• 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

PRKAG2 Glycogen Storage Disease Cardiomyopathy: Out of the Darkness and Into the Light.

作者信息

Maron Barry J, Maron Martin S

机构信息

Hypertrophic Cardiomyopathy Center and Research Institute, Division of Cardiology, Tufts Medical Center, Boston, Massachusetts.

Hypertrophic Cardiomyopathy Center and Research Institute, Division of Cardiology, Tufts Medical Center, Boston, Massachusetts.

出版信息

J Am Coll Cardiol. 2020 Jul 14;76(2):198-200. doi: 10.1016/j.jacc.2020.05.054.

DOI:10.1016/j.jacc.2020.05.054
PMID:32646570
Abstract
摘要

相似文献

1
PRKAG2 Glycogen Storage Disease Cardiomyopathy: Out of the Darkness and Into the Light.PRKAG2糖原贮积病性心肌病：走出黑暗，重见光明。
J Am Coll Cardiol. 2020 Jul 14;76(2):198-200. doi: 10.1016/j.jacc.2020.05.054.
2
Glycogen storage diseases presenting as hypertrophic cardiomyopathy.表现为肥厚型心肌病的糖原贮积病。
N Engl J Med. 2005 Jan 27;352(4):362-72. doi: 10.1056/NEJMoa033349.
3
Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency.致命性先天性心脏糖原贮积病由AMP活化蛋白激酶（PRKAG2）γ2亚基的复发性激活R531Q突变引起，而非磷酸化酶激酶缺乏所致。
Am J Hum Genet. 2005 Jun;76(6):1034-49. doi: 10.1086/430840. Epub 2005 May 2.
4
Transgenic mice overexpressing mutant PRKAG2 define the cause of Wolff-Parkinson-White syndrome in glycogen storage cardiomyopathy.过表达突变型PRKAG2的转基因小鼠确定了糖原贮积性心肌病中预激综合征的病因。
Circulation. 2003 Jun 10;107(22):2850-6. doi: 10.1161/01.CIR.0000075270.13497.2B. Epub 2003 Jun 2.
5
Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy.组成型激活的AMP激酶突变导致类似肥厚型心肌病的糖原贮积病。
J Clin Invest. 2002 Feb;109(3):357-62. doi: 10.1172/JCI14571.
6
A new mutation in PRKAG2 gene causing hypertrophic cardiomyopathy with conduction system disease and muscular glycogenosis.PRKAG2基因中的一种新突变导致肥厚型心肌病伴传导系统疾病和肌肉糖原贮积症。
Neuromuscul Disord. 2006 Mar;16(3):178-82. doi: 10.1016/j.nmd.2005.12.004. Epub 2006 Feb 17.
7
[Inherited metabolic cardiomyopathies].[遗传性代谢性心肌病]
Presse Med. 2007 Mar;36 Spec No 1:1S48-54.
8
Increased alpha2 subunit-associated AMPK activity and PRKAG2 cardiomyopathy.α2亚基相关的AMPK活性增加与PRKAG2心肌病。
Circulation. 2005 Nov 15;112(20):3140-8. doi: 10.1161/CIRCULATIONAHA.105.550806. Epub 2005 Nov 7.
9
Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for a patient presenting with a PRKAG2 mutation.阿糖苷酶α酶替代疗法作为治疗携带PRKAG2突变患者的一种治疗方法。
Mol Genet Metab. 2017 Jan-Feb;120(1-2):96-100. doi: 10.1016/j.ymgme.2016.09.006. Epub 2016 Sep 28.
10
High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations: comment.PRKAG2突变所致心脏糖原贮积症患者心律失常和心肌并发症的高患病率：评论
Europace. 2018 Aug 1;20(8):1389. doi: 10.1093/europace/eux238.

引用本文的文献

1
The Genetic Factors Influencing Cardiomyopathies and Heart Failure across the Allele Frequency Spectrum.影响整个等位基因频率谱的心肌病和心力衰竭的遗传因素。
J Cardiovasc Transl Res. 2024 Oct;17(5):1119-1139. doi: 10.1007/s12265-024-10520-y. Epub 2024 May 21.
2
Controversial molecular functions of CBS versus non-CBS domain variants of PRKAG2 in arrhythmia and cardiomyopathy: A case report and literature review.PRKAG2 非 CBS 结构域变异与 CBS 结构域变异在心律失常和心肌病中争议性的分子功能：病例报告和文献复习。
Mol Genet Genomic Med. 2022 Jul;10(7):e1962. doi: 10.1002/mgg3.1962. Epub 2022 May 19.