Charcot-Marie-Tooth Disease Type 2A2B

**Semantic type:** Disease or Syndrome

**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.

**Synonyms:** - Axonal Charcot-Marie-Tooth Disease Type 2A2B - CMT2A2B