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A Rare Case of Coexisting Mutation in Desmin and Thioredoxin Reductase 2 Genes Causing Dilated Cardiomyopathy
Desmin (DES) maintains the overall structure of cardiomyocytes and cytoskeletal organization within striated muscle cells. Mitochondrial thioredoxin reductase 2 (TXNRD-2) is essential for mitochondrial oxygen radical scavenging. We describe a rare case of dilated cardiomyopathy (DCM) in an 18-year-o...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10351334/ https://www.ncbi.nlm.nih.gov/pubmed/37465804 http://dx.doi.org/10.7759/cureus.40560 |