• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

A novel MYH7 mutation in a family with cardiomyopathy presenting with restrictive physiology and varying degrees of left ventricle hypertrophy.

作者信息

Yu Bi-lian, Xiang Rong, Hu Die, Peng Dao-quan

机构信息

Department of Cardiology, the Second Xiangya Hospital, Central South University, Changsha, Hunan, PR China.

Department of Cardiology, the Second Xiangya Hospital, Central South University, Changsha, Hunan, PR China Department of Cell Biology, School of Life Sciences, Central South University, Changsha, Hunan, PR China State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, PR China.

出版信息

Eur Heart J. 2015 Jan 14;36(3):178. doi: 10.1093/eurheartj/ehu435. Epub 2014 Nov 24.

DOI:10.1093/eurheartj/ehu435
PMID:25422285
Abstract
摘要

相似文献

1
A novel MYH7 mutation in a family with cardiomyopathy presenting with restrictive physiology and varying degrees of left ventricle hypertrophy.一个患有心肌病的家族中存在一种新型MYH7突变,该家族表现为限制性生理学特征和不同程度的左心室肥厚。
Eur Heart J. 2015 Jan 14;36(3):178. doi: 10.1093/eurheartj/ehu435. Epub 2014 Nov 24.
2
Whole Exome Sequencing Identified a 13 Base Pair Deletion-mutation in a Patient with Restrictive Cardiomyopathy and Left Ventricle Hypertrophy.全外显子组测序在一名患有限制性心肌病和左心室肥厚的患者中鉴定出一个13碱基对的缺失突变。
Ann Clin Lab Sci. 2019 Nov;49(6):838-840.
3
A de novo mutation of the beta cardiac myosin heavy chain gene in an infantile restrictive cardiomyopathy.一名患婴儿期限制性心肌病的患儿中β心脏肌球蛋白重链基因的新发突变
Congenit Heart Dis. 2008 Mar-Apr;3(2):138-43. doi: 10.1111/j.1747-0803.2008.00165.x.
4
Coexistence of Digenic Mutations in Both Thin (TPM1) and Thick (MYH7) Filaments of Sarcomeric Genes Leads to Severe Hypertrophic Cardiomyopathy in a South Indian FHCM.肌节基因的细肌丝(TPM1)和粗肌丝(MYH7)中双基因突存共存导致一名南印度家族性肥厚型心肌病患者出现严重肥厚型心肌病。
DNA Cell Biol. 2015 May;34(5):350-9. doi: 10.1089/dna.2014.2650. Epub 2015 Jan 21.
5
Cardiac beta-myosin heavy chain defects in two families with non-compaction cardiomyopathy: linking non-compaction to hypertrophic, restrictive, and dilated cardiomyopathies.两个患有心肌致密化不全心肌病家族的心脏β-肌球蛋白重链缺陷:将心肌致密化不全与肥厚型、限制型和扩张型心肌病联系起来
Eur Heart J. 2007 Nov;28(22):2732-7. doi: 10.1093/eurheartj/ehm429. Epub 2007 Oct 17.
6
Sudden death in an infant with angina, restrictive cardiomyopathy, and coronary artery bridging: an unusual phenotype for a β-myosin heavy chain (MYH7) sarcomeric protein mutation.一名患有心绞痛、限制性心肌病和冠状动脉桥接的婴儿猝死:β-肌球蛋白重链(MYH7)肌节蛋白突变的一种不寻常表型。
Circ Heart Fail. 2012 Nov;5(6):e92-3. doi: 10.1161/CIRCHEARTFAILURE.112.969303.
7
A p.R870H mutation in the beta-cardiac myosin heavy chain 7 gene causes familial hypertrophic cardiomyopathy in several members of an Indian family.β-心肌肌球蛋白重链7基因中的p.R870H突变在一个印度家庭的几名成员中导致家族性肥厚型心肌病。
Can J Cardiol. 2007 Aug;23(10):788-90. doi: 10.1016/s0828-282x(07)70828-0.
8
Exome sequencing identifies a novel MYH7 p.G407C mutation responsible for familial hypertrophic cardiomyopathy.外显子组测序鉴定出一种新型 MYH7 p.G407C 突变,该突变导致家族性肥厚型心肌病。
DNA Cell Biol. 2014 Oct;33(10):699-704. doi: 10.1089/dna.2014.2483. Epub 2014 Jun 25.
9
Gene symbol: MYH7.基因符号:MYH7。
Hum Genet. 2007 Feb;120(6):915.
10
A new missense mutation, p.Arg719Leu, of the beta-myosin heavy chain gene in a patient with familial hypertrophic cardiomyopathy.一名家族性肥厚型心肌病患者的β-肌球蛋白重链基因出现新的错义突变,即p.Arg719Leu。
Minerva Cardioangiol. 2017 Feb;65(1):96-102. doi: 10.23736/S0026-4725.16.04208-0.

引用本文的文献

1
A case report of MYH7 mutation-induced restrictive cardiomyopathy.MYH7基因突变所致限制型心肌病一例报告
Eur Heart J Case Rep. 2025 Apr 8;9(4):ytaf166. doi: 10.1093/ehjcr/ytaf166. eCollection 2025 Apr.
2
Pediatric restrictive cardiomyopathy: a case report.小儿限制型心肌病:病例报告。
J Int Med Res. 2023 Aug;51(8):3000605231188276. doi: 10.1177/03000605231188276.
3
MYH7 in cardiomyopathy and skeletal muscle myopathy.MYH7 在心肌病和骨骼肌肌病中的作用。
Mol Cell Biochem. 2024 Feb;479(2):393-417. doi: 10.1007/s11010-023-04735-x. Epub 2023 Apr 20.
4
Estrogen receptor beta maintains expression of KLF15 to prevent cardiac myocyte hypertrophy in female rodents.雌激素受体β维持 KLF15 的表达,以防止雌性啮齿动物心肌细胞肥大。
Mol Cell Endocrinol. 2018 Jul 15;470:240-250. doi: 10.1016/j.mce.2017.11.004. Epub 2017 Nov 7.