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Updated: May 10, 2026

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病例报告:一个患有尼马林棒和增加糖原沉积的患者的新型ACTA1变异

Daniela Piga1, Martina Rimoldi2,3, Francesca Magri1

  • 1IRCCS Fondazione Cà Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy.

Frontiers in neurology
|March 19, 2024
PubMed
概括

先天性肌肉病是一种具有不同严重程度的遗传性肌肉疾病. 在一个患有严重症状的婴儿身上发现了一种新型ACTA1基因变异,扩大了对行为病变的知识.

关键词:
在ACTA1中,案例报告案例报告储存糖原的储存方式尼马林神经病变 (nemaline myopathy) 是一种神经病变.骨肌肉棒 骨肌肉棒是指骨肌肉棒.

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