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. 2017 Oct 12;5:219. doi: 10.3389/fped.2017.00219

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Copyright © 2017 Burger, Rose, Bennuri, Gill, Tippett, Delhey, Melnyk and Frye.

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) or licensor 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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Measurements of electron transport chain function for child with WDR45 mutation in muscle (A–H) and fibroblasts (I–P). The left most panel for muscle (A) and fibroblast (I) samples provide the measurements of each complex as percent of normal, which is the standard clinical presentation of values. Measurement of activity of each complex is then displayed in relation to the normal range of values. The mean and 95% limits of the normal distribution are displayed so that the activity measurements that are clearly outside of the normal range can be seen. Activity values are not normalized to citrate synthase (CS) since CS is close to control average values. RS, Rotenone Sensitive.