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Updated: May 24, 2025

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婴儿TK2缺陷导致线粒体脑筋疲劳症与迁移的焦点发作

Luca Bergonzini1, Sara Carli1, Silvia Pelle1

  • 1Department of Medical and Surgical Sciences, Alma Mater Studiorum University of Bologna, Italy.

Neurology
|March 3, 2025
PubMed
概括

脱氧核酸基质增强疗法 (dC/dT) 稳定了肌肉疾病在一个婴儿与胺基酶2缺乏 (TK2d),但显示在大脑参与的有效性有限. 进一步的深度表型化对于在治疗前评估疾病严重程度至关重要.

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