Lamin A/C-Related Cardiac Disease: Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder Mutation [Original Articles]

Conclusions—
Clinical, morphological, functional, haplotype, and segregation data all indicate that LMNA p.(Arg331Gln) is a pathogenic founder mutation with a phenotype reminiscent of other LMNA mutations but with a more benign course.

Source: Circulation: Cardiovascular Genetics - August 8, 2017 Category: Cardiology Authors: Hoorntje, E. T., Bollen, I. A., Barge-Schaapveld, D. Q., van Tienen, F. H., te Meerman, G. J., Jansweijer, J. A., van Essen, A. J., Volders, P. G., Constantinescu, A. A., van den Akker, P. C., van Spaendonck-Zwarts, K. Y., Oldenburg, R. A., Marcelis, C. L Tags: Etiology, Genetics, Cardiomyopathy, Mortality/Survival Original Articles Source Type: research