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The symptoms are mainly induced by high\u2010intensity sports.\n                        <\/jats:p>\n                      <\/jats:list-item>\n                      <jats:list-item>\n                        <jats:p>\n                          Two previously undescribed\n                          <jats:italic>OBSCN<\/jats:italic>\n                          variants have been identified as being associated with exercise intolerance, myotonic discharges and core\u2010like lesions in the muscle biopsy.\n                        <\/jats:p>\n                      <\/jats:list-item>\n                      <jats:list-item>\n                        <jats:p>\n                          Proteomic analysis of skeletal muscle reveals that the pathogenicity of the\n                          <jats:italic>OBSCN<\/jats:italic>\n                          variants is associated with dysregulated proteins that control Ca\n                          <jats:sup>2+<\/jats:sup>\n                          handling and the extrasarcomeric cytoskeleton.\n                        <\/jats:p>\n                      <\/jats:list-item>\n                    <\/jats:list>\n                  <\/jats:p>","DOI":"10.1111\/nan.70065","type":"journal-article","created":{"date-parts":[[2026,2,6]],"date-time":"2026-02-06T06:20:28Z","timestamp":1770358828000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Myopathy With Exercise\u2010Induced Intolerance due to Novel Biallelic Variants in\n                    <i>OBSCN<\/i>\n                    \u2014A Clinical, Morphological and Molecular Analysis"],"prefix":"10.1111","volume":"52","author":[{"given":"Heidrun\u00a0H.","family":"Kr\u00e4mer\u2010Best","sequence":"first","affiliation":[{"name":"Department of Neurology Justus\u2010Liebig\u2010University Giessen  Giessen Germany"},{"name":"Translational Neuroscience Network Giessen (TNNG) Justus\u2010Liebig\u2010University Giessen  Giessen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marlen\u00a0C.","family":"Reis","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Justus\u2010Liebig\u2010University Giessen  Giessen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreas","family":"Hentschel","sequence":"additional","affiliation":[{"name":"Leibnitz\u2010Institut f\u00fcr Analytische Wissenschaften\u2014ISAS\u2014e.V.  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