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Updated: Jun 6, 2025

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病例系列;NUS1删除会导致渐进的肌性,伴有无氧性

Raphaëlle Landais1, Jenna Strong2, Rhys H Thomas3

  • 1Faculty of Medical Sciences, Newcastle University, Newcastle-Upon-Tyne NE1 7RU, United Kingdom.

Seizure
|November 27, 2024
PubMed
概括

在NUS1基因中的遗传缺失可以导致渐进性肌性 (PME). 这种罕见的疾病还表现为智力障碍,动脉和发作,扩大已知的表型.

关键词:
发育迟缓的发展延迟是一种病.肌肉细胞结质 (myoclonus) 是一个细胞结质.删除 NUS1 的删除.

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