Low expression of the K280N TNNT2 mutation is sufficient to increase basal myofilament activation in human hypertrophy cardiomyopathy

BACKGROUND: Hypertrophic cardiomyopathy (HCM) is an autosomal dominant genetic disorder with patients typically showing heterozygous inheritance of a pathogenic variant in a gene encoding a contractile protein. Here, we study the contractile effects of a rare homozygous mutation using explanted tiss...

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Detalles Bibliográficos
Autores principales: Sequeira, Vasco, Wang, Lili, Wijnker, Paul J.M., Kim, Kyungsoo, Pinto, Jose R., dos Remedios, Cris, Redwood, Charles, Knollmann, Bjorn C., van der Velden, Jolanda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier, Inc 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10160007/
https://www.ncbi.nlm.nih.gov/pubmed/37159677
http://dx.doi.org/10.1016/j.jmccpl.2022.100007

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10160007/
https://www.ncbi.nlm.nih.gov/pubmed/37159677
http://dx.doi.org/10.1016/j.jmccpl.2022.100007

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