Article
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.
Circulation. Cardiovascular genetics - 1 Aug 2017
Hoorntje Edgar T, Bollen Ilse A, Barge-Schaapveld Daniela Q, van Tienen Florence H, Te Meerman Gerard J, Jansweijer Joeri A, van Essen Anthonie J, Volders Paul G, Constantinescu Alina A, van den Akker Peter C, van Spaendonck-Zwarts Karin Y, Oldenburg Rogier A, Marcelis Carlo L, van der Smagt Jasper J, Hennekam Eric A, Vink Aryan, Bootsma Marianne, Aten Emmelien, Wilde Arthur A, van den Wijngaard Arthur, Broers Jos L, Jongbloed Jan D, van der Velden Jolanda, van den Berg Maarten P, van Tintelen J Peter
Abstract excerpt
BACKGROUND: Interpretation of missense variants can be especially difficult when the variant is also found in control populations. This is what we encountered for the LMNA c.992G>A (p.(Arg331Gln)) variant. Therefore, to evaluate the effect of this variant, we combined an evaluation of clinical data with functional experiments and morphological studies. METHODS AND RESULTS: Clinical data of 23 probands and 35...
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