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.
Genes2me offers DMD Deletion/Duplication Analysis based on the MLPA technology (Multiplex Ligation-dependent Probe Amplification).
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More than 1000 mutations in the DMD gene have been identified in people with Duchene and Beckers forms of muscular dystrophy. Most of the mutations result in deletion or duplication within the DMD gene and prevent any functional dystrophin protein from being produced.
Carrier Identification, if patients or their families
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