%0 Journal Article
%T Original research article: Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature
%A Ben O'Brien
%A Dina Radenkovic
%A Eloisa Arbustini
%A Gabriella Captur
%A James C Moon
%A Petros Syrris
%A William J Mckenna
%J Archive of "Open Heart".
%D 2018
%R 10.1136/openhrt-2018-000915
%X Two LMNA genotype¨Cphenotype cardiac correlations are reported: first, that cardiac involvement in multisystem laminopathies prevails with mutations upstream of the nuclear localisation signal (NLS); second, that worse outcomes occur with non-missense (compared with missense) mutations. We tested whether LMNA mutation DNA location and mutation subtype can predict phenotype severity in patients with lamin heart disease
%K heart failure
%K systolic dysfunction
%K gene association
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6203068/