Novel Junctophilin-2 Mutation A405S Is Associated With Basal Septal Hypertrophy and Diastolic Dysfunction

Novel Junctophilin-2 Mutation A405S Is Associated With Basal Septal Hypertrophy and Diastolic Dysfunction

Summary: Junctophilin-2 (JPH2) is a structural calcium (Ca2+) handling protein, which approximates the cardiomyocyte transverse tubules (TTs) to the sarcoplasmic reticulum. This facilitates communication of the voltage-gated Ca2+ channel and the ryanodine receptor RyR2. A human patient with hypertro...

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Main Authors: Ann P. Quick, BA, Andrew P. Landstrom, MD, PhD, Qiongling Wang, PhD, David L. Beavers, MD, PhD, Julia O. Reynolds, BS, Giselle Barreto-Torres, PhD, Viet Tran, MD, Jordan Showell, BS, Leonne E. Philippen, MSc, Shaine A. Morris MD, MPH, Darlene Skapura, BS, J. Martijn Bos, MD, Steen E. Pedersen, PhD, Robia G. Pautler, PhD, Michael J. Ackerman, MD, PhD, Xander H.T. Wehrens, MD, PhD
Format: Article
Language:English
Published: Elsevier 2017-02-01
Series:JACC: Basic to Translational Science
Online Access:http://www.sciencedirect.com/science/article/pii/S2452302X1630170X

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http://www.sciencedirect.com/science/article/pii/S2452302X1630170X

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