Charcot-Marie-Tooth Neuropathy X Type 1

**Semantic type:** Disease or Syndrome

**Definition:** Charcot-Marie-Tooth neuropathy that is inherited in an X-linked manner, and is associated with mutation(s) in the GJB1 gene, encoding gap junction beta-1 protein. The condition is characterized by moderate to severe motor and sensory neuropathy in males, and mild to no symptoms in females.

**Synonyms:** - CMTX1 - Charcot-Marie-Tooth Neuropathy X-Linked Dominant Type 1