Novel Mutation of Plakophilin-2 Associated With Arrhythmogenic Right Ventricular Cardiomyopathy
Author:
Affiliation:
1. Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science
2. Division of Cardiology, Yamaguchi University Graduated School of Medicine
Publisher
Japanese Circulation Society
Subject
Cardiology and Cardiovascular Medicine,General Medicine
Link
http://www.jstage.jst.go.jp/article/circj/70/7/70_7_933/_pdf
Reference11 articles.
1. Arrhythmogenic right ventricular cardiomyopathy
2. Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2)
3. Denaturing HPLC-Based Approach for Detecting RYR2 Mutations Involved in Malignant Arrhythmias
4. Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy
5. Requirement of plakophilin 2 for heart morphogenesis and cardiac junction formation
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1. Late presentation of arrhythmogenic right ventricular cardiomyopathy in an octogenarian associated with a pathogenic variant in the plakophilin 2 gene: a case report;BMC Cardiovascular Disorders;2019-02-19
2. Pathophysiology of the Desmo-Adhesome;Journal of Cellular Physiology;2016-10-27
3. Desmosomes in disease: a guide for clinicians;Oral Diseases;2016-07-19
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5. Comprehensive analysis of desmosomal gene mutations in Han Chinese patients with arrhythmogenic right ventricular cardiomyopathy;European Journal of Medical Genetics;2015-04
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