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Updated: Jul 17, 2025

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一个突变的氨酸受体 (T4709M) 的功能与先天性肌肉病相关

Zsuzsanna É Magyar1, Judit Hevesi2,3, Linda Groom4

  • 1Department of Physiology, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.

Scientific reports
|September 5, 2023
PubMed
概括

赖诺丁受体1 (RyR1) 通道中的T4706M突变通过改变通道功能导致肌肉衰弱. 一些RyR1通道成为构成性活跃,而另一些则显示活动减少,导致肌肉病变.

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