Charcot-Marie-Tooth disease type 1E
Charcot-Marie-Tooth disease type 1E
An autosomal dominant form of Charcot-Marie-Tooth disease (OMIM:118300), characterised by sensorineural hearing loss with peripheral demyelinating neuropathy.Molecular pathology
Defects in PMP22, which encodes peripheral myelin protein 22, cause Charcot-Marie-Tooth disease type 1E.