Distal hereditary motor neuropathies: Mutation spectrum and genotype–phenotype correlation,European Journal of Neurology

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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

Neuromuscular Diseases Unit, Department of Neurology, Hospital Universitari i Politècnic La Fe, Valencia, Spain.
Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain.
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) Spain, Valencia, Spain.
Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
Universitat Autònoma de Barcelona, Barcelona, Spain.
Department of Medicine, Universitat de València, Valencia, Spain.
Department of Neurology, Hospital Francesc de Borja, Gandía, Spain.
Department of Clinical Neurophysiology, Hospital Universitari i Politècnic La Fe, Valencia, Spain.
Department of Genomics and Translational Genetics, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
Rare Diseases Joint Units, INCLIVA and IIS La Fe-CIPF, Valencia, Spain.

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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