Exploring TTN variants as genetic insights into cardiomyopathy pathogenesis and potential emerging clues to molecular mechanisms in cardiomyopathies

Exploring TTN variants as genetic insights into cardiomyopathy pathogenesis and potential emerging clues to molecular mechanisms in cardiomyopathies

Abstract The giant protein titin (TTN) is a sarcomeric protein that forms the myofibrillar backbone for the components of the contractile machinery which plays a crucial role in muscle disorders and cardiomyopathies. Diagnosing TTN pathogenic variants has important implications for patient managemen...

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Bibliographic Details
Main Authors: Amir Ghaffari Jolfayi, Erfan Kohansal, Serwa Ghasemi, Niloofar Naderi, Mahshid Hesami, MohammadHossein MozafaryBazargany, Maryam Hosseini Moghadam, Amir Farjam Fazelifar, Majid Maleki, Samira Kalayinia
Format: Article
Language:English
Published: Nature Portfolio 2024-03-01
Series:Scientific Reports
Subjects:
TTN
Titin
Cardiomyopathy
Variant
Genetic
Online Access:https://doi.org/10.1038/s41598-024-56154-7

Internet

https://doi.org/10.1038/s41598-024-56154-7

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