Charcot-Marie-Tooth disease type 2B2
Charcot-Marie-Tooth disease type 2B2
Definition
Charcot-Marie-Tooth disease, type 2B2 (CMT2B2, also referred to as CMT4C3) is an axonal CMT peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry.
Also known as AR-CMT2B2, ARCMT2B, autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2, autosomal recessive axonal CMT4C3, Charcot-Marie-Tooth disease type 2B2, Charcot-Marie-Tooth disease, type 2B2, CMT2B2 — per MONDO