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Familial dilated cardiomyopathy associated with a novel heterozygous RYR2 early truncating variant.

作者信息

Costa Sarah, Medeiros-Domingo Argelia, Gasperetti Alessio, Breitenstein Alexander, Steffel Jan, Guidetti Federica, Flammer Andreas, Odening Katja, Ruschitzka Frank, Duru Firat, Saguner Ardan M

机构信息

Department of Cardiology, University Heart Center, Zurich, Switzerland.

Swiss Dnalysis, Dubendorf, Switzerland.

出版信息

Cardiol J. 2021;28(1):173-175. doi: 10.5603/CJ.a2020.0099. Epub 2020 Aug 4.

DOI:10.5603/CJ.a2020.0099
PMID:32748945
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8105062/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/87a3/8105062/c4fdd2155ceb/cardj-28-1-173f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/87a3/8105062/c4fdd2155ceb/cardj-28-1-173f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/87a3/8105062/c4fdd2155ceb/cardj-28-1-173f1.jpg

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本文引用的文献

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The structural basis of ryanodine receptor ion channel function.兰尼碱受体离子通道功能的结构基础。
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2
Dilated Cardiomyopathy: Genetic Determinants and Mechanisms.扩张型心肌病：遗传决定因素与机制
Circ Res. 2017 Sep 15;121(7):731-748. doi: 10.1161/CIRCRESAHA.116.309396.
3
Classification, Epidemiology, and Global Burden of Cardiomyopathies.心肌病的分类、流行病学和全球负担。
心肌细胞成熟障碍导致扩张型心肌病：病例报告及文献复习。
Medicina (Kaunas). 2023 Jun 16;59(6):1158. doi: 10.3390/medicina59061158.
4
Molecular, Subcellular, and Arrhythmogenic Mechanisms in Genetic RyR2 Disease.基因 RyR2 病的分子、亚细胞和心律失常机制。
Biomolecules. 2022 Jul 26;12(8):1030. doi: 10.3390/biom12081030.
5
Understanding the molecular basis of cardiomyopathy.了解心肌病的分子基础。
Am J Physiol Heart Circ Physiol. 2022 Feb 1;322(2):H181-H233. doi: 10.1152/ajpheart.00562.2021. Epub 2021 Nov 19.
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RyR2 Gain-of-Function and Not So Sudden Cardiac Death.兰尼碱受体2功能获得与非猝死性心脏骤停
Circ Res. 2021 Jul 23;129(3):417-419. doi: 10.1161/CIRCRESAHA.121.319651. Epub 2021 Jul 22.
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State of the Art Review on Genetics and Precision Medicine in Arrhythmogenic Cardiomyopathy.心律失常性心肌病的遗传学和精准医学的最新研究进展综述。
Int J Mol Sci. 2020 Sep 10;21(18):6615. doi: 10.3390/ijms21186615.
Circ Res. 2017 Sep 15;121(7):722-730. doi: 10.1161/CIRCRESAHA.117.309711.
4
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.序列变异解读的标准与指南：美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
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