Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
MONDO:0014906An 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.
Also known as: Charcot-Marie-Tooth disease type 2A2B, CMT2A2B, Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B
9 clinical trials for this condition and its sub-types, 1 tagged with Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; itself.
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