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

BACKGROUND: Monoallelic 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 c...

Descripción completa

Detalles Bibliográficos
Autores principales: Baban, Anwar, Cicenia, Marianna, Magliozzi, Monia, Parlapiano, Giovanni, Cirillo, Marco, Pascolini, Giulia, Fattori, Fabiana, Gnazzo, Maria, Bruno, Pasqualina, De Luca, Lorenzo, Di Chiara, Luca, Francalanci, Paola, Udd, Bjarne, Secinaro, Aurelio, Amodeo, Antonio, Bertini, Enrico Silvio, Savarese, Marco, Drago, Fabrizio, Novelli, Antonio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Cardiovascular Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10415037/
https://www.ncbi.nlm.nih.gov/pubmed/37576110
http://dx.doi.org/10.3389/fcvm.2023.1210378

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10415037/
https://www.ncbi.nlm.nih.gov/pubmed/37576110
http://dx.doi.org/10.3389/fcvm.2023.1210378

Ejemplares similares