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. 2018 Oct 12;9:400. doi: 10.3389/fgene.2018.00400

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Copyright © 2018 Theunissen, Nguyen, Kamps, Hendrickx, Sallevelt, Gottschalk, Calis, Stassen, de Koning, Mulder-Den Hartog, Schoonderwoerd, Fuchs, Hilhorst-Hofstee, de Visser, Vanoevelen, Szklarczyk, Gerards, de Coo, Hellebrekers and Smeets.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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The diagnostic yield of mtDNA and whole exome sequencing in a patient cohort consisting of 117 patients. 20% of the patients were solved with a mtDNA defect and 49% with a nuclear DNA defect, implying an overall diagnostic yield of 68%.