DMD Deletion/Duplication Analysis
DMD(79 Exons) Deletion/Duplication Analysis
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Duchene muscular dystrophy (DMD) is an X-linked recessive muscular dystrophy caused by a mutation in the dystrophin gene (DMD) , located on the human X chromosome (Xp21.2).The gene encodes the protein called dystrophin that is a part of dystroglycan complex (DGC) of the membrane. The disorder is characterized by progressive muscle weakness wherein wastingoccurs at a frequency of about 1 in 3,500 males and results in muscle degeneration over time.