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Background
Monogenic causes of isolated dystonia are heterogeneous. Assembling cohorts of affected individuals sufficiently large to establish new gene–disease relationships can be challenging.
Objective
We sought to expand the catalogue of monogenic etiologies for isolated dystonia.
Methods
After the discovery of a candidate variant in a multicenter exome‐sequenced cohort of affected individuals...
Background
Several monogenic causes for isolated dystonia have been identified, but they collectively account for only a small proportion of cases. Two genome‐wide association studies have reported a few potential dystonia risk loci; but conclusions have been limited by small sample sizes, partial coverage of genetic variants, or poor reproducibility.
Objective
To identify robust genetic variants...
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