Nebulin

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  • 文章类型: Case Reports
    儿童和青少年人群的广泛性虚弱是由影响神经肌肉轴的许多疾病引起的。随着下一代测序(NGS)在取代更具侵入性的程序方面的高产量,也就是说,肌肉和神经活检,更多以前未诊断的肌肉疾病现在被标记为特定的致病性。一名16岁女孩被诊断患有线虫性肌病,但以前被误诊为先天性肌无力,并服用了不必要的药物。临床医生应该意识到影响肌肉的先天性疾病,并且在有血缘关系的情况下知道NGS在达到正确诊断方面的重要性。
    Generalized weakness in the pediatric and adolescent population is caused by many disorders that affect the neuromuscular axis. As next-generation sequencing (NGS) is becoming of high yield in replacing more invasive procedures, that is, muscle and nerve biopsy, more previously undiagnosed diseases of the muscles are now labeled with specific pathogenicity. A 16-year-old-girl diagnosed with nemaline myopathy but previously was misdiagnosed with congenital myasthenia and put-on unnecessary medications. Clinicians should be aware of congenital diseases that affect the muscles and know the importance of the NGS in reaching the correct diagnosis more so when there is a history of consanguinity.
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