Muscular dystrophy : methods and protocols /

Muscular dystrophy : methods and protocols /

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Bibliographic Details
Imprint:Totowa, N.J. : Humana, ©2001.
Description:1 online resource (xii, 457 pages) : illustrations
Language:English
Series:Methods in molecular medicine ; 43
Methods in molecular medicine ; 43.
Subject:
Muscular dystrophy -- Molecular aspects -- Laboratory manuals.
Muscular Dystrophies -- genetics.
Genetic Testing.
Molecular Biology.
Muscular Dystrophies -- diagnosis.
Neurology.
Laboratory manuals.
Format: E-Resource Book
URL for this record:http://pi.lib.uchicago.edu/1001/cat/bib/11154643
Hidden Bibliographic Details
Other authors / contributors:Bushby, Katharine M. D.
Anderson, Louise V. B.
ISBN:9781592591381
0896036952
9780896036956
1592591388
1280821043
9781280821042
9786610821044
6610821046
9781617371400
Notes:Includes bibliographical references and index.
Restrictions unspecified
Electronic reproduction. [Place of publication not identified] : HathiTrust Digital Library, 2010.
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
English.
digitized 2010 HathiTrust Digital Library committed to preserve
Print version record.
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.
Other form:Print version: Muscular dystrophy. Totowa, N.J. : Humana, ©2001 0896036952
Standard no.:10.1385/1592591388.
Table of Contents:
  • Preface
  • Contributors
  • Part I.. Background
  • 1. Application of Molecular Methodologies in Muscular Dystrophies
  • 2. Clinical Examination as a Tool for Diagnosis: Historical Perspective
  • 3. Histopathological Diagnosis of Muscular Dystrophies
  • 4. Serum Creatine Kinase in Progressive Muscular Dystrophies
  • Part II.. The Molecular Approach
  • A.. Genetics: X-Linked Muscular Dystrophy
  • 5. Deletion and Duplication Analysis in Males Affected with Duchenne or Becker Muscular Dystrophy
  • 6. Point Mutation Detection in the Dystrophin Gene
  • 7. DNA-Based Techniques for Detection of Carriers of Duchenne and Becker Muscular Dystrophy
  • 8. Fluorescence In Situ Hybridization Analysis for Carrier Detection in Duchenne/Becker Muscular Dystrophy
  • 9. DNA-Based Prenatal Diagnosis for Duchenne and Becker Muscular Dystrophy
  • 10. Molecular Diagnosis and Genetic Counseling of the Manifesting Carrier of Duchenne Muscular Dystrophy
  • 11. Mutation Analysis of X-Linked Emery-Dreifuss Muscular Dystrophy Gene
  • B.. Genetics: Autosomal Recessive Muscular Dystrophies
  • 12. Analysis of the LAMA2 Gene in Merosin-Deficient Congenital Dystrophy
  • 13. [alpha]-Sarcoglycan Mutations
  • 14. Mutation Detection in [beta]- and [gamma]-Sarcoglycan (LGMD2E and LGMD2C)
  • 15. Mutation Analysis in [delta]-Sarcoglycan (LGMD2F)
  • 16. Molecular Diagnosis of Calpainopathies: Methods Used for Detection of Mutations in CAPN3 Gene Implicated in Limb-Girdle Muscular Dystrophy Type 2A
  • 17. Molecular Investigation of LGMD2B-Haplotype Analysis and Mutation Screening
  • 18. Molecular Analysis of Facioscapulohumeral Muscular Dystrophy (FSHD1)
  • Part III.. Protein Analysis in the Muscular Dystrophies
  • 19. Analysis of Protein Expression in Muscular Dystrophies
  • 20. Immunological Reagents and Amplification Systems
  • 21. Immunocytochemical Analysis
  • 22. Multiplex Western Blot Analysis of Muscular Dystrophy Proteins
  • 23. Fetal Muscle Biopsy
  • Part IV.. Future Perspectives
  • 24. Use of Animal Models to Understand Human Muscular Dystrophy
  • 25. Options for Development of Gene-Based Therapy for Muscular Dystrophy
  • Index

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