PRKAG2糖原贮积病性心肌病：走出黑暗，重见光明。 - Suppr

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.

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

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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.

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.

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.

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.

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.

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.

[Inherited metabolic cardiomyopathies].[遗传性代谢性心肌病]

Presse Med. 2007 Mar;36 Spec No 1:1S48-54.

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.

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.

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.

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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.

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.

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

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