Abstract: Objective　To explore the clinical characteristics, types, and distribution of gene mutation in Duchenne muscular dystrophy (DMD). Method　The clinical and gene testing data of DMD in 30 children from August 2015 to April 2017 were retrospectively analyzed. Results　30 cases of DMD precursor were all male, and the median age at the onset was 4 years (0.17~9.5 years), and the median age at diagnosis was 5.2 years (0.25~10 years). Among them, 4 cases (13.3%) had family history, and 7 cases (23.3%) had been misdiagnosed. All the children had insidious onset and markedly elevated creatine kinase (18.6~230.0 times the upper limit of normal). Electromyography was performed in 9 cases, suggesting myogenic damage. Muscle biopsy was performed in one case, and the pathological changes were consistent with DMD. DMD gene was detected in all 30 cases, and the rate of abnormal detection was 100%. Gene deletion mutations were found in 17 cases (56.7%), point mutations in 9 cases (30%), and duplications in 4 cases (13.3%). Deletion mutations were most common in exons 48, 49, and 50. The point mutations in 5 cases have not been reported in literature. Duplications were seen in large fragment of exon, including 7~19 exons. DMD gene detection was also performed in 49 family members. Among them, 1 grandfather, 1 elder brother and 3 younger brothers had the same results as propositus who were confirmed DMD. Furthermore, 21 family members carried the same mutation gene as the propositus, including 19 mothers and 2 sisters. Conclusion　For the male children with unexplained significantly elevation of muscle enzymes, clinicians should be highly vigilant about possibility of DMD,  and electromyography, muscle biopsy and gene diagnosis should be detected early.