Charcot-Marie-Tooth Disease Type 2E

**Semantic type:** Disease or Syndrome

**Definition:** 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.

**Synonyms:** - CMT2E