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

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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Bibliographic Details
Main Authors: Beatrice Badone, Carlotta Ronchi, Maria-Christina Kotta, Luca Sala, Alice Ghidoni, Lia Crotti, Antonio Zaza
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-12-01
Series:Frontiers in Cardiovascular Medicine
Subjects:
calmodulin mutations
ion channels
repolarization
Ca2+ handling
arrhythmia mechanisms
Online Access:https://www.frontiersin.org/article/10.3389/fcvm.2018.00176/full

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https://www.frontiersin.org/article/10.3389/fcvm.2018.00176/full

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