MLPA identification of dystrophin mutations and in silico evaluation of the predicted protein in dystrophinopathy cases from India

• Main Authors: Sekar Deepha (Author), Seena Vengalil (Author), Veeramani Preethish-Kumar (Author), Kiran Polavarapu (Author), Atchayaram Nalini (Author), Narayanappa Gayathri (Author), Meera Purushottam (Author)
• Format: Book
• Published: BMC, 2017-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive disorders caused by mutations in the DMD gene. The aim of this study was to predict the effect of gene mutations on the dystrophin protein and study its impact on clinical phenotype. Meth...