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Article

VRK1 variants in two Portuguese unrelated patients with childhood-onset motor neuron disease.

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 May 2020

Silva Daniela Pimenta, Soeiro E Sá Mariana, Silveira Fernando, Pinto Susana, Gromicho Marta, Sousa Ana Berta, Leão Miguel, De Carvalho Mamede

Abstract excerpt

VRK1 encodes a serine/protein kinase possibly involved in pathways related to amyotrophic lateral sclerosis (ALS) pathogenesis. Pathogenic variants in VRK1 have been related to different phenotypes. We describe the clinical phenotype of two unrelated Portuguese patients with different VRK1 variants. Both patients presented a bilateral distal weakness in lower limbs beginning in childhood slowly progressing to...

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Identifiers

PMID: 32242460
DOI: 10.1080/21678421.2020.1746343

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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