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Refaat, M.M., Lubitz, S.A., Makino, S., Islam, Z., Frangiskakis, J.M., Mehdi, H., et al. (2012) Genetic variation in the alternative splicing regulator RBM20 is associated with dilated cardiomyopathy. Heart Rhythm, 9, 390-396.


  • 标题: 扩张型心肌病与肌联蛋白靶基因突变的研究Study of DCM and the Titin Targrt Gene Mutations

    作者: 杜辉, 陈凤英

    关键字: 扩张型心肌病, 肌联蛋白, RNA结合蛋白20, 基因突变DCM, Titin, Rbm20, Gene, Mutations

    期刊名称: 《Advances in Clinical Medicine》, Vol.5 No.1, 2015-03-30

    摘要: 扩张型心肌病(Dilated Cardiomyopathy, DCM)是一种严重危害人们身体健康和生活质量的疾病,其发病隐匿,进展缓慢,初期临床症状不明显,早期诊断较为困难!患者一旦出现明显的临床症状,病情往往已进入不可逆阶段。因此,寻找出一种有效的早期诊断方法,以及尽早建立起一级预防机制显得极其重要!通过研究和探讨与扩张型心肌病相关的肌联蛋白(titin)及RNA结合蛋白20 (RBM20),探讨其突变序列位点,早期干预,能够为扩张型心肌病患者的早期诊断提供重要的依据,具有广阔的应用前景。DCM (Dilated Cardiomyopathy, DCM) is a kind of disease with the characteristics of onset hidden and slow progress, which plays serious damage to the people’s health and life quality. The early clinical symptom is not obvious, so early diagnosis is very difficult! Once somebody gets the obvious clinical symptoms, the disease always has entered the stage of irreversible. As a result, it is extremely important to look for a kind of effective method of early diagnosis to establish primary prevention mechanism quickly. Through the study and exploration of the DCM related titin and Rbm20, we can discuss the locus mutation sequence, do intervention early, to provide important basis in the early diagnosis of patients who have got DCM, has broad application prospects.