{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T17:42:03Z","timestamp":1793036523960,"version":"4.5.0"},"reference-count":85,"publisher":"Public Library of Science (PLoS)","issue":"7","license":[{"start":{"date-parts":[[2017,7,27]],"date-time":"2017-07-27T00:00:00Z","timestamp":1501113600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100009886","name":"Regione Puglia","doi-asserted-by":"crossref","award":["MTJU9H8"],"award-info":[{"award-number":["MTJU9H8"]}],"id":[{"id":"10.13039\/501100009886","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Institute of Cardiology grant","award":["00474210Lib03"],"award-info":[{"award-number":["00474210Lib03"]}]}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0181842","type":"journal-article","created":{"date-parts":[[2017,7,27]],"date-time":"2017-07-27T17:45:45Z","timestamp":1501177545000},"page":"e0181842","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":41,"title":["Targeted next-generation sequencing detects novel gene\u2013phenotype associations and expands the mutational spectrum in cardiomyopathies"],"prefix":"10.1371","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9452-4037","authenticated-orcid":true,"given":"Cinzia","family":"Forleo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna Maria","family":"D\u2019Erchia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandro","family":"Sorrentino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caterina","family":"Manzari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matteo","family":"Chiara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Massimo","family":"Iacoviello","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea Igoren","family":"Guaricci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Delia","family":"De Santis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rita Leonarda","family":"Musci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonino","family":"La Spada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vito","family":"Marangelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Graziano","family":"Pesole","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"Favale","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2017,7,27]]},"reference":[{"issue":"2","key":"ref1","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1093\/eurheartj\/ehm342","article-title":"Classification of the cardiomyopathies: a position statement from the European Society Of Cardiology Working Group on Myocardial and Pericardial Diseases","volume":"29","author":"P Elliott","year":"2008","journal-title":"Eur Heart J"},{"issue":"14","key":"ref2","doi-asserted-by":"crossref","first-page":"1807","DOI":"10.1161\/CIRCULATIONAHA.106.174287","article-title":"Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention","volume":"113","author":"BJ Maron","year":"2006","journal-title":"Circulation"},{"issue":"39","key":"ref3","doi-asserted-by":"crossref","first-page":"2733","DOI":"10.1093\/eurheartj\/ehu284","article-title":"2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC)","volume":"35","author":"PM Elliott","year":"2014","journal-title":"Eur Heart J"},{"issue":"9424","key":"ref4","doi-asserted-by":"crossref","first-page":"1881","DOI":"10.1016\/S0140-6736(04)16358-7","article-title":"Hypertrophic cardiomyopathy","volume":"363","author":"P Elliott","year":"2004","journal-title":"Lancet"},{"issue":"6","key":"ref5","doi-asserted-by":"crossref","first-page":"660","DOI":"10.1161\/CIRCRESAHA.113.300282","article-title":"Genetic cardiomyopathies causing heart failure","volume":"113","author":"TJ Cahill","year":"2013","journal-title":"Circ Res"},{"issue":"9862","key":"ref6","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1016\/S0140-6736(12)60397-3","article-title":"Hypertrophic cardiomyopathy","volume":"381","author":"BJ Maron","year":"2013","journal-title":"Lancet"},{"issue":"7","key":"ref7","doi-asserted-by":"crossref","first-page":"806","DOI":"10.1093\/eurheartj\/ehq025","article-title":"Diagnosis of arrhythmogenic right ventricular