Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death

BMC Medical Genetics

Volumn 15, Issue 1, 2014, Pages 1-9

  Bagnall, Richard D ^a,b   Molloy, Laura K ^a,c   Kalman, Jonathan M ^d   Semsarian, Christopher ^a,b,c  

^a CENTENARY INSTITUTE   (Australia)

^b University of Sydney   (Australia)

^c ROYAL PRINCE ALFRED HOSPITAL   (Australia)

^d ROYAL MELBOURNE HOSPITAL   (Australia)

Author keywords

Arrhythmia; Cardiomyopathy; Exome sequencing; Phenotype heterogeneity

Indexed keywords

ALPHA ACTININ 2; ACTININ; ACTN2 PROTEIN, HUMAN;

ADULT; ARTICLE; CARDIOMYOPATHY; CLINICAL ARTICLE; CLINICAL FEATURE; EXOME; EXOME SEQUENCING; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENE SEQUENCE; HAPLOTYPE; HEART VENTRICLE FIBRILLATION; HUMAN; IDIOPATHIC DISEASE; MALE; PHENOTYPE; SEGREGATION ANALYSIS; SEQUENCE ANALYSIS; SUDDEN DEATH; VENTRICULAR NONCOMPACTION; AMINO ACID SUBSTITUTION; AUSTRALIA; CONGENITAL HEART MALFORMATION; DEATH, SUDDEN, CARDIAC; DNA SEQUENCE; GENETIC PREDISPOSITION; GENETICS; PATHOLOGY; PEDIGREE;

ACTININ; ADULT; AMINO ACID SUBSTITUTION; AUSTRALIA; DEATH, SUDDEN, CARDIAC; EXOME; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEART DEFECTS, CONGENITAL; HUMANS; MALE; PEDIGREE; SEQUENCE ANALYSIS, DNA; VENTRICULAR FIBRILLATION;

EID: 84908130119     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/s12881-014-0099-0     Document Type: Article

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