Muscular dystrophy research : from molecular diagnosis toward therapy : proceedings of the Satellite Symposium on Muscular Dystrophy Research 90, Venice, Italy, 14-15 September 1990, held in conjunction with the VIIth International Congress on Neuromuscular Diseases, Munich, Germany, 16-22 September 1990
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書誌事項
Muscular dystrophy research : from molecular diagnosis toward therapy : proceedings of the Satellite Symposium on Muscular Dystrophy Research 90, Venice, Italy, 14-15 September 1990, held in conjunction with the VIIth International Congress on Neuromuscular Diseases, Munich, Germany, 16-22 September 1990
（International congress series, no. 934）
Excerpta Medica, 1991
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Includes index
Sole distributors for the USA and Canada, Elsevier Science Pub. Co.
内容説明・目次
内容説明
In the last decade, if not only in the last five years, an unprecedented advance occured in the understanding of the primary defect involved in Duchenne muscular dystrophy. As a consequence, new promising lines and trends of research emerged: molecular diagnosis by use of anti-dystrophin antibodies or by DNA probes and those more strictly dealing with the perspectives of therapy, including myoblast transfer and gene therapy. The many outstanding papers which appear in this volume document the incredible power of modern tools of medical research in unravelling the complexity of the pathology and in finding new therapeutical strategies.
目次
Introductory lecture. A new era for muscular dystrophy research (M. Fardeau). Molecular biology of the Dystrophin gene and its product. Duchenne and Becker muscular dystrophy mutations, studied at the gene and protein level (G.J.B. van Ommen, J.T. den Dunnen, L. Casula, L.A.J. Blonden, P.M. Grootscholten, H.B. Ginjaar, M.H.B. van Paassen, E. Bakker and A.F. Moorman). A comparison of the dystrophin gene structure in primates and lower vertebrates (G. Meng, W. Kress, S. Scherpf, T. Bettecken, W. Feichtinger, W. Schempp, M. Schmid and C.R. Muller). Current knowledge on dystrophin structure and function (E.P. Hoffman). Purification of dystrophin and visualization by rotatory-shadowing in electron microscopy, and deletion detection using domain-specific antibodies (F. Pons, N. Augier, J. Boucraut, R. Heilig, J. Leger, D. Mornet and J.J. Leger). Molecular biology and diagnosis. Molecular biology and diagnosis of muscular dystrophy: Immunocytochemical and immunoblot assays of dystrophin (K. Arahata, T. Ishihara, I. Nonaka and H. Sugita). Mild myopathic syndromes (K.H. Fischbeck). Advances and pitfalls in prenatal diagnosis. Five years DNA-analysis for Duchenne and Becker muscular dystrophy and hemophilia (E. Bakker, A.L.J. Kneppers, E. Voorhoeve, P. Deutz-Terlouw, A.H.J.T. Brocker-Vriends, G.J.B. van Ommen). Direct gene test for Duchenne muscular dystrophy in families without living patients (T. Bettecken and C.R. Muller). Heterozygote diagnosis by dystrophin testing (M. Mora, L. Morandi, M. Gebbia, E. Gussoni and F. Cornelio). Myoblast transfer. Use of normal myogenic cells to repair, replace, and rescue mdx mouse muscle from necrosis (T. Partridge). Myoblast transfer in Duchenne muscular dystrophy. A perspective (G. Karpati). Pioneering development of myoblast transfer therapy (P. Law, T. Goodwin. Q. Fang, M. Chen, Hua-Ju Li, A. Florendo, D. Kirby, T. Bertorini, H. Herrod and G. Golden). Methodologic considerations in clinical studies of myoblast implantation (R.G. Miller, L. Steinman, S. Majumdar, A. Almada, G.K. Pavlath and H.M. Blau). Human myoblast transplantation (J.P. Tremblay, R. Roy, J.-P. Bouchard, J. Huard, C. Labrecque, G. Dansereau, B. Lemieux, M. Goulet and B. Roy). Perspectives of gene therapy. Gene therapy for congenital diseases (S. Rossini and C. Bordignon). Transcripts of the Duchenne muscular dystrophy gene in nonmuscle tissues (D. Yaffe, A. Makover, S. Bar, D. Zuk, E. Barnea and U. Nudel). The dystrophin transcripts in DMD and BMD patients with gene deletion (J. Chelly, H. Gilgenkrantz, M. Lambert, G. Hamard, P. Chafey, D. Recan, I.B. Ginjaar, M. Fardeau, F. Tome, A. Kahn and J.-C. Kaplan). Adenovirus as a vector for gene expression in muscle cells (B. Quantin, L. Stratford-Perricaudet, J.-L. Mandel and M. Perricaudet). Management and therapeutical trials. Therapeutic trials in the management of DMD (V. Dubowitz). A trial with a new steroid in Duchenne muscular dystrophy (C. Angelini, E. Pegoraro, M. Intino, A. Pini, A.
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