X-linked Charcot-Marie-Tooth disease caused by a novel point mutation in the connexin-32 gene.
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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Laboratory of Neurogenetics, New Jersey Neuroscience Institute, Seton Hall University, 65 James Street, Edison, New Jersey 08818, USA.
Farrukh Nizam
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Grewal
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D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis* / Q000235:genetics*; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D004568:Electrodiagnosis; D020233:Gait Disorders, Neurologic / Q000209:etiology; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D008297:Male; D009431:Neural Conduction / Q000235:genetics; D017354:Point Mutation; D000097002:Gap Junction beta-1 Protein
D017630:Connexins; D000097002:Gap Junction beta-1 Protein