AR and Alzheimer disease: We identified 179 patients from 133 families with dominant pathogenic (ACMG class 5) or likely pathogenic (class 4) MFN2 variants (AD-CMT2A; Supplementary Table 3), and 17 patients from 13 families with AR-CMT2A (Supplementary Table 5); 13 of 17 patients with AR-CMT2A harboured homozygous variants or compound heterozygous variants proven to be in trans phase.