[Distribution characteristics of PKP2 non-synonymous variations in protein domain and genotype-phenotype relationship in patients with arrhythmogenic right ventricular cardiomyopathy].
Abstract
The PKP2 nsSNVs associated with ARVC are enriched in the Arm1, Arm2, Arm3, and Arm7 structural domains, with a higher proportion of pathogenic or likely pathogenic variants in the Arm3 and Arm5 domains. Moreover, Region 1 significantly increases the risk of ventricular arrhythmia among ARVC patients.
Fields of Study & Subjects
Cardiovascular Effects of Exercise
Cardiac electrophysiology and arrhythmias
Cardiomyopathy and Myosin Studies
Publication details
- Journal / source
- PubMed
- Volume
- 54
- Issue
- 1
- Pages
- 69–74
- Publication date
- 24 January 2026
- Language
- ZH