Identification of two variants in AGRN and RPL3L genes in a patient with catecholaminergic polymorphic ventricular tachycardia suggesting new candidate disease genes and digenic inheritance
Clinical Case Reports(2021)
摘要
Catecholaminergic Polymorphic Ventricular Tachycardia is a
life-threatening disorder. The clinical diagnosis is challenging owing
to the absence of electrocardiogram and overt structural heart
abnormalities in the majority of patients. Approximately 35% of cases
remain without a genetic etiology. Here, we identified two genes as a
novel promising candidate for CPVT.
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关键词
AGRN gene,CPVT,known gene-novel gene association,RPL3L gene,whole exome sequencing
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