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Muscular Dystrophy [electronic resource] : Methods Protocols / edited by Katharine M.D. Bushby, Louise V.B. Anderson.

Publication:
Totowa, NJ : Springer New York, 2001.
Format/Description:
Book
1 online resource (XII, 458 pages)
Series:
Methods in Molecular Medicine, 1543-1894 ; 43
Springer Protocols (Springer-12345)
Methods in Molecular Medicine, 1543-1894 ; 43
Contained In:
Springer eBooks
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Subjects:
Medicine.
Neurology.
Local subjects:
Medicine & Public Health. (search)
Neurology. (search)
System Details:
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Summary:
With the molecular mechanisms underlying the various forms of muscular dystrophy now rapidly clarifying, precise diagnosis has become a reality, and even a requirement in clinical practice. In Muscular Dystrophy: Methods and Protocols, Katherine Bushby and Louise Anderson have assembled an outstanding collection of key techniques for the analysis of DNA and protein from patients suspected to suffer from muscular dystrophy. Each method is highly detailed to ensure success and is presented by a hands-on expert who uses it on a day-to-day basis. The various DNA techniques focus on both 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 reagants 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. Comprehensive and highly practical, Muscular Dystrophy: Methods and Protocols offers today,s diagnostic laboratories, basic and medical researchers, and active clinicians an authoritative collection of tools that will serve as exacting diagnostic tools as well as greatly empowering research on the novel therapeutics now beginning to emerge.
Contents:
Background
Application of Molecular Methodologies in Muscular Dystrophies
Clinical Examination as a Tool for Diagnosis
Histopathological Diagnosis of Muscular Dystrophies
Serum Creatine Kinase in Progressive Muscular Dystrophies
The molecular approach
Deletion and Duplication Analysis in Males Affected with Duchenne or Becker Muscular Dystrophy
Point Mutation Detection in the Dystrophin Gene
DNA-Based Techniques for Detection of Carriers of Duchenne and Becker Muscular Dystrophy
Fluorescence In Situ Hybridization Analysis for Carrier Detection in Duchenne/Becker Muscular Dystrophy
DNA- Based Prenatal Diagnosis for Duchenne and Becker Muscular Dystrophy
Molecular Diagnosis and Genetic Counseling of the Manifesting Carrier of Duchenne Muscular Dystrophy
Mutation Analysis of X-Linked Emery-Dreifuss Muscular Dystrophy Gene
Analysis of LAMA2 Gene in Merosin- Deficient Congenital Dystrophy
?-Sarcoglycan Mutations
Mutation Detection in ?- and ?-Sarcoglycan (LGMD2E and LGMD2C)
Mutation Analysis in ?-Sarcoglycan (LGMD2F)
Molecular Diagnosis of Calpainopathies
Molecular Investigation of LGMD2B-Haplotype Analysis and Mutation Screening
Molecular Analysis of Facioscapulohumeral Muscular Dystrophy (FSHD1)
Protein Analysis in the Muscular Dystrophies
Analysis of Protein Expression in Muscular Dystrophies
Immunological Reagents and Amplification Systems
Immunocytochemical Analysis
Multiplex Western Blot Analysis of Muscular Dystrophy Proteins
Fetal Muscle Biopsy
Use of Animal Models to Understand Human Muscular Dystrophy
Options for Development of Gene-Based Therapy for Muscular Dystrophy.
Contributor:
Bushby, Katharine M.D. editor.
Anderson, Louise V.B. editor.
SpringerLink (Online service)
Other format:
Printed edition:
ISBN:
9781592591381
Publisher Number:
10.1385/1592591388 doi
Access Restriction:
Restricted for use by site license.