Genetic profile and onset features of 1005 patients with Charcot-Marie-Tooth disease in Japan - Yoshimura, Akiko; Yuan, Jun-Hui; Hashiguchi, Akihiro; Ando, Masahiro; Higuchi, Yujiro; Nakamura, Tomonori; Okamoto, Yuji; Nakagawa, Masanori; Takashima, Hiroshi (Journal of neurology, neurosurgery and psychiatry, 2019)
Keywords: Adolescent; Adult; Age of Onset; Aged; Asian People - genetics; Charcot-Marie-Tooth Disease - diagnosis; Charcot-Marie-Tooth Disease - epidemiology; Charcot-Marie-Tooth Disease - genetics; Child; Child, Preschool; Connexins - genetics; Consortia; Female; Gap Junction beta-1 Protein; Genes; Genetic Profile; Genomes; Genomics; GTP Phosphohydrolases - genetics; Heat-Shock Proteins; HSP27 Heat-Shock Proteins - genetics; Humans; Infant; Infant, Newborn; Japan; Laboratories; Male; Middle Aged; Mitochondrial Proteins - genetics; Molecular Chaperones; Mutation; Myelin P0 Protein - genetics; Myelin Proteins - genetics; Nerve Tissue Proteins - genetics; Neurofilament Proteins - genetics; Neurogenetics; Peripheral neuropathy; Young Adult; Japan; United States--US; California; molecular epidemiology; charcot-marie-tooth disease; next generation sequencing; gene panel