Article
Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia.
Movement disorders : official journal of the Movement Disorder Society - 15 Oct 2010
Sharma Nutan, Franco Ramon A, Kuster John K, Mitchell Adele A, Fuchs Tania, Saunders-Pullman Rachel, Raymond Deborah, Brin Mitchell F, Blitzer Andrew, Bressman Susan B, Ozelius Laurie J
Abstract excerpt
Polymorphisms in the TOR1A/TOR1B region have been implicated as being associated with primary focal and segmental dystonia. In a cohort of subjects with either focal or segmental dystonia affecting the face, larynx, neck, or arm, we report a strong association of a single nucleotide polymorphism (SNP), the deletion allele at the Mtdel SNP (rs3842225), and protection from focal dystonia. In contrast, we did not...
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