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Updated: Jun 18, 2025

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在青春期发作的肌肉病变中占主导地位的止损HNRNPA1变体

Johnnie Turner1, Christine C Bruels1, Audrey L Daugherty1

  • 1Greg Marzolf Jr. Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, Minnesota, USA.

Muscle & nerve
|July 29, 2024
PubMed
概括

两个患有青少年发病肌肉病变的个体被发现在HNRNPA1基因中具有致病性止损变异. 这些发现扩大了已知的HNRNPA1相关神经肌肉疾病的范围.

关键词:
在HNRNPA1中.青少年发作的肌肉病变.有边框的真空孔.停止损失变体的停止损失变体.整个exome测序的测序

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