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Broadening the genetic spectrum of distal hereditary motor neuropathy
European Journal of Neurology ( IF 4.5 ) Pub Date : 2021-01-15 , DOI: 10.1111/ene.14734
Alexander M Rossor 1
Affiliation  

In this issue of the Journal, Frasquet et al. report on the genetic spectrum of a large cohort of patients with distal hereditary motor neuropathy (dHMN) from two large centres in Spain1. All patients underwent detailed clinical assessment by experts in neuromuscular disease and are likely to have an accurate diagnosis. As the centre in Valencia provides all neuromuscular services for a defined geographical area, these two factors have allowed the authors to calculate a population prevalence for dHMN.

中文翻译:

拓宽远端遗传性运动神经病的遗传谱

在本期杂志中,Frasquet等人。西班牙两个大型中心的一大群远端遗传性运动神经病 (dHMN) 患者的遗传谱报告1。所有患者都接受了神经肌肉疾病专家的详细临床评估,并可能得到准确的诊断。由于瓦伦西亚的中心为特定地理区域提供所有神经肌肉服务,这两个因素使作者能够计算 dHMN 的人群患病率。
更新日期:2021-01-16
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