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Maron BJ, Gardin JM, Flack JM, Gidding SS, Kurosaki TT, Bild DE. Prevalence of hypertrophic cardiomyopathy in a general population of young adults: Echocardiographic analysis of 4111 subjects in the CARDIA study. Circulation. 1995; 92(4): 785-789.MaronBJGardinJMFlackJMGiddingSSKurosakiTTBildDEPrevalence of hypertrophic cardiomyopathy in a general population of young adults: Echocardiographic analysis of 4111 subjects in the CARDIA study199592478578910.1161/01.CIR.92.4.785Search in Google Scholar
Zou Y, Song L, Wang Z, Ma A, Liu T, Gu H, et al. Prevalence of idiopathic hypertrophic cardiomyopathy in China: A population-based echocardiographic analysis of 8080 adults. Am J Med. 2004; 116(1): 14-18.ZouYSongLWangZMaALiuTGuHet alPrevalence of idiopathic hypertrophic cardiomyopathy in China: A population-based echocardiographic analysis of 8080 adults20041161141810.1016/j.amjmed.2003.05.009Search in Google Scholar
Maron BJ, Bonow RO, Cannon RO 3rd, Leon MB, Epstein SE. Hypertrophic cardiomyopathy. Interrelations of clinical manifestations, pathophysiology, and therapy (2). N Engl J Med. 1987; 316(14): 844-852.MaronBJBonowROCannonRO3rdLeonMBEpsteinSEHypertrophic cardiomyopathy. Interrelations of clinical manifestations, pathophysiology, and therapy (2)19873161484485210.1056/NEJM198704023161405Search in Google Scholar
Wigle ED, Rakowski H, Kimball BP, Williams WG. Hypertrophic cardiomyopathy. Clinical spectrum and treatment. Circulation. 1995; 92(7): 1680-1692.WigleEDRakowskiHKimballBPWilliamsWGHypertrophic cardiomyopathy. Clinical spectrum and treatment19959271680169210.1161/01.CIR.92.7.1680Search in Google Scholar
Spirito P, Seidman CE, McKenna WJ, Maron BJ. The management of hypertrophic cardiomyopathy. N Engl J Med. 1997; 336(11): 775-785.SpiritoPSeidmanCEMcKennaWJMaronBJThe management of hypertrophic cardiomyopathy19973361177578510.1056/NEJM199703133361107Search in Google Scholar
Richard P, Charron P, Carrier L, Ledeuil C, Cheav T, Pichereau C, et al. Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation. 2003; 107(17): 2227-2232.RichardPCharronPCarrierLLedeuilCCheavTPichereauCet alHypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy2003107172227223210.1161/01.CIR.0000066323.15244.54Search in Google Scholar
Merante F, Myint T, Tein I, Benson L, Robinson BH. An additional mitochondrial tRNA (Ile) point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy. Hum Mutat. 1996; 8(3): 216-222.MeranteFMyintTTeinIBensonLRobinsonBHAn additional mitochondrial tRNA (Ile) point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy19968321622210.1002/(SICI)1098-1004(1996)8:3<216::AID-HUMU4>3.0.CO;2-7Search in Google Scholar
Arad M, Benson DW, Perez-Atayde AR, McKenna WJ, Sparks EA, Kanter RJ, et al. Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy. J Clin Invest 2002; 109(3): 357-362.AradMBensonDWPerez-AtaydeARMcKennaWJSparksEAKanterRJet alConstitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy2002109335736210.1172/JCI0214571Search in Google Scholar
Seidman JG, Seidman C. Transcription factor haploinsufficiency: when half a loaf is not enough. J Clin Invest 2002; 109(4): 451-455.SeidmanJGSeidmanCTranscription factor haploinsufficiency: when half a loaf is not enough2002109445145510.1172/JCI0215043Search in Google Scholar
Charron P, Dubourg O, Desnos M, Bennaceur M, Carrier L, Camproux AC, et al. Clinical features and prognostic implications of familial hypertrophic cardiomyopathy related to the cardiac myosin-binding protein C gene. Circulation 1998; 97(22): 2230-2236.CharronPDubourgODesnosMBennaceurMCarrierLCamprouxACet alClinical features and prognostic implications of familial hypertrophic cardiomyopathy related to the cardiac myosin-binding protein C gene199897222230223610.1161/01.CIR.97.22.2230Search in Google Scholar
