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- W2363175798 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." @default.
- W2363175798 created "2016-06-24" @default.
- W2363175798 creator A5072694040 @default.
- W2363175798 date "2013-01-01" @default.
- W2363175798 modified "2023-09-25" @default.
- W2363175798 title "Clinical,pathologic and genetic features of 17 infants with Becker muscular dystrophy." @default.
- W2363175798 hasPublicationYear "2013" @default.
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