J Korean Neurol Assoc.
2014 May;32(2):108-112.
X-linked Charcot-Marie-Tooth Disease Type 1 Harboring Unusual Electrophysiological Features
- Affiliations
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- 1Department of Neurology, Mokdong Hospital, Ewha Womans University School of Medicine, Seoul, Korea.
- 2Department of Neurology, Yonsei University College of Medicine, Seoul, Korea. kimsm@yuhs.ac
- 3Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. bochoi@skku.edu
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.
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