To date, more than 40 mutations affecting MFN2 have been detected in patients with CMT2A (Mutation Database of Inherited Peripheral Neuropathies, http://www.molgen.ua.ac.be/cmtmutations/Home/Default.cfm/); most are missense mutations in the GTPase domain (>50%) or in the coiled-coil structure. The gene discussed is MFN2; the disease is peripheral neuropathy.