[Recent studies on dilated cardiomyopathy caused by TTN mutations in children]

[近期关于儿童TTN基因突变引起的扩张型心肌病的研究]

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Abstract

The mutations of TTN gene that encodes titin are the most common mutation type among the genetic causes of dilated cardiomyopathy (DCM). This article reviews the worldwide studies on potential molecular pathogenesis (transcription, post-translational modification, etc.), clinical phenotypes, and gene therapies of pediatric DCM caused by TTN mutations, with the hope of providing a reference for the precision treatment of pediatric DCM caused by TTN mutations.

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