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Identification of a new missense mutation at Arg403, a CpG mutation hotspot, in exon 13 of the beta-myosin heavy chain gene in hypertrophic cardiomyopathy.

作者信息

Moolman J C, Brink P A, Corfield V A

机构信息

University of Stellenbosch, Department of Medical Physiology and Biochemistry, Tygerberg, South Africa.

出版信息

Hum Mol Genet. 1993 Oct;2(10):1731-2. doi: 10.1093/hmg/2.10.1731.

DOI:10.1093/hmg/2.10.1731
PMID:8268932
Abstract
摘要

相似文献

1
Identification of a new missense mutation at Arg403, a CpG mutation hotspot, in exon 13 of the beta-myosin heavy chain gene in hypertrophic cardiomyopathy.
Hum Mol Genet. 1993 Oct;2(10):1731-2. doi: 10.1093/hmg/2.10.1731.
2
Lack of evidence of exon 13 mutations in the beta cardiac myosin heavy chain gene with familial hypertrophic cardiomyopathy in Japan.在日本，家族性肥厚型心肌病患者的β-心肌肌球蛋白重链基因外显子13突变缺乏证据。
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3
Novel missense mutation in cardiac beta myosin heavy chain gene found in a Japanese patient with hypertrophic cardiomyopathy.
Biochem Biophys Res Commun. 1992 Oct 15;188(1):379-87. doi: 10.1016/0006-291x(92)92396-f.
4
Hypertrophic cardiomyopathy: failure to demonstrate mutations in exon 13 of the cardiac beta myosin heavy-chain gene.肥厚型心肌病：未能在心脏β肌球蛋白重链基因第13外显子中证实存在突变。
Basic Res Cardiol. 1992 Mar-Apr;87(2):106-12. doi: 10.1007/BF00801958.
5
Expression of a missense mutation in the messenger RNA for beta-myosin heavy chain in myocardial tissue in hypertrophic cardiomyopathy.肥厚型心肌病心肌组织中β-肌球蛋白重链信使核糖核酸错义突变的表达
J Clin Invest. 1992 Jul;90(1):271-7. doi: 10.1172/JCI115848.
6
A new missense mutation, Arg719Gln, in the beta-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy.家族性肥厚型心肌病患者β-心脏重链肌球蛋白基因中的一种新错义突变，即Arg719Gln。
Hum Mol Genet. 1994 Jun;3(6):1025-6. doi: 10.1093/hmg/3.6.1025.
7
Sudden cardiac death in hypertrophic cardiomyopathy. Variability in phenotypic expression of beta-myosin heavy chain mutations.肥厚型心肌病中的心脏性猝死。β-肌球蛋白重链突变表型表达的变异性。
Eur Heart J. 1995 Mar;16(3):368-76. doi: 10.1093/oxfordjournals.eurheartj.a060920.
8
Preclinical diagnosis of familial hypertrophic cardiomyopathy by genetic analysis of blood lymphocytes.通过血液淋巴细胞的基因分析对家族性肥厚型心肌病进行临床前诊断。
N Engl J Med. 1991 Dec 19;325(25):1753-60. doi: 10.1056/NEJM199112193252501.
9
Identification of a mutation in the beta cardiac myosin heavy chain gene in a family with hypertrophic cardiomyopathy.肥厚型心肌病家族中β-心肌肌球蛋白重链基因突变的鉴定。
Br Heart J. 1993 Feb;69(2):136-41. doi: 10.1136/hrt.69.2.136.
10
Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy.β-肌球蛋白重链基因中的错义突变导致肥厚型心肌病中的中央核病。
Proc Natl Acad Sci U S A. 1993 May 1;90(9):3993-7. doi: 10.1073/pnas.90.9.3993.

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Identification and genetic analysis of rare variants in myosin family genes in 412 Han Chinese congenital heart disease patients.在 412 名汉族先天性心脏病患者中鉴定肌球蛋白家族基因中的罕见变异，并进行遗传分析。
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Clinical features, spectrum of causal genetic mutations and outcome of hypertrophic cardiomyopathy in South Africans.
南非肥厚型心肌病的临床特征、致病基因突变谱及预后
Cardiovasc J Afr. 2016 May/Jun;27(3):152-158. doi: 10.5830/CVJA-2015-075.
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Cryo-EM structure of a human cytoplasmic actomyosin complex at near-atomic resolution.Cryo-EM 结构解析近原子分辨率的人细胞质肌球蛋白复合物
Nature. 2016 Jun 30;534(7609):724-8. doi: 10.1038/nature18295. Epub 2016 Jun 20.
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Sarcomeric proteins and familial hypertrophic cardiomyopathy: linking mutations in structural proteins to complex cardiovascular phenotypes.肌节蛋白与家族性肥厚型心肌病：将结构蛋白突变与复杂的心血管表型联系起来。
Heart Fail Rev. 2005 Sep;10(3):237-48. doi: 10.1007/s10741-005-5253-5.
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The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events.两个南非亚群体中导致肥厚型心肌病的突变起源：独立事件和奠基者事件的独特概况。
Am J Hum Genet. 1999 Nov;65(5):1308-20. doi: 10.1086/302623.
7
Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure.肥厚型心肌病合并晚期充血性心力衰竭中线粒体DNA与β-肌球蛋白重链突变共存。
Heart. 1998 Dec;80(6):548-58. doi: 10.1136/hrt.80.6.548.
8
Identification of a new missense mutation in MyBP-C associated with hypertrophic cardiomyopathy.与肥厚型心肌病相关的肌球蛋白结合蛋白C新错义突变的鉴定。
J Med Genet. 1998 Mar;35(3):253-4. doi: 10.1136/jmg.35.3.253.
9
The in vitro motility activity of beta-cardiac myosin depends on the nature of the beta-myosin heavy chain gene mutation in hypertrophic cardiomyopathy.β-心脏肌球蛋白的体外运动活性取决于肥厚型心肌病中β-肌球蛋白重链基因突变的性质。
J Muscle Res Cell Motil. 1997 Jun;18(3):275-83. doi: 10.1023/a:1018613907574.
10
The cardiac myosin heavy chain Arg-403-->Gln mutation that causes hypertrophic cardiomyopathy does not affect the actin- or ATP-binding capacities of two size-limited recombinant myosin heavy chain fragments.导致肥厚型心肌病的心肌肌球蛋白重链Arg-403→Gln突变并不影响两个大小受限的重组肌球蛋白重链片段的肌动蛋白结合或ATP结合能力。
Biochem J. 1995 Mar 1;306 ( Pt 2)(Pt 2):345-51. doi: 10.1042/bj3060345.