In addition to the overexpression of PMP22 causing CMT1A, dominant missense mutations in the PMP22 gene may cause CMT1E (<5% of CMT1 cases), and the loss of function in the PMP22 gene causes hereditary neuropathy with pressure palsies (HNPP) [5]. Here, PMP22 is linked to Charcot-Marie-Tooth disease type 1.