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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 Jayaraman2,3, Rocio Bengoechea4

  • 1Department of Neurology, Washington University School of Medicine, 4523 Clayton Avenue, Box 8111, Saint Louis, MO, 63110, USA. michio@wustl.edu.

Acta neuropathologica communications
|October 29, 2024
PubMed
概括

DNAJB4基因中的致病变体导致一种罕见的肌肉病,其特征是早期呼吸衰竭和脊柱硬. 这项研究确定了新的DNAJB4变体,并突出了基因型-表型相关性,表明J-域误解变体预测了更严重的疾病过程.

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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