Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2009. For permissions please email: journals.permissions@oxfordjournals.org.
The role of Lamin A/C mutations in Danish patients with idiopathic dilated cardiomyopathy
1 Department of Cardiology, Rigshospitalet, Copenhagen University Hospital, Blegdamsvej 9, 2100 Copenhagen O, Denmark
2 Department of Clinical Biochemistry and Immunology, Statens Serum Institut, Copenhagen, Denmark
3 Department of Pathology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark
4 Department of Cardiology, Gentofte Hospital, University of Copenhagen, Copenhagen, Denmark
* Corresponding author. Tel: +45 3268 3529, Fax: +45 35452549, Email: dvega@gmx.net
Received April 29, 2009; Revised July 22, 2009; Accepted August 26, 2009
| The first 10% of the full text of this article appears below. |
| Background |
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Idiopathic dilated cardiomyopathy is characterized primarily by left ventricular dilatation and impaired function. More than 25 genes have been shown to be associated with IDC1,2; however, with the exception of the Lamin A/C (LMNA) gene, each of these genes accounts for <2% of cases. Idiopathic dilated cardiomyopathy caused by LMNA mutations is often accompanied by conduction disorders, cardiac arrhythmias, and/or discrete muscle disorders.3,4 The LMNA gene consists of 12 exons and encodes the intermediate filament proteins Lamin A and C, which maintain the structural integrity of the nuclear envelope and organize chromatin within the nucleus, thereby influencing DNA transcription.5–7
| Aim |
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To examine a Danish IDC cohort for mutations in the LMNA gene, to assess the extent to which the mutation contributes to the disease
| Methods |
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Subjects
Molecular genetic studies
| Results |
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| Discussion |
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| Funding |
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