Muscular Dystrophy:Methods and Protocols

图书简介

The term ?muscular dystrophy? (MD) describes a group of primary genetic disorders of muscle that often have a distinctive and recognizable clinical p- notype, accompanied by characteristic, but frequently not pathognomonic, pathological features. Research into the molecular basis of the MDs by a c- bination of positional cloning and candidate gene analysis has provided the basis for a reclassification of these disorders, with genetic and protein data augmenting traditional clinically based nomenclature. These findings have brought insights into the molecular pathogenesis of MD, with an increasing number of potential pathways involved in arriving at a dystrophic phenotype. Some common themes can be recognized, however, including the involvement of five members of the dystrophin-associated complex (dystrophin and four sarcoglycans) in different types of MD, and the involvement of two nuclear envelope proteins in producing an Emery-Dreifuss MD phenotype. Other d- ease-associated genes appear to cause MD in a completely unrelated way, such as the involvement of calpain 3 in a form of limb-girdle muscular dystrophy. Section 1 of Muscular Dystrophy: Methods and Protocols reviews tra- tional strategies used to identify MDs. Meantime, techniques developed as a result of the research strategies described previously have become an integral part of the management of many patients with MD and their families, and these techniques are addressed in Sections 2 (DNA-based tests) and 3 (p- tein-based analyses). The continued effort to translate this enhanced und- standing into a molecular cure or treatment for MD is reviewed in Section 4.

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.

Trade Policy 买家须知

关于产品：
● 正版保障：本网站隶属于中国国际图书贸易集团公司，确保所有图书都是100%正版。
● 环保纸张：进口图书大多使用的都是环保轻型张，颜色偏黄，重量比较轻。
● 毛边版：即书翻页的地方，故意做成了参差不齐的样子，一般为精装版，更具收藏价值。
关于退换货：
由于预订产品的特殊性，采购订单正式发订后，买方不得无故取消全部或部分产品的订购。
由于进口图书的特殊性，发生以下情况的，请直接拒收货物，由快递返回：
● 外包装破损/发错货/少发货/图书外观破损/图书配件不全（例如：光盘等）
并请在工作日通过电话400-008-1110联系我们。
签收后，如发生以下情况，请在签收后的5个工作日内联系客服办理退换货：
● 缺页/错页/错印/脱线
关于发货时间：
一般情况下：
●【现货】下单后48小时内由北京（库房）发出快递。
●【预订】【预售】下单后国外发货，到货时间预计5-8周左右，店铺默认中通快递，如需顺丰快递邮费到付。
● 需要开具发票的客户，发货时间可能在上述基础上再延后1-2个工作日（紧急发票需求，请联系010-68433105/3213）；
● 如遇其他特殊原因，对发货时间有影响的，我们会第一时间在网站公告，敬请留意。
关于到货时间：
由于进口图书入境入库后，都是委托第三方快递发货，所以我们只能保证在规定时间内发出，但无法为您保证确切的到货时间。
● 主要城市一般2-4天
● 偏远地区一般4-7天
关于接听咨询电话的时间：
010-68433105/3213正常接听咨询电话的时间为：周一至周五上午8：30～下午5：00，周六、日及法定节假日休息，将无法接听来电，敬请谅解。
其它时间您也可以通过邮件联系我们：customer@readgo.cn,工作日会优先处理。
关于快递：
● 已付款订单：主要由中通、宅急送负责派送，订单进度查询请拨打010-68433105/3213。

Muscular Dystrophy:Methods and Protocols（Methods in Molecular Medicine） 神经病学

Muscular Dystrophy:Methods and Protocols（Methods in Molecular Medicine）
神经病学