Article
Cardiac manifestations of PRKAG2 mutation.
BMC medical genetics - 3 Jan 2018
Banankhah Pooya, Fishbein Gregory A, Dota Anthony, Ardehali Reza
Abstract excerpt
BACKGROUND: The Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2 (PRKAG2) cardiac syndrome is characterized by glycogen accumulation in the cardiac tissue. The disease presents clinically with hypertrophic cardiomyopathy (HCM), and it is often associated with conduction abnormalities. CASE PRESENTATION: A 23 year-old female with history of Wolff-Parkinson-White (WPW) and HCM presented for evaluation...
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