Familial restrictive cardiomyopathy: A novel troponin mutation
نویسندگان
چکیده
منابع مشابه
Severe familial left ventricular non-compaction cardiomyopathy due to a novel troponin T (TNNT2) mutation.
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). ...
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ژورنال
عنوان ژورنال: Indian Heart Journal
سال: 2017
ISSN: 0019-4832
DOI: 10.1016/j.ihj.2017.09.107