An X-linked dominant form of Charcot-Marie-Tooth Disease that is characterized by severely reduced motor nerve conduction velocities (NCV) (less than 38 m/s) and segmental DEMYELINATION and remyelination with onion bulb formations on nerve biopsy. Mutations in the GJB1 gene have been identified.
Also Known As:
Charcot-Marie-Tooth disease, X-linked, 1; CMTX 1; Charcot-Marie-Tooth Neuropathy, X-Linked, 1; Charcot-Marie-Tooth peroneal muscular atrophy, X-linked; Cmtx1; HMSN, X-linked; Hereditary motor and sensory neuropathy, X-linked