Recent studies on dilated cardiomyopathy caused by TTN mutations in children
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1.Department of Cardiology, Hebei Children's Hospital/Hebei Provincial Key Laboratory of Pediatric Cardiovascular Disease, Shijiazhuang 050031, China

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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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郑奎,娄美娜.TTN基因突变致儿童扩张型心肌病的研究进展[J].中国当代儿科杂志英文版,2023,(2):217-222

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History
  • Received:August 26,2022
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  • Online: October 27,2023
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