慢性疼痛作为表现为dysferlinopathy的一个特征
Lucia Sanchez-Casado1, Teresinha Evangelista2, Juliette Nectoux3
1Service de neuromyologie, Institut de Myologie, Sorbonne Université, Hôpital Pitié-Salpêtrière, Paris, France.
Neuromuscular disorders : NMD
|January 11, 2025
概括
肌肉发育不良症是一种肌肉发育不良症,可以呈现出模仿纤维肌痛的扩散性疼痛. 这一案例突出显示了一种新的临床表现,扩大了已知的线障碍症的范围.
科学领域:
- 神经学 神经学
- 遗传学 是一个遗传学.
- 生物化学 生物化学
背景情况:
- 异林病是一种由异林基因 (DYSF) 突变引起的自体逆变性肌肉发育不良.
- 这些情况以临床异质性而闻名,具有不断变化的表型谱.
- 迪斯费林蛋白在肌肉膜修复中起着至关重要的作用.
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