Two pedigrees with arrhythmogenic right ventricular cardiomyopathy linked with R49H and F531C mutation in DSG2-Reference-Cited by-同舟云学术

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Two pedigrees with arrhythmogenic right ventricular cardiomyopathy linked with R49H and F531C mutation in DSG2

Published:2019-08-21 Issue:1 Volume:6 Page:
ISSN:2054-345X
Container-title:Human Genome Variation
language:en
Short-container-title:Hum Genome Var

Author:

Chen Xuepin,Peng Hui,Zheng Chenqing,Zhang Hongmei,Yan Chao,Ma Huihui,Dai Xiafei,Li Xiaoping

Funder

National Natural Science Foundation of China

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,Biochemistry

Link

http://www.nature.com/articles/s41439-019-0069-3.pdf

Reference20 articles.

1. Corrado, D. et al. Arrhythmogenic right ventricular cardiomyopathy/dysplasia: clinical impact of molecular genetic studies. Circulation 113, 1634–1637 (2006).

2. Basso, C. et al. Pathophysiology of arrhythmogenic cardiomyopathy. Nat. Rev. Cardiol. 9, 223–233 (2012).

3. Awad, M. M. et al. Mechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Nat. Clin. Pract. Cardiovasc. Med. 5, 258–267 (2008).

4. Corrado, D. et al. Arrhythmogenic cardiomyopathy. Circ. Res. 121, 784–802 (2017).

5. Rasmussen, T. B. et al. Mutated desmoglein-2 proteins are incorporated into desmosomes and exhibit dominant-negative effects in arrhythmogenic right ventricular cardiomyopathy. Hum. Mutat. 5, 697–705 (2013).

Cited by 5 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Case report: Additional variants induced sudden cardiac death among pediatric ACM with DSG2 homozygous mutant genotype: a report of three cases;Frontiers in Genetics;2024-08-26

2. Rare Variants Associated with Arrhythmogenic Cardiomyopathy: Reclassification Five Years Later;Journal of Personalized Medicine;2021-02-26

3. Familial Arrhythmogenic Cardiomyopathy: Clinical Determinants of Phenotype Discordance and the Impact of Endurance Sports;Journal of Clinical Medicine;2020-11-23

4. Propafenone-Induced QRS Widening in a Child With Arrhythmogenic Right Ventricular Cardiomyopathy: A Case Report and Literatures Review;Frontiers in Pediatrics;2020-10-30

5. Inflammation shapes pathogenesis of murine arrhythmogenic cardiomyopathy;Basic Research in Cardiology;2020-06-12

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