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The Junctophilin-2 Mutation p.(Thr161Lys) Is Associated With Hypertrophic Cardiomyopathy Using Patient-Specific iPS Cardiomyocytes and Demonstrates Prolonged Action Potential and Increased Arrhythmogenicity

The junctophilin-2 mutation p.(Thr161Lys) is associated with hypertrophic cardiomyopathy using patient-specific iPS cardiomyocytes and demonstrates prolonged action potential and increased arrhythmogenicity

Authors: Valtonen J, Prajapati C, Cherian RM, Vanninen S, Ojala M, Leivo K, Heliö T, Koskenvuo J, Aalto-Setälä K

Biomedicines. 2023 May 27;11(6):1558. doi: 10.3390/biomedicines11061558

Specialties: Genetics, Endocrinology, Cardiology, Cardiovascular disease

Disclaimer: One or more of the authors of this publication were employed at the time by Blueprint Genetics, a subsidiary of Quest Diagnostics.