Abstract

1of 5 ONLINE MUTATION REPORT Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes M Vytopil, S Benedetti, E Ricci, G Galluzzi, A Dello Russo, L Merlini, G Boriani, M Gallina, L Morandi, L Politano, M Moggio, L Chiveri, I Hausmanova-Petrusewicz, R Ricotti, S Vohanka, J Toman, D Toniolo .............................................................................................................................. . J Med Genet 2003;40:e132 (http://www.jmedgenet.com/cgi/content/full/40/12/e132) aminopathies represent a heterogeneous group of genetic Key points disorders characterised by mutations in the LMNA gene, L which encodes two lamins, A and C, by alternative splicing of the primary transcript. Lamins belong to the The aim of the work was to study the frequency of intermediate filament multigene family and form the nuclear mutations in the LMNA gene associated to the different lamina, a mesh-like structure adjacent to the nucleoplasmic cardiac and skeletal muscle phenotypes described and side of the inner nuclear membrane. They interact with that seem to form a group of overlapping entities with emerin, the proteins encoded by the gene for the X-linked (X marked clinical variability. EDMD) form of EDMD, with several nuclear envelope We collected 166 patients who could be divided into proteins and with chromatin. Despite their widespread four groups: