Re-evaluation of reading frame-shift hypothesis in Duchenne and Becker muscular dystrophy

Neurol India. 2003 Sep;51(3):367-9.

Abstract

The reading frame hypothesis has been proposed to explain the molecular basis of two allelic forms of muscular dystrophies, Duchenne/Becker muscular dystrophy (D/BMD). To evaluate the hypothesis in Indian D/BMD patients, we analyzed deletion of dystrophin exons in 147 DMD and 19 BMD patients. Our studies showed deviation of more than 30% from the reading frame hypothesis in DMD patients (47/147). The present results implicate a need to reevaluate the reading frame hypothesis.

MeSH terms

  • Child
  • Dystrophin / genetics*
  • Frameshift Mutation*
  • Gene Deletion
  • Genotype
  • Humans
  • Male
  • Muscular Dystrophy, Duchenne / genetics*
  • Phenotype

Substances

  • Dystrophin