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A Rare Case of Coexisting Mutation in Desmin and Thioredoxin Reductase 2 Genes Causing Dilated Cardiomyopathy

Journal Title
Cureus
Keywords
desmin
 dilated cardiomyopathy (DCM)
 heart failure with reduced ejection fraction
 rare genetic mutation
 thioredoxin reductase 2
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2023-06-17
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Downstate College of Medicine
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cureus-0015-00000040560.pdf
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http://hdl.handle.net/20.500.12648/14697
Abstract
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-old female with a heterozygous mutation involving both DES and TXNRD-2 genes.
Citation
Khatun N, Zaveri S, Salciccioli L, John S. A Rare Case of Coexisting Mutation in Desmin and Thioredoxin Reductase 2 Genes Causing Dilated Cardiomyopathy. Cureus. 2023 Jun 17;15(6):e40560. doi: 10.7759/cureus.40560. PMID: 37465804; PMCID: PMC10351334.
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10.7759/cureus.40560
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