Objectives: The objective is to investigate the clinical and genotypic characteristics of Charcot-Marie-Tooth disease, caused by HK1 gene mutation. Methods: The detailed medical history of the child was collected and the clinical symptoms were summarized. The genomic DNA was extracted from the 2ml of peripheral blood of child and their parents, and the whole exome sequencing was performed, and the related literatures were reviewed. Results: A 7-year-old girl with unstable walking for 7 months, left claudication, obvious valgus of left foot, unable to squate , unable to jump on one foot, grade IV of muscle strength of lower extremity and slight limitation of dorsal extension of left foot. Electromyography showed multiple peripheral neurogenic lesions (motor and sensory nerve demyelination with axonal damage, more severe in lower limbs than in upper limbs). Whole exome sequencing and PCR verification indicated that the patient had a homozygous deletion in exon 4 of HK1 gene, and the variation site was located in the range of chr10:71048499-71048526, which had not been reported before, and the associated disease was peroneal muscular atrophy type 4G. Conclusion: This study expands
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