Characterizes genetic features of VRK1-related axonal polyneuropathy in a Chinese cohort, suggesting significant implications for diagnosis.
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.
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