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Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia

10 Feb 2025

Abstract excerpt

Dystonia is a rare disease trait for which large-scale genomic investigations are still underrepresented. Genetic heterogeneity among patients with unexplained dystonia warrants interrogation of entire genome sequences, but this has not yet been systematically evaluated. To significantly enhance our understanding of the genetic contribution to dystonia, we (re)analysed 2874 whole-exome sequencing (WES), 564...

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PMID: 39937650
DOI: 10.1093/brain/awaf059

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