Article
Mouse model of rare TOR1A variant found in sporadic focal dystonia impairs domains affected in DYT1 dystonia patients and animal models.
Neurobiology of disease - 1 Sept 2016
Bhagat Srishti L, Qiu Sunny, Caffall Zachary F, Wan Yehong, Pan Yuanji, Rodriguiz Ramona M, Wetsel William C, Badea Alexandra, Hochgeschwender Ute, Calakos Nicole
Abstract excerpt
Rare de novo mutations in genes associated with inherited Mendelian disorders are potential contributors to sporadic disease. DYT1 dystonia is an autosomal dominant, early-onset, generalized dystonia associated with an in-frame, trinucleotide deletion (n. delGAG, p. ΔE 302/303) in the Tor1a gene. Here we examine the significance of a rare missense variant in the Tor1a gene (c. 613T>A, p. F205I), previously...
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