J Genet Med.  2018 Dec;15(2):107-109. 10.5734/JGM.2018.15.2.107.

X-linked Charcot-Marie-Tooth disease case with a novel missense mutation in GJB1 gene

  • 1Department of Neurology, Kyungpook National University Hospital, Daegu, Korea.
  • 2Department of Neurology, Pusan National University Yangsan Hospital, Yangsan, Korea. shinzh@gmail.com


X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) is caused by the mutation in GJB1 gene, characterized by the transient central nervous system involvement and long standing peripheral polyneuropathy which does not fulfill the criteria of demyelination or axonopathy. We describe a 37-year-old man with progressive bilateral leg weakness since his early teen. He suffered transient right hemiparesis, followed by quadriparesis at 14 years of age. When we examined him at 37 years of age, he presented a distal muscle weakness on lower extremities with a sensory symptom. The nerve conduction study demonstrated a motor conduction velocity between 26 and 49 m/s. The whole exome sequencing revealed a novel variant c.136 G>A in GJB1. This report will raise awareness in this rare disease, which is frequently misdiagnosed early in its course.


Charcot-Marie-Tooth disease; Connexins; Central nervous system
Full Text Links
  • JGM
  • Twitter
  • Facebook
Copyright © 2020 by Korean Association of Medical Journal Editors. All rights reserved.     E-mail: koreamed@kamje.or.kr