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Up to: Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
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.
This condition has no sub-types.