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Updated: Jun 24, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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新的功能丧失变体扩大了ABCC9相关的智力障碍和肌肉病综合征

Stephanie Efthymiou1, Marcello Scala1,2,3, Vini Nagaraj4

  • 1Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.

Brain : a journal of neurology
|January 13, 2024
PubMed
概括

在ABCC9基因中的功能丧失突变导致智力障碍和肌肉病综合征 (AIMS). 这项研究确定了新的变异,证实了保存的表型,并揭示了新的KATP通道功能障碍病理.

关键词:
ABCC9ABCC9ABCC9ABCC9ABCC9ABCC9ABCC9ABCC9ABCC9ABCC9ABCC9ABCC9ABCC9ABCC9ABCC9ABCC9ABCC9ABCC9ABCC9ABCC9ABCC9ABCC9ABCC9ABCC9ABCC9ABCC9ABCC9ABCC9ABCC9ABCC9ABCC9ABCC9ABCC9ABCC9ABCC9ABCC9ABCC9ABCC9ABCC9ABCC9ABCC9ABCC9ABCC9ABCC9ABCC9ABCC9ABCC9ABCC9ABCC9ABCC9ABCC9ABCC9ABCC9ABCC9ABCC9ABCC9ABCC9DBCC9DBCC9DBCC9DBCC9DBCC9DBCC9DBCC9D在KATP频道上播放.在SUR2中使用.神经发育障碍是一种神经发育障碍.

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