Article
Exome sequencing identifies FUS mutations as a cause of essential tremor.
American journal of human genetics - 10 Aug 2012
Merner Nancy D, Girard Simon L, Catoire Hélène, Bourassa Cynthia V, Belzil Véronique V, Rivière Jean-Baptiste, Hince Pascale, Levert Annie, Dionne-Laporte Alexandre, Spiegelman Dan, Noreau Anne, Diab Sabrina, Szuto Anna, Fournier Hélène, Raelson John, Belouchi Majid, Panisset Michel, Cossette Patrick, Dupré Nicolas, Bernard Geneviève, Chouinard Sylvain, Dion Patrick A, Rouleau Guy A
Abstract excerpt
Essential tremor (ET) is a common neurodegenerative disorder that is characterized by a postural or motion tremor. Despite a strong genetic basis, a gene with rare pathogenic mutations that cause ET has not yet been reported. We used exome sequencing to implement a simple approach to control for misdiagnosis of ET, as well as phenocopies involving sporadic and senile ET cases. We studied a large ET-affected...
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