X-linked Charcot-Marie-Tooth disease caused by a novel point mutation in the connexin-32 gene
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Updated: Sep 27, 2026

Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons
Published on: January 7, 2019
W Ma1, M Farrukh Nizam, R P Grewal
1Laboratory of Neurogenetics, New Jersey Neuroscience Institute, Seton Hall University, 65 James Street, Edison, New Jersey 08818, USA.
Abstract:
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.
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