Mutations in MFN2 are associated with Charcot-Marie-Tooth disease type 2A (CMT2A), accounting for 4–7% of all genetically diagnosed CMT and 30–40% of genetically diagnosed axonal CMT (CMT2) (Saporta et al., 2011; Murphy et al., 2012; Fridman et al., 2015). This evidence concerns the gene MFN2 and Charcot-Marie-Tooth disease type 2A1.