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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Detalles Bibliográficos
Autores principales: Marcu, Andreea Sorina, Vătăşescu, Radu, Onciul, Sebastian, Rădoi, Viorica, Jurcuţ, Ruxandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9788523/
https://www.ncbi.nlm.nih.gov/pubmed/36556501
http://dx.doi.org/10.3390/life12122136

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9788523/
https://www.ncbi.nlm.nih.gov/pubmed/36556501
http://dx.doi.org/10.3390/life12122136

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