|
KMID : 0359720140320020108
|
|
Journal of the Korean Neurological Association
2014 Volume.32 No. 2 p.108 ~ p.112
|
|
|
X-linked Charcot-Marie-Tooth Disease Type 1 Harboring Unusual Electrophysiological Features
|
|
Park Hyung-Jun
Shin Ha-Young
Lee Hyo-Eun
Lee Dong-Hyun
Kim Kyung-Min
Choi Byung-Ok
Kim Seung-Min
|
|
|
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.
|
|
|
KEYWORD
|
|
|
Charcot-Marie-Tooth disease, Connexin 32 (Cx32), Nerve conduction study
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
  
|