Article
Whole-Genome Linkage Analysis with Whole-Exome Sequencing Identifies a Novel Frameshift Variant in NEFH in a Chinese Family with Charcot-Marie-Tooth 2: A Novel Variant in NEFH for Charcot-Marie-Tooth 2.
Neuro-degenerative diseases - 1 Jan 2018
Bian Xianli, Lin Pengfei, Li Jiangxia, Long Feng, Duan Ruonan, Yuan Qianqian, Li Yan, Gao Fei, Gao Shang, Wei Shijun, Li Xi, Sun Wenjie, Gong Yaoqin, Yan Chuanzhu, Liu Qiji
Abstract excerpt
BACKGROUND: Charcot-Marie-Tooth disease (CMT) is the most common neurodegenerative disorder of the peripheral nervous system. More than 50 genes/loci were found associated with the disease. We found a family with autosomal-dominant CMT2. OBJECTIVE: To reveal the pathogenic gene of the family and further investigate the function of the variant. METHODS: DNA underwent whole-genome linkage analysis for all family...
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