{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T14:00:32Z","timestamp":1780408832082,"version":"3.54.1"},"reference-count":29,"publisher":"International Heart Journal (Japanese Heart Journal)","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Int. Heart J."],"published-print":{"date-parts":[[2019,11,30]]},"DOI":"10.1536\/ihj.19-146","type":"journal-article","created":{"date-parts":[[2019,11,14]],"date-time":"2019-11-14T22:13:05Z","timestamp":1573769585000},"page":"1415-1420","source":"Crossref","is-referenced-by-count":3,"title":["&lt;i&gt;MYH7&lt;\/i&gt; Gene-Related Mutation p.V878L Identified in a Chinese Family with Hypertrophic Cardiomyopathy"],"prefix":"10.1536","volume":"60","author":[{"given":"Yuan","family":"Du","sequence":"first","affiliation":[{"name":"Department of Cardiovascular Medicine, First Affiliated Hospital of Xi'an Jiaotong University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ya","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Medicine, First Affiliated Hospital of Xi'an Jiaotong University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiu","family":"Han","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Medicine, First Affiliated Hospital of Xi'an Jiaotong University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhanbin","family":"Feng","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Medicine, Ninth Hospital of Xi'an"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aiqun","family":"Ma","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Medicine, First Affiliated Hospital of Xi'an Jiaotong University"},{"name":"Shaanxi Key Laboratory of Molecular Cardiology, Xi'an Jiaotong University"},{"name":"Key Laboratory of Environment and Genes Related to Diseases, Xi'an Jiaotong University, Ministry of Education"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"437","reference":[{"key":"1","doi-asserted-by":"crossref","unstructured":"1. Kittleson MD, Meurs KM, Harris SP. The genetic basis of hypertrophic cardiomyopathy in cats and humans. J Vet Cardiol 2015; 17: S53-73.","DOI":"10.1016\/j.jvc.2015.03.001"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Semsarian C, Ingles J, Maron MS, <i>et al<\/i>. New perspectives on the prevalence of hypertrophic cardiomyopathy. J Am Coll Cardiol 2015; 65: 1249-54.","DOI":"10.1016\/j.jacc.2015.01.019"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Zou Y, Song L, Wang Z, <i>et al<\/i>. Prevalence of idiopathic hypertrophic cardiomyopathy in China: a population-based echocardiographic analysis of 8080 adults. Am J Med 2004; 116: 14-8.","DOI":"10.1016\/j.amjmed.2003.05.009"},{"key":"4","doi-asserted-by":"publisher","unstructured":"4. Maron BJ, Maron MS. Hypertrophic cardiomyopathy. Lancet 2013; 381: 242-55.","DOI":"10.1016\/S0140-6736(12)60397-3"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Pasipoularides A. Challenges and controversies in hypertrophic cardiomyopathy: clinical, genomic and basic science perspectives. Rev Esp Cardiol 2018; 71: 132-8.","DOI":"10.1016\/j.recesp.2017.06.034"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Maron BJ, Maron MS, Semsarian C. Genetics of hypertrophic cardiomyopathy after 20 years: clinical perspectives. J Am Coll Cardiol 2012; 60: 705-15.","DOI":"10.1016\/j.jacc.2012.02.068"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Ho CY. Genetic considerations in hypertrophic cardiomyopathy. Prog Cardiovasc Dis 2012; 54: 456-60.","DOI":"10.1016\/j.pcad.2012.03.004"},{"key":"8","doi-asserted-by":"publisher","unstructured":"8. Meyer T, Pankuweit S, Richter A, <i>et al<\/i>. Detection of a large duplication mutation in the myosin-binding protein C3 gene in a case of hypertrophic cardiomyopathy. Gene 2013; 527: 416-20.","DOI":"10.1016\/j.gene.2013.06.025"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. Marian AJ, Braunwald E. Hypertrophic cardiomyopathy: genetics, pathogenesis, clinical manifestations, diagnosis, and therapy. Circ Res 2017; 121: 749-70.","DOI":"10.1161\/CIRCRESAHA.117.311059"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Weissler-Snir A, Crean A, Rakowski H. The role of imaging in the diagnosis and management of hypertrophic cardiomyopathy. Expert Rev Cardiovasc Ther 2016; 14: 51-74.","DOI":"10.1586\/14779072.2016.1113130"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Greber-Platzer S, Marx M, Fleischmann C, <i>et al<\/i>. Beta-myosin heavy chain gene mutations and hypertrophic cardiomyopathy in Austrian children. J Mol Cell Cardiol 2001; 33: 141-8.","DOI":"10.1006\/jmcc.2000.1287"},{"key":"12","doi-asserted-by":"publisher","unstructured":"12. Arad M, Penas-Lado M, Monserrat L, <i>et al<\/i>. Gene mutations in apical hypertrophic cardiomyopathy. Circulation 2005; 112: 2805-11.","DOI":"10.1161\/CIRCULATIONAHA.105.547448"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Tanjore RR, Sikindlapuram AD, Calambur N, <i>et al<\/i>. Genotype-phenotype correlation of R870H mutation in hypertrophic cardiomyopathy. Clin Genet 2006; 69: 434-6.","DOI":"10.1111\/j.1399-0004.2006.00599.x"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Hougs