Novel Mutation in FLNC (Filamin C) Causes Familial Restrictive Cardiomyopathy [Original Articles]

Conclusion— We have identified a novel variant in FLNC as pathogenic variant for familial RCM—a finding that further expands on the genetic basis of this rare and morbid cardiomyopathy.

http://circgenetics.ahajournals.org/cgi/content/short/10/6/e001780?rss=1

Source: Circulation: Cardiovascular Genetics - December 6, 2017 Category: Cardiology Authors: Tucker, N. R., McLellan, M. A., Hu, D., Ye, J., Parsons, V. A., Mills, R. W., Clauss, S., Dolmatova, E., Shea, M. A., Milan, D. J., Scott, N. S., Lindsay, M., Lubitz, S. A., Domian, I. J., Stone, J. R., Lin, H., Ellinor, P. T. Tags: Contractile Function, Genetics, Cardiomyopathy Original Articles Source Type: research