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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...
Autores principales: | Marcu, Andreea Sorina, Vătăşescu, Radu, Onciul, Sebastian, Rădoi, Viorica, Jurcuţ, Ruxandra |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
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 |
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