| Description |
1 online resource (xii, 457 pages) : illustrations |
| Series |
Methods in molecular medicine ; 43 |
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Methods in molecular medicine ; 43. 1543-1894
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| Contents |
Application of Molecular Methodologies in Muscular Dystrophies / Katharine M. Bushby, Louise V. Anderson -- Clinical Examination as a Tool for Diagnosis: Historical Perspective / David Gardner-Medwin -- Histopathological Diagnosis of Muscular Dystrophies / Margaret A. Johnson -- Serum Creatine Kinase in Progressive Muscular Dystrophies / Mayana Zatz, Mariz Vainzof, Maria Rita Passos-Bueno -- Deletion and Duplication Analysis in Males Affected with Duchenne or Becker Muscular Dystrophy / Ann Curtis, Daisy Haggerty -- Point Mutation Detection in the Dystrophin Gene / Johan T. Dunnen -- DNA-Based Techniques for Detection of Carriers of Duchenne and Becker Muscular Dystrophy / Egbert Bakker -- Fluorescence In Situ Hybridization Analysis for Carrier Detection in Duchenne/Becker Muscular Dystrophy / Jonathan K. Dore, Helen M. Kingston -- DNA- Based Prenatal Diagnosis for Duchenne and Becker Muscular Dystrophy / Ann Curtis, Daisy Haggerty -- Molecular Diagnosis and Genetic Counseling of the Manifesting Carrier of Duchenne Muscular Dystrophy / Eric P. Hoffman, James Giron -- Mutation Analysis of X-Linked Emery-Dreifuss Muscular Dystrophy Gene / Daniela Toniolo |
| Summary |
With the molecular mechanisms underlying the various forms of muscular dystrophy now rapidly clarifying, precise diagnosis has become a reality, and even a requirement in clinical practice. In Muscular Dystrophy: Methods and Protocols, Katherine Bushby and Louise Anderson have assembled an outstanding collection of key techniques for the analysis of DNA and protein from patients suspected to suffer from muscular dystrophy. Each method is highly detailed to ensure success and is presented by a hands-on expert who uses it on a day-to-day basis. The various DNA techniques focus on both the X-linked muscular dystrophies and the autosomal recessive muscular dystrophies. The protein methods include expression analysis, multiplex western blot analysis, immunocytochemical analysis, and reviews of immunological reagants and of amplification systems. Also discussed are the use of animal models to understand human muscular dystrophy and the available options for gene-based therapy. Comprehensive and highly practical, Muscular Dystrophy: Methods and Protocols offers today‚s diagnostic laboratories, basic and medical researchers, and active clinicians an authoritative collection of tools that will serve as exacting diagnostic tools as well as greatly empowering research on the novel therapeutics now beginning to emerge |
| Bibliography |
Includes bibliographical references and index |
| Notes |
Master and use copy. Digital master created according to Benchmark for Faithful Digital Reproductions of Monographs and Serials, Version 1. Digital Library Federation, December 2002. http://purl.oclc.org/DLF/benchrepro0212 MiAaHDL |
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English |
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Print version record |
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digitized 2010 HathiTrust Digital Library committed to preserve pda MiAaHDL |
| In |
Springer Protocols |
| Subject |
Muscular dystrophy -- Molecular aspects -- Laboratory manuals
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Genetic screening.
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Muscular Dystrophies -- genetics
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Genetic Testing
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Molecular Biology
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Muscular Dystrophies -- diagnosis
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MEDICAL -- Orthopedics.
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HEALTH & FITNESS -- Diseases -- Musculoskeletal.
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MEDICAL -- Rheumatology.
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Neurology
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Muskeldystrophie
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Molekulargenetik
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Diagnostik
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Wetenschappelijke technieken.
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| Genre/Form |
Laboratory manuals
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Laboratory manuals.
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Manuels de laboratoire.
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| Form |
Electronic book
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| Author |
Bushby, Katharine M. D.
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Anderson, Louise V. B.
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| LC no. |
00053902 |
| ISBN |
9781592591381 |
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0896036952 |
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9780896036956 |
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1592591388 |
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1280821043 |
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9781280821042 |
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9786610821044 |
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6610821046 |
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