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Severe familial left ventricular non-compaction cardiomyopathy due to a novel troponin T (TNNT2) mutation.
- Source :
-
Cardiovascular Research . Jun2010, Vol. 86 Issue 3, p452-460. 9p. 1 Color Photograph, 2 Charts, 4 Graphs. - Publication Year :
- 2010
-
Abstract
- Aims: Left ventricular non-compaction (LVNC) is caused by mutations in multiple genes. It is still unclear whether LVNC is the primary determinant of cardiomyopathy or rather a secondary phenomenon with intrinsic cardiomyocyte dysfunction being the actual cause of the disease. Here, we describe a family with LVNC due to a novel missense mutation, pE96K, in the cardiac troponin T gene (TNNT2). [ABSTRACT FROM PUBLISHER]
Details
- Language :
- English
- ISSN :
- 00086363
- Volume :
- 86
- Issue :
- 3
- Database :
- Academic Search Index
- Journal :
- Cardiovascular Research
- Publication Type :
- Academic Journal
- Accession number :
- 50640563
- Full Text :
- https://doi.org/10.1093/cvr/cvq009