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. 2019 Dec 16;9:19140. doi: 10.1038/s41598-019-55745-z

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© The Author(s) 2019

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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Possible pathologic mechanism of human skeletal muscular hypotonia by R429C. In skeletal muscle, R429C (a STIM1 mutant that causes human muscular hypotonia) does not mediate SOCE, induces more intracellular Ca²⁺ movement required for skeletal muscle contraction, lowers Ca²⁺ levels in the SR, and elevates cytosolic Ca²⁺ levels along with abnormal mitochondrial shapes and functions (less ATP), which could result in skeletal muscular hypotonia in humans who carry R429C. These findings suggest that, under physiological conditions, STIM1 in skeletal muscle regulates intracellular Ca²⁺ movement as well as extracellular Ca²⁺ entry (SOCE). ECC refers to EC coupling.