Abstract:Objective To study the clinical,pathological and genetic features in infants with Becker muscular dystrophy (BMD),with the aim of increasing the possibility of early diagnosis. Methods The clinical data of 17 infants' who were definitely diagnosed with BMD,based on clinical manifestations,serum creatine kinase,AST,ALT,DMD genetic testing and the results of skeletal muscle histochemical and immunohistochemical studies,were analyzed retrospectively. Results All of the infants with BMD showed no or only slight clinical manifestations;serum CK,AST and ALT levels were increased significantly in the infant BMD,and there was good correlation between CK levels with AST and ALT,correlation coefficient being (r = 0.892,P<0.01) and (r = 0.819,P<0.01)respectively;DMD genetic testing results of non frameshift deletion mutation occurred in 15 cases,accounting for 88%;Ranging in size of muscle fibers was different,necrosis and regeneration of muscle fiber distribution were spotty,and fat and connective tissue were with mild hyperplasia;anti dystrophin-C,N,R antibody stained weakly;positive or negative fibers were of patchy distribution. Conclusion Elevated serum CK and transaminase are important biochemical marker for diagnosis of infant BMD,and DMD genetic testing and dystrophin immune histochemical examination are an important means of diagnosis of infant BMD.