Condition: Electrocardiogram change


rs121434420 in PKP2 gene and Electrocardiogram change PMID 24704780 2014 Truncating plakophilin-2 mutations in arrhythmogenic cardiomyopathy are associated with protein haploinsufficiency in both myocardium and epidermis.

PMID 21301620 2010 Recurrent and founder mutations in the Netherlands : Plakophilin-2 p.Arg79X mutation causing arrhythmogenic right ventricular cardiomyopathy/dysplasia.

PMID 19084810 2008 Characterization of the molecular phenotype of two arrhythmogenic right ventricular cardiomyopathy (ARVC)-related plakophilin-2 (PKP2) mutations.

PMID 27532257 2017 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

PMID 20197793 2010 The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy.

PMID 20031616 2009 Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study.

PMID 16567567 2006 Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy.

PMID 20152563 2010 Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy.

PMID 25820315 2015 Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family Members.

PMID 21723241 2011 Clinical phenotype and diagnosis of arrhythmogenic right ventricular cardiomyopathy in pediatric patients carrying desmosomal gene mutations.

PMID 24768880 2014 Reply: The MOGE(S) classification for a phenotype-genotype nomenclature of cardiomyopathy: more questions than answers?

PMID 25971409 2015 Maturation-Based Model of Arrhythmogenic Right Ventricular Dysplasia Using Patient-Specific Induced Pluripotent Stem Cells.

PMID 23354045 2013 Studying arrhythmogenic right ventricular dysplasia with patient-specific iPSCs.

PMID 17010805 2006 Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathy.

PMID 29221435 2017 Exploring digenic inheritance in arrhythmogenic cardiomyopathy.

PMID 28097316 2017 Evaluation of Structural Progression in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy.

PMID 16549640 2006 Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2.

PMID 20031617 2009 Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy.

PMID 20857253 2010 Shared desmosome gene findings in early and late onset arrhythmogenic right ventricular dysplasia/cardiomyopathy.

rs879253730 in SCN3B gene and Electrocardiogram change PMID 27435932 2016 Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young.

rs372949028 in TANGO2 gene and Electrocardiogram change PMID 26805781 2016 Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.