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X-linked Charcot-Marie-Tooth disease case with a novel missense mutation in GJB1 gene
J Genet Med 2018;15:107-109
Published online December 31, 2018;
© 2018 Korean Society of Medical Genetics and Genomics.

Jong-Mok Lee1 and Jin-Hong Shin2,*

1Department of Neurology, Kyungpook National University Hospital, Daegu, Korea
2Department of Neurology, Pusan National University Yangsan Hospital, Yangsan, Korea
Jin-Hong Shin, M.D., Ph.D.
Department of Neurology, Pusan National University Yangsan Hospital, 20 Geumo-ro, Mulgeum-eup, Yangsan 50612, Korea.
Tel: +82-55-360-2122, Fax: +82-55-360-2521, E-mail:
Received June 14, 2018; Revised August 2, 2018; Accepted August 3, 2018.
cc This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License ( which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
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.
Keywords : Charcot-Marie-Tooth disease, Connexins, Central nervous system

December 2018, 15 (2)
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