De Novo Missense Mutations in TNNC1 and TNNI3 Causing Severe Infantile Cardiomyopathy Affect Myofilament Structure and Function and Are Modulated by Troponin Targeting Agents

Rare pediatric non-compaction and restrictive cardiomyopathy are usually associated with a rapid and severe disease progression. While the non-compaction phenotype is characterized by structural defects and is correlated with systolic dysfunction, the restrictive phenotype exhibits diastolic dysfunc...

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Detalles Bibliográficos
Autores principales: Hassoun, Roua, Budde, Heidi, Mannherz, Hans Georg, Lódi, Mária, Fujita-Becker, Setsuko, Laser, Kai Thorsten, Gärtner, Anna, Klingel, Karin, Möhner, Desirée, Stehle, Robert, Sultana, Innas, Schaaf, Thomas, Majchrzak, Mario, Krause, Verena, Herrmann, Christian, Nowaczyk, Marc M., Mügge, Andreas, Pfitzer, Gabriele, Schröder, Rasmus R., Hamdani, Nazha, Milting, Hendrik, Jaquet, Kornelia, Cimiotti, Diana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8431798/
https://www.ncbi.nlm.nih.gov/pubmed/34502534
http://dx.doi.org/10.3390/ijms22179625

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