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. 2020 Oct 7;6(6):e521. doi: 10.1212/NXG.0000000000000521

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Copyright © 2020 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

This is an open access article distributed under the terms of the Creative Commons Attribution License 4.0 (CC BY), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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(A) Brain MRI of the proband showing hyperintense signal in T2 (blue arrows), volumetric reduction of the putamen and caudate nucleus (a and f). Spectroscopy (j) shows peak of lactate and lipids. (B) Segregation of POLR3A mutations c.1771-6C>A from the father and c.3721G>A from the mother to the proband (indicated by an arrow). (C) Chromatograms showing mutations c.1771-6C>A in heterozygosity in the father (I-1) and c.3721G>A (p.V1241M) in heterozygosity in the mother (I-2) and the presence of both in the proband (II-1). (D) Alignment of 1,241 residue of the POLR3A, species were selected from sequences obtained from a 4-iteration PSI-BlastP with default parameter research.