Intrafamilial Phenotypical Variability Linked to PRKAG2 Mutation—Family Case Report and Review of the Literature

PRKAG2 syndrome (PS) is a rare, early-onset autosomal dominant phenocopy of sarcomeric hypertrophic cardiomyopathy (HCM), that mainly presents with ventricular pre-excitation, cardiac hypertrophy and progressive conduction system degeneration. Its natural course, treatment and prognosis are signific...

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Bibliographic Details
Main Authors: Andreea Sorina Marcu, Radu Vătăşescu, Sebastian Onciul, Viorica Rădoi, Ruxandra Jurcuţ
Format: Article
Language:English
Published: MDPI AG 2022-12-01
Series:Life
Subjects:
Online Access:https://www.mdpi.com/2075-1729/12/12/2136