Among them, mutations in MFN2 have been found in approximately 11–24.2% of CMT2 patients [19]–[22], whereas AARS and TRPV4 mutations were only recently identified in limited CMT2 families [5], [16], and mutations in other genes were found in only a few patients. The gene discussed is TRPV4; the disease is Charcot-Marie-Tooth disease type 2.