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. 2019 Feb 26;14:57. doi: 10.1186/s13023-019-1025-5

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© The Author(s). 2019

Open AccessThis 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 — Scheme of the main pathophysiological mechanisms involved in CMS: (1) acetylcholine biosynthesis defects and vesicular transport and fusion defects; (2) AchE deficiency; (3) AchR defects; (4) agrin deficiency; (5) disorders of glycosylation; (6) channelopathies; (7) myopathies with secondary neuromuscular transmission defects; and (8) mitochondrial dysfunction; ChAT: choline acetyltransferase; ErbBR: epidermal growth factor receptor; MASC: muscle-associated specificity component; Lrp4: low-density lipoprotein receptor-related protein 4 [reproduced from Sousa et al. Arq Neuropsquiatr 2016;74:750 [24, 143] [permission applied]