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在一个患有呼吸衰竭的移民儿童身上出现了新的LMNA突变

John Chukwuma Martin-Agba1, Elohor Omoefe Okoro1, Owora Amadi1

  • 1Emergency Department, Royal Manchester Children's Hospital, Manchester, UK.

BMJ case reports
|April 22, 2025
PubMed
概括

一个患有未诊断的肌肉缩症的孩子患有呼吸衰竭. 基因检测发现了一种致病性LMNA变体,证实了Emery-Dreifuss肌肉发育不良 (EDMD). 早期诊断对于管理心脏和肌肉并发症至关重要.

关键词:
肌肉疾病是一种肌肉疾病.神经遗传学 神经遗传学神经肌肉疾病是一种神经肌肉疾病.

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