Charron P, Dubourg O, Desnos M, Isnard R, Hagege A, Bonne G, et al. Genotype-phenotype correlations in familial hypertrophic cardiomyopathy. A comparison between mutations in the cardiac protein-C and the beta-myosin heavy chain genes. Eur Heart J. 1998; 19(1): 139-145.CharronPDubourgODesnosMIsnardRHagegeABonneGet alGenotype-phenotype correlations in familial hypertrophic cardiomyopathy. A comparison between mutations in the cardiac protein-C and the beta-myosin heavy chain genes199819113914510.1053/euhj.1997.05759503187Search in Google Scholar
Niimura H, Bachinski LL, Sangwatanaroj S, Watkins H, Chudley AE, McKenna W, et al. Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. N Engl J Med 1998; 338(18): 1248-1257.NiimuraHBachinskiLLSangwatanarojSWatkinsHChudleyAEMcKennaWet alMutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy1998338181248125710.1056/NEJM1998043033818029562578Search in Google Scholar
Biagini E, Olivotto I, Iascone M, Parodi MI, Girolami F, Frisso G, et al. Significance of sarcomere gene mutations analysis in the end-stage phase of hypertrophic cardiomyopathy. Am J Cardiol. 2014; 114(5): 769-776.BiaginiEOlivottoIIasconeMParodiMIGirolamiFFrissoGet alSignificance of sarcomere gene mutations analysis in the end-stage phase of hypertrophic cardiomyopathy2014114576977610.1016/j.amjcard.2014.05.06525037680Search in Google Scholar
Rodríguez-García MI, Monserrat L, Ortiz M, Fernández X, Cazón L, Núñez L, et al. Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy. BMC Med Genet. 2010; 11: 67.Rodríguez-GarcíaMIMonserratLOrtizMFernándezXCazónLNúñezLet alScreening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy2010116710.1186/1471-2350-11-67288097420433692Search in Google Scholar
Marsiglia JD, Credidio FL, de Oliveira TG, Reis RF, Antunes Mde O, de Araujo AQ, et al. Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy. Am Heart J. 2013; 166(4): 775-782.MarsigliaJDCredidioFLde OliveiraTGReisRFAntunesMde Ode AraujoAQet alScreening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy2013166477578210.1016/j.ahj.2013.07.02924093860Search in Google Scholar
Liu X, Jiang T, Piao C, Li X, Guo J, Zheng S, et al. Screening Mutations of MYBPC3 in 114 Unrelated Patients with Hypertrophic Cardiomyopathy by Targeted Capture and Next-generation Sequencing. Sci Rep. 2015; 5: 11411.LiuXJiangTPiaoCLiXGuoJZhengSet alScreening Mutations of MYBPC3 in 114 Unrelated Patients with Hypertrophic Cardiomyopathy by Targeted Capture and Next-generation Sequencing201551141110.1038/srep11411447369026090888Search in Google Scholar
Emrahi L, Tabrizi MT, Gharehsouran J, et al. Spectrum of MYBPC3 Gene Mutations in Patients with Hypertrophic Cardiomyopathy, Reporting Two Novel Mutations from North-West of Iran. Clin Lab. 2016; 62(5): 757-764.EmrahiLTabriziMTGharehsouranJet alSpectrum of MYBPC3 Gene Mutations in Patients with Hypertrophic Cardiomyopathy, Reporting Two Novel Mutations from North-West of Iran201662575776410.7754/Clin.Lab.2014.14113427348999Search in Google Scholar
Maron BJ, Maron MS, Semsarian C. Double or compound sarcomere mutations in hypertrophic cardiomyopathy: a potential link to sudden death in the absence of conventional risk factors. Heart Rhythm. 2012; 9(1): 57-63.MaronBJMaronMSSemsarianCDouble or compound sarcomere mutations in hypertrophic cardiomyopathy: a potential link to sudden death in the absence of conventional risk factors201291576310.1016/j.hrthm.2011.08.00921839045Search in Google Scholar
Marziliano N, Merlini PA, Vignati G, Orsini F, Motta V, Bandiera L, et al. A case of compound mutations in the MYBPC3 gene associated with biventricular hypertrophy and neonatal death. Neonatology. 2012; 102(4): 254-258.MarzilianoNMerliniPAVignatiGOrsiniFMottaVBandieraLet alA case of compound mutations in the MYBPC3 gene associated with biventricular hypertrophy and neonatal death2012102425425810.1159/00033984722907696Search in Google Scholar
