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动力蛋白-2相关中央核肌病临床诊断学特点及文献回顾 被引量:1
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作者 刘新红 吴化民 +2 位作者 宁方波 刘运林 杨申 《中华临床医师杂志(电子版)》 CAS 2015年第13期23-26,共4页
目的探讨动力蛋白-2(DNM2)相关中央核肌病临床诊断学特征。方法回顾性分析2例经病理和基因学证实的DNM2相关中央核肌病患者临床表型、病理及基因学特征并回顾文献资料。结果 2例DNM2相关中央核肌病患者临床上都在婴幼儿期发病,以双下肢... 目的探讨动力蛋白-2(DNM2)相关中央核肌病临床诊断学特征。方法回顾性分析2例经病理和基因学证实的DNM2相关中央核肌病患者临床表型、病理及基因学特征并回顾文献资料。结果 2例DNM2相关中央核肌病患者临床上都在婴幼儿期发病,以双下肢无力为首发和主要症状,四肢肌力近端远端均受累,以远端为著。肌肉病理学上可见增多的中央核,肌质带轮辐状纤维,Ⅰ型纤维优势和萎缩。DNM2基因测序证实分别为exon11 c.1393C>T(R465W)和exon15c.1565G>A(R522H)突变。结论 DNM2相关中央核肌病是一种少见的先天性肌病,发病率低,具有早期发病,缓慢进展,以四肢肌无力为主要表现,单纯依据临床诊断困难,需结合肌肉病理学及分子遗传学特征综合判断。 展开更多
关键词 中央核肌病 常染色体显性遗传 动力蛋白-2 诊断学 DNM2
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Association between polymorphisms of prokineticin receptor(PKR1 rs4627609 and PKR2 rs6053283) and recurrent pregnancy loss 被引量:1
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作者 Yun-lei CAO Zhao-feng ZHANG +6 位作者 Jian WANG Mao-hua MIAO Jian-hua XU Yue-ping SHEN Ai-min CHEN Jing DU Wei YUAN 《Journal of Zhejiang University-Science B(Biomedicine & Biotechnology)》 SCIE CAS CSCD 2016年第3期218-224,共7页
Recurrent pregnancy loss (RPL) is a condition with complex etiologies, to which both genetic and envi- ronmental factors may contribute. During the last decade, studies indicated that the expression patterns of the ... Recurrent pregnancy loss (RPL) is a condition with complex etiologies, to which both genetic and envi- ronmental factors may contribute. During the last decade, studies indicated that the expression patterns of the pro- kineticin receptor (PKR1 and PKR2) are closely related to early pregnancy. However, there are few studies on the role of PKR1 and PKR2 in RPL. In this study, we purpose to investigate the association between polymorphisms of the prokineticin receptor (PKR1 rs4627609 and PKR2 rs6053283) and RPL on a group of 93 RPL cases and 169 healthy controls. Genotyping of the single nucleotide polymorphisms (SNPs) was performed using a Sequenom MassARRAY iPLEX system. The results revealed a significant association between PKR2 rs6053283 polymorphism and RPL (P=0.003), whereas no association was observed between PKR1 rs4627609 polymorphism and RPL (P=-0.929) in the Chinese Han population. 展开更多
关键词 Prokineticin receptor 1 (PKR1) PKR2 POLYMORPHISM Recurrent pregnancy loss
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