Article
Fus gene mutations in familial and sporadic amyotrophic lateral sclerosis.
Muscle & nerve - 1 Aug 2010
Rademakers Rosa, Stewart Heather, Dejesus-Hernandez Mariely, Krieger Charles, Graff-Radford Neill, Fabros Marife, Briemberg Hannah, Cashman Neil, Eisen Andrew, Mackenzie Ian R A
Abstract excerpt
Mutations in the fused in sarcoma (FUS) gene have recently been found to cause familial amyotrophic lateral sclerosis (FALS). We screened FUS in a cohort of 200 ALS patients [32 FALS and 168 sporadic ALS (SALS)]. In one FALS proband, we identified a mutation (p.R521C) that was also present in her affected daughter. Their clinical phenotype was remarkably similar and atypical of classic ALS, with symmetric...
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