Recurrent and founder mutations in the Netherlands: Plakophilin-2 p.Arg79X mutation causing arrhythmogenic right ventricular cardiomyopathy/dysplasia

Netherlands Heart Journal

Volumn 18, Issue 12, 2010, Pages 583-591

  van der Zwaag, P A ^a   Cox, M G P J ^b   van der Werf, C ^c   Wiesfeld, A C P ^a   Jongbloed, J D H ^a   Dooijes, D ^d   Bikker, H ^c   Jongbloed, R ^e   Suurmeijer, A J H ^a   van den Berg, M P ^a   Hofstra, R M W ^a   Hauer, R N W ^b   Wilde, A A M ^f   van Tintelen, J P ^a  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^b ROYAL NETHERLANDS ACADEMY OF ARTS AND SCIENCES   (Netherlands)

^c UNIVERSITY OF AMSTERDAM   (Netherlands)

^d UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^e MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^f ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

ARVC D; Cardiomyopathy; Founder mutation; Genetics; PKP2

Indexed keywords

ARGININE; DESMIN; PLAKOGLOBIN; PLAKOPHILIN; PLAKOPHILIN 2; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGE; AGED; ARTICLE; CONTROLLED STUDY; DESMOSOME; DISEASE FREE SURVIVAL; EVENT FREE SURVIVAL; FAMILY HISTORY; FAMILY STUDY; FEMALE; GENE MUTATION; HAPLOTYPE; HEART RIGHT VENTRICLE DYSPLASIA; HUMAN; MAJOR CLINICAL STUDY; MALE; NETHERLANDS; PATHOGENESIS; PENETRANCE; PHENOTYPE; SEX DIFFERENCE; SUDDEN DEATH; SYMPTOM; UNIVERSITY HOSPITAL;

EID: 79751479558     PISSN: 15685888     EISSN: None     Source Type: Journal    
DOI: 10.1007/s12471-010-0839-5     Document Type: Article

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