PRKAG2 Cardiomyopathy.
作者信息
Sternick Eduardo Back
机构信息
Hospital Biocor, Rede D'Or São Luís, Nova Lima, MG - Brasil.
Hospital Governador Israel Pinheiro (IPSEMG), Belo Horizonte, MG - Brasil.
出版信息
Arq Bras Cardiol. 2022 Nov;119(5):689-690. doi: 10.36660/abc.20220694.
Abstract
摘要
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本文引用的文献
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Atrial Flutter in PRKAG2 Syndrome: Clinical and Electrophysiological Characteristics.PRKAG2综合征中的心房扑动：临床及电生理特征
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2
Miniseries 1-Part IV: How frequent are fasciculo-ventricular connections in the normal heart?迷你系列第一部第四部分：正常心脏中束室连接的频率有多高？
Europace. 2022 Mar 2;24(3):464-472. doi: 10.1093/europace/euab286.
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Glycogen storage cardiomyopathy (PRKAG2): diagnostic findings of standard and advanced echocardiography techniques.糖原贮积症心肌病（PRKAG2）：标准和先进超声心动图技术的诊断结果。
Eur Heart J Cardiovasc Imaging. 2021 Jun 22;22(7):800-807. doi: 10.1093/ehjci/jeaa176.
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Sudden death associated with a novel H401Q PRKAG2 mutation.
Europace. 2020 Aug 1;22(8):1278. doi: 10.1093/europace/euaa014.
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Distinct Subgroups in Hypertrophic Cardiomyopathy in the NHLBI HCM Registry.肥厚型心肌病 NHLBI 登记处的不同亚组。
J Am Coll Cardiol. 2019 Nov 12;74(19):2333-2345. doi: 10.1016/j.jacc.2019.08.1057.
6
Generation of patient-specific induced pluripotent stem cell lines from one patient with Jervell and Lange-Nielsen syndrome, one with type 1 long QT syndrome and two healthy relatives.从一名患有杰韦尔和朗格-尼尔森综合征的患者、一名患有1型长QT综合征的患者以及两名健康亲属身上生成患者特异性诱导多能干细胞系。
Stem Cell Res. 2018 Aug;31:174-180. doi: 10.1016/j.scr.2018.07.016. Epub 2018 Jul 25.
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Human γ2-AMPK Mutations.人类γ2-AMPK突变
Methods Mol Biol. 2018;1732:581-619. doi: 10.1007/978-1-4939-7598-3_37.
8
Mammalian γ2 AMPK regulates intrinsic heart rate.哺乳动物 γ2 AMPK 调节心脏固有心率。
Nat Commun. 2017 Nov 2;8(1):1258. doi: 10.1038/s41467-017-01342-5.
9
Wolff-Parkinson-White Syndrome with Ventricular Hypertrophy in a Brazilian Family.巴西一家患有心室肥厚的预激综合征
Am J Case Rep. 2017 Jul 10;18:766-776. doi: 10.12659/ajcr.904613.
10
Integrative Analysis of PRKAG2 Cardiomyopathy iPS and Microtissue Models Identifies AMPK as a Regulator of Metabolism, Survival, and Fibrosis.PRKAG2心肌病诱导多能干细胞和微组织模型的综合分析确定AMPK为代谢、存活和纤维化的调节因子。
Cell Rep. 2016 Dec 20;17(12):3292-3304. doi: 10.1016/j.celrep.2016.11.066.
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