To investigate the electrophysiological characteristics and pathological changes of Chinese Han CMTX1 Patients with GJB1 point mutations, and to analyze the relationship between pathological type and neurophysiology. Methods: Thirty-five patients from 12 families were sequenced CMTX1 patients with GJB1 point mutations which analyzed for electrophysiological evaluation. Four patients from four different families were subjected to sural nerve biopsy and analyzed by electron microscopy. Results: There were 35 cases of CMTX1 patients with GJB1 point mutations, and the amplitude of CMAP was decreased, which was significantly lower than that of MNCV. Electron microscopic examination of neurological biopsy in 4 cases showed that numbers of myelinated nerve fibers decreased，more cluster formations, axonal neuropathy. Conclusion: Electrophysiological finding support primary axonal neuropathy. in CMTX1 with GJB1 mutations. Pathological findings are axonal neuropathy accompanied by demyelinating lesions, mainly for axonal neuropathy. Electrophysiological and pathological analysis results are consistent.