Some of these genes have been already associated with axonal dysfunction, such as mitofusin 2 (MFN2) which is responsible for 5–10 % of CMT2 cases, neurofilament light chain (NEFL) in 1–5 % and ganglioside-induced differentiation-associated protein (GDAP1) in less than 1 % of the cases [1, 3, 4, 11, 13]. Here, NEFL is linked to Charcot-Marie-Tooth disease type 2.