{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T14:24:43Z","timestamp":1791296683852,"version":"4.1.0"},"reference-count":8,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2017,1]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>Mutations in different genes including dystrophin-associated glycoprotein complex caused familial dilated cardiomyopathy which is a genetically heterogeneous disease. The \u03b4-SG gene contains nine exons spanning a 433-kb region of genomic DNA. It encodes a 35-kDa, singlepass, and type II transmembrane glycoprotein.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Materials and Methods:<\/jats:title>\n                    <jats:p>In this study for the first time in Iran we screened 6 patients of a large family that they had positive family history of MI or sudden death by next generation sequencing method.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>By employing NGS method we found missense mutation (p.R97Q) of \u03b4-SG gene in 2 of 6 patients.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>The missense mutation (p.R97Q) in familial DCM patients is reported for the first time in Iranian patients with cardiac disease. Although this mutation is already known in other populations in Iran, it is not reported before.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/2277-9175.188492","type":"journal-article","created":{"date-parts":[[2016,8,16]],"date-time":"2016-08-16T05:19:46Z","timestamp":1471324786000},"update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":3,"title":["Mutation in \u03b4-Sg Gene in Familial Dilated Cardiomyopathy"],"prefix":"10.4103","volume":"6","author":[{"given":"Marzieh","family":"Asadi","sequence":"first","affiliation":[{"name":"From the Endocrinology and Metabolism Research Center, School of Medicine, Arak University of Medical Sciences, Arak, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roger","family":"Foo","sequence":"additional","affiliation":[{"name":"Cardiovascular Research Institute, Genome Institute of Singapore, Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmad Reza","family":"Salehi","sequence":"additional","affiliation":[{"name":"Department of Genetic and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran"},{"name":"Gerfa Namayesh Azmayesh (GENAZMA) Research Institute, Isfahan, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rasoul","family":"Salehi","sequence":"additional","affiliation":[{"name":"Department of Genetic and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran"},{"name":"Gerfa Namayesh Azmayesh (GENAZMA) Research Institute, Isfahan, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad Reza","family":"Samienasab","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Disease, School of Medicine, Isfahan University of Medical Science, Isfahan, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2017,3,7]]},"reference":[{"key":"R1-20250806","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1038\/ejhg.2013.97","article-title":"S151A d-sarcoglycan mutation causes a mild phenotype of cardiomyopathy in mice","volume":"22","author":"Rutschow","year":"2014","journal-title":"Eur J Hum Genet"},{"key":"R2-20250806","doi-asserted-by":"crossref","first-page":"1583","DOI":"10.1074\/jbc.273.3.1583","article-title":"Bidirectional signaling between sarcoglycans and the integrin adhesion system in cultured L6 myocytes","volume":"273","author":"Yoshida","year":"1998","journal-title":"J Biol Chem"},{"key":"R3-20250806","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1093\/cvr\/cvp061","article-title":"Prevention of cardiomyopathy in d-sarcoglycan knockout mice after systemic transfer of targeted adenoassociated viral vectors","volume":"82","author":"Goehringer","year":"2009","journal-title":"Cardiovasc Res"},{"key":"R4-20250806","doi-asserted-by":"crossref","first-page":"696","DOI":"10.1038\/355696a0","article-title":"Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix","volume":"355","author":"Ibraghimov-Beskrovnaya","year":"1992","journal-title":"Nature"},{"key":"R5-20250806","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1172\/JCI9224","article-title":"Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy","volume":"106","author":"Tsubata","year":"2000","journal-title":"J Clin Invest"},{"key":"R6-20250806","doi-asserted-by":"crossref","first-page":"1458","DOI":"10.1016\/0002-9149(92)90901-A","article-title":"Prevalence and etiology of idiopathic dilated cardiomyopathy (summary of a National Heart, Lung, and Blood Institute workshop)","volume":"69","author":"Manolio","year":"1992","journal-title":"Am J Cardiol"},{"key":"R7-20250806","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1161\/01.CIR.80.3.564","article-title":"Epidemiology of idiopathic dilated and hypertrophic cardiomyopathy. A population-based study in Olmsted County, Minnesota, 1975-1984","volume":"80","author":"Codd","year":"1989","journal-title":"Circulation"},{"key":"R8-20250806","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1186\/2044-5040-1-13","article-title":"\u03b4-sarcoglycan-deficient muscular dystrophy: From discovery to therapeutic approaches","volume":"1","author":"Blain","year":"2011","journal-title":"Skelet Muscle"}],"container-title":["Advanced Biomedical Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/01679891-201706000-00032","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T19:48:37Z","timestamp":1787773717000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/01679891-201706000-00032"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,1]]},"references-count":8,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2017]]}},"URL":"https:\/\/doi.org\/10.4103\/2277-9175.188492","relation":{},"ISSN":["2277-9175"],"issn-type":[{"value":"2277-9175","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,1]]},"assertion":[{"value":"2015-12-01","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2016-04-01","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}}]}}