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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Autori principali: Beatrice Badone, Carlotta Ronchi, Maria-Christina Kotta, Luca Sala, Alice Ghidoni, Lia Crotti, Antonio Zaza
Natura: Artigo
Lingua:Inglês
Pubblicazione: Frontiers Media S.A. 2018-12-01
Serie:Frontiers in Cardiovascular Medicine
Soggetti:
calmodulin mutations
ion channels
repolarization
Ca2+ handling
arrhythmia mechanisms
Accesso online:https://www.frontiersin.org/article/10.3389/fcvm.2018.00176/full
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