title: Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy.
abstract: Duchenne muscular dystrophy (DMD) and its less severe form Becker muscular dystrophy (BMD) are allelic disorders. It has been suggested that in the mutations involving BMD, the translational reading frame of messenger RNA is maintained and a smaller, though partially functional, protein is produced. In order to test this, the exon-intron boundaries of the first ten exons of the DMD gene were determined, and 29 patients were analyzed. In a number of BMD patients (mild and severe BMD), the reading frame of messenger RNA was not maintained. On the basis of these findings, a model for reinitiation from an internal start codon is suggested.
authors.affiliation: Genetics Department, Hospital for Sick Children, Toronto, Ontario, Canada.
authors.forename: S B
authors.initials: SB
authors.lastname: Malhotra
authors.forename: K A
authors.initials: KA
authors.lastname: Hart
authors.forename: H J
authors.initials: HJ
authors.lastname: Klamut
authors.forename: N S
authors.initials: NS
authors.lastname: Thomas
authors.forename: S E
authors.initials: SE
authors.lastname: Bodrug
authors.forename: A H
authors.initials: AH
authors.lastname: Burghes
authors.forename: M
authors.initials: M
authors.lastname: Bobrow
authors.forename: P S
authors.initials: PS
authors.lastname: Harper
authors.forename: M W
authors.initials: MW
authors.lastname: Thompson
authors.forename: P N
authors.initials: PN
authors.lastname: Ray
mesh_terms: D001483:Base Sequence; D015139:Blotting, Southern; D002872:Chromosome Deletion; D015342:DNA Probes; D016189:Dystrophin; D005091:Exons; D005796:Genes; D006801:Humans; D009124:Muscle Proteins / Q000235:genetics*; D009136:Muscular Dystrophies / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D014960:X Chromosome
chemical_list: D015342:DNA Probes; D016189:Dystrophin; D009124:Muscle Proteins