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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 |
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