Biallelic variants in FLII cause pediatric cardiomyopathy by disrupting cardiomyocyte cell adhesion and myofibril organization

Pediatric cardiomyopathy (CM) represents a group of rare, severe disorders that affect the myocardium. To date, the etiology and mechanisms underlying pediatric CM are incompletely understood, hampering accurate diagnosis and individualized therapy development. Here, we identified biallelic variants...

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Detalles Bibliográficos
Autores principales: Ruijmbeek, Claudine W.B., Housley, Filomena, Idrees, Hafiza, Housley, Michael P., Pestel, Jenny, Keller, Leonie, Lai, Jason K.H., van der Linde, Herma C., Willemsen, Rob, Piesker, Janett, Al-Hassnan, Zuhair N., Almesned, Abdulrahman, Dalinghaus, Michiel, van den Bersselaar, Lisa M., van Slegtenhorst, Marjon A., Tessadori, Federico, Bakkers, Jeroen, van Ham, Tjakko J., Stainier, Didier Y.R., Verhagen, Judith M.A., Reischauer, Sven
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10544232/
https://www.ncbi.nlm.nih.gov/pubmed/37561591
http://dx.doi.org/10.1172/jci.insight.168247

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