Article
Autosomal dominant inheritance of rapidly progressive amyotrophic lateral sclerosis due to a truncation mutation in the fused in sarcoma (FUS) gene.
Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Dec 2014
Kent Louisa, Vizard Thomas N, Smith Bradley N, Topp Simon D, Vance Caroline, Gkazi Athina, Miller Jack, Shaw Christopher E, Talbot Kevin
Abstract excerpt
Mutations in the gene encoding the RNA-binding protein fused in sarcoma (FUS) account for 4 - 5% of familial cases of amyotrophic lateral sclerosis (ALS). We describe the identification and in vitro cellular characterization of a genetic mutation in a family in which the index case, and subsequently her two children, each developed rapidly progressive ALS at a young age and died within a year of onset. Exome...
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