Exome sequencing identifies pathogenic and modifier mutations in a child with sporadic dilated cardiomyopathy

Journal of the American Heart Association

Volumn 4, Issue 12, 2015, Pages

  Long, Pamela A ^a   Larsen, Brandon T ^b   Evans, Jared M ^a   Olson, Timothy M ^a  

^a MAYO CLINIC   (United States)

^b UNIVERSITY OF ARIZONA COLLEGE OF MEDICINE   (United States)

Author keywords

Dilated cardiomyopathy; Genetics; Heart failure; Pediatrics; Whole exome sequencing

Indexed keywords

MILRINONE; DNA BINDING PROTEIN; LIM PROTEIN; NUCLEAR PROTEIN; TNNT2 PROTEIN, HUMAN; TROPONIN T; XIRP2 PROTEIN, HUMAN;

ARTICLE; CARDIOMEGALY; CASE REPORT; CHILD; COMPUTER ASSISTED TOMOGRAPHY; CONGESTIVE CARDIOMYOPATHY; CONTINUOUS INFUSION; ECHOCARDIOGRAPHY; EXOME; FAMILY; FEMALE; GENE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HEART CATHETERIZATION; HEART FAILURE; HEART TRANSPLANTATION; HEART VENTRICLE TACHYCARDIA; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMPLANTABLE CARDIOVERTER DEFIBRILLATOR; MISSENSE MUTATION; MODIFIER GENE; PATHOGENESIS; PENETRANCE; PRIORITY JOURNAL; SCHOOL CHILD; TNNT2 GENE; XIRP2 GENE; ANIMAL; DNA MICROARRAY; DNA SEQUENCE; GENETICS; HEART VENTRICLE; HETEROZYGOTE; MALE; MOUSE; PATHOLOGY; PEDIGREE; TRANSMISSION ELECTRON MICROSCOPY; ULTRASTRUCTURE;

ANIMALS; CARDIOMYOPATHY, DILATED; CHILD; DNA-BINDING PROTEINS; EXOME; FEMALE; HEART VENTRICLES; HETEROZYGOTE; HUMANS; LIM DOMAIN PROTEINS; MALE; MICE; MICROSCOPY, ELECTRON, TRANSMISSION; MUTATION, MISSENSE; NUCLEAR PROTEINS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PEDIGREE; SEQUENCE ANALYSIS, DNA; TROPONIN T;

EID: 84978912336     PISSN: None     EISSN: 20479980     Source Type: Journal    
DOI: 10.1161/JAHA.115.002443     Document Type: Article

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