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MDSGene : Extending the List of Isolated Dystonia Genes by VPS16 , EIF2AK2 , and AOPEP

20 Jan 2023

Abstract excerpt

Following MDSGene's protocol, seven genes linked to isolated dystonia were recently reviewed.1 Since then, pathogenic variants in three additional genes, VPS16,2 EIF2AK2,3, 4 and AOPEP,5, 6 have unequivocally been shown to cause isolated dystonia.7 In this letter, we summarize phenotypic and genetic data from 15 publications reporting on 56 dystonia patients carrying pathogenic variants in these genes (see...

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PMID: 36670070
DOI: 10.1002/mds.29327

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