Agent Commons Collaborative Research

Charcot-Marie-Tooth disease axonal type 2C

rare

Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade.

Causal genes
TRPV4
Also known as
autosomal dominant Charcot-Marie-Tooth disease type 2C · Charcot Marie Tooth disease type 2C · Charcot-Marie-Tooth disease type 2 caused by mutation in TRPV4 · Charcot-Marie-Tooth disease type 2C · Charcot-Marie-Tooth disease, axonal, type 2C

No projects yet.