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Article

Use of animal models to understand titin physiology and pathology.

Journal of cellular and molecular medicine - 1 Oct 2022

Marcello Matteo, Cetrangolo Viviana, Savarese Marco, Udd Bjarne

Abstract excerpt

In recent years, increasing attention has been paid to titin (TTN) and its mutations. Heterozygous TTN truncating variants (TTNtv) increase the risk of a cardiomyopathy. At the same time, TTNtv and few missense variants have been identified in patients with mainly recessive skeletal muscle diseases. The pathogenic mechanisms underlying titin-related diseases are still partly unknown. Similarly, the titin...

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Identifiers

PMID: 36065969
DOI: 10.1111/jcmm.17533
PMCID: PMC9575118

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