cardiomyopathy\/dysplasia: proposed modification of the Task Force Criteria","volume":"31","author":"FI Marcus","year":"2010","journal-title":"Eur Heart J"},{"issue":"13","key":"ref8","doi-asserted-by":"crossref","first-page":"1593","DOI":"10.1001\/jama.296.13.1593","article-title":"Trends in sudden cardiovascular death in young competitive athletes after implementation of a preparticipation screening program","volume":"296","author":"D Corrado","year":"2006","journal-title":"JAMA"},{"issue":"3","key":"ref9","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1056\/NEJM198801213180301","article-title":"Right ventricular cardiomyopathy and sudden death in young people","volume":"318","author":"G Thiene","year":"1988","journal-title":"N Engl J Med"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1146\/annurev.med.052208.130419","article-title":"Arrhythmogenic cardiomyopathy: etiology, diagnosis, and treatment","volume":"61","author":"S Sen-Chowdhry","year":"2010","journal-title":"Annu Rev Med"},{"issue":"2","key":"ref11","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1016\/j.jmoldx.2012.09.002","article-title":"Inherited cardiomyopathies: molecular genetics and clinical genetic testing in the postgenomic era","volume":"15","author":"P Teekakirikul","year":"2013","journal-title":"J Mol Diagn"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1186\/s13023-016-0407-1","article-title":"Arrhythmogenic cardiomyopathy","volume":"11","author":"K Pilichou","year":"2016","journal-title":"Orphanet J Rare Dis"},{"issue":"10","key":"ref13","doi-asserted-by":"crossref","first-page":"2347","DOI":"10.1253\/circj.CJ-14-0893","article-title":"Inherited cardiomyopathies","volume":"78","author":"JA Towbin","year":"2014","journal-title":"Circ J"},{"issue":"16","key":"ref14","doi-asserted-by":"crossref","first-page":"1641","DOI":"10.1016\/j.jacc.2011.01.015","article-title":"Update 2011: clinical and genetic issues in familial dilated cardiomyopathy","volume":"57","author":"RE Hershberger","year":"2011","journal-title":"J Am Coll Cardiol"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1016\/j.ijcard.2016.09.068","article-title":"Genetic basis of dilated cardiomyopathy","volume":"224","author":"A Perez-Serra","year":"2016","journal-title":"Int J Cardiol"},{"issue":"6","key":"ref16","doi-asserted-by":"crossref","first-page":"1479","DOI":"10.3892\/ijmm.2015.2361","article-title":"Targeted next-generation sequencing of candidate genes reveals novel mutations in patients with dilated cardiomyopathy","volume":"36","author":"Y Zhao","year":"2015","journal-title":"Int J Mol Med"},{"issue":"7","key":"ref17","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1056\/NEJMoa1110186","article-title":"Truncations of titin causing dilated cardiomyopathy","volume":"366","author":"DS Herman","year":"2012","journal-title":"N Engl J Med"},{"issue":"5","key":"ref18","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1016\/j.amjcard.2014.05.065","article-title":"Significance of sarcomere gene mutations analysis in the end-stage phase of hypertrophic cardiomyopathy","volume":"114","author":"E Biagini","year":"2014","journal-title":"Am J Cardiol"},{"issue":"25","key":"ref19","doi-asserted-by":"crossref","first-page":"2703","DOI":"10.1016\/j.jacc.2011.10.825","article-title":"2011 ACCF\/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: executive summary: a report of the American College of Cardiology Foundation\/American Heart Association Task Force on Practice Guidelines","volume":"58","author":"BJ Gersh","year":"2011","journal-title":"J Am Coll Cardiol"},{"key":"ref20","first-page":"195","article-title":"Genetics of hypertrophic cardiomyopathy: advances and pitfalls in molecular diagnosis and therapy","volume":"7","author":"C Roma-Rodrigues","year":"2014","journal-title":"Appl Clin Genet"},{"issue":"5","key":"ref21","doi-asserted-by":"crossref","first-page":"901","DOI":"10.1253\/circj.CJ-15-0288","article-title":"Arrhythmogenic right ventricular dysplasia\/cardiomyopathy-three decades of