Defects in skeletal myotubes caused by STIM1 I115F that lead to tubular aggregate myopathy and Stormorken syndrome, and their restoration at the cellular level.

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Title: Defects in skeletal myotubes caused by STIM1 I115F that lead to tubular aggregate myopathy and Stormorken syndrome, and their restoration at the cellular level.
Authors: Jeong SY; Department of Physiology, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.; Department of Medical Sciences, Graduate School, The Catholic University of Korea, Seoul, Republic of Korea., Lim H; Department of Physiology, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.; Department of Medical Sciences, Graduate School, The Catholic University of Korea, Seoul, Republic of Korea., Hong S; Department of Physiology, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.; Department of Medical Sciences, Graduate School, The Catholic University of Korea, Seoul, Republic of Korea., Lee EH; Department of Physiology, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.; Department of Medical Sciences, Graduate School, The Catholic University of Korea, Seoul, Republic of Korea.
Source: American journal of physiology. Cell physiology [Am J Physiol Cell Physiol] 2026 May 01; Vol. 330 (5), pp. C1443-C1456. Date of Electronic Publication: 2026 Apr 15.
Publication Type: Journal Article
Journal Info: Publisher: American Physiological Society Country of Publication: United States NLM ID: 100901225 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1522-1563 (Electronic) Linking ISSN: 03636143 NLM ISO Abbreviation: Am J Physiol Cell Physiol Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:1522-1563
DOI:10.1152/ajpcell.00024.2026