호흡곤란으로 인한 의식저하가 발생한 Tropomyosin 3 (TPM3) 유전자 돌연변이에 의한 선천근섬유형불균형 1가계
A Family of Congenital Fiber Type Disproportion with Mutation in Tropomyosin 3 (TPM3) Gene Presenting as Altered Mentality with Respiratory Distress
남궁동욱, 홍지만, 이정환, 박형준, 최영철,
소속 상세정보
남궁동욱 ( Namgung Dong-Wook )
연세대학교 의과대학 신경과학교실
홍지만 ( Hong Ji-Man )
연세대학교 의과대학 신경과학교실
이정환 ( Lee Jung-Hwan )
연세대학교 의과대학 신경과학교실
박형준 ( Park Hyung-Jun )
연세대학교 의과대학 신경과학교실
최영철 ( Choi Young-Chul )
연세대학교 의과대학 신경과학교실
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.
키워드
Congenital fiber type disproportion; TPM3 protein; Respiratory insufficiency
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