특이 전기생리결과를 보인 X연관샤르코-마리-투스병1형
X-linked Charcot-Marie-Tooth Disease Type 1 Harboring Unusual Electrophysiological Features
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초록
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 severeimpairments in male patients. In addition, patients with CMTX1 rarely present conduction block and temporaldispersion, which are characteristic findings in acquired demyelinating neuropathy. We report herein, for the first timein Korea, two patients with Cx32 mutations who exhibited unusual electrophysiological findings.
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 severeimpairments in male patients. In addition, patients with CMTX1 rarely present conduction block and temporaldispersion, which are characteristic findings in acquired demyelinating neuropathy. We report herein, for the first timein Korea, two patients with Cx32 mutations who exhibited unusual electrophysiological findings.
참고문헌 (10)
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