Core--Muscle Biopsy/Cell Culture/ Diagnostics

肌肉组织/细胞培养/诊断核心这个井石肌营养不良症合作研究中心是一个多方面的实验室，将是一个地方和国家资源的肌营养不良症研究。核心有两个主要目标。首先，核心将使用大约4000个现有存储的骨骼肌活检样本来建立肌肉组织库。在现有的肌肉活检中，有600多个肌营养不良样本，包括肌营养不良蛋白病（杜氏和贝克尔肌营养不良），肢带肌营养不良和先天性肌营养不良。我们将从各种来源收集新的标本：诊断性肌肉活检、治疗性外科手术、肌内膜活检、心脏移植、皮肤活检和尸检。除了 这些组织，我们将建立成纤维细胞和成肌细胞系诊断肌肉和皮肤活检。将招募患有遗传性肌营养不良症的患者进行活检，以保持广泛代表性的肌营养不良症诊断谱。来自核心的良好表征的组织和细胞将提供给来自其他中心的研究人员。核心的第二个目标是建立诊断资源。在这方面，它将提供临床实验室不容易提供的诊断服务，它将促进新的诊断测试的开发，以转移到临床实验室，并将作为进行临床试验的研究人员的干预后活检评价资源。核心将保持患者的机密性，所有测试将进行质量控制，以满足CLIA许可标准。因此，肌肉组织/细胞培养/诊断核心将建立肌营养不良组织和细胞培养的重要资源，在扩大具有特定分子诊断的患者数量方面提供关键的诊断链接，并作为肌营养不良患者临床试验的国家活检测试资源。

The Muscle Tissue/Cell Culture/Diagnostics Core for this Wellstone Muscular Dystrophy Cooperative Research Center is a multifaceted laboratory that will be both a local and a national resource for muscular dystrophy research. There are two major goals of the Core. First, the Core will use approximately 4000 existing stored skeletal muscle biopsies to establish a muscle tissue repository. Among the existing muscle biopsies are more than 600 muscular dystrophy samples that include dystrophinopathies (Duchenne and Becker muscular dystrophy), limb-girdle muscular dystrophies, and congenital muscular dystrophies. We will accrue new specimens into the Core from a variety of sources: diagnostic muscle biopsies, therapeutic surgical procedures, endomyocardial biopsies, heart explants, skin biopsies, and autopsies. In addition to these tissues, we will establish fibroblast and myoblast cell lines from diagnostic muscle and skin biopsies. Patients with genetically defined muscular dystrophies will be recruited to undergo biopsies in order to maintain a widely representative spectrum of muscular dystrophy diagnoses. Well characterized tissues and cells from the Core will be made available to research investigators from other centers. The second goal of the Core is to establish a diagnostic resource. In this capacity it will provide diagnostic services that are not readily available through clinical laboratories, it will facilitate development of new diagnostic tests for transfer to the clinical laboratory, and will serve as a post-intervention biopsy evaluation resource for investigators conducting clinical trials. The Core will maintain patient confidentiality, and all testing will be quality controlled to meet CLIA licensing standards. Thus, the Muscle Tissue/Cell Culture/Diagnostics Core will establish a vital resource of muscular dystrophy tissues and cell cultures, provide a critical diagnostic link in expanding the number of patients with specific, molecular diagnoses, and serve as a national biopsy testing resource for clinical trials in muscular dystrophy patients.