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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...

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Detalles Bibliográficos
Autores principales: Khatun, Nazima, Zaveri, Sahil, Salciccioli, Louis, John, Sabu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
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