{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T11:23:55Z","timestamp":1790767435907,"version":"4.1.0"},"reference-count":36,"publisher":"The Company of Biologists","issue":"4","license":[{"start":{"date-parts":[[2022,4,14]],"date-time":"2022-04-14T00:00:00Z","timestamp":1649894400000},"content-version":"vor","delay-in-days":13,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/100014865","name":"Fondation Maladies Rares","doi-asserted-by":"crossref","award":["11734"],"award-info":[{"award-number":["11734"]}],"id":[{"id":"10.13039\/100014865","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Association Fran\u00e7aise contre les Myopathies","award":["19507"],"award-info":[{"award-number":["19507"]}]},{"name":"Association Fran\u00e7aise contre les Myopathies","award":["22946"],"award-info":[{"award-number":["22946"]}]},{"DOI":"10.13039\/501100001677","name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100001677","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100004794","name":"Centre National de la Recherche Scientifique","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100004794","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100003768","name":"Universit\u00e9 de Strasbourg","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100003768","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"crossref","award":["ANR-10-LABX-0030-INRT"],"award-info":[{"award-number":["ANR-10-LABX-0030-INRT"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"crossref","award":["ANR-10-IDEX-0002-02"],"award-info":[{"award-number":["ANR-10-IDEX-0002-02"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,4,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n               <jats:p>Mutations in DNM2 cause autosomal dominant centronuclear myopathy (ADCNM), a rare disease characterized by skeletal muscle weakness and structural anomalies of the myofibres, including nuclear centralization and mitochondrial mispositioning. Following the clinical report of a Border Collie male with exercise intolerance and histopathological hallmarks of CNM on the muscle biopsy, we identified the c.1393C&amp;gt;T (R465W) mutation in DNM2, corresponding to the most common ADCNM mutation in humans. In order to establish a large animal model for longitudinal and preclinical studies on the muscle disorder, we collected sperm samples from the Border Collie male and generated a dog cohort for subsequent clinical, genetic and histological investigations. Four of the five offspring carried the DNM2 mutation and showed muscle atrophy and a mildly impaired gait. Morphological examinations of transverse muscle sections revealed CNM-typical fibres with centralized nuclei and remodelling of the mitochondrial network. Overall, the DNM2-CNM dog represents a faithful animal model for the human disorder, allows the investigation of ADCNM disease progression, and constitutes a valuable complementary tool to validate innovative therapies established in mice.<\/jats:p>","DOI":"10.1242\/dmm.049219","type":"journal-article","created":{"date-parts":[[2022,3,4]],"date-time":"2022-03-04T10:07:08Z","timestamp":1646388428000},"source":"Crossref","is-referenced-by-count":9,"title":["A dog model for centronuclear myopathy carrying the most common <i>DNM2<\/i> mutation"],"prefix":"10.1242","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8019-9504","authenticated-orcid":false,"given":"Johann","family":"B\u00f6hm","sequence":"first","affiliation":[{"name":"M\u00e9decine translationnelle et neurog\u00e9n\u00e9tique, Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (IGBMC), Inserm U 1258, CNRS UMR 7104, Universit\u00e9 de Strasbourg, 67404 Illkirch, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4747-5893","authenticated-orcid":false,"given":"In\u00e8s","family":"Barth\u00e9l\u00e9my","sequence":"additional","affiliation":[{"name":"Neuroscience et psychiatrie, Universit\u00e9 Paris-Est Cr\u00e9teil, INSERM, IMRB, 94010 Cr\u00e9teil, France"},{"name":"Ecole nationale v\u00e9t\u00e9rinaire d'Alfort, IMRB, 94700 Maisons-Alfort, France"},{"name":"EFS, IMRB, 94017 Cr\u00e9teil Cedex, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charl\u00e8ne","family":"Landwerlin","sequence":"additional","affiliation":[{"name":"M\u00e9decine translationnelle et neurog\u00e9n\u00e9tique, Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (IGBMC), Inserm U 1258, CNRS UMR 7104, Universit\u00e9 de Strasbourg, 67404 Illkirch, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4719-3834","authenticated-orcid":false,"given":"Nicolas","family":"Blanchard-Gutton","sequence":"additional","affiliation":[{"name":"Neuroscience et psychiatrie, Universit\u00e9 Paris-Est Cr\u00e9teil, INSERM, IMRB, 94010 Cr\u00e9teil, France"},{"name":"Ecole nationale v\u00e9t\u00e9rinaire d'Alfort, IMRB, 94700 Maisons-Alfort, France"},{"name":"EFS, IMRB, 94017 Cr\u00e9teil Cedex, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1270-1472","authenticated-orcid":false,"given":"Fr\u00e9d\u00e9ric","family":"Relaix","sequence":"additional","affiliation":[{"name":"Neuroscience et psychiatrie, Universit\u00e9 Paris-Est Cr\u00e9teil, INSERM, IMRB, 94010 Cr\u00e9teil, France"},{"name":"Ecole nationale v\u00e9t\u00e9rinaire d'Alfort, IMRB, 94700 Maisons-Alfort, France"},{"name":"EFS, IMRB, 94017 Cr\u00e9teil Cedex, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8982-0317","authenticated-orcid":false,"given":"St\u00e9phane","family":"Blot","sequence":"additional","affiliation":[{"name":"Neuroscience et psychiatrie, Universit\u00e9 Paris-Est Cr\u00e9teil, INSERM, IMRB, 94010 Cr\u00e9teil, France"},{"name":"Ecole nationale v\u00e9t\u00e9rinaire d'Alfort, IMRB, 94700 Maisons-Alfort, France"},{"name":"EFS, IMRB, 94017 Cr\u00e9teil Cedex, 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":"M\u00e9decine translationnelle et neurog\u00e9n\u00e9tique, Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (IGBMC), Inserm U 1258, CNRS UMR 7104, Universit\u00e9 de Strasbourg, 67404 Illkirch, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8573-8335","authenticated-orcid":false,"given":"Laurent","family":"Tiret","sequence":"additional","affiliation":[{"name":"Neuroscience et psychiatrie, Universit\u00e9 Paris-Est Cr\u00e9teil, INSERM, IMRB, 94010 Cr\u00e9teil, France"},{"name":"Ecole nationale v\u00e9t\u00e9rinaire d'Alfort, IMRB, 94700 Maisons-Alfort, France"},{"name":"EFS, IMRB, 94017 Cr\u00e9teil Cedex, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"237","published-online":{"date-parts":[[2022,4,14]]},"reference":[{"key":"2022041409304105000_DMM049219C1","doi-asserted-by":"publisher","first-page":"147","DOI":"10.1590\/S1415-4757382220140238","article-title":"DNM2 mutations in a cohort of sporadic patients with centronuclear myopathy","volume":"38","author":"Abath Neto","year":"2015","journal-title":"Genet. 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