Article

Location-Dependent Differences in Cardiac and Skeletal Muscle Dysfunction Associated With Truncating Titin ( <i>ttn.2</i> ) Variants

2024-12-22

Abstract excerpt

<h4>Background</h4> Truncating variants ( TTN tv) in the TTN gene, encoding the giant sarcomeric protein titin, cause a range of human cardiac and skeletal muscle disorders of varying penetrance and severity. The effects of variant location on clinical manifestations are incompletely understood. <h4>Methods</h4> We generated six zebrafish lines carrying tv in the ttn.2 gene at the Z-disk, I-band, A-band, and...

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Literature Corpus work: f609e54c-cd85-54b4-8a1c-d0d7241dbba3
DOI: 10.1101/2024.12.20.629850

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