Charcot-Marie-Tooth disease X-linked dominant 1

Charcot-Marie-Tooth neuropathy that is inherited in an X-linked manner, and is associated with mutation(s) in the GJB1 gene, encoding gap junction beta-1 protein. The condition is characterized by moderate to severe motor and sensory neuropathy in males, and mild to no symptoms in females.

Also known as: CMT1X, CMT2, CMT2, formerly, CMTX, CMTX 1, CMTX1, Charcot Marie Tooth disease X-linked 1, Charcot-Marie-Tooth disease X-linked dominant 1

10 clinical trials for this condition and its sub-types, 1 tagged with Charcot-Marie-Tooth disease X-linked dominant 1 itself.