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Detection of Truncated Dystrophin in Fetal DMD Myotubes

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Myoblast Transfer Therapy

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 280))

Abstract

Duchenne muscular dystrophy (DMD) is the most common of all muscular dystrophies (1 in 3000 live male births). It is an X-linked recessive lethal disorder, characterized by a progressive muscle degeneration. The application of DNA technology has made it possible to carry out reliable DNA diagnosis with more than 99% certainty in most familial DMD cases1,2,3.

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References

  1. E. Bakker, M.H. Hofker, N. Goor, J.L. Mandel, K. Wroggemann, K.E. Davies, L.M. Kunkel, H.F. Willard, W.A. Fenton, L. Sanduyl, D. Majoor-Krakauer, A.J. van Essen, M.G.J. Jahoda, E.S. Sachs, G.J.B. van Ommen and P.L. Pearson. Prenatal diagnosis and carrier detection of Duchenne Muscular Dystrophy with closely linked RFLPs. Lancet I: 655–658 (1985).

    Google Scholar 

  2. M. Koenig, E.P. Hoffman, C.J. Bertelson, A.P. Monaco, C. Feener and P.L. Pearson. Complete cloning of the Duchenne Muscular Dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 50: 509–517 (1987).

    Article  PubMed  CAS  Google Scholar 

  3. E. Bakker, E.J. Bonten, H. Veenema, J.T. den Dunnen, P.M. Grootscholten, G.J.B. van Ommen and P.L. Pearson. Prenatal diagnosis of Duchenne muscular dystrophy: a three year experience in a rapidly evolving field. J. Inher. Metab. Dis. 12 suppl. I: 174–190 (1989).

    Google Scholar 

  4. E.P. Hoffman, R.H. Brown and L.M. Kunkel. Dystrophin: the protein product of the Duchenne Muscular Dystrophy locus. Cell 51: 919–928 (1987).

    Article  PubMed  CAS  Google Scholar 

  5. K. Arahata, S. Ishiura, T. Ishiguro, T. Tsukuhara, Y. Suhara, C. Eguchi, T. Ishihara, I. Nonaka, E. Ozawa and H. Sugita. Immunostaining of skeletal and cardiac muscle surface membrane with antibody against Duchenne muscular dystrophy peptide. Nature 333: 861–863 (1988).

    Article  PubMed  CAS  Google Scholar 

  6. E.E. Zubrzycka-Gaarn, D.E. Bulman, G. Karpati, A.H.M. Burghes, B. Belfall, H. Hajklamut, J. Talbot, R.S. Hodges, P.N. Ray and R.G. Worton. The Duchenne muscular dystrophy gene product is localized in the sarcolemma of human skeletal muscle fibers. Nature 333: 466–469 (1988).

    Article  PubMed  CAS  Google Scholar 

  7. S.C. Watkins, E.P. Hoffman, H.S. Slayter and L.M. Kunkel. Immunoelectronmicroscopic localization of dystrophin in myofibers. Nature 333: 863–866 (1988).

    Article  PubMed  CAS  Google Scholar 

  8. E. Bonilla, C.E. Samitt, A.F. Miranda, A.P. Hays, G. Salviati, S. DiMauro, L.M. Kunkel, E.P. Hoffman and L.P. Rowland. Duchenne muscular dystrophy: deficiency of dystrophin at the muscle cell surface. Cell 54: 447–452 (1988).

    Article  PubMed  CAS  Google Scholar 

  9. E.P. Hoffman, C.M. Knudson, K.P. Campbell and L.M. Kunkel. Subcellular fractionation of dystrophin to the triads of skeletal muscle. Nature 330: 754–758 (1987).

    Article  PubMed  CAS  Google Scholar 

  10. E.P. Hoffman, K.H. Fischbeck, R.H. Brown, M. Johnson, R. Medori, J.D. Loike, J.B. Harris, R. Waterston, M. Brooke, L. Specht, W. Kupsky, J. Chamberlain, C.T. Caskey, F. Shapiro and L.M. Kunkel. Dystrophin characterization in muscle biopsies from Duchenne and Becker muscular dystrophy patients. N. Engl. J. Med. 318: 1363–1368 (1988).

