Duchenne and Becker muscular dystrophies (DMD/BMD) are the most common inherited
neuromuscular disease. The genetic diagnosis is not easily made because of the large size
of the dystrophin gene, complex mutational spectrum and high number of tests patients
undergo for diagnosis. Multiplex ligation-dependent probe amplification (MLPA) has been
used as the initial diagnostic test of choice. Although MLPA can diagnose 70% of DMD/BMD
patients having deletions/duplications, the remaining 30% of patients with small mutations …

Background Duchenne muscular dystrophy or Becker muscular dystrophy might be a
suitable candidate disease for application of next-generation sequencing in the genetic
diagnosis because the complex mutational spectrum and the large size of the dystrophin
gene require two or more analytical methods and have a high cost. The authors tested
whether large deletions/duplications or small mutations, such as point mutations or short
insertions/deletions of the dystrophin gene, could be predicted accurately in a single …