Muscular Dystrophy

Duchenne or Becker muscular dystrophy (DMD, BMD) are severe neuromuscular diseases caused by inherited mutations of the gene coding for the Dystrophin protein. These X-linked disorders are characterized by variable degrees of muscle wasting and weakness. With use of PCR-based assays Experteam allows genetic deletion detection of the most frequently deleted exons for most DMD/BMD patients. The deletion analysis is performed by multiplex PCR kits corresponding to the three different kits which amplify different exons. Kit 1 targets the exons spanning the two hot spot deletions regions and can detect almost all of the deletions. The lenght of these deletions will then be more precisely determined using kits 2 and 3.

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