Mutations in the GNE gene have been so far described as predominantly associated with distal lower‐limb myopathies. Recent reports describe mutations in this gene in patients with peripheral neuropathy and motor neuron disease.

中文翻译：

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与GNE突变相关的运动性轴索神经病

迄今为止，GNE基因的突变主要与远端下肢肌病有关。最近的报道描述了患有周围神经病和运动神经元疾病的患者中该基因的突变。