Novel GJB1 mutation causing adult-onset Charcot-Marie-Tooth disease in a female patient.

Abstract excerpt

Charcot-Marie-Tooth disease (CMT), which is the eponym for hereditary motor and sensory neuropathy (HMSN), affects ∼1 in 2500 individuals. The most common subtype of X-linked CMT, CMTX1, is caused by mutations in GJB1, the gene encoding connexin 32, a gap junction protein in myelinated Schwann cells. We report a woman, who presented at the age of 56 years with gait unsteadiness and tingling in her feet. Clinical...

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