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in Diverse Cohorts and Identification of Diverse Phenotypes Associated With Single Genes Sadiya S. Khan, MD, MSc; Elizabeth M. McNally, MD, PhD Premature truncations in the TTN gene, referred to as TTNtv ...
Background/IntroductionTruncating variants in TTN -encoded titin (TTNtvs) underlie ∼25% of familial dilated cardiomyopathy (DCM) cases. In addition, TTNtvs are over-represented in alcoholic ...
D, Baars HF, Asselbergs FW. Truncating titin ( TTN ) variants in chemotherapy - induced cardiomyopathy . J Cardiac Fail 2017; 23: 476– 479. Google Scholar CrossRef Search ADS 12 Verdonschot JAJ ...
muscular dystrophy 2G (AR) TTN AD, AR HCM, RCM, ARVC Most frequent, early onset myopathy, peripartum cardiomyopathy , truncated variants with rhythm disorders, and limb-girdle muscular dystrophy 2J (AR) VCL ...
(AHCM - Yamaguchi syndrome) is a rare variant of hypertrophic cardiomyopathy , with electrocardiographic (ECG) changes and symptoms that may mimic an acute coronary syndrome (ACS). Case presentation: A 64 ...
7.1.1.4. Coronary anomalies 53 7.1.2. Idiopathic premature ventricular complexes/ventricular tachycardia and premature ventricular complex- induced cardiomyopathy 54 7.1.2.1. Idiopathic premature ...
hormone TTN Titin TTR Transthyretin UK United Kingdom US United States VAD Ventricular assist device Val-HeFT Valsartan Heart Failure Trial (trial) VEGF Vascular endothelial growth factor VERTIS-CV ...
-related. Genes causing myopathies (10) and mitochondrial diseases (5) were also commonly represented. The most frequent variants involved RYR1 (13), CAPN3 (12), DMD and DYSF (10 each), TTN (9), and COL6A3 ...
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