title: Re-evaluation of reading frame-shift hypothesis in Duchenne and Becker muscular dystrophy.
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.
authors.affiliation: Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Raebareli Road, Lucknow - 226014, India.
authors.forename: G S
authors.initials: GS
authors.lastname: Pandey
authors.forename: A
authors.initials: A
authors.lastname: Kesari
authors.forename: M
authors.initials: M
authors.lastname: Mukherjee
authors.forename: R D
authors.initials: RD
authors.lastname: Mittal
authors.forename: B
authors.initials: B
authors.lastname: Mittal
mesh_terms: D002648:Child; D016189:Dystrophin / Q000235:genetics*; D016368:Frameshift Mutation; D017353:Gene Deletion; D005838:Genotype; D006801:Humans; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics*; D010641:Phenotype
chemical_list: D016189:Dystrophin