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Adult-Onset Spinal Muscular Atrophy due to Mutations in the VRK1 Gene

OBJECTIVE: To expand our knowledge of the range of clinical phenotypes associated with vaccinia-related kinase 1 (VRK1) gene mutations. METHODS: We present clinical and molecular data of 2 individuals with slowly progressive weakness and a clinical syndrome consistent with adult-onset spinal muscula...

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Detalles Bibliográficos
Autores principales: Sung, Angela, Moretti, Paolo, Shaibani, Aziz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8220962/
https://www.ncbi.nlm.nih.gov/pubmed/34169149
http://dx.doi.org/10.1212/NXG.0000000000000599