TTN novel splice variant in familial dilated cardiomyopathy and splice variants review: a case report

TTN novel splice variant in familial dilated cardiomyopathy and splice variants review: a case report

This case report details the identification of a novel likely pathogenic splicing variant in the TTN gene, associated with dilated cardiomyopathy (DCM), in a 42-year-old male patient presenting with early-onset heart failure and reduced ejection fraction. DCM is a nonischemic heart condition charact...

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Dettagli Bibliografici
Autori principali: Paul León, Paula Franco, Nicole Hinojosa, Kevin Torres, Andrés Moreano, Vanessa I. Romero
Natura: Articolo
Lingua:English
Pubblicazione: Frontiers Media S.A. 2024-06-01
Serie:Frontiers in Cardiovascular Medicine
Soggetti:
dilated cardiomyopathy
TTN gene
Ecuador
splicing
truncated variants
case report
Accesso online:https://www.frontiersin.org/articles/10.3389/fcvm.2024.1387063/full

Accesso online

https://www.frontiersin.org/articles/10.3389/fcvm.2024.1387063/full

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