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导致SPG91的反复发生的SPTAN1突变的表型和分子特征

Shih-Chun Lan1, Ming-Der Perng2,3, Yung-Yee Chang4,5

  • 1School of Medicine, National Taiwan University College of Medicine, Taipei, Taiwan.

Molecular biology reports
|May 21, 2025
PubMed
概括

一种特定的SPTAN1基因突变 (p.Arg19Trp) 导致遗传性性 91 (SPG91),导致性和多神经病变. 这一发现加深了对与频谱相关的神经系统疾病的理解.

关键词:
遗传性性残残疾人遗传性残疾人膜周期性骨架 膜周期性骨架蛋白质 - 蛋白质相互作用在SPG91中,SPG91是SPG91中的一个.频谱异质四聚合物在αII-光谱中.

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