progress","volume":"79","author":"H Calkins","year":"2015","journal-title":"Circ J"},{"issue":"4","key":"ref22","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1161\/CIRCGENETICS.109.935262","article-title":"Mutational heterogeneity, modifier genes, and environmental influences contribute to phenotypic diversity of arrhythmogenic cardiomyopathy","volume":"3","author":"S Sen-Chowdhry","year":"2010","journal-title":"Circ Cardiovasc Genet"},{"issue":"17","key":"ref23","doi-asserted-by":"crossref","first-page":"1643","DOI":"10.1056\/NEJMra0902923","article-title":"Inherited cardiomyopathies","volume":"364","author":"H Watkins","year":"2011","journal-title":"N Engl J Med"},{"issue":"5","key":"ref24","doi-asserted-by":"crossref","first-page":"1122","DOI":"10.1161\/CIRCEP.115.002745","article-title":"Identification and Functional Characterization of a Novel CACNA1C-Mediated Cardiac Disorder Characterized by Prolonged QT Intervals With Hypertrophic Cardiomyopathy, Congenital Heart Defects, and Sudden Cardiac Death","volume":"8","author":"NJ Boczek","year":"2015","journal-title":"Circ Arrhythm Electrophysiol"},{"issue":"12","key":"ref25","doi-asserted-by":"crossref","first-page":"1797","DOI":"10.1038\/ejhg.2016.118","article-title":"Genetic investigation of 100 heart genes in sudden unexplained death victims in a forensic setting","volume":"24","author":"SL Christiansen","year":"2016","journal-title":"Eur J Hum Genet"},{"issue":"4","key":"ref26","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1136\/heartjnl-2014-306387","article-title":"Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy","volume":"101","author":"LR Lopes","year":"2015","journal-title":"Heart"},{"issue":"15","key":"ref27","doi-asserted-by":"crossref","first-page":"2163","DOI":"10.1161\/01.CIR.0000144458.58660.BB","article-title":"SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia","volume":"110","author":"WP McNair","year":"2004","journal-title":"Circulation"},{"issue":"21","key":"ref28","doi-asserted-by":"crossref","first-page":"2160","DOI":"10.1016\/j.jacc.2010.09.084","article-title":"SCN5A mutations associate with arrhythmic dilated cardiomyopathy and commonly localize to the voltage-sensing mechanism","volume":"57","author":"WP McNair","year":"2011","journal-title":"J Am Coll Cardiol"},{"issue":"3","key":"ref29","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1093\/hmg\/10.3.189","article-title":"Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2)","volume":"10","author":"N Tiso","year":"2001","journal-title":"Hum Mol Genet"},{"issue":"8","key":"ref30","doi-asserted-by":"crossref","first-page":"1077","DOI":"10.1093\/europace\/eur245","article-title":"HRS\/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA)","volume":"13","author":"MJ Ackerman","year":"2011","journal-title":"Europace"},{"issue":"6","key":"ref31","doi-asserted-by":"crossref","first-page":"566","DOI":"10.1007\/s11936-010-0092-7","article-title":"Use of genetics in the clinical evaluation and management of heart failure","volume":"12","author":"DP Judge","year":"2010","journal-title":"Curr Treat Options Cardiovasc Med"},{"issue":"41","key":"ref32","doi-asserted-by":"crossref","first-page":"2793","DOI":"10.1093\/eurheartj\/ehv316","article-title":"2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: The Task Force for the Management of Patients with Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death of the European Society of Cardiology (ESC). Endorsed by: Association for European Paediatric and Congenital Cardiology (AEPC)","volume":"36","author":"SG Priori","year":"2015","journal-title":"Eur Heart J"},{"issue":"1","key":"ref33","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1016\/j.hrthm.2009.09.070","article-title":"Multiple mutations in desmosomal proteins encoding genes in arrhythmogenic right ventricular cardiomyopathy\/dysplasia","volume":"7","author":"B Bauce","year":"2010","journal-title":"Heart Rhythm"},{"issue":"14","key":"ref34","doi-asserted-by":"crossref","first-page":"1444","DOI":"10.1016\/j.jacc.2009.11.062","article-title":"Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations","volume":"55","author":"F