A Novel Nonsense Pathogenic TTN Variant Identified in a Patient with Severe Dilated Cardiomyopathy

Both genetic and environmental factors contribute to the development of dilated cardiomyopathy. Among the genes involved, TTN mutations, including truncated variants, explain 25% of DCM cases. We performed genetic counseling and analysis on a 57-year-old woman diagnosed with severe DCM and presentin...

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Detalles Bibliográficos
Autores principales: Micolonghi, Caterina, Fabiani, Marco, Pagannone, Erika, Savio, Camilla, Ricci, Marta, Caroselli, Silvia, Gambioli, Vittoria, Musumeci, Beatrice, Germani, Aldo, Tini, Giacomo, Autore, Camillo, Pizzuti, Antonio, Visco, Vincenzo, Rubattu, Speranza, Petrucci, Simona, Piane, Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10047881/
https://www.ncbi.nlm.nih.gov/pubmed/36975527
http://dx.doi.org/10.3390/cimb45030157

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