    Article  PubMed  CAS  Google Scholar 

  11. A.P. Monaco, C.J. Bertolson, S. Liechti-Gallati, H. Moser and L.M. Kunkel. An explanation for the phenotypic difference between patients bearing partial deletions of the DMD locus. Genomics 2: 90–95 (1988).

    Article  PubMed  CAS  Google Scholar 

  12. E.P. Hoffman and L.M. Kunkel. Dystrophin abnormalities in Duchenne/Becker muscular dystrophy. Neuron 2: 1019–1030 (1989).

    Article  PubMed  CAS  Google Scholar 

  13. A.F.M. Moorman, M.P.A. Schalekamp, P.A.J. De Boer, W.J.C. Geerts, W.H. Lamers and R. Charles. Immunohistochemical analysis of the distribution of histone H5 and hemoglobin during chicken development. Differentiation 34: 161–167 (1987).

    Article  PubMed  CAS  Google Scholar 

  14. A.F.M. Moorman, N.A.J. de Boer, M.Th. Linders and R. Charles. The histone H5 variant in Xenopus laevis. Cell Diff. 14: 113–120 (1984).

    Article  CAS  Google Scholar 

  15. J.T. den Dunnen, E. Bakker, G.J.B. van Ommen and P.L. Pearson. The DMD gene analyzed by field inversion gel electrophoresis. Brit. Med. Bull. 45: 644–658 (1989).

    Google Scholar 

  16. K.P. Campbell and S.D. Kahl. Nature 338: 259–262 (1989).

    Article  PubMed  CAS  Google Scholar 

  17. A. Wessels, I.B. Ginjaar, A.F.M. Moorman and G.J.B. van Ommen. Different localization of dystrophin in developing and adult human skeletal muscle. Muscle and Nerve (in press).

    Google Scholar 

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Author information

Authors and Affiliations

  1. Dept. of Human Genetics, Sylvius Laboratory, 2333 AL, Leiden, the Netherlands

    Ieke B. Ginjaar, Egbert Bakker, Johan T. den Dunnen, Marleen M. B. van Paassen & Gert-Jan B. van Ommen

  2. Dept. of Anatomy and Embryology, AMC, 1105 AZ, Amsterdam, the Netherlands

    Ieke B. Ginjaar, Andy Wessels & Antoon F. M. Moorman

  3. Dept. of Prenatal Diagnostics, Hervormd Diaconessenhuis, Arnhem, the Netherlands

    Maarten D. Kloosterman

  4. Hospital for Sick Children, Toronto, Canada

    Elizabeth E. Zubrzycka-Gaarn

  5. Dept. of Neurology, Hospital of the University of Pennsylvania, Philadelphia, USA

    Kenneth H. Fischbeck

Authors
  1. Ieke B. Ginjaar
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  2. Egbert Bakker
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  3. Johan T. den Dunnen
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  4. Andy Wessels
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  5. Marleen M. B. van Paassen
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  6. Maarten D. Kloosterman
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  7. Elizabeth E. Zubrzycka-Gaarn
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  8. Kenneth H. Fischbeck
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  9. Antoon F. M. Moorman
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  10. Gert-Jan B. van Ommen
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Editor information

Editors and Affiliations

  1. University of Rochester, Rochester, New York, USA

    Robert C. Griggs

  2. McGill University, Montreal, Quebec, Canada

    George Karpati

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© 1990 Plenum Press, New York

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Ginjaar, I.B. et al. (1990). Detection of Truncated Dystrophin in Fetal DMD Myotubes. In: Griggs, R.C., Karpati, G. (eds) Myoblast Transfer Therapy. Advances in Experimental Medicine and Biology, vol 280. Springer, Boston, MA. https://doi.org/10.1007/978-1-4684-5865-7_4

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  • DOI: https://doi.org/10.1007/978-1-4684-5865-7_4

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-1-4684-5867-1

  • Online ISBN: 978-1-4684-5865-7

  • eBook Packages: Springer Book Archive

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