L, Havndrup O, Bundgaard H, <i>et al<\/i>. One third of Danish hypertrophic cardiomyopathy patients with MYH7 mutations have mutations [corrected] in MYH7 rod region. Eur J Hum Genet 2005; 13: 161-5.","DOI":"10.1038\/sj.ejhg.5201310"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. Frazier A, Judge DP, Schulman SP, <i>et al<\/i>. Familial hypertrophic cardiomyopathy associated with cardiac beta-myosin heavy chain and troponin I mutations. Pediatr Cardiol 2008; 29: 846-50.","DOI":"10.1007\/s00246-007-9177-9"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. Lee DD, Veith RL, Dimmock DP, <i>et al<\/i>. Hypertrophic cardiomyopathy: a new mutation illustrates the need for family-centered care. Pediatr Cardiol 2014; 35: 1474-7.","DOI":"10.1007\/s00246-014-1002-7"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17. Daehmlow S, Erdmann J, Knueppel T, <i>et al<\/i>. Novel mutations in sarcomeric protein genes in dilated cardiomyopathy. Biochem Biophys Res Commun 2002; 298: 116-20.","DOI":"10.1016\/S0006-291X(02)02374-4"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18. Villard E, Duboscq-Bidot L, Charron P, <i>et al<\/i>. Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene. Eur Heart J 2005; 26: 794-803.","DOI":"10.1093\/eurheartj\/ehi193"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19. Watkins H, Rosenzweig A, Hwang DS, <i>et al<\/i>. Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. N Engl J Med 1992; 326: 1108-14.","DOI":"10.1056\/NEJM199204233261703"},{"key":"20","doi-asserted-by":"crossref","unstructured":"20. Pegoraro E, Gavassini BF, Borsato C, <i>et al<\/i>. MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy. Neuromuscul Disord 2007; 17: 321-9.","DOI":"10.1016\/j.nmd.2007.01.010"},{"key":"21","doi-asserted-by":"crossref","unstructured":"21. Meredith C, Herrmann R, Parry C, <i>et al<\/i>. Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause Laing early-onset distal myopathy (MPD1). Am J Hum Genet 2004; 75: 703-8.","DOI":"10.1086\/424760"},{"key":"22","doi-asserted-by":"crossref","unstructured":"22. Brand P, Dyck PJ, Liu J, <i>et al<\/i>. Distal myopathy with coexisting heterozygous TIA1 and MYH7 Variants. Neuromuscul Disord 2016; 26: 511-5.","DOI":"10.1016\/j.nmd.2016.05.012"},{"key":"23","doi-asserted-by":"crossref","unstructured":"23. Sabater-Molina M, P\u00e9rez-S\u00e1nchez I, Hern\u00e1ndez Del, Rinc\u00f3n JP, <i>et al<\/i>. Genetics of hypertrophic cardiomyopathy: a review of current state. Clin Genet 2018; 93: 3-14.","DOI":"10.1111\/cge.13027"},{"key":"24","doi-asserted-by":"crossref","unstructured":"24. Blair E, Redwood C, de Jesus, Oliveira M, <i>et al<\/i>. Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy. Circ Res 2002; 90: 263-9.","DOI":"10.1161\/hh0302.104532"},{"key":"25","doi-asserted-by":"crossref","unstructured":"25. Woo A, Rakowski H, Liew JC, <i>et al<\/i>. Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis. Heart 2003; 89: 1179-85.","DOI":"10.1136\/heart.89.10.1179"},{"key":"26","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1161\/01.CIR.86.2.345","volume":"86","year":"1992","unstructured":"26. Epstein ND, Cohn GM, Cyran F, <i>et al<\/i>. Differences in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the beta-myosin heavy chain gene. A 908Leu----Val mutation and a 403Arg----Gln mutation. Circulation 1992; 86: 345-52.","journal-title":"Circulation","ISSN":"https:\/\/id.crossref.org\/issn\/0009-7322","issn-type":"print"},{"key":"27","doi-asserted-by":"crossref","unstructured":"27. Wang B, Guo RQ, Wang J, <i>et al<\/i>. The Cumulative Effects of the MYH7-V878A and CACNA1C-A1594V Mutations in a Chinese Family with Hypertrophic Cardiomyopathy. Cardiology 2017; 138: 228-37.","DOI":"10.1159\/000478900"},{"key":"28","first-page":"1308","volume":"287","year":"2002","unstructured":"28. Maron BJ. Hypertrophic cardiomyopathy: a systematic review. JAMA 2002; 287: 1308-20.","journal-title":"JAMA The Journal of the American Medical Association","ISSN":"https:\/\/id.crossref.org\/issn\/0098-7484","issn-type":"print"},{"key":"29","doi-asserted-by":"crossref","unstructured":"29. Wang S, Zou Y, Fu C, <i>et al<\/i>. Worse prognosis with gene mutations of beta-myosin heavy chain than myosin-binding protein C in Chinese patients with hypertrophic cardiomyopathy. Clin Cardiol 2008; 31: 114-8.","DOI":"10.1002\/clc.20151"}],"container-title":["International Heart Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/ihj\/60\/6\/60_19-146\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,12,2]],"date-time":"2019-12-02T12:05:23Z","timestamp":1575288323000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/ihj\/60\/6\/60_19-146\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,11,30]]},"references-count":29,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2019]]}},"URL":"https:\/\/doi.org\/10.1536\/ihj.19-146","relation":{},"ISSN":["1349-2365","1349-3299"],"issn-type":[{"value":"1349-2365","type":"print"},{"value":"1349-3299","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,11,30]]}}}