Left ventricular non-compaction cardiomyopathy associated with the PRKAG2 mutation

Jing Zhang, Xiu Han, Qun Lu, Yunfei Feng, Aiqun Ma & Tingzhong Wang
Abstract Left ventricular non-compaction cardiomyopathy (LVNC) is one of the most common inherited cardiovascular diseases. The genetic backgrounds of most LVNC patients are not fully understood. We collected clinical data, family histories, and blood samples and performed genetic analysis using next-generation sequencing (NGS) from a Chinese family of 15 subjects. Clinically LVNC affected subjects showed marked cardiac phenotype heterogeneity. We found that these subjects with LVNC carried a missense heterozygous genetic mutation c.905G>A (p.R302Q) in...
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