Novel phenotype-genotype correlations of restrictive cardiomyopathy with myosin-binding protein c (mybpc3) gene mutations tested by next-generation sequencing

Journal of the American Heart Association

Volumn 4, Issue 7, 2015, Pages

  Wu, Wei ^a   Lu, Chao Xia ^b,c   Wang, Yi Ning ^a   Liu, Fang ^a,b,c   Chen, Wei ^a   Liu, Yong Tai ^a   Han, Ye Chen ^a   Cao, Jian ^a   Zhang, Shu Yang ^a   Zhang, Xue ^b,c  

^a Institute of Basic Medical Sciences   (China)

^b PEKING UNION MEDICAL COLLEGE HOSPITAL   (China)

^c PEKING UNION MEDICAL COLLEGE   (China)

Author keywords

Diastolic dysfunction; Genotype phenotype; Restrictive cardiomyopathy

Indexed keywords

MYOSIN BINDING PROTEIN C; CARRIER PROTEIN; MYOSIN-BINDING PROTEIN C; STOP CODON;

ADULT; ARTICLE; CARDIOVASCULAR MAGNETIC RESONANCE; CASE REPORT; CONTROLLED STUDY; ECHOCARDIOGRAPHY; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MALE; MIDDLE AGED; MISSENSE MUTATION; MYBPC3 GENE; NEXT GENERATION SEQUENCING; NONSENSE MUTATION; RESTRICTIVE CARDIOMYOPATHY; SANGER SEQUENCING; AGED; CARDIOMYOPATHY, RESTRICTIVE; COLOR DOPPLER ECHOCARDIOGRAPHY; DNA MUTATIONAL ANALYSIS; ELECTROCARDIOGRAPHY; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; HEART LEFT VENTRICLE FUNCTION; HIGH THROUGHPUT SEQUENCING; MORTALITY; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOPHYSIOLOGY; PEDIGREE; PHENOTYPE; PREDICTIVE VALUE; PROCEDURES; PROGNOSIS; STOP CODON; TRANSESOPHAGEAL ECHOCARDIOGRAPHY; WORKFLOW;

ADULT; AGED; CARDIOMYOPATHY, RESTRICTIVE; CARRIER PROTEINS; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; ECHOCARDIOGRAPHY, DOPPLER, COLOR; ECHOCARDIOGRAPHY, TRANSESOPHAGEAL; ELECTROCARDIOGRAPHY; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; PREDICTIVE VALUE OF TESTS; PROGNOSIS; VENTRICULAR DYSFUNCTION, LEFT; VENTRICULAR FUNCTION, LEFT; WORKFLOW;

EID: 85018193402     PISSN: None     EISSN: 20479980     Source Type: Journal    
DOI: 10.1161/JAHA.115.001879     Document Type: Article

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