A 71-nucleotide deletion in the periaxin gene in an Italian patient with late-onset slowly progressive demyelinating CMT.,European Journal of Neurology

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A 71-nucleotide deletion in the periaxin gene in an Italian patient with late-onset slowly progressive demyelinating CMT.
European Journal of Neurology ( IF 4.5 ) Pub Date : 2020-05-27 , DOI: 10.1111/ene.14362
L Citrigno ₁ , S Zoccolella ₂ , P Lastella ₃ , I L Simone ₄ , M Muglia ₁

Affiliation

Charcot‐Marie‐Tooth disease (CMT) constitutes a group of heterogeneous hereditary motor and sensor neuropathies. Mutations in the periaxin (PRX) gene cause CMT4F with an autosomal recessive early‐onset demyelinating neuropathy and are extremely rare in a non‐Romani white population.

中文翻译：

一名意大利患者，迟发性缓慢进行性脱髓鞘性CMT，其periaxin基因中有71个核苷酸的缺失。

Charcot-Marie-Tooth病（CMT）构成了一组异质性遗传性运动和感觉神经病。Periaxin（PRX）基因中的突变会导致CMT4F伴常染色体隐性遗传性早发性脱髓鞘性神经病，在非罗马尼亚白人人群中极为罕见。

更新日期：2020-05-27

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