您当前的位置：
首页 >
文章列表页 >
A case report of hereditary myopathy with early respiratory failure caused by new point mutations of TTN gene and literature review
Medical Journal of Chinese People′s Liberation Army   Vol. 49, Issue 6, Pages: 651-655(2024)
Clinical Research | 更新时间：2024-08-14
|

    • A case report of hereditary myopathy with early respiratory failure caused by new point mutations of TTN gene and literature review

    • “最新研究揭示遗传性肌病伴早期呼吸衰竭(HMERF)的临床特征和基因突变，为诊断和治疗提供新见解。研究发现，HMERF患者多表现为四肢无力和呼吸困难，肌肉MRI显示特定脂肪浸润，且TTN基因突变是主要遗传标记。本病例中，患者携带TTN基因的两个新突变位点，为HMERF的遗传学研究增添新视角。”

    • DOI：10.11855/j.issn.0577-7402.0606.2023.1122    

      CLC： R562.25

    • Published：28 June 2024，

      Received：24 April 2023，

      Accepted：15 August 2023

    扫 描 看 全 文

  • Xiong Ming-Xiu,Zhang Jing.A case report of hereditary myopathy with early respiratory failure caused by new point mutations of TTN gene and literature review[J].Medical Journal of Chinese People′s Liberation Army,2024,49(06):651-655. DOI： 10.11855/j.issn.0577-7402.0606.2023.1122.

  •  
  •  

0

Views

0

下载量

0

CSCD

0

CNKI被引量

>
Alert me when the article has been cited
提交
Outline
No Sections

Related Articles

No data

Related Author

No data

Related Institution

No data
0