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Updated: Jan 10, 2026

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案例报告:两位兄弟姐妹的复合异合体KCTD7变体呈现肌性和缺氧

Jingjing Song1, Wenlin Wu1,2, Yang Tian1

  • 1Department of Neurology, Liuzhou Hospital, Guangzhou Women and Children's Medical Center, Liuzhou, China.

Frontiers in neuroscience
|November 28, 2025
PubMed
概括

这项研究在患有渐进性肌细胞性 (PME) 的兄弟姐妹中发现了新的KCTD7基因变异. 研究结果表明,免疫疗法可能为KCTD7突变的PME患者提供部分益处.

关键词:
这种基因是KCTD7基因.亚达克西亚 亚达克西亚 亚达克西亚 亚达克西亚孩子们的孩子们的孩子们的孩子们.肌性是一种肌性.整体外因子测序的测序

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