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BL
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| Record Number
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774866
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b594861
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| Main Entry
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edited by Terence Partridge.
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| Title & Author
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Molecular and Cell Biology of Muscular Dystrophy\ edited by Terence Partridge.
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| Publication Statement
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Dordrecht : Springer Netherlands, 1993
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| Series Statement
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Molecular and cell biology of human diseases series.
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| Page. NO
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(xvi, 344 pages)
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| ISBN
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9401046670
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: 9401115281
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: 9789401046671
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: 9789401115285
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| Contents
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1 Molecular human genetics and the Duchenne/Becker muscular dystrophy gene --; 1.1 Introduction --; 1.2 DMD and BMD phenotype --; 1.3 Localization to Xp21 --; 1.4 Isolation of Xp21 sequences --; 1.5 Chromosome walking and jumping in Xp21 --; 1.6 Identification of expressed sequences --; 1.7 Gene sequence and organization --; 1.8 Genotype and phenotype --; 1.9 Dystrophin --; 1.10 Conclusions --; References --; 2 Genotype/phenotype correlations in Duchenne/Becker dystrophy --; 2.1 Introduction --; 2.2 Duchenne muscular dystrophy --; 2.3 Dystrophinopathy in girls and women --; 2.4 Becker muscular dystrophy --; 2.5 Conclusion --; References --; 3 Molecular genetics and genetic counselling for Duchenne/Becker muscular dystrophy --; 3.1 Introduction --; 3.2 Duchenne and Becker muscular dystrophy --; 3.3 Genetic counselling for Duchenne and Becker muscular dystrophy: prior to molecular genetics --; 3.4 Genetic counselling of Duchenne and Becker muscular dystrophy post molecular genetics --; 3.5 Genetic counselling of Duchenne and Becker muscular dystrophy: Future --; 3.6 Conclusion --; Acknowledgements --; References --; 4 Inheritance and pathogenicity of myotonic dystrophy --; 4.1 Introduction --; 4.2 The clinical picture --; 4.3 Biochemical, electrophysiological and histological findings --; 4.4 Genetic mapping of the myotonic locus --; 4.5 Physical mapping --; 4.6 Isolation of the DM region as a series of overlapping genomic clones --; 4.7 Identifying candidate genes --; 4.8 Future prospects --; Acknowledgements --; References --; 5 Genetic mapping of facioscapulohumeral muscular dystrophy --; 5.1 Introduction --; 5.2 Positional cloning --; 5.3 Facioscapulohumeral muscular dystrophy: clinical features --; 5.4 FSHD: Linkage analysis and positional cloning --; Acknowledgements --; References --; 6 Dystrophin-associated glycoproteins: their possible roles in the pathogenesis of Duchenne muscular dystrophy --; 6.1 Introduction --; 6.2 Membrane properties of dystrophin --; 6.3 Dystrophin --; glycoprotein complex --; 6.4 Structure and function of dystroglycan (43/156 dystrophin-associated glycoprotein) --; 6.5 Molecular pathogenesis of Duchenne muscular dystrophy --; 6.6 Summary --; Acknowledgements --; References --; 7 PCR analysis of muscular dystrophy in mdx mice --; 7.1 Introduction --; 7.2 Mouse dystrophin cDNA clones --; 7.3 mdx mice --; 7.4 PCR analysis of mouse dystrophin expression --; 7.5 Summary --; Acknowledgements --; References --; 8 Cell biology of the satellite cell --; 8.1 Introduction --; 8.2 Satellite cells in normal muscle --; 8.3 Behaviour of satellite cells in damaged muscle --; 8.4 Satellite cells, myoblasts and implant therapy --; References --; 9 Molecular and cell biology of skeletal muscle regeneration --; 9.1 Introduction --; 9.2 Developmental origin of satellite cells and their identification in vivo --; 9.3 Replication during postnatal growth --; 9.4 Numbers and proliferative capacity of mpc from animals of different ages --; 9.5 The influence of growth factors and extracellular matrix components on the proliferation and differentiation of mpc --; Acknowledgements --; References --; 10 Molecular mechanisms of muscle damage --; 10.1 Introduction --; 10.2 The mechanisms of damage to normal skeletal muscle subjected to various damaging stresses --; 10.3 Mechanisms of damage in dystrophin-deficient muscle --; 10.4 Conclusions --; Acknowledgements --; References --; 11 Human dystrophin gene transfer: Genetic correction of dystrophin deficiency --; 11.1 Somatic gene therapy: An introduction --; 11.2 Therapeutic targets in Duchenne muscular dystrophy --; 11.3 Recombinant dystrophin genes: Their nature and availability --; 11.4 Physical gene transfer techniques --; 11.5 Viral-mediated gene transfer strategies --; 11.6 Studies in transgenic animals: Germ line gene transfer --; 11.7 Dystrophin: Structure and function --; 11.8 Gene therapy for Duchenne muscular dystrophy: Future prospects --; References --; 12 Myoblast transplantation in inherited myopathies --; 12.1 Introduction --; 12.2 Myoblast transplantation in animal models of inherited myopathies --; 12.3 Problems associated with myoblast transfer --; Acknowledgements --; References.
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| Abstract
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Molecular and Cell Biology of Muscular Dystrophy gives a series of accounts of various aspects of the remarkable breakthrough which has been achieved in our understanding of the Duchenne/Becker muscular dystrophies and of the consequences and ramifications of this breakthrough.
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| Subject
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Life sciences.
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| Subject
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Neurology.
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| Subject
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Neurosciences.
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| LC Classification
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RC935.M7E358 1993
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| Added Entry
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Terence Partridge
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