/Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;

Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;

Rare Disease

MONDO:0014906

Also Known As

Charcot-Marie-Tooth disease type 2A2BCharcot-Marie-Tooth disease, axonal, type 2A2BCMT2A2BCharcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B

Definition

An autosomal recessive sub-type of Charcot-Marie-Tooth disease caused by compound heterozygous or homozygous mutation(s) in the MFN2 gene, encoding mitofusin-2. This condition is more severe and has an earlier onset as compared to Charcot-Marie-Tooth disease type 2A2A.