Genetic assessment of consecutively recruited dystonia cases from a single center.

Abstract excerpt

The genetics of dystonia have been extensively investigated in population-based and multicenter cohorts. In this study, we analyzed a consecutively recruited, single-center German dystonia cohort using whole-exome sequencing (n = 153 affected individuals [n = 152 index cases from 152 dystonia families], n = 10 unaffected family members). Pathogenic or likely pathogenic variants were identified in established...

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