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Pediatr Investig. 2020 Mar 17;4(1):61-63. doi: 10.1002/ped4.12184. eCollection 2020 Mar.
2
Whole-exome sequencing reveals two variants in the gene in two Chinese patients with left ventricular non-compaction cardiomyopathy.全外显子组测序在两名中国左心室致密化不全心肌病患者中发现该基因的两个变异。
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Clinical and genetic insights into non-compaction: a meta-analysis and systematic review on 7598 individuals.非致密化心肌病的临床和遗传学研究进展：一项基于 7598 例个体的荟萃分析和系统综述
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Am J Cardiovasc Dis. 2021 Jun 15;11(3):398-403. eCollection 2021.
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Clinical genetics and outcome of left ventricular non-compaction cardiomyopathy.左心室心肌致密化不全的临床遗传学与转归。
Eur Heart J. 2017 Dec 7;38(46):3449-3460. doi: 10.1093/eurheartj/ehx545.
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Risks of Ventricular Arrhythmia and Heart Failure in Carriers of Variants.携带变异的患者发生室性心律失常和心力衰竭的风险
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A missense mutation in the RSRSP stretch of Rbm20 causes dilated cardiomyopathy and atrial fibrillation in mice.Rbm20 的 RSRSP 伸展区的错义突变导致小鼠扩张型心肌病和心房颤动。
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[Research progress on the expression of the gene in dilated cardiomyopathy].[扩张型心肌病中该基因表达的研究进展]
Zhongguo Dang Dai Er Ke Za Zhi. 2023 Oct 15;25(10):1084-1088. doi: 10.7499/j.issn.1008-8830.2306087.
2
A Novel Missense Variant in Actin Binding Domain of Is Associated With Left Ventricular Noncompaction.肌动蛋白结合结构域中的一种新型错义变异与左心室心肌致密化不全相关。
Front Cardiovasc Med. 2022 Apr 8;9:839862. doi: 10.3389/fcvm.2022.839862. eCollection 2022.
3
The Combined Human Genotype of Truncating and Mutations Is Associated with Severe and Early Onset of Dilated Cardiomyopathy.截断和突变的联合人类基因型与扩张型心肌病的严重和早发有关。
Genes (Basel). 2021 Jun 8;12(6):883. doi: 10.3390/genes12060883.
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Malignant Arrhythmogenic Role Associated with : A Comprehensive Interpretation Focused on a Personalized Approach.与恶性心律失常相关的作用：基于个性化方法的全面解读
J Pers Med. 2021 Feb 15;11(2):130. doi: 10.3390/jpm11020130.

本文引用的文献

1
Whole-exome sequencing reveals two variants in the gene in two Chinese patients with left ventricular non-compaction cardiomyopathy.全外显子组测序在两名中国左心室致密化不全心肌病患者中发现该基因的两个变异。
Pediatr Investig. 2020 Mar 17;4(1):11-16. doi: 10.1002/ped4.12183. eCollection 2020 Mar.
2
Regional Variation in RBM20 Causes a Highly Penetrant Arrhythmogenic Cardiomyopathy.RBM20 区域变异导致高度外显的心律失常性心肌病。
Circ Heart Fail. 2019 Mar;12(3):e005371. doi: 10.1161/CIRCHEARTFAILURE.118.005371.
3
Targeted panel sequencing in adult patients with left ventricular non-compaction reveals a large genetic heterogeneity.左室心肌致密化不全成年患者的靶向 panel 测序揭示了很大的遗传异质性。
Clin Genet. 2019 Mar;95(3):356-367. doi: 10.1111/cge.13484. Epub 2018 Dec 27.
4
Phosphorylation of the RSRSP stretch is critical for splicing regulation by RNA-Binding Motif Protein 20 (RBM20) through nuclear localization.RSRSP 伸展的磷酸化对于 RNA 结合基序蛋白 20（RBM20）通过核定位进行剪接调控至关重要。
Sci Rep. 2018 Jun 12;8(1):8970. doi: 10.1038/s41598-018-26624-w.
5
Genetics, Clinical Features, and Long-Term Outcome of Noncompaction Cardiomyopathy.非致密性心肌病的遗传学、临床特征和长期预后。
J Am Coll Cardiol. 2018 Feb 20;71(7):711-722. doi: 10.1016/j.jacc.2017.12.019.
6
High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation.晚期心肌病患者中遗传病例比例较高，包括一种新的纯合性桥粒斑菲素蛋白2基因突变。
PLoS One. 2017 Dec 18;12(12):e0189489. doi: 10.1371/journal.pone.0189489. eCollection 2017.
7
(Filamin-C): A New(er) Player in the Field of Genetic Cardiomyopathies.（细丝蛋白-C）：遗传性心肌病领域的一个新（或更新）参与者。
Circ Cardiovasc Genet. 2017 Dec;10(6). doi: 10.1161/CIRCGENETICS.117.001959.
8
Clinical genetics and outcome of left ventricular non-compaction cardiomyopathy.左心室心肌致密化不全的临床遗传学与转归。
Eur Heart J. 2017 Dec 7;38(46):3449-3460. doi: 10.1093/eurheartj/ehx545.
9
Novel Genetic Triggers and Genotype-Phenotype Correlations in Patients With Left Ventricular Noncompaction.左心室心肌致密化不全患者的新型遗传触发因素及基因型-表型相关性
Circ Cardiovasc Genet. 2017 Aug;10(4). doi: 10.1161/CIRCGENETICS.117.001763.
10
Left Ventricular Noncompaction: Anatomical Phenotype or Distinct Cardiomyopathy?左心室心肌致密化不全：解剖学表型还是独特的心肌病？
J Am Coll Cardiol. 2016 Nov 15;68(20):2157-2165. doi: 10.1016/j.jacc.2016.08.054.

mutations in left ventricular non-compaction cardiomyopathy.

作者信息

Gaertner Anna, Klauke Bärbel, Brodehl Andreas, Milting Hendrik

机构信息

Heart and Diabetes Center NRW University Hospital of the Ruhr-University Bochum, Clinic of Thoracic and Cardiovascular Surgery, Erich and Hanna Klessmann Institute for Cardiovascular Research and Development Georgstrasse 11 D-32545 Bad Oeynhausen Germany.

出版信息

Pediatr Investig. 2020 Mar 17;4(1):61-63. doi: 10.1002/ped4.12184. eCollection 2020 Mar.

DOI:10.1002/ped4.12184
PMID:32851345
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7331358/
Abstract
摘要