中国KCNMA1相关疾病的表型和基因型

Qiuhong Wang1, Xiaojuan Tian1, Jie Deng1

  • 1Department of neurology, Beijing Children's Hospital, Capital Medical University, Beijing, 100045, China.

Seizure
|December 14, 2025
PubMed
概括

KCNMA1基因变异与和运动障碍有关. 跨膜领域的变异常常导致,而细胞内变异,特别是在RCK-2区域,与运动障碍有关.

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