Mutation spectrum of dystrophin gene in malaysian patients with Duchenne/Becker muscular dystrophy

J Neurogenet. 2013 Jun;27(1-2):11-5. doi: 10.3109/01677063.2012.762580. Epub 2013 Feb 26.


We undertook the clinical feature examination and dystrophin analysis using multiplex ligation-dependent probe amplification (MLPA) and direct DNA sequencing of selected exons in a cohort of 35 Malaysian Duchenne/Becker muscular dystrophy (DMD/BMD) patients. We found 27 patients with deletions of one or more exons, 2 patients with one exon duplication, 2 patients with nucleotide deletion, and 4 patients with nonsense mutations (including 1 patient with two nonsense mutations in the same exon). Although most cases showed compliance to the reading frame rule, we found two unrelated DMD patients with an in-frame deletion of the gene. Two novel mutations have been detected in the Dystrophin gene and our results were compatible with other studies where the majority of the mutations (62.8%) are located in the distal hotspot. However, the frequency of the mutations in our patient varied as compared with those found in other populations.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • Cohort Studies
  • Creatine Kinase / blood
  • DNA Mutational Analysis
  • Dystrophin / genetics*
  • Female
  • Genetic Predisposition to Disease / genetics*
  • Genotype
  • Humans
  • Malaysia
  • Male
  • Muscular Dystrophy, Duchenne / blood
  • Muscular Dystrophy, Duchenne / genetics*
  • Mutation / genetics*
  • Sequence Analysis, DNA


  • Dystrophin
  • Creatine Kinase