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9780896036956

Muscular Dystrophy

by ;
  • ISBN13:

    9780896036956

  • ISBN10:

    0896036952

  • Format: Hardcover
  • Copyright: 2001-04-01
  • Publisher: Humana Pr Inc

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Summary

Katherine Bushby and Louise Anderson assemble 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. 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 reagents and of amplification systems. Comprehensive and highly practical, Muscular Dystrophy: Methods and Protocols offers today's diagnostic laboratories, basic and medical researchers, and 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.

Author Biography

Louise V. B. Anderson: Department of Neurobiology, Medical School, University of Newcastle upon Tyne, Newcastle upon Tyne, UK Egbert Bakker: Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands Rita J. Balice-Gordon: Department of Biochemistry and Molecular Biology, University of Southern California, Los Angeles, CA Rumaisa Bashir: Department of Molecular Genetics, Biology of Disease, University of Durham, Thornaby, Stockton-on Tees, UK Jacques Beckmann: Genethon, Evry, France Carsten G. Bonnemann: Department of Pediatrical Cardiology, Center for Child Medicine, Georg-August-Universitat Gottingen, Gottingen, Germany Robert H. Brown, Jr.: MDA Clinic, Massachusetts General Hospital, Boston, MA Katharine M. D. Bushby: Department of Human Genetics, School of Biochemistry and Genetics, University of Newcastle Upon Tyne, Newcastle upon Tyne, UK Ann Curtis: Department of Molecular Genetics, School of Biochemistry and Genetics, University of Newcastle Upon Tyne, Newcastle upon Tyne, UK Johan T. den Dunnen: MGC-Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands C. de Toma: Laboratiore de Biochimie et Genetique Moleculaire, Paris, France George Dickson: Division of Biochemistry, School of Biological Sciences, University of London, Egham, Surrey, UK Jonathan K. Dore: Regional Genetic Service, St. Mary's Hospital, Manchester, UK Matthew G. Dunckley: Division of Biochemistry, School of Biological Sciences, University of London, Egham, Surrey, UK Mark Evans: Hutzel Hospital, Detroit, MI Rune R. Frants: Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands David Gardner-Medwin: Flocktons, Heddon on the Wall, Northumberland, UK James Giron: Children's Research Institute, Department of Molecular Genetics, Washington, DC Pascale Guicheney: CRVA-Department Gencell, France Daisy Haggerty: Department of Molecular Genetics, School of Biochemistry and Genetics, University of Newcastle Upon Tyne, Newcastle Upon Tyne, UK Ruth Harrison: Department of Human Genetics, School of Biochemistry and Genetics, University of Newcastle Upon Tyne, Newcastle upon Tyne, UK Anne Helbling-Leclerc: CRVA-Department Gencell, France Eric P. Hoffman: Children's Research Institute, Department of Molecular Genetics, Washington, DC Marc Jeanpierre: Laboratoire de Biochimie Genetique, Paris, France Margaret A. Johnson: Department of Neurology, Medcial School, University of Newcastle upon Tyne, Newcastle upon Tyne, UK Helen M. Kingston: Regional Genetic Service, St. Mary's Hospital, Manchester, UK Louis M. Kunkel: Division of Genetics, Departments of Neurology, The Childrens' Hospital, Boston, MA Qui Lu: Neuromuscular Unit, Royal Postgraduate School, Hammersmith Hospital, London, UK Vincenzo Nigro: Istituto di Patologia Generale e Oncologia, Seconda Universita Degli, Studi di Napoli, Napoli, Italy Maria Rita Passos-Bueno: Instituto de Biologia, Universidade de Sao Paulo, Sao Paulo, Brazil Frederica Piccolo: Laboratiore de Biochimie et Genetique Moleculaire, Paris, France Sita Reddy: Department of Biochemistry and Molecular Biology, University of Southern California, Los Angeles, CA Mark M. Rich: Department of Biochemistry and Molecular Biology, University of Southern California, Los Angeles, CA Isabelle Richard: Genethon, Evry, France Caroline A. Sewry: Neuromuscular Unit, Royal Postgraduate School, Hammersmith Hospital, London, UK Daniela Toniolo: Istituto di Genetica Biochimica ed Evoluzionistica, Pavia, Italy Silvere M. van der Maarel: Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands Mariz Vainzof: Instituto de Biologia, Universidade de Sao Paulo, Sao Paulo, Brazil Mayana Zatz: Instituto de Biologia, Universidade de Sao Paulo, Sao Paulo, Brazil

Table of Contents

Prefacep. v
Contributorsp. xi
Background
Application of Molecular Methodologies in Muscular Dystrophiesp. 3
Clinical Examination as a Tool for Diagnosis: Historical Perspectivep. 9
Histopathological Diagnosis of Muscular Dystrophiesp. 15
Serum Creatine Kinase in Progressive Muscular Dystrophiesp. 31
The Molecular Approach
Genetics: X-Linked Muscular Dystrophy
Deletion and Duplication Analysis in Males Affected with Duchenne or Becker Muscular Dystrophyp. 53
Point Mutation Detection in the Dystrophin Genep. 85
DNA-Based Techniques for Detection of Carriers of Duchenne and Becker Muscular Dystrophyp. 111
Fluorescence In Situ Hybridization Analysis for Carrier Detection in Duchenne/Becker Muscular Dystrophyp. 137
DNA-Based Prenatal Diagnosis for Duchenne and Becker Muscular Dystrophyp. 147
Molecular Diagnosis and Genetic Counseling of the Manifesting Carrier of Duchenne Muscular Dystrophyp. 173
Mutation Analysis of X-Linked Emery-Dreifuss Muscular Dystrophy Genep. 189
Genetics: Autosomal Recessive Muscular Dystrophies
Analysis of the LAMA2 Gene in Merosin-Deficient Congenital Dystrophyp. 199
[alpha]-Sarcoglycan Mutationsp. 219
Mutation Detection in [beta]- and [gamma]-Sarcoglycan (LGMD2E and LGMD2C)p. 227
Mutation Analysis in [delta]-Sarcoglycan (LGMD2F)p. 257
Molecular Diagnosis of Calpainopathies: Methods Used for Detection of Mutations in CAPN3 Gene Implicated in Limb-Girdle Muscular Dystrophy Type 2Ap. 273
Molecular Investigation of LGMD2B-Haplotype Analysis and Mutation Screeningp. 289
Molecular Analysis of Facioscapulohumeral Muscular Dystrophy (FSHD1)p. 305
Protein Analysis in the Muscular Dystrophies
Analysis of Protein Expression in Muscular Dystrophiesp. 319
Immunological Reagents and Amplification Systemsp. 325
Immunocytochemical Analysisp. 339
Multiplex Western Blot Analysis of Muscular Dystrophy Proteinsp. 369
Fetal Muscle Biopsyp. 387
Future Perspectives
Use of Animal Models to Understand Human Muscular Dystrophyp. 395
Options for Development of Gene-Based Therapy for Muscular Dystrophyp. 409
Indexp. 435
Table of Contents provided by Syndetics. All Rights Reserved.

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