Muscular Dystrophy

"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

• Background.- Application of Molecular Methodologies in Muscular Dystrophies.- Clinical Examination as a Tool for Diagnosis.- Histopathological Diagnosis of Muscular Dystrophies.- Serum Creatine Kinase in Progressive Muscular Dystrophies.- The molecular approach.- Deletion and Duplication Analysis in Males Affected with Duchenne or Becker Muscular Dystrophy.- Point Mutation Detection in the Dystrophin Gene.- DNA-Based Techniques for Detection of Carriers of Duchenne and Becker Muscular Dystrophy.- Fluorescence In Situ Hybridization Analysis for Carrier Detection in Duchenne/Becker Muscular Dystrophy.- DNA- Based Prenatal Diagnosis for Duchenne and Becker Muscular Dystrophy.- Molecular Diagnosis and Genetic Counseling of the Manifesting Carrier of Duchenne Muscular Dystrophy.- Mutation Analysis of X-Linked Emery-Dreifuss Muscular Dystrophy Gene.- Analysis of LAMA2 Gene in Merosin- Deficient Congenital Dystrophy.- ?-Sarcoglycan Mutations.- Mutation Detection in ?- and ?-Sarcoglycan (LGMD2E and LGMD2C).- Mutation Analysis in ?-Sarcoglycan (LGMD2F).- Molecular Diagnosis of Calpainopathies.- Molecular Investigation of LGMD2B-Haplotype Analysis and Mutation Screening.- Molecular Analysis of Facioscapulohumeral Muscular Dystrophy (FSHD1).- Protein Analysis in the Muscular Dystrophies.- Analysis of Protein Expression in Muscular Dystrophies.- Immunological Reagents and Amplification Systems.- Immunocytochemical Analysis.- Multiplex Western Blot Analysis of Muscular Dystrophy Proteins.- Fetal Muscle Biopsy.- Use of Animal Models to Understand Human Muscular Dystrophy.- Options for Development of Gene-Based Therapy for Muscular Dystrophy.