Moreover, the pathogenicity of the three rare mutations in CMT2 (i.e., the AARS p.N71Y, HSP27 p.T164A, and GDAP1 p.[H256R]+[R282H]) was demonstrated because these mutations segregated with CMT in the families, involved highly conserved amino acids, and were absent on the 1000 control chromosomes. This evidence concerns the gene GDAP1 and Charcot-Marie-Tooth disease.