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. Boennemann and Louis M. Kunkel Mutation Analysis in _-Sarcoglycan (LGMD2F) Vincenzo Nigro Molecular Diagnosis of Calpainopathies: Methods Used for Detection of Mutations in theCAPN2 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) Silverere 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 Immunocytochemical 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