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. 2021 Feb 18;12:1135. doi: 10.1038/s41467-021-21279-0

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© The Author(s) 2021

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. 1 — a Family pedigrees and segregation status of POLRMT patients. Affected individuals are depicted in black, circles represent females, squares represent males; a diagonal line through the symbol represents deceased individuals and double horizontal lines indicate consanguinity. b Diagnostic histochemical analyses (n = 2) of skeletal muscle-derived from P3 showing (i) Haematoxylin & Eosin staining (ii) SDH (iii) COX and (iv) COX-SDH reactivities. The sequential COX-SDH reaction in (iv) revealed a mosaic pattern of COX-deficiency in P3. The scale bar shown is 100 um.