TTN:c.12478del in proximal I-band of titin represents a common molecular cause of dilated cardiomyopathy in Slovenian patients
Abstract Background Titin truncating variants (TTNtv-s) are the most common genetic cause of dilated cardiomyopathy (DCM). Only rare TTNtv-s in the constitutively expressed exons of the A-band of the protein titin are associated with DCM according to the guidelines, however, studies in large cohorts...
| Published in: | Orphanet Journal of Rare Diseases |
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| Main Authors: | , , , , |
| Format: | Article |
| Language: | English |
| Published: |
BMC
2025-02-01
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| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-025-03613-7 |