Article
In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients.
Journal of medical genetics - 1 Aug 2005
Sylvius N, Bilinska Z T, Veinot J P, Fidzianska A, Bolongo P M, Poon S, McKeown P, Davies R A, Chan K-L, Tang A S L, Dyack S, Grzybowski J, Ruzyllo W, McBride H, Tesson F
Abstract excerpt
CONTEXT: Lamin A/C (LMNA) gene variations have been reported in more than one third of genotyped families with dilated cardiomyopathy (DCM). However, the relationship between LMNA mutation and the development of DCM is poorly understood. METHODS AND RESULTS: We found that end stage DCM patients carrying LMNA mutations displayed either dramatic ultrastructural changes of the cardiomyocyte nucleus (D192G) or...
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