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VRK1 (Y213H) homozygous mutant impairs Cajal bodies in a hereditary case of distal motor neuropathy

BACKGROUND: Distal motor neuropathies with a genetic origin have a heterogeneous clinical presentation with overlapping features affecting distal nerves and including spinal muscular atrophies and amyotrophic lateral sclerosis. This indicates that their genetic background is heterogeneous. PATIENT A...

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Detalles Bibliográficos
Autores principales:	Marcos, Ana T., Martín‐Doncel, Elena, Morejón‐García, Patricia, Marcos‐Alcalde, Iñigo, Gómez‐Puertas, Paulino, Segura‐Puimedon, María, Armengol, Lluis, Navarro‐Pando, José M., Lazo, Pedro A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2020
Materias:	Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7261760/ https://www.ncbi.nlm.nih.gov/pubmed/32365420 http://dx.doi.org/10.1002/acn3.51050

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