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Updated: Jan 28, 2026

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德斯敏-p.L112Q 扰乱了纤维的形成,是与扩展性心肌病相关的可能致病变体

Alexander Lütkemeyer1,2, Sabrina Voß1,2, Jonas Reckmann1,2

  • 1Clinic for Thoracic and Cardiovascular Surgery, Erich and Hanna Klessmann Institute, Heart and Diabetes Center North Rhine Westphalia, Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany.

Journal of cardiovascular development and disease
|January 27, 2026
PubMed
概括

德斯敏 (DES) 基因的突变可能导致扩张性心肌病. 这项研究发现,DES-p.L112Q变体导致异常的desmin蛋白聚合,支持其被归类为致病性.

关键词:
心血管遗传学 心血管遗传学这里是Desmin的位置.这就是为什么我们说desmosomes.扩张性心肌病症 扩张性心肌病症中间纤维丝是中间纤维丝.突变是发生在突变中的突变.

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