MeSH Browser

MeSH Supplementary: Charcot-Marie-Tooth disease, Type 4E
Unique ID: C535301
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C535301
Entry Term(s): Charcot-Marie-Tooth Neuropathy, Type 4e; Congenital Hypomyelinating Neuropathy; Congenital hypomyelinating neuropathy (CHN); Hypomyelination, severe congenital; Neuropathy, congenital hypomyelinating
Registry Numbers: 0
Heading Mapped to: *Charcot-Marie-Tooth Disease
Frequency: 21
Note: A form of Charcot-Marie-Tooth Disease that may be autosomal dominant or recessive. It is characterized by the early onset of MUSCLE HYPOTONIA; areflexia, distal muscle weakness, and very slow nerve conduction velocities due to DEMYELINATION. Mutations in the MPZ and EGR2 genes have been identified. OMIM: 605253
Date of Entry: 2010/08/25
Revision Date: 2019/03/29

Charcot-Marie-Tooth disease, Type 4E MeSH Supplementary Concept Data 2025