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Updated: Jan 10, 2026

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GOSR2突变的基因型和表型谱:临床和病理生理学的见解

Sjoukje S Polet1, Elisabeth Z Siegal2, Sabine A Fuchs2

  • 1Expertise Centre for Movement Disorders, Department of Neurology, University Medical Centre Groningen, University of Groningen, Groningen, the Netherlands.

Journal of inherited metabolic disease
|November 20, 2025
PubMed
概括

北海渐进性肌细胞性 (NS-PME) 是一种罕见的神经疾病,由GOSR2基因突变引起. 本综述扩大了对GOSR2突变,像和这样的表型以及潜在的治疗标的理解.

关键词:
这就是GOSR2的原因.它们是SNARE蛋白质.听力损失 听力损失是什么肌肉发育不良 肌肉发育不良 肌肉发育不良渐进性的肌肉细胞衰.渐进的肌肉细胞发作.

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