Vanessa Todorow1,2, Stefan Hintze1, Benedikt Schoser1

  • 1Friedrich-Baur-Institute, Department of Neurology, LMU Klinikum, Ludwig-Maximilians-University Munich, 80336 Munich, Germany.

Biomedicines
|March 28, 2025
PubMed
概括

拼接因子的错误调节和错误拼接事件在1型肌性缩症 (DM1) 之间有所不同,面骨肌缩症 (FSHD) 和Emery-Dreifuss肌缩症 (EDMD). 这项分析区分了疾病特异性的剪接变化,用于潜在的生物标志物使用.

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