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Distal hereditary motor neuropathies: Mutation spectrum and genotype–phenotype correlation
European Journal of Neurology ( IF 4.5 ) Pub Date : 2020-12-28 , DOI: 10.1111/ene.14700
Marina Frasquet 1, 2, 3 , Ricard Rojas-García 3, 4, 5 , Herminia Argente-Escrig 2, 3 , Juan Francisco Vázquez-Costa 1, 2, 3, 6 , Nuria Muelas 1, 2, 3 , Juan Jesús Vílchez 2, 3 , Rafael Sivera 7 , Elvira Millet 8 , Marisa Barreiro 2 , Jordi Díaz-Manera 3, 4, 5 , Janina Turon-Sans 3, 4, 5 , Elena Cortés-Vicente 3, 4, 5 , Luis Querol 3, 4, 5 , Laura Ramírez-Jiménez 9 , Dolores Martínez-Rubio 10, 11 , Ana Sánchez-Monteagudo 10, 11 , Carmen Espinós 10, 11 , Teresa Sevilla 1, 2, 3, 6 , Vincenzo Lupo 10, 11
Affiliation  

Distal hereditary motor neuropathies (dHMNs) are a heterogeneous group of disorders characterized by degeneration of the motor component of peripheral nerves. Currently, only 15% to 32.5% of patients with dHMN are characterized genetically. Additionally, the prevalence of these genetic disorders is not well known. Recently, biallelic mutations in the sorbitol dehydrogenase gene (SORD) have been identified as a cause of dHMN, with an estimated frequency in undiagnosed cases of up to 10%.

中文翻译:

远端遗传性运动神经病:突变谱和基因型-表型相关性

远端遗传性运动神经病 (dHMNs) 是一组异质性疾病,其特征是周围神经运动成分的退化。目前,只有 15% 到 32.5% 的 dHMN 患者具有遗传特征。此外,这些遗传疾病的患病率并不为人所知。最近,山梨醇脱氢酶基因 ( SORD ) 中的双等位基因突变已被确定为 dHMN 的原因,估计在未确诊病例中的发生率高达 10%。
更新日期:2021-03-08
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