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Main description:
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.
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. 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
PRODUCT DETAILS
Publisher: Springer (Humana Press Inc.)
Publication date: November, 2010
Pages: 472
Weight: 689g
Availability: Available
Subcategories: Neurology
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