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肌钙蛋白Ⅰ突变致肥厚型心肌病的发病机制 被引量：1

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摘要 肥厚型心肌病(HCM)是一种遗传性心肌疾病,其发病具有家族聚集倾向,目前已经发现至少编码10种肌小节约200个位点突变可以导致该疾病。由心脏肌钙蛋白(cTnⅠ)基因突变所致者约占家族性肥厚型心肌病发病的5%。现已发现的cTnI基因突变位点约有20个。本文综述cTnⅠ及其编码基因的结构、功能和致病基因型及表型之间关系,并从细胞和分子水平探讨其可能的发病机制。
作者 王俊宏 张寄南
机构地区 南京医科大学第一附属医院心血管病研究所
出处 《国际心血管病杂志》 2007年第4期274-276,共3页 International Journal of Cardiovascular Disease
关键词 肥厚型心肌病 肌钙蛋白Ⅰ 基因突变
分类号 R542.2 [医药卫生—心血管疾病]
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参考文献19

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二级参考文献6

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共引文献6

同被引文献33

  • 1赵航,舒先红.肥厚型心肌病预后评估的研究进展[J].心血管病学进展,2007,28(1):33-36. 被引量：6
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  • 6MUNCH J, AYDIN A, SULING A, et al. Orthostatic blood pressure test for risk stratification in patients with hypertrophic cardiomyopathy [J]. PLoS One,2015,10(6) :e0131044.
  • 7KATRITSIS D G, ZAREBA W, CAMM A J, et al. Non-sustained ven- tricular tachycardia [ J ]. J Am Coil Cardiol, 2012,60 ( 20 ) : 1993- 2004.
  • 8ARIS A, ARIEMISIA T, ANGELOS R, et al. Risk factors in hyper- trophic cardiomyopathy [ J ]. Hellenic J of Cardio1,2013,54 (4) :281 - 288.
  • 9BOSTAN C, SINAN U Y, CANBOLAT P, et al. Factors predicting long-term mortality in patients with hypertrophic cardiomyopathy [ J~. Echocardiography ,2014,31 ( 9 ) : 1056-1061.
  • 10TIAN T, WANG Y, SUN K, et al. Clinical profile and prognostic sig- nificance of atrial fibrillation in hypertrophic cardiomyopathy [ J ~. Cardiology,2013,126(4) :258-264.

引证文献1

二级引证文献2

国际心血管病杂志
2007年 第4期

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