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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Hlavní autoři: Beatrice Badone, Carlotta Ronchi, Maria-Christina Kotta, Luca Sala, Alice Ghidoni, Lia Crotti, Antonio Zaza
Médium: Artigo
Jazyk:Inglês
Vydáno: Frontiers Media S.A. 2018-12-01
Edice:Frontiers in Cardiovascular Medicine
Témata:
calmodulin mutations
ion channels
repolarization
Ca2+ handling
arrhythmia mechanisms
On-line přístup:https://www.frontiersin.org/article/10.3389/fcvm.2018.00176/full
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