Changes of dystrophin expression in muscle of patients with DMD and its relevance to clinical pathology

Objective To identify expression of dystrophin in muscle fibers from 36 DMD patients and compared the expresion level with their clinical profiles and muscle pathological changes.Methods In addition to routing histological and histochenmical studies,expression of dystrophin in muscle fibers was observed by immunohistochemical reaction to anti-DYS antibody.Results Compared the older children,the younger children(4 years old) usually presented mild and atypical clinical features.The muscle damage was usually more severe in elder children.Immunohistochemical reactions to dystrophin antibodies were completely absent in 9 cases,very weak in 10 cases,and remaining with scattered positive fibers.There were no correlation between expression of dystrophin and severity of muscle pathology changes.Dystrophin in muscle membrane were severely deficient in DMD patients.Muscle pathology changes were associated with age,but not clearly with the loss of dystrophin.Conclusion Some other factors may also play important role in the muscle damage excepting dytrophin.