of the Korean Neurological Association (대한신경과학회지), Vol.37(2) : 174-177, 2019-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers

qrcode

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.