Mutation Confirmation and Segregation Analysis
Using Sanger sequencing, we reconfirmed the pathogenic mutations revealed by microarray or NGS. Furthermore, segregation studies were performed in the available family members whenever possible. In order to rule out the possibility that the prioritized variants in the MME gene may be Japanese‐specific polymorphisms, we confirmed whether the variants that existed in the in‐house database comprised of the WES data from 800 Japanese healthy control subjects and 3,742 disease control subjects excluding patients with CMT.