TRANSLATIONAL RESEARCH IN THE DYSTROPHINOPATHIES

该子项目是利用NIH/NCRR资助的中心赠款提供的资源的许多研究子项目之一。子项目和研究者（PI）可能从另一个NIH来源获得主要资金，因此可以在其他CRISP条目中表示。所列机构为中心，不一定是研究者所在机构。开发一个关于临床诊断为肌营养不良蛋白病的大型患者队列的信息登记和数据库，包括：肌营养不良蛋白基因突变;前瞻性和纵向收集的可靠表型信息;病程、治疗和反应的历史数据;每个家庭的联系信息，以及他们关于家属是否希望被告知患者有资格参加的临床试验的反应;关于来自患者的肌肉中肌营养不良蛋白表达的信息;为女性亲属提供携带者检测，这些女性亲属有携带抗肌萎缩蛋白基因突变的风险，年龄在18岁及以上，无症状;年龄小于18岁，有症状，以确认症状代表明显的携带者状态;为患者和携带者的家庭提供关于其突变状态的遗传咨询;建立一个肌营养不良蛋白基因多态性和突变的数据库，包括多态性的频率，供世界各地的研究人员使用。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. To develop a registry of and database of information regarding a large cohort of patients with clinically-diagnosed dystrophinopathies to include: dystrophingene mutation; reliable phenotypic information, gathered prospectively and longitudinally; historical data on disease course, treatment, and response; contact information for individual families, and their response as to whether or not the family wishes to be notified of clinical trials for which the patient is eligible; information on dystrophin protein expression in muscle from patients; to provide carrier testing to female relatives who are at risk of carrying a dystrophin gene mutation and are age 18 and greater who are asymptomatic; younger than age 18 and symptomatic, to confirm the symptoms as representing a manifesting carrier state; to provide genetic counseling to families of patients and carriers regarding their mutation status; to establish a database of dystrophin gene polymorphisms and mutations, including frequencies of polymorphisms, accessible to researchers worldwide.