在对免疫调节疗法有反应的10岁患者中,ACOX1功能的变化
Corinna Filippi1, Sara Brunetti2, Massimo Plumari3
1Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
American journal of medical genetics. Part A
|June 26, 2024
概括
米切尔综合征是一种罕见的遗传疾病,由ACOX1基因变异引起,可以有效治疗. 早期诊断和治疗,包括静脉注射免疫球蛋白,导致一名年轻患者显著康复.
科学领域:
- 遗传学 是一个遗传学.
- 神经学 神经学
- 代谢障碍 代谢障碍 代谢障碍
背景情况:
- 米切尔综合征是一种罕见的渐进性疾病,由乙烯基-CoA氧化酶1 (ACOX1) 基因中的异合体功能增益变体引起.
- 其特点是偶发性脱髓化,感官多神经病变和听力损失,以前仅记录了八例病例.
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