Biallelic VRK1 variants are linked to a range of neurogenic disorders, including Charcot-Marie-Tooth and related disease (CMTR), motor neuron diseases, and spinal muscular atrophy (SMA). This study aimed to characterize the genetic and clinical features of VRK1-related peripheral neuropathy in a Chinese cohort with axonal CMTR.
Xu et al. (Tue,) studied this question.