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.

Detalles Bibliográficos
Autores: Marcos, Ana T., Martín-Doncel, Elena, Morejón-García, Patricia, Marcos-Alcalde, Íñigo, Gómez-Puertas, Paulino, Segura‐Puimedon, María, Armengol, Lluís, Navarro‐Pando, José M., Lazo, Pedro A.
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2020
País:España
Institución:Consejo Superior de Investigaciones Científicas (CSIC)
Repositorio:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/223113
Acceso en línea:http://hdl.handle.net/10261/223113
Access Level:acceso abierto
Descripción
Sumario:[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.