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Journal of the Korean Neurological Association 2014;32(2): 108-112.
특이 전기생리결과를 보인 X연관샤르코-마리-투스병1형
박형준, 신하영 b 이효은 b 이동현 b 김경민 b 최병옥 c 김승민 b
이화여자대학교 의과대학 목동병원 신경과 , 연세대학교 의과대학 신경과학교실 , 성균관대학교 의과대학 삼성서울병원 신경과
X-linked Charcot-Marie-Tooth Disease Type 1 Harboring Unusual Electrophysiological Features
Hyung Jun Park
Department of Neurology a , Mokdong Hospital, Ewha Womans University School of Medicine, Seoul, Korea Department of Neurology b , Yonsei University College of Medicine, Seoul, Korea Department of Neurology c , Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
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. Key Words: Charcot-Marie-Tooth disease, Connexin 32 (Cx32), Nerve conduction study