A Correlation of Genetic and Clinical Perspective of Becker’s Muscular Dystrophy

Abstract

Patients from neurogenetic clinic on the basis of clinical features, elevated serum CPK level and electromyographic features were recruited for the study. Molecular genetic testing was performed by Multiplex Polymerase Chain Reaction (PCR) technique. A total of 60 patients were recruited in this study out of which 36 patients had deletion and 24 patients had no deletion. Our data showed that there is no correlation between clinical severity/laboratory findings and genetic pattern in patients of BMD. It is concluded that even a small deletion can lead to both severe and mild BMD. The PCR based assays allows deletion detection in a cost-effective way in patients. The frequency of deletions in the study was 60%.

Keywords: Becker’s muscular dystrophy, multiplex polymerase chain reaction, dystrophinopathy

Cite this Article

U. Das, A. Joardar, S. Roy, D. Guin, A. Biswas, G. Gangopadhya. A Correlation of Genetic and Clinical Perspective of Becker’s Muscular Dystrophy. Research and Reviews: Journal of Neuroscience. 2019; 9(1): 33–37p.