期刊文献+

SEPN1基因突变所致扩张性心肌病1例并文献复习 被引量:1

下载PDF
导出
摘要 遗传因素是原发性心肌病主要的发病因素,随着分子遗传学技术的进步,越来越多的病因被发现。目前关于SEPN1基因突变所致扩张性心肌病少见报道。现就1例以扩张性心肌病为主要表现的婴儿SEPN1基因突变相关性扩张性心肌病进行研究,总结其临床表现与遗传学特点的关系。1临床资料患儿,女,3月龄,因"反复气促、发绀2个月"转入本院。
出处 《重庆医学》 CAS 2018年第7期1007-1008,共2页 Chongqing medicine
基金 教育部博士点-博导基金(20130171110048)
  • 相关文献

参考文献4

二级参考文献61

  • 1时惠平,于梅艳.心肌疾病的磁共振成像诊断[J].中华临床医师杂志(电子版),2011,5(23):6871-6875. 被引量:4
  • 2王虎,惠汝太.基因突变与扩张型心肌病[J].中华心血管病杂志,2006,34(3):193-195. 被引量:28
  • 3Maron BJ,Estes Na 3rd,Maron MS,et al.Primary prevention of sudden death as a novel treatment strategy in hypertrophic cardiomyopathy.Circulation,2003,107:2872-2875.
  • 4Cam FS,Guray M.Hypertrophic cardiomyopathy:pathological features and molecular pathogenesis.Anadolu Kardiyol Derg,2004,4:327-330.
  • 5Maron BJ,Spirito P,Roman MJ,et al.Prevalence of hypertrophic cardiomyopathy in a population-based sample of American Indians aged 51 to 77 years (the Strong Heart Study).Am J Cardiol,2004,93:1510-1514.
  • 6Jaenicke T,Diederich KW,Haas W,et al.The complete sequence of the human beta-myosin heavy chain gene and a comparative analysis of its product.Genomics,1990,8:194-206.
  • 7Marian AJ,Roberts R.Recent advances in the molecular genetics of hypertrophic cardiomyopathy.Circulation,1995,92:1336-1347.
  • 8Liew CC,Sole MJ,Yamauchi-Takihara K,et al.Complete sequence and organization of the human cardiac beta-myosin heavy chain gene.Nucleic Acids Res,1990,18:3647-3651.
  • 9Watkins H,Thierfelder L,Hwang DS,et al.Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations.J Clin Invest,1992,90:1666-1671.
  • 10Morner S,Richard P,Kazzam E,et al.Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden.J Mol Cell Cardiol,2003,35:841-849.

共引文献43

同被引文献11

引证文献1

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部