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A novel VRK1 mutation associated with recessive distal hereditary motor neuropathy

Vaccinia‐related kinase 1 (VRK1) mutations can cause motor phenotypes including axonal sensorimotor neuropathy, distal hereditary motor neuropathy (dHMN), spinal muscular atrophy, and amyotrophic lateral sclerosis. Here, we identify a novel homozygous VRK1 p.W375X mutation causing recessive dHMN. Th...

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Detalles Bibliográficos
Autores principales:	Feng, Shu‐Yan, Li, Liu‐Yi, Feng, Shu‐Man, Zou, Zhang‐Yu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2018
Materias:	Case Study
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6389749/ https://www.ncbi.nlm.nih.gov/pubmed/30847374 http://dx.doi.org/10.1002/acn3.701

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