Autosomal dominant charcot-marie-tooth disease type 2e

A form of Charcot-Marie-Tooth disease which is inherited in an autosomal dominant manner. It is caused by mutation(s) in the NEFL gene, encoding neurofilament light polypeptide. It results in peripheral axonal neuropathy.

Disease Alternative Name

charcot-marie-tooth disease type 2e
MainRecentTopDoctors

Trending Cases