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.
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