Muscular Dystrophy: Methods and Protocols by Katherine M.D. BushbyMuscular Dystrophy: Methods and Protocols by Katherine M.D. Bushby

Muscular Dystrophy: Methods and Protocols

EditorKatherine M.D. Bushby, Louise V.B. Anderson

Paperback | November 9, 2010

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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.
Title:Muscular Dystrophy: Methods and ProtocolsFormat:PaperbackDimensions:470 pages, 9.02 × 5.98 × 0 inPublished:November 9, 2010Publisher:Humana PressLanguage:English

The following ISBNs are associated with this title:

ISBN - 10:1617371408

ISBN - 13:9781617371400

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Table of Contents

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 the CAPN2 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

Editorial Reviews

"This book will be of primary interest to pathologists, geneticists, and neurologists actively engaged in molecular testing of the patients with muscular dystrophy. . .This is a highly practical book aimed at scientists actively engaged in doing the molecular tests. Diseases covered include the X-linked muscular dystrophies and the autosomal recessive muscular dystrophies. Both DNA and protein methods are covered. Concluding chapters discuss gene therapy and animal models of muscular dystrophy."-Doody's Health Sciences Book Review Journal"Several of the authors have been major players in making it all possible. It is remarkable to observe how many of the scientific discoveries have had immediate impact on molecular testing and thus have benefited many families through more accurate diagnoses and counseling....After a well-written background section, a major portion of the book deals with the molecular approach to X-linked DMD...Outstanding multiplex and Southern procedures are described in great detail, with primer sequences and maps of the restriction fragment patterns provided....Carrier testing, prenatal testing, and genetic counseling are also well covered in the remaining chapters dealing with DMD....The last major section of the book deals with protocols for testing the protein products of several of the dystrophies described earlier. This is an excellent addition because there are often times where the protein analysis is not only supportive but is the definitive test for an accurate diagnosis. Both immunocytochemical and Western immunoblotting are described. I have little doubt that this book will be of great interest and a reference text for laboratory directors specifically involved in muscular dystrophy testing. The techniques are described in great detail with excellent figures. This book will also be of interest to the clinical neurologists who often encounter these disorders. The editors have provided a comprehensive account of not only the methods, but also the clinical utilities of the methods." - Clinical Chemistry"...this book certainly lives up to the back-cover hype ("comprehensive and highly practical"; "offers...an authoritative collection of tools"). I was particularly impressed by the emphasis on the limitations of each technique, directions for interpretation, important controls and the level of rigor required in a diagnostic setting. The chosen authors are almost without exception recognized as first-rate practitioners of their respective techniques. Their distilled wisdom, the microlitre-by-microlitre protocols, and the tried-and-tested primer sequences (well over 800) make this book an almost sufficient guide to the de novo establishment of a muscular dystrophy diagnostic lab." - Human Genetics