Article
A novel lamin A/C mutation in a family with dilated cardiomyopathy, prominent conduction system disease, and need for permanent pacemaker implantation.
American heart journal - 1 Dec 2002
Hershberger Ray E, Hanson Emily L, Jakobs Petra M, Keegan Hugh, Coates Kelly, Bousman Sylvia, Litt Michael
Abstract excerpt
BACKGROUND: The LMNA gene, which encodes the nuclear envelope protein lamin A/C, is thought to be the most common of 8 autosomal disease genes implicated in familial dilated cardiomyopathy (FDC). Each family reported to date has a unique mutation and variable degrees of cardiac conduction system, dilated cardiomyopathy, or skeletal muscle disease. METHODS AND RESULTS: Coding regions of the LMNA gene were screened...
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