Charcot-Marie-Tooth Disease Type 1C

**Semantic type:** Disease or Syndrome

**Definition:** Charcot-Marie-Tooth disease caused by autosomal dominant mutation(s) in the LITAF gene, encoding lipopolysaccharide-induced tumor necrosis factor-alpha factor. It is characterized by distal muscle weakness, atrophy, and depressed deep tendon reflexes.

**Synonyms:** - CMT1C - Charcot-Marie-Tooth Disease, Demyelinating, Type 1C - Charcot-Marie-Tooth disease, type IC