Schaefer E, Helms P, Marcellin L, Desprez P, Billaud P, Chanavat V, et al. Next-generation sequencing (NGS) as a fast molecular diagnosis tool for left ventricular noncompaction in an infant with compound mutations in the MYBPC3 gene. Eur J Med Genet. 2014; 57(4): 129-132.SchaeferEHelmsPMarcellinLDesprezPBillaudPChanavatVet alNext-generation sequencing (NGS) as a fast molecular diagnosis tool for left ventricular noncompaction in an infant with compound mutations in the MYBPC3 gene201457412913210.1016/j.ejmg.2014.02.01524602869Search in Google Scholar
Wessels MW, Herkert JC, Frohn-Mulder IM, Dalinghaus M, van den Wijngaard A, de Krijger RR, et al. Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects. Eur J Hum Genet. 2015; 23(7): 922-928.WesselsMWHerkertJCFrohn-MulderIMDalinghausMvan denWijngaard Ade KrijgerRRet alCompound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects201523792292810.1038/ejhg.2014.211446349925335496Search in Google Scholar
Driest SLV, Vasile VC, Ommen SR, Will ML, Tajik AJ, Gersh BJ, et al. Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. J Am Coll Cardiol. 2004; 44(9): 1903-1310.DriestSLVVasileVCOmmenSRWillMLTajikAJGershBJet alMyosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy20044491903131010.1016/j.jacc.2004.07.04515519027Search in Google Scholar
Erdmann J, Daehmlow S, Wischke S, Senyuva M, Werner U, Raible J, et al. Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. Clin Genet. 2003; 64(4): 339-349.ErdmannJDaehmlowSWischkeSSenyuvaMWernerURaibleJet alMutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy200364433934910.1034/j.1399-0004.2003.00151.x12974739Search in Google Scholar
Zhang R, Chen S, Han P, Chen F, Kuang S, Meng Z, et al. Whole exome sequencing identified a homozygous novel variant in CEP290 gene causes Meckel syndrome. J Cell Mol Med. 2020; 24(2): 1906-1916.ZhangRChenSHanPChenFKuangSMengZet alWhole exome sequencing identified a homozygous novel variant in CEP290 gene causes Meckel syndrome20202421906191610.1111/jcmm.14887699168231840411Search in Google Scholar
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. 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. Genet Med. 2015; 17(5): 405-424.RichardsSAzizNBaleSBickDDasSGastier-FosterJet alStandards 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 Pathology201517540542410.1038/gim.2015.30454475325741868Search in Google Scholar
Schwarz JM, Cooper DN, Schuelke M, Seelow D. MutationTaster2: mutation prediction for the deep-sequencing age. Nat Methods. 2014; 11(4): 361-362.SchwarzJMCooperDNSchuelkeMSeelowDMutationTaster2: mutation prediction for the deep-sequencing age201411436136210.1038/nmeth.289024681721Search in Google Scholar
Marian AJ. On genetic and phenotypic variability of hypertrophic cardiomyopathy: nature versus nurture. J Am Coll Cardiol. 2001; 38(2): 331-334.MarianAJOn genetic and phenotypic variability of hypertrophic cardiomyopathy: nature versus nurture200138233133410.1016/S0735-1097(01)01389-4Search in Google Scholar
Watkins H, Conner D, Thierfelder L, Jarcho JA, Mac-Rae C, McKenna WJ, et al. Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy. Nat Genet. 1995; 11(4): 434-437.WatkinsHConnerDThierfelderLJarchoJAMac-RaeCMcKennaWJet alMutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy199511443443710.1038/ng1295-4347493025Search in Google Scholar
Gómez J, Reguero JR, Morís C, Martín M, Alvarez V, Alonso B, et al. Mutation analysis of the main hypertrophic cardiomyopathy genes using multiplex amplification and semiconductor next-generation sequencing. Circ J. 2014; 78(12): 2963-2971.GómezJRegueroJRMorísCMartínMAlvarezVAlonsoBet alMutation analysis of the main hypertrophic cardiomyopathy genes using multiplex amplification and semiconductor next-generation sequencing201478122963297110.1253/circj.CJ-14-062825342278Search in Google Scholar
