Duchenne Muscular Dystrophy: Advances In Molecular Genetics And Changing Strategies In Diagnosis, Prevention And Therapeutics

Duchenne Muscular dystrophy (DMD) is caused by a mutation of the dystrophin gene – the largest human gene, with 79 exons – located at p21 on the X chromosome. Mutations of the dystrophin gene include deletions in 60% of the cases, duplications in 5-10% and point mutations in the rest [1]. A variation in the mutation can result in a milder form of the disease – Becker muscle dystrophy (BMD) – which has a later onset and much slower progression. Some patients with this mutation may have isolated cardiomyopathy. The dystrophin gene codes for the protein dystrophin, which is required for stabilization of the dystrophin-associated protein complex at the sarcolemma. It is the first protein to be characterized by reverse genetics, which means that the gene was discovered first and the protein was characterized thereafter [2]. Absence of dystrophin leads to destruction of the muscle fiber and progressive muscular weakness.