A 36‐year‐old woman who presented with upper limb distal weakness since the age of 15 years, with gradual progression to the lower limbs, is reported. Hereditary motor neuropathy was initially suspected based on distal weakness and hyporeflexia; however, whole exome sequencing accidentally revealed a compound heterozygous variant in the GNE gene, and ultrasound revealed increased homogeneous echogenicity in the involved muscles, which is characteristic of myopathic changes. Muscle magnetic resonance imaging revealed fatty infiltration in all limb muscles, sparing the triceps brachii, vastus lateralis and vastus medialis. Muscle biopsy revealed intracytoplasmic rimmed vacuole, supporting the diagnosis of GNE myopathy.

中文翻译：

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模仿遗传性运动神经病的GNE肌病一例。

据报道，一名36岁的妇女自15岁起就出现上肢远端无力，并逐渐发展至下肢。最初基于远端无力和反射不足怀疑遗传性运动神经病。然而，整个外显子组测序偶然发现了GNE基因中的一个复合杂合变异体，而超声波显示出所累及的肌肉中均一的回声性增加，这是肌病性改变的特征。肌肉磁共振成像显示脂肪在所有肢体肌肉中浸润，保留了肱三头肌，外侧股外侧肌和内侧股内侧肌。肌肉活检显示胞浆内边缘空泡，支持诊断为GNE肌病。