X-Linked Charcot-Marie-Tooth disease caused by a novel point mutation in the connexin-32 gene

被引：2

作者：

Ma, W ^{[1
]}

Nizam, MF ^{[1
]}

Grewal, RP ^{[1
]}

机构：

[1] Seton Hall Univ, New Jersey Neurosci Inst, Neurogenet Lab, Edison, NJ 08818 USA

来源：

NEUROLOGICAL SCIENCES | 2002年 / 23卷 / 04期

关键词：

X-linked Charcot-Marie-Tooth disease; point mutation; connexin gene;

D O I：

10.1007/s100720200061

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We report the clinical and electrophysiological findings of a patient with X-linked Charcot-Marie-Tooth disease and a novel point mutation in the connexin-32 gene. A 31-year-old man presented with a 5 year history of progressive imbalance and distal weakness in his legs. Electrophysiological studies confirmed an asymmetric, predominantly axonal sensorimotor neuropathy with some demyelinating features. Genetic testing revealed a G/A transition (Ala40Thr) in a conserved transmembrane region of the connexin-32 gene.

引用

页码：195 / 197

页数：3