{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T15:02:48Z","timestamp":1789916568301,"version":"4.0.1"},"reference-count":15,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2026,1,19]],"date-time":"2026-01-19T00:00:00Z","timestamp":1768780800000},"content-version":"vor","delay-in-days":2812,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2018,5,9]],"date-time":"2018-05-09T00:00:00Z","timestamp":1525824000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2018,8,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Most individuals with cardiomyopathy associated with variants of the LMNA (lamin A) gene present with cardiac conduction abnormalities followed by dilated cardiomyopathy and cardiac failure; some also have skeletal muscle weakness. In this report, an individual with restrictive cardiomyopathy presenting with conduction defects followed by cardiac dysfunction of a restrictive nature eventually requiring cardiac transplantation is described. Subsequently, progressive skeletal muscle weakness became evident. The finding of a new LMNA pathologic gene variant in this patient increases the options for genetic testing of individuals with restrictive cardiomyopathy.<\/jats:p>","DOI":"10.1002\/ehf2.12294","type":"journal-article","created":{"date-parts":[[2018,5,9]],"date-time":"2018-05-09T05:35:01Z","timestamp":1525844101000},"page":"724-726","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Restrictive Cardiomyopathy: An Unusual Phenotype of a Lamin A Variant"],"prefix":"10.1093","volume":"5","author":[{"given":"Mark S.","family":"Paller","sequence":"first","affiliation":[{"name":"Department of Medicine, University of Minnesota , Minneapolis, MN ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cindy M.","family":"Martin","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of Minnesota , Minneapolis, MN ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9943-5236","authenticated-orcid":false,"given":"Mary Ella","family":"Pierpont","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Genetics and Metabolism, University of Minnesota , Minneapolis, MN ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2018,5,9]]},"reference":[{"key":"2026012115113150800_ehf212294-bib-0001","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1016\/j.cardfail.2009.01.006","article-title":"Genetic evaluation of cardiomyopathy: a Heart Failure Society of America practice guideline","volume":"15","author":"Hershberger","year":"2009","journal-title":"J Card Fail"},{"key":"2026012115113150800_ehf212294-bib-0002","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1172\/JCI200316336","article-title":"Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations","volume":"111","author":"Mogensen","year":"2003","journal-title":"J Clin Invest"},{"key":"2026012115113150800_ehf212294-bib-0003","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1111\/j.1399-0004.2008.01062.x","article-title":"Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology","volume":"74","author":"Menon","year":"2008","journal-title":"Clin Genet"},{"key":"2026012115113150800_ehf212294-bib-0004","doi-asserted-by":"crossref","first-page":"331","DOI":"10.5603\/CJ.a2014.0037","article-title":"Lamin A\/C mutations in dilated cardiomyopathy","volume":"21","author":"Tesson","year":"2014","journal-title":"Cardiol J"},{"key":"2026012115113150800_ehf212294-bib-0005","volume-title":"LMNA-related dilated cardiomyopathy","author":"Hershberger","year":"2013"},{"key":"2026012115113150800_ehf212294-bib-0006","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s10840-007-9133-x","article-title":"Malignant mutation in the lamin A\/C gene causing progressive conduction system disease and early sudden death in a family with mild form of limb-girdle muscular dystrophy","volume":"19","author":"Antoniades","year":"2007","journal-title":"J Interv Card Electrophysiol"},{"key":"2026012115113150800_ehf212294-bib-0007","doi-asserted-by":"crossref","first-page":"2121","DOI":"10.1016\/j.yexcr.2007.03.028","article-title":"\u201cLaminopathies\u201d: a wide spectrum of human diseases","volume":"313","author":"Worman","year":"2007","journal-title":"Exp Cell Res"},{"key":"2026012115113150800_ehf212294-bib-0008","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1016\/j.ymgme.2005.10.018","article-title":"Laminopathies: multisystem dystrophy syndromes","volume":"87","author":"Jacob","year":"2006","journal-title":"Mol Genet Metab"},{"key":"2026012115113150800_ehf212294-bib-0009","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1016\/j.ceb.2014.09.009","article-title":"Lamins: the structure and protein complexes","volume":"32","author":"Gruenbaum","year":"2015","journal-title":"Curr Opin Cell Biol"},{"key":"2026012115113150800_ehf212294-bib-0010","doi-asserted-by":"crossref","first-page":"560","DOI":"10.1136\/jmg.40.8.560","article-title":"Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations","volume":"40","author":"S\u00e9billon","year":"2003","journal-title":"J Med Genet"},{"key":"2026012115113150800_ehf212294-bib-0011","doi-asserted-by":"crossref","first-page":"2430","DOI":"10.1016\/j.jacc.2007.02.063","article-title":"Severe myocardial fibrosis caused by a deletion of the 5\u2032 end of the lamin A\/C gene","volume":"49","author":"Van Tintelen","year":"2007","journal-title":"J Am Coll Cardiol"},{"key":"2026012115113150800_ehf212294-bib-0012","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1016\/j.ejheart.2005.08.007","article-title":"Severe dilated cardiomyopathy and quadriceps myopathy due to lamin A\/C gene mutation: a phenotypic study","volume":"8","author":"Charniot","year":"2006","journal-title":"Eur J Heart Fail"},{"key":"2026012115113150800_ehf212294-bib-0013","doi-asserted-by":"crossref","first-page":"bcr2012007574","DOI":"10.1136\/bcr-2012-007574","article-title":"Dilated cardiomyopathy and skeletal myopathy: presenting features of a laminopathy","volume":"2013","author":"Sims-Williams","year":"2013","journal-title":"BMJ Case Rep"},{"key":"2026012115113150800_ehf212294-bib-0014","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1161\/01.CIR.101.5.473","article-title":"Lamin A\/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement","volume":"101","author":"Brodsky","year":"2000","journal-title":"Circulation"},{"key":"2026012115113150800_ehf212294-bib-0015","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1016\/j.cardfail.2013.03.001","article-title":"Temporal relationship of conduction system disease and ventricular dysfunction in LMNA cardiomyopathy","volume":"19","author":"Brodt","year":"2013","journal-title":"J Card Fail"}],"container-title":["ESC Heart Failure"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fehf2.12294","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/academic.oup.com\/eschf\/article-pdf\/5\/4\/724\/66137065\/eschf_5_4_724.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/eschf\/article-pdf\/5\/4\/724\/66137065\/eschf_5_4_724.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,21]],"date-time":"2026-01-21T20:15:09Z","timestamp":1769026509000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/eschf\/article\/5\/4\/724\/8403789"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,5,9]]},"references-count":15,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2018,5,9]]},"published-print":{"date-parts":[[2018,8,1]]}},"URL":"https:\/\/doi.org\/10.1002\/ehf2.12294","relation":{},"ISSN":["2055-5822"],"issn-type":[{"value":"2055-5822","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2018,8]]},"published":{"date-parts":[[2018,5,9]]},"assertion":[{"value":"2017-05-22","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-03-19","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-05-09","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}