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首页> 外文期刊>Heart rhythm: the official journal of the Heart Rhythm Society >Prevalence and significance of rare RYR2 variants in arrhythmogenic right ventricular cardiomyopathy/dysplasia: Results of a systematic screening
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Prevalence and significance of rare RYR2 variants in arrhythmogenic right ventricular cardiomyopathy/dysplasia: Results of a systematic screening

机译:心律失常右心肌病/发育不良中罕见的RYR2变体的患病率和意义:系统筛查的结果

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摘要

BACKGROUND Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a genetic disease predominantly caused by desmosomal gene mutations that account for only similar to 50% of cases. Ryanodine receptor 2 (RYR2) gene mutations usually cause catecholaminergic polymorphic ventricular tachycardia but have been associated with a peculiar phenotype named ARVC2.
机译:背景心律失常右心室心肌病/发育不良(ARVC/D)是一种遗传疾病,主要是由脱发基因突变引起的,仅占50%的病例。 ryanodine受体2(RYR2)基因突变通常会引起儿茶酚胺能多态性的心室心动过速,但与称为ARVC2的特殊表型有关。

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