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

De Novo Missense Mutations in <i>TNNC1</i> and <i>TNNI3</i> 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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Bibliographic Details
Main Authors: Roua Hassoun, Heidi Budde, Hans Georg Mannherz, Mária Lódi, Setsuko Fujita-Becker, Kai Thorsten Laser, Anna Gärtner, Karin Klingel, Desirée Möhner, Robert Stehle, Innas Sultana, Thomas Schaaf, Mario Majchrzak, Verena Krause, Christian Herrmann, Marc M. Nowaczyk, Andreas Mügge, Gabriele Pfitzer, Rasmus R. Schröder, Nazha Hamdani, Hendrik Milting, Kornelia Jaquet, Diana Cimiotti
Format: Article
Language:English
Published: MDPI AG 2021-09-01
Series:International Journal of Molecular Sciences
Subjects:
cardiomyopathy
pediatric
troponin mutation
skinned cardiomyocytes
skinned fibers
thin filaments
Online Access:https://www.mdpi.com/1422-0067/22/17/9625

Internet

https://www.mdpi.com/1422-0067/22/17/9625

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