Dystrophin assay in muscular dystrophies: an Indian experience.

ABSTRACT

BACKGROUND. Dystrophin, a protein situated on the plasma membrane of skeletal muscle has been found to be abnormal in quality and quantity in patients with muscular dystrophies and may be useful in distinguishing between the different types. Experience with the technique has been limited to western countries. METHODS. We used dystrophin staining with monoclonal NCL-DYS (rod domain) antidystrophin antibody using the avidin-biotin conjugate immunoperoxidase technique in 16 out of 20 patients with various types of muscular dystrophies at a large tertiary care medical centre in India. RESULTS. The technique was unsuccessful in 4 cases. In the others the dystrophin staining pattern correlated well with the clinical diagnosis in 11 out of 16 patients. In the other 5 patients dystrophin assay helped to differentiate between Duchenne muscular dystrophy and the Becker muscular dystrophy in 2 patients suspected to have limb-girdle muscular dystrophy, it differentiated Duchenne muscular dystrophy from the Emery-Dreifuss muscular dystrophy and detected a manifest female carrier with Duchenne's dystrophy. CONCLUSION. Dystrophin staining may be useful in the differential diagnosis of patients with muscular dystrophies in India.