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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Publicado en:Front Cardiovasc Med
Autores principales: Badone, Beatrice, Ronchi, Carlotta, Kotta, Maria-Christina, Sala, Luca, Ghidoni, Alice, Crotti, Lia, Zaza, Antonio
Formato: Artigo
Lenguaje:Inglês
Publicado: Frontiers Media S.A. 2018
Materias:
Cardiovascular Medicine
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6297375/
https://ncbi.nlm.nih.gov/pubmed/30619883
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fcvm.2018.00176
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