Identification of a pkp2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy

European Journal of Human Genetics

Volumn 21, Issue 11, 2013, Pages 1226-1231

  Li Mura, Ilena Egle Astrid ^a   Bauce, Barbara ^a   Nava, Andrea ^a   Fanciulli, Manuela ^b   Vazza, Giovanni ^a   Mazzotti, Elisa ^a   Rigato, Ilaria ^a   De Bortoli, Marzia ^a   Beffagna, Giorgia ^a   Lorenzon, Alessandra ^a   Calore, Martina ^a   Dazzo, Emanuela ^a   Nobile, Carlo ^a   Luisa Mostacciuolo, Maria ^a   Corrado, Domenico ^a   Basso, Cristina ^a   Daliento, Luciano ^a   Thiene, Gaetano ^a   Rampazzo, Alessandra ^a  

^a UNIVERSITY OF PADOVA   (Italy)

^b Porto Conte Ricerche Srl   (Italy)

Author keywords

cardiomyopathy; desmosome; gene deletion; plakophilin 2; sudden death

Indexed keywords

BETA ACTIN; PLAKOPHILIN; PLAKOPHILIN 2; TATA BINDING PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CHROMOSOME 12; CHROMOSOME 12P; CLINICAL ARTICLE; CLINICAL EVALUATION; CLINICAL FEATURE; CONTROLLED STUDY; COPY NUMBER VARIATION; DESMOSOME; DYSPNEA; ELECTROCARDIOGRAPHY; FAMILY HISTORY; GENE DELETION; GENE DOSAGE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENOTYPE; HEART LEFT BUNDLE BRANCH BLOCK; HEART RIGHT BUNDLE BRANCH BLOCK; HEART RIGHT VENTRICLE DYSPLASIA; HEART VENTRICLE EXTRASYSTOLE; HEART VENTRICLE TACHYCARDIA; HEMIZYGOSITY; HOLTER MONITORING; HUMAN; HYPOKINESIA; LINKAGE ANALYSIS; MALE; MUTATIONAL ANALYSIS; PHYSICAL EXAMINATION; POINT MUTATION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SUDDEN CARDIAC DEATH; THORAX PAIN;

ADULT; AGED; AGED, 80 AND OVER; ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA; CHROMOSOMES, HUMAN, PAIR 12; DNA COPY NUMBER VARIATIONS; FAMILY; FEMALE; GENE DELETION; GENE DOSAGE; GENETIC LINKAGE; HUMANS; MALE; MIDDLE AGED; PEDIGREE; PLAKOPHILINS; REAL-TIME POLYMERASE CHAIN REACTION; YOUNG ADULT;

EID: 84885943057     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.39     Document Type: Article

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