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. 2020 Oct 15;7:33. doi: 10.1038/s41439-020-00120-y

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© The Author(s) 2020

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 3 — a BKS family pedigree, b variant identified in whole-exome sequencing data, c Sanger sequencing revealing variant in tRNA-valine, d variant position in mitochondrial tRNA valine. III:1 has neurological and cardiac involvement (LVNC and hypertrophy), II:4 experienced stroke at 21 years of age, III:4 and III:5 have muscle weakness and had developmental delay, III:2 has epilepsy and has experienced unexplained syncopal events. Grey symbols = individuals who have shown features consistent with mitochondrial disease however have not received a diagnosis.