Girolami","year":"2010","journal-title":"J Am Coll Cardiol"},{"issue":"1","key":"ref35","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1007\/s11897-012-0124-6","article-title":"Genetic testing in the contemporary diagnosis of cardiomyopathy","volume":"10","author":"AC Sturm","year":"2013","journal-title":"Curr Heart Fail Rep"},{"issue":"10","key":"ref36","doi-asserted-by":"crossref","first-page":"288","DOI":"10.4330\/wjc.v4.i10.288","article-title":"Next generation sequencing in cardiovascular diseases","volume":"4","author":"F Faita","year":"2012","journal-title":"World J Cardiol"},{"issue":"5","key":"ref37","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1161\/01.CIR.93.5.841","article-title":"Report of the 1995 World Health Organization\/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies","volume":"93","author":"P Richardson","year":"1996","journal-title":"Circulation"},{"issue":"2","key":"ref38","first-page":"93","article-title":"Guidelines for the study of familial dilated cardiomyopathies. Collaborative Research Group of the European Human and Capital Mobility Project on Familial Dilated Cardiomyopathy","volume":"20","author":"L Mestroni","year":"1999","journal-title":"Eur Heart J"},{"issue":"7","key":"ref39","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1016\/j.amjmed.2004.04.012","article-title":"Association of beta-adrenergic receptor polymorphisms and progression to heart failure in patients with idiopathic dilated cardiomyopathy","volume":"117","author":"C Forleo","year":"2004","journal-title":"Am J Med"},{"issue":"8","key":"ref40","doi-asserted-by":"crossref","first-page":"589","DOI":"10.2459\/01.JCM.0000281710.51304.03","article-title":"Beta1- and beta2-adrenergic receptor polymorphisms affect susceptibility to idiopathic dilated cardiomyopathy","volume":"8","author":"C Forleo","year":"2007","journal-title":"J Cardiovasc Med (Hagerstown)"},{"issue":"3","key":"ref41","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1016\/j.jacc.2007.02.071","article-title":"Ventricular repolarization dynamicity provides independent prognostic information toward major arrhythmic events in patients with idiopathic dilated cardiomyopathy","volume":"50","author":"M Iacoviello","year":"2007","journal-title":"J Am Coll Cardiol"},{"issue":"25","key":"ref42","doi-asserted-by":"crossref","first-page":"e212","DOI":"10.1016\/j.jacc.2011.06.011","article-title":"2011 ACCF\/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy: a report of the American College of Cardiology Foundation\/American Heart Association Task Force on Practice Guidelines. Developed in collaboration with the American Association for Thoracic Surgery, American Society of Echocardiography, American Society of Nuclear Cardiology, Heart Failure Society of America, Heart Rhythm Society, Society for Cardiovascular Angiography and Interventions, and Society of Thoracic Surgeons","volume":"58","author":"BJ Gersh","year":"2011","journal-title":"J Am Coll Cardiol"},{"issue":"9","key":"ref43","doi-asserted-by":"crossref","first-page":"1687","DOI":"10.1016\/S0735-1097(03)00941-0","article-title":"American College of Cardiology\/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines","volume":"42","author":"BJ Maron","year":"2003","journal-title":"J Am Coll Cardiol"},{"issue":"3","key":"ref44","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1136\/hrt.71.3.215","article-title":"Diagnosis of arrhythmogenic right ventricular dysplasia\/cardiomyopathy. Task Force of the Working Group Myocardial and Pericardial Disease of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the International Society and Federation of Cardiology","volume":"71","author":"WJ McKenna","year":"1994","journal-title":"Br Heart J"},{"issue":"13","key":"ref45","doi-asserted-by":"crossref","first-page":"1533","DOI":"10.1161\/CIRCULATIONAHA.108.840827","article-title":"Diagnosis of arrhythmogenic right ventricular cardiomyopathy\/dysplasia: