P387Knock-in mouse model of PRKAG2 cardiomyopathy (R299Q) exhibits altered Ca2+-dependent cardiac contractility and reduced protein kinase A activity.
Familial hypertrophic cardiomyopathy (HCM) is most commonly caused by mutations in sarcomeric proteins; however, a unifying mechanism of disease pathogenesis has yet to be identified. Beyond the sarcomere, mutations in the gene (PRKAG2) encoding the γ2 subunit of AMP-activated protein kinase (AMPK),...
| Main Authors: | , , , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
2014
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