Homozygous/compound heterozygous triadin mutations associated with autosomal-recessive long-QT syndrome and pediatric sudden cardiac arrest: Elucidation of the triadin knockout syndrome

Circulation

Volumn 131, Issue 23, 2015, Pages 2051-2060

  Altmann, Helene M ^a   Tester, David J ^a,b   Will, Melissa L ^a,b   Middha, Sumit ^c   Evans, Jared M ^c   Eckloff, Bruce W ^b   Ackerman, Michael J ^a,b  

^a MAYO GRADUATE SCHOOL   (United States)

^b MAYO CLINIC   (United States)

^c Mayo Clinic College of Medicine   (United States)

Author keywords

Arrhythmias; Cardiac; Genetics; Heart arrest; Humans; Long QT syndrome; Pediatrics

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DNA SEQUENCE; EXERCISE; EXOME; FAINTNESS; FEMALE; FRAMESHIFT MUTATION; GENE; GENE MUTATION; GENETIC VARIABILITY; HEART ARREST; HUMAN; LONG QT SYNDROME; MALE; MUTATIONAL ANALYSIS; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; PREVALENCE; PRIORITY JOURNAL; QT PROLONGATION; SUDDEN CARDIAC DEATH; T WAVE INVERSION; TRIADIN GENE; CASE REPORT; GENETICS; HETEROZYGOTE; HOMOZYGOTE; IMPLANTABLE CARDIOVERTER DEFIBRILLATOR; INFANT; MIDDLE AGED; PRESCHOOL CHILD; RECESSIVE GENE; SYMPATHECTOMY; SYNCOPE; SYNDROME; TREATMENT OUTCOME; YOUNG ADULT;

CARRIER PROTEIN; MUSCLE PROTEIN; TRDN PROTEIN, HUMAN;

ADOLESCENT; ADULT; AGED; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; DEFIBRILLATORS, IMPLANTABLE; EXOME; FEMALE; FRAMESHIFT MUTATION; GENES, RECESSIVE; HEART ARREST; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT; LONG QT SYNDROME; MALE; MIDDLE AGED; MUSCLE PROTEINS; PEDIGREE; PHENOTYPE; SEQUENCE ANALYSIS, DNA; SYMPATHECTOMY; SYNCOPE; SYNDROME; TREATMENT OUTCOME; YOUNG ADULT;

EID: 84935427362     PISSN: 00097322     EISSN: 15244539     Source Type: Journal    
DOI: 10.1161/CIRCULATIONAHA.115.015397     Document Type: Article

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