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

T. Marcos, Ana; Martín‐Doncel, Elena; Morejón‐García, Patricia; Marcos‐Alcalde, Íñigo; Gómez‐Puertas, Paulino; Segura‐Puimedon, María; Armengol, Lluı́s; M. Navarro‐Pando, José; A. Lazo, Pedro

doi:10.1002/acn3.51050

Public

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

Published in Annals of Clinical and Translational Neurology • May 1, 2020

Authors:

Ana T. Marcos

Elena Martín‐Doncel

Patricia Morejón‐García

Abstract

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...

Subject

Spinal muscular atrophy

Cajal body

Mutant

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