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. Here, AARS1 is linked to Charcot-Marie-Tooth disease.