Muscular dystrophy : methods and protocols

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書誌事項

Muscular dystrophy : methods and protocols

edited by Katharine M.D. Bushby and Louise V.B. Anderson

（Methods in molecular medicine / John M. Walker, series editor, 43）

Humana Press, c2001

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注記

Includes bibliographical references and index

内容説明・目次

内容説明

The term "muscular dystrophy" (MD) describes a group of primary genetic disorders of muscle that often have a distinctive and recognizable clinical p- notype, accompanied by characteristic, but frequently not pathognomonic, pathological features. Research into the molecular basis of the MDs by a c- bination of positional cloning and candidate gene analysis has provided the basis for a reclassification of these disorders, with genetic and protein data augmenting traditional clinically based nomenclature. These findings have brought insights into the molecular pathogenesis of MD, with an increasing number of potential pathways involved in arriving at a dystrophic phenotype. Some common themes can be recognized, however, including the involvement of five members of the dystrophin-associated complex (dystrophin and four sarcoglycans) in different types of MD, and the involvement of two nuclear envelope proteins in producing an Emery-Dreifuss MD phenotype. Other d- ease-associated genes appear to cause MD in a completely unrelated way, such as the involvement of calpain 3 in a form of limb-girdle muscular dystrophy. Section 1 of Muscular Dystrophy: Methods and Protocols reviews tra- tional strategies used to identify MDs. Meantime, techniques developed as a result of the research strategies described previously have become an integral part of the management of many patients with MD and their families, and these techniques are addressed in Sections 2 (DNA-based tests) and 3 (p- tein-based analyses). The continued effort to translate this enhanced und- standing into a molecular cure or treatment for MD is reviewed in Section 4.

目次

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

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