From Book News, Inc.

A collection of techniques for the analysis of DNA and protein from patients suspected to suffer from muscular dystropy (MD). The first of the 25 chapters review traditional strategies used to identify MDs. The section on DNA techniques is divided into 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 reagents 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.

Book Info

Univ. of Newcastle upon Tyne, UK. Offers diagnostic laboratories, basic and medical researchers, and clinicians an authoritative collection of exacting diagnostic tools and research on the novel therapeutics now beginning to emerge. Features DNA and protein-based diagnosis. DNLM: Muscular Dystrophies-diagnosis.

Preface v
Contributors xi
Part I. Background
1 Application of Molecular Methodologies in Muscular Dystrophies 3
2 Clinical Examination as a Tool for Diagnosis: Historical Perspective 9
3 Histopathological Diagnosis of Muscular Dystrophies 15
4 Serum Creatine Kinase in Progressive Muscular Dystrophies 31
Part II. The Molecular Approach
A. Genetics: X-Linked Muscular Dystrophy
5 Deletion and Duplication Analysis in Males Affected with Duchenne or Becker Muscular Dystrophy 53
6 Point Mutation Detection in the Dystrophin Gene 85
7 DNA-Based Techniques for Detection of Carriers of Duchenne and Becker Muscular Dystrophy 111
8 Fluorescence In Situ Hybridization Analysis for Carrier Detection in Duchenne/Becker Muscular Dystrophy 137
9 DNA-Based Prenatal Diagnosis for Duchenne and Becker Muscular Dystrophy 147
10 Molecular Diagnosis and Genetic Counseling of the Manifesting Carrier of Duchenne Muscular Dystrophy 173
11 Mutation Analysis of X-Linked Emery-Dreifuss Muscular Dystrophy Gene 189
B. Genetics: Autosomal Recessive Muscular Dystrophies
12 Analysis of the LAMA2 Gene in Merosin-Deficient Congenital Dystrophy 199
13 [alpha]-Sarcoglycan Mutations 219
14 Mutation Detection in [beta]- and [gamma]-Sarcoglycan (LGMD2E and LGMD2C) 227
15 Mutation Analysis in [delta]-Sarcoglycan (LGMD2F) 257
16 Molecular Diagnosis of Calpainopathies: Methods Used for Detection of Mutations in CAPN3 Gene Implicated in Limb-Girdle Muscular Dystrophy Type 2A 273
17 Molecular Investigation of LGMD2B-Haplotype Analysis and Mutation Screening 289
18 Molecular Analysis of Facioscapulohumeral Muscular Dystrophy (FSHD1) 305
Part III. Protein Analysis in the Muscular Dystrophies
19 Analysis of Protein Expression in Muscular Dystrophies 319
20 Immunological Reagents and Amplification Systems 325
21 Immunocytochemical Analysis 339
22 Multiplex Western Blot Analysis of Muscular Dystrophy Proteins 369
23 Fetal Muscle Biopsy 387
Part IV. Future Perspectives
24 Use of Animal Models to Understand Human Muscular Dystrophy 395
25 Options for Development of Gene-Based Therapy for Muscular Dystrophy 409
Index 435