proposed modification of the task force criteria","volume":"121","author":"FI Marcus","year":"2010","journal-title":"Circulation"},{"key":"ref46","article-title":"ODESSA: A high performance analysis pipeline for Ultra Deep targeted Exome Sequencing data","author":"M D'Antonio","year":"2014","journal-title":"IEEE HPCS 2014"},{"key":"ref47","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1016\/j.fsigen.2015.07.010","article-title":"Massive parallel sequencing applied to the molecular autopsy in sudden cardiac death in the young","volume":"18","author":"M Brion","year":"2015","journal-title":"Forensic Sci Int Genet"},{"issue":"11","key":"ref48","doi-asserted-by":"crossref","DOI":"10.1161\/JAHA.115.002645","article-title":"Role of Titin Missense Variants in Dilated Cardiomyopathy","volume":"4","author":"RL Begay","year":"2015","journal-title":"J Am Heart Assoc"},{"key":"ref49","doi-asserted-by":"crossref","first-page":"21","DOI":"10.3389\/fcvm.2016.00021","article-title":"A Review of the Giant Protein Titin in Clinical Molecular Diagnostics of Cardiomyopathies","volume":"3","author":"M Gigli","year":"2016","journal-title":"Front Cardiovasc Med"},{"issue":"1","key":"ref50","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1111\/cge.12741","article-title":"Relevance of truncating titin mutations in dilated cardiomyopathy","volume":"90","author":"O Akinrinade","year":"2016","journal-title":"Clin Genet"},{"issue":"12","key":"ref51","doi-asserted-by":"crossref","first-page":"e0145284","DOI":"10.1371\/journal.pone.0145284","article-title":"Prevalence of Titin Truncating Variants in General Population","volume":"10","author":"O Akinrinade","year":"2015","journal-title":"PLoS One"},{"issue":"4","key":"ref52","doi-asserted-by":"crossref","first-page":"e0121723","DOI":"10.1371\/journal.pone.0121723","article-title":"Clinical and functional characterization of a novel mutation in lamin a\/c gene in a multigenerational family with arrhythmogenic cardiac laminopathy","volume":"10","author":"C Forleo","year":"2015","journal-title":"PLoS One"},{"issue":"5","key":"ref53","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"S Richards","year":"2015","journal-title":"Genet Med"},{"issue":"9","key":"ref54","doi-asserted-by":"crossref","first-page":"e0138568","DOI":"10.1371\/journal.pone.0138568","article-title":"OBSCN Mutations Associated with Dilated Cardiomyopathy and Haploinsufficiency","volume":"10","author":"S Marston","year":"2015","journal-title":"PLoS One"},{"key":"ref55","doi-asserted-by":"crossref","first-page":"55","DOI":"10.3389\/fgene.2015.00055","article-title":"Application of Next Generation Sequencing for personalized medicine for sudden cardiac death","volume":"6","author":"E Morini","year":"2015","journal-title":"Front Genet"},{"issue":"4","key":"ref56","doi-asserted-by":"crossref","first-page":"1111","DOI":"10.3892\/ijmm.2016.2732","article-title":"Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy","volume":"38","author":"M Cecconi","year":"2016","journal-title":"Int J Mol Med"},{"issue":"6","key":"ref57","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1161\/CIRCGENETICS.113.000578","article-title":"Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy","volume":"7","author":"JR Golbus","year":"2014","journal-title":"Circ Cardiovasc Genet"},{"issue":"10","key":"ref58","doi-asserted-by":"crossref","first-page":"25773","DOI":"10.3390\/ijms161025773","article-title":"Rare Titin (TTN) Variants in Diseases Associated with Sudden Cardiac Death","volume":"16","author":"O Campuzano","year":"2015","journal-title":"Int J Mol Sci"},{"issue":"2","key":"ref59","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1016\/j.bbrc.2007.07.183","article-title":"Structural analysis of obscurin gene in hypertrophic cardiomyopathy","volume":"362","author":"T Arimura","year":"2007","journal-title":"Biochem Biophys Res Commun"},{"issue":"20","key":"ref60","doi-asserted-by":"crossref","first-page":"2237","DOI":"10.1016\/j.jacc.2016.08.052","article-title":"Obscurin Variants in Patients With