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.

Detalhes 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 documento: artigo
Estado:Versão publicada
Data de publicação:2020
País:España
Recursos:Consejo Superior de Investigaciones Científicas (CSIC)
Repositório:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/223113
Acesso em linha:http://hdl.handle.net/10261/223113
Access Level:Acceso aberto
Descrição
Resumo:[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.