DHTKD1 and Charcot-Marie-Tooth disease: Furthermore, mutations in the remaining CMT-related genes (i.e., HSPB1, PRX, BSCL2, DYNC1H1, HINT1, GARS, AARS, MARS, HK1, TRPV4, KIF5A, EGR2, FGD4, MTMR2, SPG11, NEFL, DHTKD1) were each responsible for <1% of all CMT cases.