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J Korean Neurol Assoc. 2019 May;37(2):174-177. Korean. Case Report. https://doi.org/10.17340/jkna.2019.2.10
Namgung DW , Hong JM , Lee JH , Park HJ , Choi YC .
Department of Neurology, Yonsei University College of Medicine, Seoul, Korea. ycchoi@yuhs.ac
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.

Copyright © 2019. Korean Association of Medical Journal Editors.