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. 2020 Dec 15;89(3):485–497. doi: 10.1002/ana.25973

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© 2020 The Authors. Annals of Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.

This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.

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Pedigrees and genetic analyses. (A–E) Pedigrees of the patients with EIF2AK2 variants. Subjects with DNA available are labeled with individual codes; filled symbols denote individuals affected with generalized dystonia; half‐filled symbol indicates right arm and hand dystonia; top‐right quarter‐filled symbol indicates history of mild foot dystonia and asymptomatic upon examination; top‐left quarter‐filled symbol indicates mild bilateral hand tremor; M/M, homozygous carrier of denoted variant; M/−, heterozygous carrier; −/−, wild‐type. (F) Autosomal dominant and X‐linked linkage analysis plots. LOD = logarithm of odds. (G) Linkage analysis plot for chromosome 2 and location of the EIF2AK2 gene. (H) Schematic representation of the EIF2AK2 protein, with functional domains and the relative positions of variants identified in this study. [Color figure can be viewed at www.annalsofneurology.org]