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

Other Titles
 A Family of Congenital Fiber Type Disproportion with Mutation in Tropomyosin 3(TPM3) Gene Presenting as Altered Mentality with Respiratory Distress 
Authors
 남궁동욱  ;  홍지만  ;  이정환  ;  박형준  ;  최영철 
Citation
 Journal of the Korean Neurological Association (대한신경과학회지), Vol.37(2) : 174-177, 2019 
Journal Title
 Journal of the Korean Neurological Association (대한신경과학회지) 
ISSN
 1225-7044 
Issue Date
2019
Keywords
Congenital fiber type disproportion ; TPM3 protein ; Respiratory insufficiency
Abstract
Congenital 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.
Files in This Item:
T201902094.pdf Download
DOI
10.17340/jkna.2019.2.10
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
Yonsei Authors
Choi, Young Chul(최영철) ORCID logo https://orcid.org/0000-0001-5525-6861
Hong, Ji Man(홍지만) ORCID logo https://orcid.org/0000-0002-0696-8448
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/170333
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