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Updated: Jun 25, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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分子机制将误解ACTG2突变与内脏肌肉病变联系起来

Rachel H Ceron1,2, Faviolla A Báez-Cruz1,3, Nicholas J Palmer1,3

  • 1Department of Physiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

Science advances
|May 31, 2024
PubMed
概括

在光滑肌肉马-动因 (ACTG2) 中的突变会导致内脏肌肉病变. 特定的ACTG2突变破坏了actin聚合和线程稳定性,导致与生化和结构变化相关的疾病严重程度.

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