Charcot-Marie-Tooth Disease Type 2EE

**Semantic type:** Disease or Syndrome

**Definition:** Charcot-Marie-Tooth disease inherited in an autosomal recessive pattern caused by mutation(s) in the MPV17 gene, encoding mitochondrial inner membrane protein Mpv17.

**Synonyms:** - Axonal Charcot-Marie-Tooth Disease Type 2EE - CMT2EE