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Updated: Jun 29, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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麻克病原体变异的严重程度是由它们破坏的蛋白质域预测的

Benjamin T Cocanougher1, Samuel W Liu1, Ludmila Francescatto2

  • 1Department of Pediatrics, Duke University, Durham, NC, USA; Division of Medical Genetics, Duke University, Durham, NC, USA.

HGG advances
|April 3, 2024
PubMed
概括

在MUSK基因中功能丧失的变异会导致先天性肌痛综合征 (CMS) 和胎儿动症. 这项研究详细介绍了一名患有复合异合体MUSK缺失的患者,探索基因型-表型相关性和MuSK蛋白质结构.

关键词:
遗传性肌痛综合征 (CMS) 是一种先天性肌痛综合征.特定领域的基因型-表型相关性.胎儿无动态变形序列 (FADS) 是指在Ig1领域.马斯克基因 马斯克基因MuSK 蛋白质结构的结构神经肌肉结节 (NMJ) 是一个神经肌肉结节.精准医学是一门精准的医学.皮里多斯提格胺是什么作为β2-上腺素受体的激动剂.

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