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호흡곤란으로 인한 의식저하가 발생한 Tropomyosin 3 (TPM3) 유전자 돌연변이에 의한 선천근섬유형불균형 1가계
DC Field | Value | Language |
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dc.contributor.author | 최영철 | - |
dc.contributor.author | 홍지만 | - |
dc.date.accessioned | 2019-07-23T06:50:51Z | - |
dc.date.available | 2019-07-23T06:50:51Z | - |
dc.date.issued | 2019 | - |
dc.identifier.issn | 1225-7044 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/170333 | - |
dc.description.abstract | Congenital fiber type disproportion (CFTD) has been related with mutations inACTA1,SEPN1,RYR1andtropomyosin 3(TPM3) genes. Particularly,TPM3mutation 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 dominantTPM3missense 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.statementOfResponsibility | open | - |
dc.language | Korean | - |
dc.publisher | 대한신경과학회 | - |
dc.relation.isPartOf | Journal of the Korean Neurological Association (대한신경과학회지) | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.title | 호흡곤란으로 인한 의식저하가 발생한 Tropomyosin 3 (TPM3) 유전자 돌연변이에 의한 선천근섬유형불균형 1가계 | - |
dc.title.alternative | A Family of Congenital Fiber Type Disproportion with Mutation inTropomyosin 3(TPM3) Gene Presenting as Altered Mentality with Respiratory Distress | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Neurology (신경과학교실) | - |
dc.contributor.googleauthor | 남궁동욱 | - |
dc.contributor.googleauthor | 홍지만 | - |
dc.contributor.googleauthor | 이정환 | - |
dc.contributor.googleauthor | 박형준 | - |
dc.contributor.googleauthor | 최영철 | - |
dc.identifier.doi | 10.17340/jkna.2019.2.10 | - |
dc.contributor.localId | A04116 | - |
dc.contributor.localId | A04439 | - |
dc.relation.journalcode | J01836 | - |
dc.subject.keyword | Congenital fiber type disproportion | - |
dc.subject.keyword | TPM3 protein | - |
dc.subject.keyword | Respiratory insufficiency | - |
dc.contributor.alternativeName | Choi, Young Chul | - |
dc.contributor.affiliatedAuthor | 최영철 | - |
dc.contributor.affiliatedAuthor | 홍지만 | - |
dc.citation.volume | 37 | - |
dc.citation.number | 2 | - |
dc.citation.startPage | 174 | - |
dc.citation.endPage | 177 | - |
dc.identifier.bibliographicCitation | Journal of the Korean Neurological Association (대한신경과학회지), Vol.37(2) : 174-177, 2019 | - |
dc.identifier.rimsid | 63063 | - |
dc.type.rims | ART | - |
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