Biallelic truncating variants in children with titinopathy represent a recognizable condition with distinctive muscular and cardiac characteristics: a report on five patients

BackgroundMonoallelic and biallelic TTN truncating variants (TTNtv) may be responsible for a wide spectrum of musculoskeletal and cardiac disorders with different age at onset. Although the prevalence of heterozygous TTNtv is relatively high in the general population, cardiac phenotyping (mainly car...

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Autors principals:	Anwar Baban, Marianna Cicenia, Monia Magliozzi, Giovanni Parlapiano, Marco Cirillo, Giulia Pascolini, Fabiana Fattori, Maria Gnazzo, Pasqualina Bruno, Lorenzo De Luca, Luca Di Chiara, Paola Francalanci, Bjarne Udd, Aurelio Secinaro, Antonio Amodeo, Enrico Silvio Bertini, Marco Savarese, Fabrizio Drago, Antonio Novelli
Format:	Artigo
Idioma:	Inglês
Publicat:	Frontiers Media S.A. 2023-07-01
Col·lecció:	Frontiers in Cardiovascular Medicine
Matèries:	titinopathy titin (TTN) truncating variant dilated cardiomyopathy neuromuscular disease heart failure
Accés en línia:	https://www.frontiersin.org/articles/10.3389/fcvm.2023.1210378/full
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