{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T21:18:56Z","timestamp":1783113536557,"version":"3.54.6"},"reference-count":52,"publisher":"Oxford University Press (OUP)","issue":"13","license":[{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,6,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Tubular aggregate myopathy (TAM) and Stormorken syndrome (STRMK) are clinically overlapping disorders characterized by muscle weakness, thrombocytopenia, spleen anomalies and short stature. They are due to mutations affecting the Ca2+ sensor STIM1 or the Ca2+ channel ORAI1 and leading to aberrant Ca2+ homeostasis. Therapeutic approaches aiming to rebalance intracellular Ca2+ levels largely rescued the multi-systemic phenotype in Stim1R304W\/+ mice harboring the most common TAM\/STRMK mutation. However, the currently used biomarkers to follow disease progression are costly and inadequate for longitudinal studies. Here, we investigated the suitability of MYOM3 to serve as a robust blood-based biomarker for TAM\/STRMK. Using only minimal blood volumes, we detected highly elevated circulating MYOM3 levels in plasma samples from Stim1R304W\/+ mice and TAM\/STRMK patients with different mutations, and we found that the MYOM3 levels were normalized in Stim1R304W\/+ mice undergoing efficient therapies. We also identified skeletal muscle as the primary source of circulating MYOM3, a structural protein of the contractile unit in myofibers, and uncovered that MYOM3 is primarily expressed in regenerating muscle fibers and in fast-twitch type IIa fibers. Overall, this work emphasizes the utility of MYOM3 as a minimally-invasive biomarker for disorders involving myofiber degeneration, and highlights the ability of MYOM3 to detect early muscle dysfunction in TAM\/STRMK and evaluate therapeutic efficiency.<\/jats:p>","DOI":"10.1093\/hmg\/ddag059","type":"journal-article","created":{"date-parts":[[2026,6,18]],"date-time":"2026-06-18T11:45:36Z","timestamp":1781783136000},"source":"Crossref","is-referenced-by-count":0,"title":["Circulating MYOM3 fragments reflect disease severity and therapeutic efficacy in tubular aggregate myopathy and Stormorken syndrome"],"prefix":"10.1093","volume":"35","author":[{"given":"Emma","family":"Lafabrie","sequence":"first","affiliation":[{"name":"IGBMC (Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire), Inserm U1258, CNRS UMR7104, Universit\u00e9 de Strasbourg , 1 Rue Laurent Fries, Illkirch 67404 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6654-8090","authenticated-orcid":false,"given":"C\u00e9line","family":"Tard","sequence":"additional","affiliation":[{"name":"Lille Neuroscience & Cognition, Center for Rare Neuromuscular Diseases Nord\/Est\/Ile-de-France, Inserm U1172, Lille University Hospital , 2 Avenue Oscar Lambret, Lille 59037 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0242-4849","authenticated-orcid":false,"given":"Pascal","family":"Cintas","sequence":"additional","affiliation":[{"name":"Reference Center for Neuromuscular Disorders, Department of Neurology, Toulouse University Hospital , place Baylac, Toulouse 31000 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7560-9502","authenticated-orcid":false,"given":"Agn\u00e8s","family":"Ribes","sequence":"additional","affiliation":[{"name":"CRPP (Centre de R\u00e9f\u00e9rence des Pathologies Plaquettaires), Laboratory of Hematology, Toulouse University Hospital , 1 Avenue du Professeur Jean Poulh\u00e8s, Toulouse 31400 ,","place":["France"]},{"name":"I2MC (Institut des Maladies M\u00e9taboliques et Cardiovasculaires) Inserm UMR1297, University of Toulouse , 1 Avenue du Professeur Jean Poulh\u00e8s, Toulouse 31432 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8256-5862","authenticated-orcid":false,"given":"Jocelyn","family":"Laporte","sequence":"additional","affiliation":[{"name":"IGBMC (Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire), Inserm U1258, CNRS UMR7104, Universit\u00e9 de Strasbourg , 1 Rue Laurent Fries, Illkirch 67404 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8019-9504","authenticated-orcid":false,"given":"Johann","family":"B\u00f6hm","sequence":"additional","affiliation":[{"name":"IGBMC (Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire), Inserm U1258, CNRS UMR7104, Universit\u00e9 de Strasbourg , 1 Rue Laurent Fries, Illkirch 67404 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2026,7,3]]},"reference":[{"key":"2026070316420890300_ref1","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.ceca.2018.07.008","article-title":"Gain-of-function mutations in STIM1 and ORAI1 causing tubular aggregate myopathy and Stormorken syndrome","volume":"76","author":"Bohm","year":"2018","journal-title":"Cell 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