title: Deletion analysis of DMD/BMD children in Singapore using multiplex polymerase chain reaction (PCR) technique.
abstract: Twenty-three children suffering from Duchenne/Becker muscular dystrophy (DMD/BMD) in Singapore were analysed using the multiplex polymerase chain reaction (PCR) technique. Deletions were found in 14 cases. One rare case of total deletion of all nine exons was observed. This is the first DMD/BMD deletion analysis on South East Asian children. This technique for screening deletions was informative in 61 per cent of the local cases and would be useful for rapid diagnosis of deletion cases of DMD/BMD.
authors.affiliation: Department of Paediatrics, National University of Singapore.
authors.forename: P S
authors.initials: PS
authors.lastname: Lai
authors.forename: J S
authors.initials: JS
authors.lastname: Tay
authors.forename: P S
authors.initials: PS
authors.lastname: Low
authors.forename: W L
authors.initials: WL
authors.lastname: Lee
authors.forename: G A
authors.initials: GA
authors.lastname: Koh
authors.forename: G C
authors.initials: GC
authors.lastname: Gan
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000235:genetics; D016133:Polymerase Chain Reaction