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A de novo TNNI3K variant aggravates the pathogenicity of DMD-associated early-onset cardiomyopathy: a case report

BackgroundDystrophin is a DMD coding protein that serves as a connector maintaining the structural formation and functional hemostasis of myofilaments, which regulate the contraction of cardiomyocytes. However, early-onset heart failure or cardiomyopathy is closely associated with adverse clinical o...

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Príomhchruthaitheoirí: Di Qie, Yang Zhai, Fan Yang, Yifei Li, Rong Xu
Formáid: Artigo
Teanga:Inglês
Foilsithe / Cruthaithe: Frontiers Media S.A. 2025-03-01
Sraith:Frontiers in Genetics
Ábhair:
Rochtain ar líne:https://www.frontiersin.org/articles/10.3389/fgene.2025.1525941/full
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