Muscular Dystrophy: Methods and Protocols Book

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