Article
A Titin Knock-in model for Hereditary Myopathy with Early Respiratory Failure
2026-02-19
Abstract excerpt
<title>Abstract</title> <p> Titin, the largest muscle protein, plays a key role in the architecture of sarcomeres in both the heart and skeletal muscles. Due to its crucial role, variants in this gene have a critical impact on human health. Titinopathies include severe cardiomyopathies and dominant and recessive skeletal muscle diseases, associated with several pathogenic variants. Among these, titin A150/FN3-11...
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Identifiers and source
- Literature Corpus work
- b644cc2f-7eaf-5716-a229-51bca0f89281
- DOI
- 10.21203/rs.3.rs-8840201/v1
