title: Dystrophin expression in Duchenne patients with "in-frame" gene deletions.
abstract: Details of disease progression and dystrophin expression are presented for three patients with Duchenne muscular dystrophy (DMD) who unexpectedly had intragenic deletions which maintained the open reading frame for mRNA translation. Analysis of dystrophin in muscle biopsies showed variable dystrophin synthesis in all three patients. Two with relatively small deletions (missing exons 10-13 and 52-55) had low levels of dystrophin which were comparable to those found in many DMD patients. The third patient (with a larger deletion which removed exons 3-25) produced dystrophin in the high abundance which is normally associated with patients who have Becker muscular dystrophy. This is the first time that a patient has been described with the clinical phenotype of DMD, a large amount of dystrophin which was correctly localized at the periphery of muscle fibres and an in-frame deletion of exons in the amino terminal domain.
authors.affiliation: Muscular Dystrophy Group Research Laboratories, Newcastle General Hospital, Newcastle upon Tyne, UK.
authors.forename: L V
authors.initials: LV
authors.lastname: Nicholson
authors.forename: K M
authors.initials: KM
authors.lastname: Bushby
authors.forename: M A
authors.initials: MA
authors.lastname: Johnson
authors.forename: D
authors.initials: D
authors.lastname: Gardner-Medwin
authors.forename: I B
authors.initials: IB
authors.lastname: Ginjaar
mesh_terms: D001706:Biopsy; D015153:Blotting, Western; D002648:Child; D002675:Child, Preschool; D002891:Chromosomes, Human, Pair 21; D016189:Dystrophin / Q000096:biosynthesis / Q000235:genetics*; D005091:Exons; D017353:Gene Deletion; D015870:Gene Expression; D006801:Humans; D008297:Male; D009132:Muscles / Q000737:chemistry; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics*; D016366:Open Reading Frames
chemical_list: D016189:Dystrophin