Left Ventricular Noncompaction","volume":"68","author":"TJ Rowland","year":"2016","journal-title":"J Am Coll Cardiol"},{"issue":"4","key":"ref61","doi-asserted-by":"crossref","first-page":"1217","DOI":"10.1152\/physrev.00017.2009","article-title":"Muscle giants: molecular scaffolds in sarcomerogenesis","volume":"89","author":"A Kontrogianni-Konstantopoulos","year":"2009","journal-title":"Physiol Rev"},{"issue":"6","key":"ref62","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1002\/iub.1157","article-title":"Obscurins: unassuming giants enter the spotlight","volume":"65","author":"NA Perry","year":"2013","journal-title":"IUBMB Life"},{"key":"ref63","article-title":"Obscurin variants and inherited cardiomyopathies","author":"S Marston","year":"2017","journal-title":"Biophys Rev"},{"issue":"7","key":"ref64","doi-asserted-by":"crossref","first-page":"1760","DOI":"10.1016\/S0735-1097(00)00650-1","article-title":"Prevalence and characteristics of dystrophin defects in adult male patients with dilated cardiomyopathy","volume":"35","author":"E Arbustini","year":"2000","journal-title":"J Am Coll Cardiol"},{"issue":"9","key":"ref65","doi-asserted-by":"crossref","first-page":"925","DOI":"10.1016\/j.jacc.2011.01.072","article-title":"Diagnostic work-up and risk stratification in X-linked dilated cardiomyopathies caused by dystrophin defects","volume":"58","author":"M Diegoli","year":"2011","journal-title":"J Am Coll Cardiol"},{"issue":"12","key":"ref66","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1016\/S1474-4422(03)00585-4","article-title":"Dystrophin and mutations: one gene, several proteins, multiple phenotypes","volume":"2","author":"F Muntoni","year":"2003","journal-title":"Lancet Neurol"},{"issue":"3","key":"ref67","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1038\/sj.ejhg.5201980","article-title":"Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3","volume":"16","author":"A Kuhl","year":"2008","journal-title":"Eur J Hum Genet"},{"issue":"5","key":"ref68","doi-asserted-by":"crossref","first-page":"684","DOI":"10.1002\/1531-8249(199911)46:5<684::AID-ANA2>3.0.CO;2-#","article-title":"Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q","volume":"46","author":"A Melberg","year":"1999","journal-title":"Ann Neurol"},{"issue":"5","key":"ref69","doi-asserted-by":"crossref","first-page":"1454","DOI":"10.1212\/WNL.51.5.1454","article-title":"Cardiac involvement in genetically confirmed facioscapulohumeral muscular dystrophy","volume":"51","author":"P Laforet","year":"1998","journal-title":"Neurology"},{"issue":"8","key":"ref70","doi-asserted-by":"crossref","first-page":"1317","DOI":"10.1111\/j.1540-8159.1989.tb05045.x","article-title":"Focal right atrial dysplasia and atrial flutter in a patient with myotonic dystrophy","volume":"12","author":"JG Pickering","year":"1989","journal-title":"Pacing Clin Electrophysiol"},{"issue":"8","key":"ref71","doi-asserted-by":"crossref","first-page":"1058","DOI":"10.1016\/j.hrthm.2010.04.023","article-title":"Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks","volume":"7","author":"E Otten","year":"2010","journal-title":"Heart Rhythm"},{"issue":"4","key":"ref72","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1161\/CIRCEP.108.785865","article-title":"Cardiac myotonic dystrophy mimicking arrhythmogenic right ventricular cardiomyopathy in a young sudden cardiac death victim","volume":"1","author":"AH Christensen","year":"2008","journal-title":"Circ Arrhythm Electrophysiol"},{"issue":"23","key":"ref73","doi-asserted-by":"crossref","first-page":"4595","DOI":"10.1093\/hmg\/ddq387","article-title":"De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy","volume":"19","author":"B Klauke","year":"2010","journal-title":"Hum Mol Genet"},{"issue":"2","key":"ref74","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1111\/cge.12458","article-title":"A mutation in the Z-line Cypher\/ZASP protein is associated with arrhythmogenic right ventricular cardiomyopathy","volume":"88","author":"JM Lopez-Ayala","year":"2015","journal-title":"Clin