肌动蛋白和硫氧还蛋白还原酶2基因共存突变导致扩张型心肌病的罕见病例
A Rare Case of Coexisting Mutation in Desmin and Thioredoxin Reductase 2 Genes Causing Dilated Cardiomyopathy.
作者信息
Khatun Nazima, Zaveri Sahil, Salciccioli Louis, John Sabu
机构信息
Internal Medicine, State University of New York Downstate Medical Center, Brooklyn, USA.
Cardiovascular Disease, State University of New York Downstate Medical Center, Brooklyn, USA.
出版信息
Cureus. 2023 Jun 17;15(6):e40560. doi: 10.7759/cureus.40560. eCollection 2023 Jun.
Desmin () maintains the overall structure of cardiomyocytes and cytoskeletal organization within striated muscle cells. Mitochondrial thioredoxin reductase 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 and genes.
结蛋白（）维持心肌细胞的整体结构以及横纹肌细胞内的细胞骨架组织。线粒体硫氧还蛋白还原酶2（）对于清除线粒体氧自由基至关重要。我们描述了一名18岁女性患扩张型心肌病（DCM）的罕见病例，该患者同时存在涉及和基因的杂合突变。
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