Homozygous pathogenic variants in MFN2 (HGNC:16877) are associated with Charcot-Marie-Tooth disease type 2A2B (OMIM #617087) and Lipomatosis, multiple symmetric, with or without peripheral neuropathy (OMIM #151800). This evidence concerns the gene MFN2 and Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;.