Loar RW, Bos JM, Will ML, Ommen SR, Ackerman MJ. Genotype-phenotype Correlations of Hypertrophic Cardiomyopathy When Diagnosed in Children, Adolescents, and Young Adults. Congenital Heart Disease. 2015; 10(6): 529-536.LoarRWBosJMWillMLOmmenSRAckermanMJGenotype-phenotype Correlations of Hypertrophic Cardiomyopathy When Diagnosed in Children, Adolescents, and Young Adults201510652953610.1111/chd.1228026061417Search in Google Scholar
Maron BJ. Hypertrophic cardiomyopathy: an important global disease. Am J Med. 2004; 116(1): 63-65.MaronBJHypertrophic cardiomyopathy: an important global disease20041161636510.1016/j.amjmed.2003.10.01214706671Search in Google Scholar
Maron BJ. Hypertrophic cardiomyopathy: a systematic review. JAMA 2002; 287(10): 1308-1320.MaronBJHypertrophic cardiomyopathy: a systematic review2002287101308132010.1001/jama.287.10.130811886323Search in Google Scholar
Gersh BJ, Maron BJ, Bonow RO, Dearani JA, Fifer MA, Link MS, et al. 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. J Am Coll Cardiol 2011; 58(25): 2703-2738.GershBJMaronBJBonowRODearaniJAFiferMALinkMSet al2011ACCF/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 Guidelines58252703273810.1016/j.jacc.2011.10.82522075468Search in Google Scholar
Marian AJ, Braunwald E. Hypertrophic cardiomyopathy: genetics, pathogenesis, clinical manifestations, diagnosis, and therapy. Circ Res. 2017; 121(7): 749-770.MarianAJBraunwaldEHypertrophic cardiomyopathy: genetics, pathogenesis, clinical manifestations, diagnosis, and therapy2017121774977010.1161/CIRCRESAHA.117.311059565455728912181Search in Google Scholar
Wijnker PJM, Friedrich FW, Dutsch A, Reischmann S, Eder A, Mannhardt I, et al. Comparison of the effects of a truncating and a missense MYBPC3 mutation on contractile parameters of engineered heart tissue. J Mol Cell Cardiol. 2016; 97: 82-92.WijnkerPJMFriedrichFWDutschAReischmannSEderAMannhardtIet alComparison of the effects of a truncating and a missense MYBPC3 mutation on contractile parameters of engineered heart tissue201697829210.1016/j.yjmcc.2016.03.00327108529Search in Google Scholar
Helms AS, Davis FM, Coleman D, Bartolone SN, Glazier AA, Pagani F, et al. Sarcomere mutation specific expression patterns in human hypertrophic cardiomyopathy. Circ Cardiovasc Genet. 2014; 7(4): 434-443.HelmsASDavisFMColemanDBartoloneSNGlazierAAPaganiFet alSarcomere mutation specific expression patterns in human hypertrophic cardiomyopathy20147443444310.1161/CIRCGENETICS.113.000448425465625031304Search in Google Scholar
Mohamed IA, Krishnamoorthy NT, Nasrallah GK, Da’as SI. The role of cardiac myosin binding protein C3 in hypertrophic cardiomyopathy progress and novel therapeutic opportunities. J Cell Physiol 2017; 232(7): 1650-1659.MohamedIAKrishnamoorthyNTNasrallahGKDa’asSIThe role of cardiac myosin binding protein C3 in hypertrophic cardiomyopathy progress and novel therapeutic opportunities201723271650165910.1002/jcp.2563927731493Search in Google Scholar
Dai Y, Liang S, Dong X, Zhao Y, Ren H, Guan Y, et al. Whole exome sequencing identified a novel DAG1 mutation in a patient with rare, mild and late age of onset muscular dystrophy-dystroglycanopathy. J Cell Mol Med. 2019; 23(2): 811-818.DaiYLiangSDongXZhaoYRenHGuanYet alWhole exome sequencing identified a novel DAG1 mutation in a patient with rare, mild and late age of onset muscular dystrophy-dystroglycanopathy201923281181810.1111/jcmm.13979634915130450679Search in Google Scholar
Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, et al. Exome sequencing identifies the cause of a mendelian disorder. Nat Genet. 2010; 42(1): 30-35.NgSBBuckinghamKJLeeCBighamAWTaborHKDentKMet alExome sequencing identifies the cause of a mendelian disorder2010421303510.1038/ng.499284788919915526Search in Google Scholar