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中文Childhood-Onset Nemaline Myopathy
Alias:
Mild Nemaline Myopathy
Nemaline Myopathy, Childhood Onset
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儿童期起病的尼曼型肌病，也称为轻度尼曼型肌病，与尼曼型肌病5a和尼曼型肌病有关。与儿童期起病的尼曼型肌病有关的重要基因是ACTA1（肌动蛋白α1，骨骼肌），其相关通路/超通路包括心脏传导和平滑肌收缩。相关表型为肌病和EMG：肌病异常
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MALACARDS
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MGI
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