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congenital hypomyelination neuropathy

Genetics: - inheritance can be autosomal dominant or recessive - associated with defects in EGR2 - associated with defects in MPZ Clinical manifestations: - early onset of hypotonia, areflexia, distal muscle weakness Special laboratory: - very slow nerve conduction velocities

Specific

Charcot-Marie-Tooth disease type 4E (CMT4E)

General

genetic disease of the peripheral nervous system

Database Correlations

OMIM 605253

References

  1. UniProt :accession P11161
  2. OMIM :accession 605253