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Charcot-Marie-Tooth disease, Type 4E MeSH Supplementary Concept Data 2024


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 Number
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 Preferred
Congenital Hypomyelinating Neuropathy Related
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