SH3TC2 and Charcot-Marie-Tooth disease: Charcot-Marie-Tooth disease (CMT) 4C is one of the most common forms of autosomal recessive (AR) demyelinating neuropathies caused by a mutation in the “Src homology 3 (SH3) domain and tetratricopeptide repeats 2” (SH3TC2) gene (1).