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Article

Phenotype Spectrum in VRK1 Pathogenic Variants.

Journal of clinical neuromuscular disease - 1 Jun 2026

Malek Elia Gebran, Biliciler Suur, Sheikh Kazim

Abstract excerpt

ABSTRACT: Vaccinia-Related-Kinase-1 (VRK1) gene pathogenic variants have been identified in patients presenting with a slowly progressive symmetric distal weakness with electrophysiologic findings predominantly suggestive of pure motor axonal neuropathy/neuronopathy. VRK1-related presentations exhibit a considerable phenotypic heterogeneity with a proportion of patients presenting with features suggestive of...

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Identifiers

PMID: 42226221
DOI: 10.1097/CND.0000000000000560

Genes

VRK1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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