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

Diagnostic procedures

• very slow nerve conduction velocities

More general terms

• genetic disease of the peripheral nervous system

More specific terms

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

Database

• OMIM: https://mirror.omim.org/entry/605253