X-linked Charcot-Marie-Tooth Disease Type 1 Harboring Unusual Electrophysiological Features.
- Author:
Hyung Jun PARK
1
;
Ha Young SHIN
;
Hyo Eun LEE
;
Dong Hyun LEE
;
Kyung Min KIM
;
Byung Ok CHOI
;
Seung Min KIM
Author Information
1. Department of Neurology, Mokdong Hospital, Ewha Womans University School of Medicine, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Charcot-Marie-Tooth disease;
Connexin 32 (Cx32);
Nerve conduction study
- MeSH:
Charcot-Marie-Tooth Disease*;
Humans;
Korea;
Male;
X Chromosome
- From:Journal of the Korean Neurological Association
2014;32(2):108-112
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Charcot-Marie-Tooth X type 1 (CMTX1) is caused by mutations in the connexin 32 gene (Cx32) on the X chromosome. Electrophysiologically, CMTX1 is usually associated with intermediate slowing of conduction velocities and severe impairments in male patients. In addition, patients with CMTX1 rarely present conduction block and temporal dispersion, which are characteristic findings in acquired demyelinating neuropathy. We report herein, for the first time in Korea, two patients with Cx32 mutations who exhibited unusual electrophysiological findings.
