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Muscular Dystrophy: Methods and Protocols (Methods in Molecular Medicine)
 
 
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Muscular Dystrophy: Methods and Protocols (Methods in Molecular Medicine) [Hardcover]

Katherine M.D. Bushby (Editor), Louise V.B. Anderson (Editor)

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Book Description

Methods in Molecular Medicine March 1, 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 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.

Editorial Reviews

Review

"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

From the Back Cover

With the molecular mechanisms underlying the various forms of muscular dystrophy now rapidly clarifying, precise diagnosis has become a reality, and even a requirement in clinical practice. In Muscular Dystrophy: Methods and Protocols, Katherine Bushby and Louise Anderson have assembled 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 who uses it on a day-to-day basis. 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 reagants and of amplification systems. Also discussed are the use of animal models to understand human muscular dystrophy and the available options for gene-based therapy. Comprehensive and highly practical, Muscular Dystrophy: Methods and Protocols offers today‚s diagnostic laboratories, basic and medical researchers, and active 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.

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Inside This Book (learn more)
First Sentence:
The term "muscular dystrophy" (MD) describes a group of primary genetic disorders of muscle that often have a distinctive and recognizable clinical phenotype, accompanied by characteristic, but frequently not pathognemonic, pathological features. Read the first page
Key Phrases - Statistically Improbable Phrases (SIPs): (learn more)
dystrophin labeling, mutant dystrophin gene, sucrose loading buffer, fibrous connective tissue increase, fetal muscle biopsy, adhalin gene, genetic normalization, sharktooth comb, hyaline fibers, cause autosomal recessive muscular dystrophy, dystrophin testing, manifesting carriers, utrophin expression, familial carriers, merosin deficiency, atrophied fibers, big gel, dystrophin gene mutation, biochemical normalization, illegitimate transcripts, muscular dystrophy type, dystrophin expression, isolated carriers, affected male relative, transgenic mdx mice
Key Phrases - Capitalized Phrases (CAPs): (learn more)
Gene Ther, Nature Genet, Humana Press Inc, Boehringer Mannheim, Life Technologies, Ben Hamida, Amersham Pharmacia Biotech, Acids Res, Muscle Nerve, New York, Saran Wrap, Ben Othmane, Midi Atto, New England Biolabs, Practical Approach, Texas Red, Account the Possibility of Germinal Mosaicism, Oxford University Press, Promega Wizzard, Agar Aids, Bioprobe Systems, Diagnosis of X-linked Emery-Dreifuss, Fetal Diagn, Indiana Amish, Johnson Fig
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