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
Topics & Concepts
Sudden cardiac deathMissense mutationHypertrophic cardiomyopathyProbandMedicineDiseaseCardiomyopathyCardiologyInternal medicineDilated cardiomyopathyPhenotypeGeneticsGeneBiologyMutationHeart failureCardiomyopathy and Myosin StudiesCardiac electrophysiology and arrhythmiasCardiovascular Effects of Exercise