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