Genotype-specific pathogenic effects in human dilated cardiomyopathy
نویسندگان
چکیده
منابع مشابه
Genotype‐specific pathogenic effects in human dilated cardiomyopathy
KEY POINTS Mutations in genes encoding cardiac troponin I (TNNI3) and cardiac troponin T (TNNT2) caused altered troponin protein stoichiometry in patients with dilated cardiomyopathy. TNNI3p.98trunc resulted in haploinsufficiency, increased Ca2+ -sensitivity and reduced length-dependent activation. TNNT2p.K217del caused increased passive tension. A mutation in the gene encoding Lamin A/C (LMNAp...
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Background Cardiovascular magnetic resonance (CMR) imaging is the gold standard imaging modality for characterization of dilated cardiomyopathy (DCM). We recently identified genetic variants that truncate the giant protein Titin (TTN) accounting for up to 25% of DCM cases: a discovery that will increase the utility of genetic testing and family screening in DCM. However, the clinical consequenc...
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Advances in cardiovascular imaging increasingly afford unique insights into heritable myocardial disease. Because the clinical presentation of genetic cardiomyopathies may range from nonspecific symptoms to sudden cardiac death, an accurate diagnosis has implications for individual patients as well as related family members. The initial consideration of genetic cardiomyopathy may occur in the i...
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ژورنال
عنوان ژورنال: The Journal of Physiology
سال: 2017
ISSN: 0022-3751
DOI: 10.1113/jp274145