This study identified 7 novel, likely pathogenic variants of SH3TC2 (c.280–2 A > G, c.732–1 G > A, c.1177+6 T > C, c.3328–1 G > A, G299S, R548W, L1048P), and the study results provide more insight into the diversity of CMT4C phenotypes. This evidence concerns the gene SH3TC2 and Charcot-Marie-Tooth disease type 4C.