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Updated: Jun 21, 2025

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面骨骨缩症:分子基础和治疗机会

Tessa Arends1, Danielle C Hamm1, Silvère van der Maarel2

  • 1Division of Human Biology, Fred Hutchinson Cancer Center, Seattle, Washington 98109, USA.

Cold Spring Harbor perspectives in biology
|July 15, 2024
PubMed
概括

面骨肌肉发育不良 (FSHD) 是由于肌肉中双同源盒蛋白4 (DUX4) 基因的错误表达引起的. 异常的DUX4激活会破坏肌肉程序,导致肌肉逐渐衰弱,并导致新的治疗策略.

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