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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| Autori principali: | , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
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Frontiers Media S.A.
2025-03-01
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| Serie: | Frontiers in Genetics |
| Soggetti: | |
| Accesso online: | https://www.frontiersin.org/articles/10.3389/fgene.2025.1525941/full |
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