{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,11]],"date-time":"2026-05-11T20:46:25Z","timestamp":1778532385264,"version":"3.51.4"},"reference-count":28,"publisher":"Public Library of Science (PLoS)","issue":"6","license":[{"start":{"date-parts":[[2013,6,28]],"date-time":"2013-06-28T00:00:00Z","timestamp":1372377600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0067087","type":"journal-article","created":{"date-parts":[[2013,6,28]],"date-time":"2013-06-28T21:17:37Z","timestamp":1372454257000},"page":"e67087","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":12,"title":["Autosomal Recessive Transmission of MYBPC3 Mutation Results in Malignant Phenotype of Hypertrophic Cardiomyopathy"],"prefix":"10.1371","volume":"8","author":[{"given":"Yilu","family":"Wang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhimin","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qi","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yubao","family":"Zou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hongju","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chaowu","family":"Yan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xinxing","family":"Feng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yin","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jizheng","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xianliang","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ferhaan","family":"Ahmad","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rutai","family":"Hui","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lei","family":"Song","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"340","published-online":{"date-parts":[[2013,6,28]]},"reference":[{"key":"ref1","first-page":"1308","article-title":"Hypertrophic cardiomyopathy: a systematic review","volume":"287(10)","author":"BJ Maron","year":"2002","journal-title":"JAMA"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"580","DOI":"10.1161\/01.RES.83.6.580","article-title":"Familial hypertrophic cardiomyopathy: from mutations to functional defects","volume":"83(6)","author":"G Bonne","year":"1998","journal-title":"Circ Res"},{"key":"ref3","doi-asserted-by":"crossref","unstructured":"Kimura A (2008) Molecular etiology and pathogenesis of hereditary cardiomyopathy. Circ J 72 Suppl A(A38\u201348.","DOI":"10.1253\/circj.CJ-08-0050"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1136\/heartjnl-2011-300368","article-title":"A cost-effectiveness model of genetic testing for the evaluation of families with hypertrophic cardiomyopathy","volume":"98(8)","author":"J Ingles","year":"2012","journal-title":"Heart"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"2761","DOI":"10.1161\/CIR.0b013e318223e230","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":"124(24)","author":"BJ Gersh","year":"2011","journal-title":"Circulation"},{"key":"ref6","first-page":"147","article-title":"Familial and sporadic hypertrophic myopathy: differences and similarities in a genotyped population. A long follow-up study","volume":"27(2)","author":"D Brito","year":"2008","journal-title":"Rev Port Cardiol"},{"key":"ref7","first-page":"1137","article-title":"Malignant mutations in hypertrophic cardiomyopathy: fact or fancy?","volume":"24(9)","author":"D Brito","year":"2005","journal-title":"Rev Port Cardiol"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"1903","DOI":"10.1016\/j.jacc.2004.07.045","article-title":"Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy","volume":"44(9)","author":"SL Van Driest","year":"2004","journal-title":"J Am Coll Cardiol"},{"key":"ref9","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(6)","author":"I Olivotto","year":"2008","journal-title":"Mayo Clin Proc"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"e59","DOI":"10.1136\/jmg.2005.033886","article-title":"Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling","volume":"42(10)","author":"J Ingles","year":"2005","journal-title":"J Med Genet"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1016\/j.hrthm.2011.08.009","article-title":"Double or compound sarcomere mutations in hypertrophic cardiomyopathy: A potential link to sudden death in the absence of conventional risk factors","volume":"9(1)","author":"BJ Maron","year":"2012","journal-title":"Heart Rhythm"},{"key":"ref12","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(14)","author":"F Girolami","year":"2010","journal-title":"J Am Coll Cardiol"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"2654","DOI":"10.1253\/circj.CJ-10-1314","article-title":"Genetic screening and double mutation in Japanese patients with hypertrophic