Genet"},{"issue":"8","key":"ref75","doi-asserted-by":"crossref","first-page":"876","DOI":"10.1161\/CIRCULATIONAHA.110.005405","article-title":"Genetic variation in titin in arrhythmogenic right ventricular cardiomyopathy-overlap syndromes","volume":"124","author":"M Taylor","year":"2011","journal-title":"Circulation"},{"issue":"4","key":"ref76","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1161\/CIRCGENETICS.110.937805","article-title":"Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy","volume":"3","author":"P Elliott","year":"2010","journal-title":"Circ Cardiovasc Genet"},{"issue":"9","key":"ref77","doi-asserted-by":"crossref","first-page":"1128","DOI":"10.1093\/eurheartj\/ehr451","article-title":"Mutations in the Lamin A\/C gene mimic arrhythmogenic right ventricular cardiomyopathy","volume":"33","author":"G Quarta","year":"2012","journal-title":"Eur Heart J"},{"issue":"12","key":"ref78","doi-asserted-by":"crossref","first-page":"1770","DOI":"10.1093\/europace\/euv042","article-title":"Traditional vs. genetic pathogenesis of arrhythmogenic right ventricular cardiomyopathy","volume":"17","author":"D Que","year":"2015","journal-title":"Europace"},{"issue":"2","key":"ref79","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1038\/nrcardio.2013.186","article-title":"Genetics of sudden cardiac death caused by ventricular arrhythmias","volume":"11","author":"RF Marsman","year":"2014","journal-title":"Nat Rev Cardiol"},{"issue":"5","key":"ref80","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1161\/CIRCGENETICS.113.000580","article-title":"AKAP9 is a genetic modifier of congenital long-QT syndrome type 1","volume":"7","author":"CP de Villiers","year":"2014","journal-title":"Circ Cardiovasc Genet"},{"issue":"6","key":"ref81","doi-asserted-by":"crossref","first-page":"630","DOI":"10.1016\/S0025-6196(11)60890-2","article-title":"Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy","volume":"83","author":"I Olivotto","year":"2008","journal-title":"Mayo Clin Proc"},{"issue":"6","key":"ref82","doi-asserted-by":"crossref","first-page":"758","DOI":"10.1161\/CIRCRESAHA.108.191007","article-title":"Kv4 potassium channels form a tripartite complex with the anchoring protein SAP97 and CaMKII in cardiac myocytes","volume":"104","author":"S El-Haou","year":"2009","journal-title":"Circ Res"},{"issue":"12","key":"ref83","doi-asserted-by":"crossref","first-page":"H1463","DOI":"10.1152\/ajpheart.00176.2015","article-title":"Protein assemblies of sodium and inward rectifier potassium channels control cardiac excitability and arrhythmogenesis","volume":"308","author":"BC Willis","year":"2015","journal-title":"Am J Physiol Heart Circ Physiol"},{"key":"ref84","first-page":"A16896","article-title":"A Gain-of-Function Mutation in the Membrane-Associated Guanylate Kinase Protein SAP97 is Associated with Brugada Syndrome","volume":"126","author":"CA YD Marcou","year":"2012","journal-title":"Circulation"},{"issue":"22","key":"ref85","doi-asserted-by":"crossref","first-page":"1367","DOI":"10.1093\/eurheartj\/ehv122","article-title":"The current role of next-generation DNA sequencing in routine care of patients with hereditary cardiovascular conditions: a viewpoint paper of the European Society of Cardiology working group on myocardial and pericardial diseases and members of the European Society of Human Genetics","volume":"36","author":"J Mogensen","year":"2015","journal-title":"Eur Heart J"}],"container-title":["PLOS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0181842","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,5,18]],"date-time":"2020-05-18T03:29:22Z","timestamp":1589772562000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0181842"}},"subtitle":[],"editor":[{"given":"Tomohiko","family":"Ai","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2017,7,27]]},"references-count":85,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2017,7,27]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0181842","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,7,27]]}}}