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Novel mutations in beta-myosin heavy chain, actin and troponin-I genes associated with dilated cardiomyopathy in Indian population

机译:β-肌球蛋白重链,肌动蛋白和肌钙蛋白-I基因的新突变与印度人扩张型心肌病相关

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摘要

Dilated cardiomyopathy (DCM) represents a large subset of congestive heart failure cases with a risk of sudden cardiac death (Kamisago et al. 2000). It is a primary myocardial disease and genetically heterogeneous disorder, characterized by progressive systolic dysfunction due to cardiac chamber dilatation and inefficient myocardial contractility.The phenotype in idiopathic/primary DCM (IDCM) is characterized by cardiac muscle dysfunction mthe absence of secondary causes and conduction defects such as atrioventricular locks / valvular dysfunction / systemic / skeletal muscular disorders in ischemic/secondary DCM.
机译:扩张型心肌病(DCM)代表充血性心力衰竭病例的很大一部分,有心脏猝死的风险(Kamisago et al。2000)。它是一种原发性心肌病和遗传异质性疾病,其特征是由于心腔扩张引起的收缩期功能障碍和无效的心肌收缩力。特发性/原发性DCM(IDCM)的表型特征是在没有继发原因和传导缺陷的情况下心肌功能障碍例如缺血性/继发性DCM中的房室锁/瓣膜功能障碍/全身/骨骼肌疾病。

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