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 hands-on expert. 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 reagents and of amplification systems. Comprehensive and highly practical, Muscular Dystrophy: Methods and Protocols offers today's diagnostic laboratories, basic and medical researchers, and 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.

Includes supplementary material: sn.pub/extras

Part I. BackgroundApplication of Molecular Methodologies in the Muscular DystrophiesKatherine M. D. Bushby and Louise V. B. AndersonClinical Examination as a Tool for Diagnosis: Historical PerspectiveD. Gardner-MedwinHistopathological Diagnosis of Muscular DystrophiesMargaret A. JohnsonSerum Creatine-Kinase in Progressive Muscular DystrophiesMayana Zatz, Mariz Vainzof, and Maria Rita Passos-BuenoPart II. The Molecular ApproachA. Genetics: X-Linked Muscular Dystrophies. Deletion and Duplication Anaylsis in Males Affected with Duchenne or Becker Muscular DystrophyAnn Curtis and Daisy HaggertyPoint Mutation Detection in the Dystrophin GeneJ. T. den DunnenDNA-Based Techniques for the Detection of Carriers of Duchenne and Becker Muscular DystrophyEgbert BakkerFluorescene In Situ Hybridization Analysis for Carrier Detection in Duchenne/Becker Muscular DystrophyJonathan K. Dore and Helen M. KingstonDNA-Based Prenatal Diagnosis for Duchenne and Becker Muscular DystrophyAnn Curtis and Daisy HaggertyMolecular Diagnosis and Genetic Counseling of the Manifesting Carrier of Duchenne Muscular DystrophyEric P. Hoffman and James GironB. Genetics: Autosomal Recessive Muscular Dystrophies. Mutation Analysis of the X-Linked Emery Dreifuss Muscular Dystrophy GeneDaniela TonioloAnalysis of the LAMA2 Gene in Merosin-Deficient Congenital DystrophyAnne Helbling-Leclerc and Pascale Guicheney_-Sarcoglycan MutationsF. Piccolo, C. de Toma, and M. JeanpierreMutation Detection in _-and _-Sacrcoglycan (LGMD 2E and LGMD 2C)Carsten G. Bönnemann and Louis M. KunkelMutation Analysis in _-Sarcoglycan (LGMD2F)Vincenzo NigroMolecular Diagnosis of Calpainopathies: Methods Used for Detection of Mutations in theCAPN2 Gene Implicated in Limb-Girdle Muscular Dystophy Type 2AIsabelle Richard and Jacques BeckmanMolecular Investigation of LGMD2B-Haplotype Analysis and Mutation ScreeningRumaisa Bashir, Ruth Harrison, and Robert H. Brown JrMolecular Analysis of Facioscapulohumeral Muscular Dystrophy (FSHD1)Silverère M. van der Maarel, Egbert Bakker, and Rune R. FrantsPart III. Protein Analysis in the Muscular DystrophiesAnalysis of Protein Expression in the Muscular DystrophiesLouise V. B. AndersonImmunological Reagents and Amplification SystemsC. A. Sewry and Qui LuImmunocytochemical AnalysisMargaret A. JohnsonMultiplex Western Blot Analysis of the Muscular Dystrophy ProteinsLouise V. B. AndersonFetal Muscle BiopsyEric P. Hoffman and Mark EvansPart IV. ConclusionUse of Animal Models to Understand Human Muscular DystrophyM. M. Rich, R. J. Balice-Gordon, and S. ReddyOptions for the Development of Gene-Based Therapy of Muscular DystrophyMatthew G. Dunckley and George Dickson