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Updated: Sep 17, 2025

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历史病原性拉米纳A/C创始变异的临床和代谢后果

L Y Wong1,2, T Torfs3,4, S J V Vanherle1

  • 1Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, the Netherlands.

Scientific reports
|July 3, 2025
PubMed
概括

一种新的LMNA基因变异在家庭中引起严重扩张性心肌病 (DCM),在晚年出现心脏功能障碍. 这种创始变异影响核结构和心肌细胞功能.

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