Article

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing

2024-12-05

Abstract excerpt

Dystonia is one of the most prevalent movement disorders, characterized by significant clinical and etiological heterogeneity. Despite considerable heritability (∼25%) and the identification of several disease-linked genes, the etiology in most patients remains elusive. Moreover, understanding the correlations between clinical manifestation and genetic variants has become increasingly complex. To comprehensively u...

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Literature Corpus work: 9b21ce88-a6e3-5ffc-b70a-3ed49177094e
DOI: 10.1101/2024.12.02.24316741

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