Article
Rare variants in MYH15 modify amyotrophic lateral sclerosis risk.
Human molecular genetics - 15 Jul 2019
Kim Hyerim, Lim Junghwa, Bao Han, Jiao Bin, Canon Se Min, Epstein Michael P, Xu Keqin, Jiang Jie, Parameswaran Janani, Li Yingjie, Moberg Kenneth H, Landers John E, Fournier Christina, Allen Emily G, Glass Jonathan D, Wingo Thomas S, Jin Peng
Abstract excerpt
Amyotrophic lateral sclerosis (ALS) is a fatal neurological disorder characterized by progressive muscular atrophy and respiratory failure. The G4C2 repeat expansion in the C9orf72 gene is the most prevalent genetic risk for ALS. Mutation carriers (C9ALS) display variability in phenotypes such as age-at-onset and duration, suggesting the existence of additional genetic factors. Here we introduce a three-step gene...
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