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Personalized Medicine Approach in a DCM Patient with LMNA Mutation Reveals Dysregulation of mTOR Signaling

Background: Mutations in the Lamin A/C (LMNA) gene are responsible for about 6% of all familial dilated cardiomyopathy (DCM) cases which tend to present at a young age and follow a fulminant course. Methods: We report a 47-year-old DCM patient with severely impaired left ventricular ejection fractio...

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Detalles Bibliográficos
Autores principales: Neupane, Balram, Pradhan, Kabita, Ortega-Ramirez, Audrey Magdalena, Aidery, Parwez, Kucikas, Vytautas, Marks, Matthias, van Zandvoort, Marc A. M. J., Klingel, Karin, Witte, Klaus K., Gründer, Stefan, Marx, Nikolaus, Gramlich, Michael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9323361/
https://www.ncbi.nlm.nih.gov/pubmed/35887646
http://dx.doi.org/10.3390/jpm12071149