Mutation spectrum of Charcot‐Marie‐Tooth disease among the Han Chinese in Taiwan

• Published in: Annals of clinical and translational neurology Vol. 6; no. 6; pp. 1090 - 1101
• Main Authors: Hsu, Yun‐Hsin, Lin, Kon‐Ping, Guo, Yuh‐Cherng, Tsai, Yu‐Shuen, Liao, Yi‐Chu, Lee, Yi‐Chung
• Format: Journal Article
• Language: English
• Published: United States John Wiley & Sons, Inc 01.06.2019; John Wiley and Sons Inc; Wiley
• Subjects: Adolescent; Adult; Asians; Bioinformatics; Charcot-Marie-Tooth Disease - genetics; Child; Child, Preschool; DNA Mutational Analysis; Genetic counseling; Genomes; Genotype & phenotype; Humans; Middle Aged; Mutation; Patients; Software; Taiwan; Young Adult; Taiwan

Objective Charcot‐Marie‐Tooth disease (CMT) is a clinically and genetically heterogeneous group of inherited neuropathies. Mutations in more than 90 genes have been implicated in CMT; however, the mutational spectrum of CMT in Chinese population remains obscure. This study aims to provide a comprehe...