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Vaccinia‐related kinase 1 (  VRK 1 ) mutations can cause motor phenotypes including axonal sensorimotor neuropathy, distal hereditary motor neuropathy ( dHMN ), spinal muscular atrophy, and amyotrophic lateral sclerosis. Here, we identify a novel homozygous   VRK 1  p.W375X mutation causing recessive  dHMN . The proband presented with juvenile onset of weakness in the distal lower extremities, slowly progressing to the distal upper limbs, with bilateral pes cavus and no upper motor or sensory neuron involvement. Nerve conduction studies showed a pure motor axonal neuropathy. Our findings extend the ethnic distribution of   VRK 1  mutations, indicating that these mutations should be included in genetic diagnostic testing for  dHMN .

A novel VRK1 mutation associated with recessive distal hereditary motor neuropathy