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[Research progress of PRKAG2 cardiac syndrome].

Zhonghua xin xue guan bing za zhi - 24 Aug 2024

Cheng W P, Song X W, Zhang B L

Abstract excerpt

PRKAG2心脏综合征是一种以心室预激、进行性传导系统疾病和心肌肥厚为主要临床表型的罕见的常染色体显性遗传病。其发病由编码5′腺苷一磷酸活化蛋白激酶的γ2调节亚基的PRKAG2基因突变引起。随着更多致病突变位点的发现以及研究方法的更新，PRKAG2心脏综合征的研究逐渐深入，该文对近年来PRKAG2心脏综合征发病机制和治疗方面的主要研究进展予以综述。.

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Identifiers

PMID: 39143794
DOI: 10.3760/cma.j.cn112148-20230916-00166

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