A novel lamin A/C gene missense mutation (445 V > E) in immunoglobulin-like fold associated with left ventricular non-compaction

Conclusion
Our data associated a novel lamin A/C mutation (V445E) with a sudden death form of familial LVNC. The reduced sodium current in mutant LMNA may account for the advent of malignant ventricular arrhythmias. The altered structures of three β sheets and side chains may partially explain the aggregation of lamin A/C protein subjacent to the nuclear envelope.

Source: Europace - May 11, 2016 Category: Cardiology Authors: Liu, Z., Shan, H., Huang, J., Li, N., Hou, C., Pu, J. Tags: Channelopathies Source Type: research