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A Novel Nonsense Pathogenic <i>TTN</i> 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, <i>TTN</i> 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 pr...

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Principais autores: Caterina Micolonghi, Marco Fabiani, Erika Pagannone, Camilla Savio, Marta Ricci, Silvia Caroselli, Vittoria Gambioli, Beatrice Musumeci, Aldo Germani, Giacomo Tini, Camillo Autore, Antonio Pizzuti, Vincenzo Visco, Speranza Rubattu, Simona Petrucci, Maria Piane
Format: Artigo
Sprog:Inglês
Udgivet: MDPI AG 2023-03-01
Serier:Current Issues in Molecular Biology
Fag:
dilated cardiomyopathy
genetic
TTN
nonsense pathogenic variant
M-band region
sudden cardiac death
Online adgang:https://www.mdpi.com/1467-3045/45/3/157
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