A Rare Case of Coexisting Mutation in Desmin and Thioredoxin Reductase 2 Genes Causing Dilated Cardiomyopathy
نویسندگان
چکیده
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 dilated cardiomyopathy (DCM) in an 18-year-old female with heterozygous mutation involving both DES TXNRD-2 genes.
منابع مشابه
Desmin mutation responsible for idiopathic dilated cardiomyopathy.
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ژورنال
عنوان ژورنال: Cureus
سال: 2023
ISSN: ['2168-8184']
DOI: https://doi.org/10.7759/cureus.40560