Application of the immunofluorescent technique for diagnosing muscular dystrophy / 中华神经科杂志

ABSTRACT

Objective To establish a specific detection technique in patients with Duchenne muscular dystrophy (DMD),Becker muscular dystrophy (BMD) and limb-girdle muscular dystrophy (LGMD). Methods Immunofluorescent technique was applied,and 4 monoclonal antibodies against dystrophin,?-sarcoglycan (?-SG) and ?-sarcoglycan (?-SG) were respectively used.Results Dystrophin was negative in 9 DMD patients,and partially absent in 4 BMD patients. In two LGMD patients,50DAG was diminished in one patient and 35DAG was diminished in the other. Therefore,the two patients were diagnosed as having LGMD2D and LGMD2C respectively. Conclusion Analysing gene product expressed on surface membrane of muscle fiber is helpful to diagnose and classify the DMD/BMD,and LGMD diseases by using immunofluorescent technique.