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Updated: Jun 18, 2025

In Vivo Modeling of the Morbid Human Genome using Danio rerio
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在CMS22患者的误解变异表明PREPL具有酶和非酶功能

Yenthe Monnens1, Anastasia Theodoropoulou2, Karen Rosier1

  • 1Laboratory for Biochemical Neuroendocrinology, Department of Human Genetics, KU Leuven, Leuven, Belgium.

JCI insight
|July 30, 2024
PubMed
概括

先天性肌痛综合征-22 (CMS22) 可能是由PREPL基因的错误变异引起的,而不仅仅是删除. 这些变异可能会影响蛋白质相互作用,而不是酶活性,影响线粒体功能.

关键词:
内分泌学 在内分泌学.遗传变异是一种遗传变异.遗传学 遗传学 是一个

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