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Charcot-Marie-Tooth disease type 4E (CMT4E)
Also see Charcot-Marie-Tooth disease
Genetics:
1) autosomal recessive form of congenital hypomyelination neuropathy
2) associated with defects in EGR2
Clinical manifestations:
- early onset of hypotonia, areflexia, distal muscle weakness
Special laboratory:
- very slow nerve conduction velocities
Database Correlations
OMIM 145900
References
OMIM :accession 601596