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Updated: Jun 29, 2025

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由于RTN2缺乏,导致自体逆向远端运动神经病变,下肢动

Reza Maroofian1, Payam Sarraf2,3, Thomas J O'Brien4,5

  • 1Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.

Brain : a journal of neurology
|March 25, 2024
PubMed
概括

新型同卵性RTN2变体会导致一种独特的带有性的远端遗传运动神经病变 (dHMN). 这一发现确定了dHMN的新遗传原因,并表明了这种罕见的神经疾病的潜在治疗点.

关键词:
dHMNN dHMNN dHMNN 在线遗传性性残残疾人遗传性残疾人神经退行症的神经退行症多性神经病症 多性神经病症.

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