Novel calmodulin mutations associated with congenital long QT syndrome affect calcium current in human cardiomyocytes.
Heart Rhythm(2016)
摘要
Our findings implicate impaired Ca(2+)-dependent inactivation in human cardiomyocytes as the plausible mechanism for long QT syndrome associated with 2 novel CaM mutations. The data further expand the spectrum of genotype and phenotype associated with calmodulinopathy.
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关键词
Arrhythmia,Calmodulin,Long QT syndrome,Calcium channel
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