DMD / BMD Muscular Diseases

Duchenne / Becker Muscular Dystrophy (DMD / BMD) which is characterized by progressive muscle weakness and atrophy, caused by mutations in the dystrophin gene. Patients’ clinical symptoms can be light or severe according to mutations and it helps us distinguish the disease as DMD vs BMD.

Patients die in their 30s due to recurrent pulmonary diseases and cardiomyopathy. Dystrophin gene has located on the long arm of chromosome 5 (5q13) and comprises 79 exons.

"Genetic information offers an unlimited source of knowledge about human health and development; yet interpreting and applying this information places a huge responsibility on the scientific community."

James Watson