Article
Genetic and ultrastructural studies in dilated cardiomyopathy patients: a large deletion in the lamin A/C gene is associated with cardiomyocyte nuclear envelope disruption.
Basic research in cardiology - 1 May 2010
Gupta Pallavi, Bilinska Zofia T, Sylvius Nicolas, Boudreau Emilie, Veinot John P, Labib Sarah, Bolongo Pierrette M, Hamza Akil, Jackson Tracy, Ploski Rafal, Walski Michal, Grzybowski Jacek, Walczak Ewa, Religa Grzegorz, Fidzianska Anna, Tesson Frédérique
Abstract excerpt
Major nuclear envelope abnormalities, such as disruption and/or presence of intranuclear organelles, have rarely been described in cardiomyocytes from dilated cardiomyopathy (DCM) patients. In this study, we screened a series of 25 unrelated DCM patient samples for (a) cardiomyocyte nuclear abnormalities and (b) mutations in LMNA and TMPO as they are two DCM-causing genes that encode proteins involved in...
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