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Updated: Jul 11, 2025

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双基ACBD6变体导致神经发育综合征,具有渐进和复杂的运动障碍

Rauan Kaiyrzhanov1, Aboulfazl Rad2,3, Sheng-Jia Lin4

  • 1Department of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK.

Brain : a journal of neurology
|November 11, 2023
PubMed
概括

在ACBD6的遗传变异导致严重的神经发育障碍,其特点是全球发育迟缓,运动障碍,如 dystonia,和大脑形. 这项研究确定ACBD6缺乏症是N-myristoylation缺陷和神经功能障碍的原因.

关键词:
在ACBD6中,它是ACBD6.通过N-米里斯托基化.过敏性过敏症 (ataxia) 是一种导致过敏性过敏的疾病.迪斯托尼亚 (Dystonia) 是一种精神疾病.神经退行症的神经退行症帕金森主义是帕金森主义.

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