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Clinical Considerations for a Family with Dilated Cardiomyopathy, Sudden Cardiac Death, and a Novel TTN Frameshift Mutation

Dilated cardiomyopathy (DCM) is the leading indication for heart transplantation. TTN gene truncating mutations account for about 25% of familial DCM cases and for 18% of sporadic DCM cases. The clinical relevance of specific variants in TTN has been difficult to determine because of the sheer size...

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Detalles Bibliográficos
Autores principales: Micaglio, Emanuele, Monasky, Michelle M., Bernardini, Andrea, Mecarocci, Valerio, Borrelli, Valeria, Ciconte, Giuseppe, Locati, Emanuela T., Piccoli, Marco, Ghiroldi, Andrea, Anastasia, Luigi, Pappone, Carlo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7826882/
https://www.ncbi.nlm.nih.gov/pubmed/33445410
http://dx.doi.org/10.3390/ijms22020670