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  • Title: Mutation spectrum of dystrophin gene in malaysian patients with Duchenne/Becker muscular dystrophy.
    Author: Rani AQ, Sasongko TH, Sulong S, Bunyan D, Salmi AR, Zilfalil BA, Matsuo M, Zabidi-Hussin ZA.
    Journal: J Neurogenet; 2013 Jun; 27(1-2):11-5. PubMed ID: 23438214.
    Abstract:
    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.
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