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- W2040894083 abstract "Dystonia, a common and genetically heterogeneous neurological disorder, was recently defined as a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both. Via the application of whole-exome sequencing, the genetic landscape of dystonia and closely related movement disorders is becoming exposed. In particular, several novel genetic causes have been causally associated with dystonia or dystonia-related disorders over the past 2 years. These genes include PRRT2 (DYT10), CIZ1 (DYT23), ANO3 (DYT24), GNAL (DYT25), and TUBB4A (DYT4). Despite these advances, major gaps remain in identifying the genetic origins for most cases of adult-onset isolated dystonia. Furthermore, model systems are needed to study the biology of PRRT2, CIZ1, ANO3, Gαolf, and TUBB4A in the context of dystonia. This review focuses on these recent additions to the family of dystonia genes, genotype-phenotype correlations, and possible cellular contributions of the encoded proteins to the development of dystonia." @default.
- W2040894083 created "2016-06-24" @default.
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- W2040894083 date "2014-06-22" @default.
- W2040894083 modified "2023-09-26" @default.
- W2040894083 title "Recent Advances in the Genetics of Dystonia" @default.
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- W2040894083 doi "https://doi.org/10.1007/s11910-014-0462-8" @default.
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