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One gene, two modes of inheritance, four diseases: A systematic review of the cardiac manifestation of pathogenic variants in JPH2-encoded junctophilin-2

Lauren E. Parker, Ryan J. Kramer, Samantha Kaplan, Andrew P. Landstrom

2021Trends in Cardiovascular Medicine22 citationsDOIOpen Access PDF

Topics & Concepts

Sudden cardiac deathMissense mutationHypertrophic cardiomyopathyProbandMedicineDiseaseCardiomyopathyCardiologyInternal medicineDilated cardiomyopathyPhenotypeGeneticsGeneBiologyMutationHeart failureCardiomyopathy and Myosin StudiesCardiac electrophysiology and arrhythmiasCardiovascular Effects of Exercise
One gene, two modes of inheritance, four diseases: A systematic review of the cardiac manifestation of pathogenic variants in JPH2-encoded junctophilin-2 | Litcius