Calmodulinopathy: Functional Effects of CALM Mutations and Their Relationship With Clinical Phenotypes

In spite of the widespread role of calmodulin (CaM) in cellular signaling, CaM mutations lead specifically to cardiac manifestations, characterized by remarkable electrical instability and a high incidence of sudden death at young age. Penetrance of the mutations is surprisingly high, thus postulati...

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Detalles Bibliográficos
Autores principales: Badone, Beatrice, Ronchi, Carlotta, Kotta, Maria-Christina, Sala, Luca, Ghidoni, Alice, Crotti, Lia, Zaza, Antonio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Cardiovascular Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6297375/
https://www.ncbi.nlm.nih.gov/pubmed/30619883
http://dx.doi.org/10.3389/fcvm.2018.00176

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6297375/
https://www.ncbi.nlm.nih.gov/pubmed/30619883
http://dx.doi.org/10.3389/fcvm.2018.00176

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