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X-linked Charcot-Marie-Tooth Disease Type 1 Harboring Unusual Electrophysiological Features
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¹ÚÇüÁØ(Park Hyung-Jun) - ÀÌÈ¿©ÀÚ´ëÇб³ ÀÇ°ú´ëÇÐ ¸ñµ¿º´¿ø ½Å°æ°ú
½ÅÇÏ¿µ(Shin Ha-Young) - ¿¬¼¼´ëÇб³ ÀÇ°ú´ëÇÐ ½Å°æ°úÇб³½Ç
ÀÌÈ¿Àº(Lee Hyo-Eun) - ¿¬¼¼´ëÇб³ ÀÇ°ú´ëÇÐ ½Å°æ°úÇб³½Ç
À̵¿Çö(Lee Dong-Hyun) - ¿¬¼¼´ëÇб³ ÀÇ°ú´ëÇÐ ½Å°æ°úÇб³½Ç
±è°æ¹Î(Kim Kyung-Min) - ¿¬¼¼´ëÇб³ ÀÇ°ú´ëÇÐ ½Å°æ°úÇб³½Ç
ÃÖº´¿Á(Choi Byung-Ok) - ¼º±Õ°ü´ëÇб³ ÀÇ°ú´ëÇÐ »ï¼º¼¿ïº´¿ø ½Å°æ°ú
±è½Â¹Î(Kim Seung-Min) - ¿¬¼¼´ëÇб³ ÀÇ°ú´ëÇÐ ½Å°æ°úÇб³½Ç
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.
Å°¿öµå
Charcot-Marie-Tooth disease, Connexin 32 (Cx32), Nerve conduction study
KMID :
0359720140320020108
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