Genetic profile and onset features of 1005 patients with Charcot-Marie-Tooth disease in Japan

Abstract excerpt

Objective To identify the genetic characteristics in a large-scale of patients with Charcot-Marie-Tooth disease (CMT). Methods From May 2012 to August 2016, we collected 1005 cases with suspected CMT throughout Japan, whereas PMP22 duplication/deletion were excluded in advance for demyelinating CMT cases. We performed next-generation sequencing targeting CMT-related gene panels using Illumina MiSeq or Ion Proton,...