Charcot-Marie-Tooth disease, X-linked, 1 [Supplementary Concept]
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.
Date introduced: August 25, 2010
MeSH Unique ID: C535919
Heading Mapped to:
Entry Terms:
- Hereditary motor and sensory neuropathy, X-linked
- CMTX 1
- Charcot-Marie-Tooth Neuropathy, X-Linked, 1
- Cmtx1
- Charcot-Marie-Tooth peroneal muscular atrophy, X-linked
- HMSN, X-linked