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The genetic causes are diverse; central core disease is most often caused by mutations in ryanodine receptor 1 (RYR1), whereas multi-minicore disease is linked to pathogenic variants of several genes, including selenoprotein N (SELENON), RYR1 and titin (TTN). Understanding the mechanisms that drive core development and muscle weakness remains challenging due to the diversity of the excitation-contraction coupling (ECC) proteins involved and the differential effects of mutations across proteins. Because of this, the use of representative models expressing a mature ECC apparatus is crucial. Animal models have facilitated the identification of disease progression mechanisms for some mutations and have provided evidence to help explain genotype-phenotype correlations. However, many unanswered questions remain about the common and divergent pathological mechanisms that drive disease progression, and these mechanisms need to be understood in order to identify therapeutic targets. Several new transgenic animals have been described recently, expanding the spectrum of core myopathy models, including mice with patient-specific mutations. Furthermore, recent developments in 3D tissue engineering are expected to enable the study of core myopathy disease progression and the effects of potential therapeutic interventions in the context of human cells. In this Review, we summarize the current landscape of core myopathy models, and assess the hurdles and opportunities of future modeling strategies.<\/jats:p>","DOI":"10.1242\/dmm.041368","type":"journal-article","created":{"date-parts":[[2019,12,19]],"date-time":"2019-12-19T19:55:10Z","timestamp":1576785310000},"source":"Crossref","is-referenced-by-count":19,"title":["Cored in the act: the use of models to understand core myopathies"],"prefix":"10.1242","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8356-7947","authenticated-orcid":false,"given":"Aurora","family":"Fusto","sequence":"first","affiliation":[{"name":"Department of Neuroscience, University of Padua, Padua 35128, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1868-0900","authenticated-orcid":false,"given":"Louise A.","family":"Moyle","sequence":"additional","affiliation":[{"name":"Donnelly Centre, University of Toronto, Toronto, ON M5S3E1, Canada"},{"name":"Institute of Biomaterials and Biochemical Engineering, University of Toronto, Toronto, ON M5S3G9, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5509-9616","authenticated-orcid":false,"given":"Penney M.","family":"Gilbert","sequence":"additional","affiliation":[{"name":"Donnelly Centre, University of Toronto, Toronto, ON M5S3E1, Canada"},{"name":"Institute of Biomaterials and Biochemical Engineering, University of Toronto, Toronto, ON M5S3G9, Canada"},{"name":"Department of Cell and Systems Biology, University of Toronto, Toronto, ON M5S3G5, Canada"},{"name":"Department of Biochemistry, University of Toronto, Toronto, ON M5S1A8, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7740-4156","authenticated-orcid":false,"given":"Elena","family":"Pegoraro","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, University of Padua, Padua 35128, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"237","published-online":{"date-parts":[[2019,12,19]]},"reference":[{"key":"2021042700241375700_DMM041368C1","doi-asserted-by":"publisher","first-page":"149","DOI":"10.5966\/sctm.2013-0095","article-title":"Myogenic differentiation of muscular dystrophy-specific induced pluripotent stem cells for use in drug discovery","volume":"3","author":"Abujarour","year":"2014","journal-title":"Stem Cell. 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