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. 2018 Sep 12;6:93. doi: 10.1186/s40478-018-0593-2

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© The Author(s). 2018

Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided 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 Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

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Fig. 1 — a. Hematoxilin-eosin (HE) and nicotinamide adenosine dinucleotide-tetrazolium reductase (NADH-TR) staining of muscles from the patients, showing fibers with centralized nuclei (HE) and abnormal central accumulation oxidative staining and a paler peripheral halo. Scale bars 20 μm. b. Electron microscopy of patient 1 muscle showing partial sarcomeres disorganisation and central nuclei. Scale bar 10 μm. c. Localization of presently reported mutations (dark blue) compared to known DNM2-CNM mutations (red) on the 3D model of nucleotide-free human DNM1 (PDB 3SNH). They all clusterize at the PH (yellow) – Middle/stalk (light blue) interface (green line)