Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy

Journal of the American College of Cardiology

Volumn 67, Issue 5, 2016, Pages 515-525

  Almomani, Rowida ^a   Verhagen, Judith M A ^b   Herkert, Johanna C ^a   Brosens, Erwin ^b   van Spaendonck Zwarts, Karin Y ^a,c   Asimaki, Angeliki ^d   van der Zwaag, Paul A ^a   Frohn Mulder, Ingrid M E ^b   Bertoli Avella, Aida M ^b,e   Boven, Ludolf G ^a   van Slegtenhorst, Marjon A ^b   van der Smagt, Jasper J ^f   van IJcken, Wilfred F J ^b   Timmer, Bert ^a   van Stuijvenberg, Margriet ^g   Verdijk, Rob M ^b   Saffitz, Jeffrey E ^d   du Plessis, Frederik A ^b   Michels, Michelle ^b   Hofstra, Robert M W ^b   Sinke, Richard J ^a   van Tintelen, J Peter ^a,c,h   Wessels, Marja W ^b   Jongbloed, Jan D H ^a   van de Laar, Ingrid M B H ^b   more..

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c UNIVERSITY OF AMSTERDAM   (Netherlands)

^d BETH ISRAEL DEACONESS MEDICAL CENTER   (United States)

^e CENTOGENE AG   (Germany)

^f UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^g UNIVERSITY OF GRONINGEN   (Netherlands)

^h Durrer Center for Cardiogenetic Research   (Netherlands)

Author keywords

exome sequencing; homozygous alpha kinase 3 mutations; hypertrophy; intercalated disc

Indexed keywords

ADULT; ALPK3 GENE; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; AUTOPSY; CARDIOVASCULAR MAGNETIC RESONANCE; CHILD; CONGESTIVE CARDIOMYOPATHY; CONTROLLED STUDY; DISEASE SEVERITY; ECHOCARDIOGRAPHY; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENOTYPING TECHNIQUE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; IMAGE ANALYSIS; IMMUNOREACTIVITY; MAJOR CLINICAL STUDY; MALE; MOUSE; MUTATIONAL ANALYSIS; NEWBORN; NONHUMAN; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; RNA SPLICING; STOP CODON; ANIMAL; CARDIAC MUSCLE CELL; CARDIOMYOPATHIES; CELL DIFFERENTIATION; EXOME; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETICS; MUTATION; ONSET AGE; PHYSIOLOGY; PROCEDURES; PROGNOSIS;

MIDORI PROTEIN, MOUSE; MUSCLE PROTEIN;

AGE OF ONSET; ANIMALS; CARDIOMYOPATHIES; CELL DIFFERENTIATION; ECHOCARDIOGRAPHY; EXOME; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MICE; MUSCLE PROTEINS; MUTATION; MYOCYTES, CARDIAC; PROGNOSIS;

EID: 84973460050     PISSN: 07351097     EISSN: 15583597     Source Type: Journal    
DOI: 10.1016/j.jacc.2015.10.093     Document Type: Article

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