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Review Article| Volume 18, ISSUE 3, P167-172, May 1996

Duchenne/Becker muscular dystrophy: From molecular diagnosis to gene therapy

  • Masafumi Matsuo
    Correspondence
    Corresponding author. Fax: (81) (78) 362-6064.
    Affiliations
    Division of Genetics, International Center for Medical Research, Kobe University School of Medicine, 7-5-1, Kusunoki-cho, Chuo-ku, Kobe, Hyogo 650, Japan
    Search for articles by this author
DOI:https://doi.org/10.1016/0387-7604(96)00007-1
Duchenne/Becker muscular dystrophy: From molecular diagnosis to gene therapy
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      Abstract

      Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked muscular dystrophies. The recent isolation of the defective gene in DMD/BMD and the identification of its protein product, dystrophin, have revolutionized our ability to diagnose DMD/BMD and promoted speculation regarding the application of gene therapy. The purpose of this review is to present progress made in this area of research, with particular reference to dystrophin Kobe, which is caused by exon skipping during splicing due to the presence of an intra-exon deletion. On the basis of result of molecular analysis of dystrophin Kobe we propose a novel way of gene therapy for DMD, in which antisense oligonucleotides transform DMD into BMD phenotype by inducing exon skipping.
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      Article info

      Publication history

      Accepted: December 18, 1995
      Received: October 26, 1995

      Identification

      DOI: https://doi.org/10.1016/0387-7604(96)00007-1

      Copyright

      © 1996 Elsevier Science B.V. All rights reserved. Published by Elsevier Inc.

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