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Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
rareAn 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.
- Identifiers
- MONDO:0014906 OMIM:617087
- Causal genes
- MFN2
- Part of
- Charcot-Marie-Tooth disease
- Also known as
- Charcot-Marie-Tooth disease type 2A2B · CMT2A2B
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