Article
De novo nonsense mutation of the FUS gene in an apparently familial amyotrophic lateral sclerosis case.
Neurobiology of aging - 1 Jun 2014
Calvo Andrea, Moglia Cristina, Canosa Antonio, Brunetti Maura, Barberis Marco, Traynor Bryan J, Carrara Giovanna, Valentini Consuelo, Restagno Gabriella, Chiò Adriano
Abstract excerpt
Mutations in C9ORF72, SOD1, TARDBP, and FUS genes account for approximately two-third of familial cases and 5% of sporadic amyotrophic lateral sclerosis (ALS) cases. We present the first case of an ALS patient carrying a de novo nonsense mutation in exon 14 of the FUS gene (c.1483c>t; p.R495X) with an apparently familial ALS. This mutation causes a phenotype characterized by a young age at onset, a rapid course...
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