Muscular Dystrophy: Methods and Protocols / Edition 1

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This collection of modern methods for studying the molecular basis of muscular dystrophy and the potential for designer drug and gene-based therapies covers a broad spectrum of the clinical research protocols u tilized by those working on the cure of this debilitating disease. Its step-by-step, easy-to-follow protocols will enable researchers to lea rn what techniques the expert contributors are utilizing in their ques t to conquer this disease and permits them to apply them in their own research, thus leading to potentially new therapeutic regimens to trea t those afflicted with muscular dystrophy.

"...a collection of step-by-step, easy-to-follow protocols for studying the molecular basis of muscular dystrophy and the potential for designer drug and gene-based therapies."

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Editorial Reviews

Doody's Review Service
Reviewer: Daniel B. Hier, MD (University of Illinois at Chicago College of Medicine)
Description: This book, part of the Methods in Molecular Medicine series that provides detailed methods and procedures for molecular testing in a variety of genetically determined diseases, deals with molecular testing in muscular dystrophy.
Purpose: Like other volumes in the series, this book seeks to provide laboratory scientists and clinicians with enough detail on molecular testing to be able to duplicate or modify these published methods in their laboratories.
Audience: This book will be of primary interest to pathologists, geneticists, and neurologists actively engaged in molecular testing of the patients with muscular dystrophy.
Features: This is a multiauthored collection of 25 reviews that are procedure-based. Each review details methods, materials, and equipment used in the molecular testing as well as typical results and test standardization. This is a highly practical book aimed at scientists actively engaged in doing the molecular tests. Diseases covered include the X-linked muscular dystrophies and the autosomal recessive muscular dystrophies. Both DNA and protein methods are covered. Concluding chapters discuss gene therapy and animal models of muscular dystrophy.
Assessment: This is a collection of detailed protocols for molecular testing of muscular dystrophy. Reagents, materials, equipment, methods, and results are carefully detailed and explained.
A collection of techniques for the analysis of DNA and protein from patients suspected to suffer from muscular dystropy (MD). The first of the 25 chapters review traditional strategies used to identify MDs. The section on DNA techniques is divided into 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. Also discussed are the use of animal models to understand human muscular dystrophy and the available options for gene-based therapy. Annotation c. Book News, Inc., Portland, OR (

3 Stars from Doody
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Product Details

  • ISBN-13: 9780896036956
  • Publisher: Springer-Verlag New York, LLC
  • Publication date: 4/15/2001
  • Series: Methods in Molecular Medicine Series , #43
  • Edition description: 2001
  • Edition number: 1
  • Pages: 458
  • Product dimensions: 9.00 (w) x 6.00 (h) x 1.19 (d)

Table of Contents

Part I. Background

Application of Molecular Methodologies in the Muscular Dystrophies

Katherine M. D. Bushby and Louise V. B. Anderson

Clinical Examination as a Tool for Diagnosis: Historical Perspective

D. Gardner-Medwin

Histopathological Diagnosis of Muscular Dystrophies

Margaret A. Johnson

Serum Creatine-Kinase in Progressive Muscular Dystrophies

Mayana Zatz, Mariz Vainzof, and Maria Rita Passos-Bueno

Part II. The Molecular Approach

A. Genetics: X-Linked Muscular Dystrophies. Deletion and Duplication Anaylsis in Males Affected with Duchenne or Becker Muscular Dystrophy

Ann Curtis and Daisy Haggerty

Point Mutation Detection in the Dystrophin Gene

J. T. den Dunnen

DNA-Based Techniques for the Detection of Carriers of Duchenne and Becker Muscular Dystrophy

Egbert Bakker

Fluorescene In Situ Hybridization Analysis for Carrier Detection in Duchenne/Becker Muscular Dystrophy

Jonathan K. Dore and Helen M. Kingston

DNA-Based Prenatal Diagnosis for Duchenne and Becker Muscular Dystrophy

Ann Curtis and Daisy Haggerty

Molecular Diagnosis and Genetic Counseling of the Manifesting Carrier of Duchenne Muscular Dystrophy

Eric P. Hoffman and James Giron

B. Genetics: Autosomal Recessive Muscular Dystrophies. Mutation Analysis of the X-Linked Emery Dreifuss Muscular Dystrophy Gene

Daniela Toniolo

Analysis of the LAMA2 Gene in Merosin-Deficient Congenital Dystrophy

Anne Helbling-Leclerc and Pascale Guicheney

_-Sarcoglycan Mutations

F. Piccolo, C. de Toma, and M. Jeanpierre

Mutation Detection in _-and _-Sacrcoglycan (LGMD 2E and LGMD 2C)

Carsten G. Bönnemann and Louis M. Kunkel

Mutation Analysis in _-Sarcoglycan (LGMD2F)

Vincenzo Nigro

Molecular Diagnosis of Calpainopathies: Methods Used for Detection of Mutations in the CAPN2 Gene Implicated in Limb-Girdle Muscular Dystophy Type 2A

Isabelle Richard and Jacques Beckman

Molecular Investigation of LGMD2B-Haplotype Analysis and Mutation Screening

Rumaisa Bashir, Ruth Harrison, and Robert H. Brown Jr

Molecular Analysis of Facioscapulohumeral Muscular Dystrophy (FSHD1)

Silverère M. van der Maarel, Egbert Bakker, and Rune R. Frants

Part III. Protein Analysis in the Muscular Dystrophies

Analysis of Protein Expression in the Muscular Dystrophies

Louise V. B. Anderson

Immunological Reagents and Amplification Systems

C. A. Sewry and Qui Lu

Immunocyhemical Analysis

Margaret A. Johnson

Multiplex Western Blot Analysis of the Muscular Dystrophy Proteins

Louise V. B. Anderson

Fetal Muscle Biopsy

Eric P. Hoffman and Mark Evans

Part IV. Conclusion

Use of Animal Models to Understand Human Muscular Dystrophy

M. M. Rich, R. J. Balice-Gordon, and S. Reddy

Options for the Development of Gene-Based Therapy of Muscular Dystrophy

Matthew G. Dunckley and George Dickson

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