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临床,病理和遗传特征的GNE肌肉病变:一个单一中心的观察研究

Jinliang Deng^1,2,3, Ning Wang^1,2,3, Yuhao Wu⁴

¹Department of Neurology, the Second Hospital of Hebei Medical University, Shijiazhuang, Hebei, 050000, China.

BMC musculoskeletal disorders

|November 14, 2025

概括

罕见的遗传性疾病GNE肌病,呈现出远端肌肉软弱. 这项研究确定了五种新的GNE基因变异,扩大了这种疾病的已知的突变谱.

科学领域:

神经学神经学
遗传学遗传学是一种遗传学.
罕见疾病罕见疾病

背景情况:

基因内核肌病是一种自体递归遗传肌病,影响酸生物合成.
关键特征包括远距离肌肉疲弱,四头肌强度保持,以及肌肉纤维的边缘真空.

研究的目的:

分析GNE肌病患者的临床和遗传特征.
扩大对GNE基因突变谱的理解.

主要方法:

六名在2017年至2024年期间被诊断为GNE肌病患者的回顾性临床分析.
组织病理学检查肌肉纤维异常.
对GNE基因进行遗传分析.

主要成果:

所有患者都表现出远端下肢软弱;五人表现出边缘真空孔.
发现了不常见的表现,比如蜂鸟的标志和呼吸系统功能障碍.
确定了五种新的GNE基因变异 (p.G564V,p.A626G,p.H312fs,p.K416M,p.A325V),其中三名患者患有p.D207V热点变异.

结论:

临床和组织病理学发现强调了疾病的特色和异质性.
鉴定了五种新型变异,大大扩大了GNE肌病的已知突变谱.

关键词:

远距离肌肉的弱点偏远肌肉的弱点在GNE肌病症.带边的真空孔 (Rimmed vacuoles) 是一个带边的真空孔.

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