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Updated: Sep 10, 2025

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一种与错误的UBQLN2变种相关的日本家族性性

Kazuki Watanabe1,2, Tatsuya Ema3, Kenji Shimizu4

  • 1Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.

Journal of human genetics
|August 21, 2025
PubMed
概括

在UBQLN2的遗传变异可能导致运动神经元疾病如肌缩侧面硬化症 (ALS). 这项研究发现了一种新的UBQLN2变种,该变种在一家人中导致早期性,强调需要长期对患者进行监测.

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