Article
Duchenne Muscular Dystrophy: From Diagnosis to Therapy.
Molecules (Basel, Switzerland) - 7 Oct 2015
Falzarano Maria Sofia, Scotton Chiara, Passarelli Chiara, Ferlini Alessandra
Abstract excerpt
Duchenne muscular dystrophy (DMD) is an X-linked inherited neuromuscular disorder due to mutations in the dystrophin gene. It is characterized by progressive muscle weakness and wasting due to the absence of dystrophin protein that causes degeneration of skeletal and cardiac muscle. The molecular diagnostic of DMD involves a deletions/duplications analysis performed by quantitative technique such as...
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