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Updated: Jun 8, 2025

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在衰退性DNAJB4肌病症中的基因型-表型相关性

Michio Inoue1, Divya Jayaraman2, Rocio Bengoechea1

  • 1Washington University School of Medicine.

Research square
|November 1, 2024
PubMed
概括

DNAJB4基因中的致病变异会导致一种罕见的肌肉病,其特征是早期呼吸衰竭和刚性脊柱综合征. J-域误解变异与更严重的疾病有关,突出显示DNAJB4肌肉病变的基因型-表型相关性.

关键词:
这是一种Chaperonopathy病.在DNAJB4中,热冲击蛋白质是一种热冲击蛋白质.蛋白质聚合物肌病症 蛋白质聚合物肌病症呼吸系统衰竭 呼吸系统衰竭刚性脊柱综合征是什么意思

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