Article

Association of SYNE2 variants in accelerating the progress of DYT1 early-onset isolated dystonia

2019-10-17

Abstract excerpt

DYT1 early-onset isolated dystonia (DYT1 dystonia), a rare autosomal dominant (AD) primary dystonia, is categorized as a monogenic disease. While it is a well-known AD inherited disease, the relatively low penetrance rate implicates potential modifiers in play for disease progression. In this report, an affected individual with TOR1A gene (c.907_909delGAG, p.E303del) variant, was identified along with three addit...

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Literature Corpus work: fbfb8a5e-f50c-5455-b98c-d4e0bfde6f14
DOI: 10.1101/807891

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