Asymptomatic Becker muscular dystrophy in a family with a multiexon deletion

Muscle Nerve. 2009 Feb;39(2):239-43. doi: 10.1002/mus.21193.


We report a Becker muscular dystrophy (BMD) family with one 5-year-old affected patient and a 69-year-old asymptomatic grandfather. Dystrophin gene multiplex polymerase chain reaction and multiplex ligation-dependant probe amplification analysis showed that both males carried an in-frame deletion of exons 45-55. Segregation analysis revealed two additional asymptomatic boys in this family. Our finding supports previous predictions that exons 45-55 are the optimal multiexon skipping target in antisense gene therapy to transform the severe Duchenne muscular dystrophy into the milder BMD, or even asymptomatic, phenotype.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Child, Preschool
  • Dystrophin / genetics*
  • Exons / genetics*
  • Family Health*
  • Female
  • Gene Dosage
  • Humans
  • Male
  • Muscular Dystrophy, Duchenne / genetics*
  • Sequence Analysis
  • Sequence Deletion / genetics*


  • Dystrophin