cardiomyopathy","volume":"75(11)","author":"T Kubo","year":"2011","journal-title":"Circ J"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1016\/j.amjmed.2003.05.009","article-title":"Prevalence of idiopathic hypertrophic cardiomyopathy in China: a population-based echocardiographic analysis of 8080 adults","volume":"116(1)","author":"Y Zou","year":"2004","journal-title":"Am J Med"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7(4)","author":"IA Adzhubei","year":"2010","journal-title":"Nat Methods"},{"key":"ref16","first-page":"863","article-title":"Predicting deleterious amino acid substitutions","volume":"11(5)","author":"PC Ng","year":"2001","journal-title":"Genome Res"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"2947","DOI":"10.1093\/bioinformatics\/btm404","article-title":"Clustal W and Clustal X version 2.0","volume":"23(21)","author":"MA Larkin","year":"2007","journal-title":"Bioinformatics"},{"key":"ref18","doi-asserted-by":"crossref","unstructured":"Furst DO, Vinkemeier U, Weber K (1992) Mammalian skeletal muscle C-protein: purification from bovine muscle, binding to titin and the characterization of a full-length human cDNA. J Cell Sci 102 (Pt 4)(769\u2013778.","DOI":"10.1242\/jcs.102.4.769"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"1952","DOI":"10.1002\/j.1460-2075.1995.tb07187.x","article-title":"Phosphorylation switches specific for the cardiac isoform of myosin binding protein-C: a modulator of cardiac contraction?","volume":"14(9)","author":"M Gautel","year":"1995","journal-title":"EMBO J"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1038\/ng1295-438","article-title":"Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy","volume":"11(4)","author":"G Bonne","year":"1995","journal-title":"Nat Genet"},{"key":"ref21","first-page":"1950","article-title":"Homozygous mutation in cardiac troponin T: implications for hypertrophic cardiomyopathy","volume":"102(16)","author":"CY Ho","year":"2000","journal-title":"Circulation"},{"key":"ref22","first-page":"572","article-title":"A homozygous MYBPC3 gene mutation associated with a severe phenotype and a high risk of sudden death in a family with hypertrophic cardiomyopathy","volume":"62(5)","author":"MF Ortiz","year":"2009","journal-title":"Rev Esp Cardiol"},{"key":"ref23","first-page":"1326","article-title":"Homozygous mutation of MYBPC3 associated with severe infantile hypertrophic cardiomyopathy at high frequency among the Amish","volume":"94(10)","author":"K Zahka","year":"2008","journal-title":"Heart"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"2337","DOI":"10.1161\/01.CIR.0000018444.47798.94","article-title":"Myosin light chain mutation causes autosomal recessive cardiomyopathy with mid-cavitary hypertrophy and restrictive physiology","volume":"105(20)","author":"TM Olson","year":"2002","journal-title":"Circulation"},{"key":"ref25","doi-asserted-by":"crossref","unstructured":"Gray B, Yeates L, Medi C, Ingles J, Semsarian C (2012) Homozygous mutation in the cardiac troponin I gene: Clinical heterogeneity in hypertrophic cardiomyopathy. Int J Cardiol.","DOI":"10.1016\/j.hlc.2012.05.162"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"1248","DOI":"10.1056\/NEJM199804303381802","article-title":"Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy","volume":"338(18)","author":"H Niimura","year":"1998","journal-title":"N Engl J Med"},{"key":"ref27","first-page":"114","article-title":"Worse prognosis with gene mutations of beta-myosin heavy chain than myosin-binding protein C in Chinese patients with hypertrophic cardiomyopathy","volume":"31(3)","author":"S Wang","year":"2008","journal-title":"Clin Cardiol"},{"key":"ref28","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1161\/01.RES.0000036750.81083.83","article-title":"Identification of novel interactions between domains of Myosin binding protein-C that are modulated by hypertrophic cardiomyopathy missense mutations","volume":"91(8)","author":"J Moolman-Smook","year":"2002","journal-title":"Circ Res"}],"container-title":["PLoS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0067087","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,2,26]],"date-time":"2022-02-26T19:43:42Z","timestamp":1645904622000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0067087"}},"subtitle":[],"editor":[{"given":"Andreas R.","family":"Janecke","sequence":"first","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2013,6,28]]},"references-count":28,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2013,6,28]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0067087","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,6,28]]}}}