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A primary cause of EDMD is loss of function of the X-chromosome gene emerin (EMD). Although emerin mutations were discovered over three decades ago, X-linked EDMD (X-EDMD) remains understudied largely due to the absence of an animal model with pathological features found in humans. Here, we show that rats lacking emerin (EMD(\u2212\/y)) develop motor issues and suddenly die, a major risk factor for patients with X-EDMD. Additionally, EMD(\u2212\/y) rats present with other hallmarks of X-EDMD. We found significant fibrosis, abnormal nuclear morphologies, functional deficits and left ventricular wall thinning in the heart of EMD(\u2212\/y) rats. Skeletal muscles of EMD(\u2212\/y) rats also exhibit altered myonuclei morphology in addition to reduced muscle fiber size. In both cardiac and skeletal muscles of EMD(\u2212\/y) rats, we identified altered expression of genes with roles in the cytoskeleton, fibrosis, and muscle contraction. Some of these genes have been previously found to be dysregulated in human muscles lacking emerin. Altogether, these findings identify EMD(\u2212\/y) rats as a preclinical model of X-EDMD that phenocopies many aspects of the disease in humans. This work also revealed genes that could potentially be used as biomarkers and targets to treat X-EDMD.<\/jats:p>","DOI":"10.1093\/hmg\/ddag029","type":"journal-article","created":{"date-parts":[[2026,3,28]],"date-time":"2026-03-28T12:49:04Z","timestamp":1774702144000},"source":"Crossref","is-referenced-by-count":1,"title":["Rats lacking emerin develop muscle pathologies and molecular alterations found in humans with X-linked EDMD"],"prefix":"10.1093","volume":"35","author":[{"given":"Mikayla C","family":"Lopes","sequence":"first","affiliation":[{"name":"Molecular Biology, Cell Biology, & Biochemistry Graduate Program, Brown University , 185 Meeting S, Providence, RI, 02912 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary Flordelys","family":"Avila","sequence":"additional","affiliation":[{"name":"Pathobiology Graduate Program, Brown University , 185 Meeting St, Providence, RI, 02912 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arvin","family":"Soepriatna","sequence":"additional","affiliation":[{"name":"School of Engineering, Institute for Biology, Engineering, and Medicine, Brown University , 184 Hope St, Providence 02912, RI, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cora C","family":"Hart","sequence":"additional","affiliation":[{"name":"Department of Pharmacology & Therapeutics and Myology Institute, University of Florida , 1200 Newell Drive, Gainesville, FL 32610, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Taetzsch","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology, Cell Biology and Biochemistry, Brown University , 185 Meeting St, Providence, RI 02912, \u00a0","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kareen","family":"Coulombe","sequence":"additional","affiliation":[{"name":"School of Engineering, Institute for Biology, Engineering, and Medicine, Brown University , 184 Hope St, Providence 02912, RI, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2129-4047","authenticated-orcid":false,"given":"David W","family":"Hammers","sequence":"additional","affiliation":[{"name":"Department of Pharmacology & Therapeutics and Myology Institute, University of Florida , 1200 Newell Drive, Gainesville, FL 32610, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0375-4532","authenticated-orcid":false,"given":"Gregorio","family":"Valdez","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology, Cell Biology and Biochemistry, Brown University , 185 Meeting St, Providence, RI 02912, \u00a0","place":["United States"]},{"name":"Center for Translational Neuroscience, Robert J. and Nancy D. Carney Institute for Brain Science, and Center on the Biology of Aging, Brown University , 187 Meeting St Providence, RI 02912, \u00a0","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2026,4,16]]},"reference":[{"key":"2026051101365898100_ref1","doi-asserted-by":"publisher","first-page":"436","DOI":"10.1002\/mus.26782","article-title":"Emery-Dreifuss muscular dystrophy","volume":"61","author":"Heller","year":"2020","journal-title":"Muscle Nerve"},{"key":"2026051101365898100_ref2","doi-asserted-by":"publisher","first-page":"163","DOI":"10.1017\/cjn.2015.311","article-title":"A systematic review and meta-analysis on the epidemiology of the muscular dystrophies","volume":"43","author":"Mah","year":"2015","journal-title":"Can J Neurol Sci"},{"key":"2026051101365898100_ref3","doi-asserted-by":"publisher","volume":"11","journal-title":"Biology (Basel)","DOI":"10.3390\/biology11040530"},{"key":"2026051101365898100_ref4","doi-asserted-by":"publisher","first-page":"1661","DOI":"10.1046\/j.1460-9592.2000.01661.x","article-title":"High incidence of sudden death with conduction system and myocardial disease due to Lamins a and C gene mutation","volume":"23","author":"B\u00e9cane","year":"2000","journal-title":"Pacing Clin Electrophysiol"},{"key":"2026051101365898100_ref5","doi-asserted-by":"publisher","first-page":"321","DOI":"10.1080\/19491034.2018.1460044","article-title":"Mechanotransduction, nuclear architecture and epigenetics in emery dreifuss muscular dystrophy: Tous pour un, un pour Tous. 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