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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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| Publicado no: | Ann Clin Transl Neurol |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6389749/ https://ncbi.nlm.nih.gov/pubmed/30847374 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.701 |
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