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Muscular Dystrophy: Methods and Protocols Book

Muscular Dystrophy: Methods and Protocols
Muscular Dystrophy: Methods and Protocols, , Muscular Dystrophy: Methods and Protocols has a rating of 3 stars
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  • Muscular Dystrophy: Methods and Protocols
  • Written by author Katherine Bushby
  • Published by Springer-Verlag New York, LLC, April 2001
  • Katherine Bushby and Louise Anderson assemble 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
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Authors

Prefacev
Contributorsxi
Part I.Background
1Application of Molecular Methodologies in Muscular Dystrophies3
2Clinical Examination as a Tool for Diagnosis: Historical Perspective9
3Histopathological Diagnosis of Muscular Dystrophies15
4Serum Creatine Kinase in Progressive Muscular Dystrophies31
Part II.The Molecular Approach
A.Genetics: X-Linked Muscular Dystrophy
5Deletion and Duplication Analysis in Males Affected with Duchenne or Becker Muscular Dystrophy53
6Point Mutation Detection in the Dystrophin Gene85
7DNA-Based Techniques for Detection of Carriers of Duchenne and Becker Muscular Dystrophy111
8Fluorescence In Situ Hybridization Analysis for Carrier Detection in Duchenne/Becker Muscular Dystrophy137
9DNA-Based Prenatal Diagnosis for Duchenne and Becker Muscular Dystrophy147
10Molecular Diagnosis and Genetic Counseling of the Manifesting Carrier of Duchenne Muscular Dystrophy173
11Mutation Analysis of X-Linked Emery-Dreifuss Muscular Dystrophy Gene189
B.Genetics: Autosomal Recessive Muscular Dystrophies
12Analysis of the LAMA2 Gene in Merosin-Deficient Congenital Dystrophy199
13[alpha]-Sarcoglycan Mutations219
14Mutation Detection in [beta]- and [gamma]-Sarcoglycan (LGMD2E and LGMD2C)227
15Mutation Analysis in [delta]-Sarcoglycan (LGMD2F)257
16Molecular Diagnosis of Calpainopathies: Methods Used for Detection of Mutations in CAPN3 Gene Implicated in Limb-Girdle Muscular Dystrophy Type 2A273
17Molecular Investigation of LGMD2B-Haplotype Analysis and Mutation Screening289
18Molecular Analysis of Facioscapulohumeral Muscular Dystrophy (FSHD1)305
Part III.Protein Analysis in the Muscular Dystrophies
19Analysis of Protein Expression in Muscular Dystrophies319
20Immunological Reagents and Amplification Systems325
21Immunocytochemical Analysis339
22Multiplex Western Blot Analysis of Muscular Dystrophy Proteins369
23Fetal Muscle Biopsy387
Part IV.Future Perspectives
24Use of Animal Models to Understand Human Muscular Dystrophy395
25Options for Development of Gene-Based Therapy for Muscular Dystrophy409
Index435


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