• 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

心肌病的分子遗传学方面

Molecular genetic aspects of cardiomyopathy.

作者信息

Towbin J A

机构信息

Department of Pediatric Cardiology, Phoebe Willingham Muzzy Pediatric Molecular Cardiology Laboratory, Baylor College of Medicine, Houston, Texas.

出版信息

Biochem Med Metab Biol. 1993 Jun;49(3):285-320. doi: 10.1006/bmmb.1993.1032.

DOI:10.1006/bmmb.1993.1032
PMID:8347375
Abstract

Cardiomyopathies are a major cause of mortality and morbidity and this spectrum of disorders tops the list of diseases leading to cardiac transplantation. While significant gains have been made during the past decade clinically, knowledge of the molecular aspects of these disorders has taken longer to advance. During the past 5 years, however, molecular genetic information on a variety of primary cardiomyopathies, such as familial hypertrophic cardiomyopathy and X-linked dilated cardiomyopathy, has been obtained. Other primary and secondary myocardial diseases are now under study with advances occurring more regularly. The purpose of this review is to outline the major advances thus far described for some primary and secondary cardiomyopathies, as well as detailing the slower progress seen for others.

摘要

心肌病是导致死亡和发病的主要原因,这类疾病在需要心脏移植的疾病中位居榜首。尽管在过去十年临床方面已取得显著进展,但对这些疾病分子层面的了解进展较为缓慢。然而,在过去5年中,已获得了多种原发性心肌病的分子遗传学信息,如家族性肥厚型心肌病和X连锁扩张型心肌病。现在其他原发性和继发性心肌疾病也在研究中,进展更为频繁。本综述的目的是概述迄今为止一些原发性和继发性心肌病已描述的主要进展,并详述其他一些疾病进展较慢的情况。

相似文献

1
Molecular genetic aspects of cardiomyopathy.心肌病的分子遗传学方面
Biochem Med Metab Biol. 1993 Jun;49(3):285-320. doi: 10.1006/bmmb.1993.1032.
2
Molecular genetics of familial cardiomyopathies.家族性心肌病的分子遗传学
Adv Genet. 1997;35:285-324. doi: 10.1016/s0065-2660(08)60453-8.
3
[Hereditary cardiomyopathies: a review. Mutation of structural proteins a common cause of hereditary cardiomyopathy].[遗传性心肌病:综述。结构蛋白突变是遗传性心肌病的常见病因]
Lakartidningen. 2005;102(11):845-7, 850-3.
4
Genetic basis of inherited cardiomyopathies.遗传性心肌病的遗传基础。
Curr Opin Cardiol. 1995 May;10(3):312-21. doi: 10.1097/00001573-199505000-00013.
5
Hereditary heart disease: pathophysiology, clinical presentation, and animal models of HCM, RCM, and DCM associated with mutations in cardiac myosin light chains.遗传性心脏病:心肌肌球蛋白轻链突变相关的肥厚型心肌病、限制型心肌病和扩张型心肌病的病理生理学、临床表现和动物模型。
Pflugers Arch. 2019 May;471(5):683-699. doi: 10.1007/s00424-019-02257-4. Epub 2019 Jan 31.
6
[Etiology and classification of cardiomyopathies].[心肌病的病因及分类]
Nihon Naika Gakkai Zasshi. 1993 Feb 10;82(2):172-7.
7
Mutations in Troponin that cause HCM, DCM AND RCM: what can we learn about thin filament function?肌钙蛋白基因突变导致的 HCM、DCM 和 RCM:我们能从细肌丝功能学到什么?
J Mol Cell Cardiol. 2010 May;48(5):882-92. doi: 10.1016/j.yjmcc.2009.10.031. Epub 2009 Nov 12.
8
Cardiomyopathies and specific heart muscle diseases. Definitions, terminology, classifications and new and old approaches.心肌病与特定心肌疾病。定义、术语、分类以及新旧方法。
Postgrad Med J. 1992;68 Suppl 1:S3-6.
9
Genetics of neonatal cardiomyopathy.新生儿心肌病的遗传学
Curr Opin Cardiol. 1999 May;14(3):250-62. doi: 10.1097/00001573-199905000-00010.
10
Recent advances in the etiology, diagnosis, and treatment of myocarditis and cardiomyopathies in children.儿童心肌炎和心肌病的病因、诊断及治疗的最新进展
Curr Opin Pediatr. 1995 Oct;7(5):587-94. doi: 10.1097/00008480-199510000-00016.

引用本文的文献

1
Genetic abnormalities responsible for dilated cardiomyopathy.导致扩张型心肌病的基因异常。
Curr Cardiol Rep. 2000 Sep;2(5):475-80. doi: 10.1007/s11886-000-0063-9.
2
Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy.家族性和散发性扩张型心肌病中人类δ-肌聚糖基因的突变
J Clin Invest. 2000 Sep;106(5):655-62. doi: 10.1172/JCI9224.