AIFM1 and axonal neuropathy: Interestingly, other mutations have been described to alter the redox and pro-apoptotic properties of AIFM1 but not the activities of OXPHOS complexes, like the p.E493V mutation found in a patient with Cowchock syndrome (also known as CMTX4) a recessive disorder with axonal neuropathy, deafness, and cognitive impairment [47].