Molecular and clinical correlations of deletions leading to Duchenne and Becker muscular dystrophies

Neurology. 1989 Apr;39(4):465-74. doi: 10.1212/wnl.39.4.465.


Human DMD cDNA probes have been used to delineate possible deletions in 160 affected males. Approximately 56% of these individuals had detectable deletions, 29% of which mapped to a region centered around 500 kb from the 5' end of the gene whereas 69% mapped to a region located centrally 1,200 kb from the 5' end. We have observed no correlation between the extent of a deletion, its location, and clinical severity of the associated disease. For some cases with deletions in the two high-frequency deletion regions, the predicted effect upon translational reading frame of the resultant dystrophin mRNA did not correlate with the associated disease phenotype.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Blotting, Southern
  • Chromosome Deletion*
  • DNA / blood
  • DNA / genetics
  • DNA / isolation & purification
  • DNA Probes
  • Exons
  • Female
  • Humans
  • Introns
  • Male
  • Muscular Dystrophies / classification
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophies / physiopathology
  • Pregnancy
  • Prenatal Diagnosis
  • Reference Values


  • DNA Probes
  • DNA