SH3TC2 and Charcot-Marie-Tooth disease: Mice with exon 1 of the Sh3tc2 gene knocked out demonstrate many of the features seen in patients with CMT4C, which appears to be the most prevalent (18%) autosomal recessive CMT subtype.1,2 The clinical spectrum of CMT4C is broad, contrasting with the classical CMT phenotype having features of slowly progressive length-dependent distally prominent and symmetrical neuropathy.