Experience and Strategy for the Molecular Testing of Duchenne Muscular Dystrophy

摘要: Mutations in the dystrophin gene result both Duchenne and Becker muscular dystrophies (DMD BMD). Approximately two-thirds of affected patients have large deletions or duplications. Using multiplex polymerase chain reaction Southern blotting techniques, detection these larger mutations is relatively straightforward. Detection point remaining one-third has been challenging, mainly due to size lack hotspots prevalent mutations. However, with addition some newer molecular screening methods, it becoming more feasible for clinical laboratories test genes like dystrophin. Here we review features, describe mutation distributions, evaluate current strategies, illustrate how genetic findings impacted diagnostics dystrophies.