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

Introduction

Also see Charcot-Marie-Tooth disease

Genetics

• autosomal recessive form of congenital hypomyelination neuropathy
• associated with defects in EGR2

Clinical manifestations

• early onset of hypotonia, areflexia, distal muscle weakness

Diagnostic procedures

• very slow nerve conduction velocities

More general terms

• Charcot-Marie-Tooth disease type 4 (CMT4)

Database

• OMIM: https://mirror.omim.org/entry/145900