Pathological studies showed some differences between the features of these patients and the typical CMT2 pattern observed in cases involving mutations in MFN2. CMT2 cases involving mutations in IGHMBP2 tend to have a milder involvement of large myelinated fibres, which is almost absent in CMT2 cases involving mutations in MFN2, which show no involvement of small fibres. Here, MFN2 is linked to Charcot-Marie-Tooth disease type 2.