The phospholamban p.Arg14del founder mutation in Dutch patients with arrhythmogenic cardiomyopathy.
作者信息
van der Heijden J F, Hassink R J
机构信息
Department of Cardiology, University Medical Center Utrecht, Huispostnummer: E03.511, Heidelberglaan 100, P.O. Box 85500, 3508 GA, Utrecht, the Netherlands,
出版信息
Neth Heart J. 2013 Jun;21(6):284-5. doi: 10.1007/s12471-013-0413-z.
Abstract
摘要
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The phospholamban p.Arg14del founder mutation in Dutch patients with arrhythmogenic cardiomyopathy.荷兰致心律失常性心肌病患者中的磷蛋白b精氨酸14缺失奠基者突变。
Neth Heart J. 2013 Jun;21(6):284-5. doi: 10.1007/s12471-013-0413-z.
2
Recurrent and founder mutations in the Netherlands-Phospholamban p.Arg14del mutation causes arrhythmogenic cardiomyopathy.荷兰复发性和创始性突变——磷酸化肌球蛋白结合蛋白 p.Arg14del 突变导致心律失常性心肌病。
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Distinct molecular signature of phospholamban p.Arg14del arrhythmogenic cardiomyopathy.磷酸化酶脑肌磷酸酶结合蛋白 p.Arg14del 致心律失常性心肌病的独特分子特征。
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本文引用的文献
1
Recurrent and founder mutations in the Netherlands-Phospholamban p.Arg14del mutation causes arrhythmogenic cardiomyopathy.荷兰复发性和创始性突变——磷酸化肌球蛋白结合蛋白 p.Arg14del 突变导致心律失常性心肌病。
Neth Heart J. 2013 Jun;21(6):286-93. doi: 10.1007/s12471-013-0401-3.
2
Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy.磷酸化肌球蛋白结合蛋白 R14del 突变在诊断为扩张型心肌病或致心律失常性右室心肌病患者中的意义：支持致心律失常性心肌病概念的证据。
Eur J Heart Fail. 2012 Nov;14(11):1199-207. doi: 10.1093/eurjhf/hfs119. Epub 2012 Jul 20.
3
Sodium current deficit and arrhythmogenesis in a murine model of plakophilin-2 haploinsufficiency.钙黏着蛋白 plakophilin-2 杂合不足的小鼠模型中的钠电流不足和心律失常发生机制。
Cardiovasc Res. 2012 Sep 1;95(4):460-8. doi: 10.1093/cvr/cvs218. Epub 2012 Jul 3.
4
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA).心律协会（HRS）与欧洲心律协会（EHRA）合作制定的关于通道病和心肌病基因检测现状的专家共识声明。
Heart Rhythm. 2011 Aug;8(8):1308-39. doi: 10.1016/j.hrthm.2011.05.020.
5
Arrhythmogenic right ventricular dysplasia/cardiomyopathy: pathogenic desmosome mutations in index-patients predict outcome of family screening: Dutch arrhythmogenic right ventricular dysplasia/cardiomyopathy genotype-phenotype follow-up study.致心律失常性右室心肌病/扩张型心肌病：索引患者中的病理性桥粒突变可预测家族筛查的结果：荷兰致心律失常性右室心肌病/扩张型心肌病基因型-表型随访研究。
Circulation. 2011 Jun 14;123(23):2690-700. doi: 10.1161/CIRCULATIONAHA.110.988287. Epub 2011 May 23.
6
Recurrent and founder mutations in inherited cardiac diseases in the Netherlands.荷兰遗传性心脏病中的复发性突变和奠基者突变。
Neth Heart J. 2009 Nov;17(11):407-8. doi: 10.1007/BF03086292.
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A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy.一种用于诊断致心律失常性右室心肌病的新型检测方法。
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8
Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity.左优势型致心律失常性心肌病：一种未被充分认识的临床实体。
J Am Coll Cardiol. 2008 Dec 16;52(25):2175-87. doi: 10.1016/j.jacc.2008.09.019.
9
Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene.5型致心律失常性右室心肌病是一种由TMEM43基因错义突变引起的完全显性、致死性心律失常疾病。
Am J Hum Genet. 2008 Apr;82(4):809-21. doi: 10.1016/j.ajhg.2008.01.010. Epub 2008 Feb 28.
10
Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy.桥粒斑蛋白的新型突变导致致心律失常性左室心肌病。
Circulation. 2005 Aug 2;112(5):636-42. doi: 10.1161/CIRCULATIONAHA.104.532234.
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