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

Neurological Sciences volume 23, pages 195–197 (2002)Cite this article

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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Affiliations

  1. Laboratory of Neurogenetics, New Jersey Neuroscience Institute, Seton Hall University, 65 James Street, Edison, New Jersey, 08818 USA, US

    W. Ma, M. Farrukh Nizam & R.P. Grewal

Authors
  1. W. Ma
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  2. M. Farrukh Nizam
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  3. R.P. Grewal
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Additional information

Received: 13 April 2002 / Accepted in revised form: 18 June 2002

Correspondence to R.P. Grewal

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Ma, W., Farrukh Nizam, M. & Grewal, R. X-Linked Charcot-Marie-Tooth disease caused by a novel point mutation in the connexin-32 gene. Neurol Sci 23, 195–197 (2002). https://doi.org/10.1007/s100720200061

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  • DOI: https://doi.org/10.1007/s100720200061

  • Key words X-linked Charcot-Marie-Tooth disease
  • Point mutation
  • Connexin gene