Core--Clinical

我们请求为临床核心单位提供支持，以协调从线粒体神经胃肠道脑肌病（MNGIE）、肌萎缩性侧索硬化症（ALS）和细胞色素c氧化酶（COX）缺乏症四个项目中研究的疾病患者中获取至关重要的组织标本（血液样本、肌肉活检、皮肤和肌肉培养、死后肌肉、脑和脊髓）。该中心利用了该中心的一大优势，该中心多年来一直是神经肌肉疾病诊断的主要转诊中心，包括肌肉营养不良症、运动神经元疾病和线粒体脑肌病。临床中心的研究人员会

We are requesting support for a Clinical Core Unit to coordinate the acquisition of crucially needed tissue specimens (blood samples, muscle biopsies, skin and muscle cultures, postmortem muscle, brain, and spinal cord) from patients with disorders studied in the four projects: mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), amyotrophic lateral sclerosis (ALS), and cytochrome c oxidase (COX) deficiency. This Core takes advantage of one of the great strengths of the Center, which has been for many years a major referral center for the diagnosis of neuromuscular disorders, including muscular dystrophies, motor neuron diseases, and mitochondrial encephalomyopathies. Investigators in the Clinical Core will participate in the identification of patients, their accurate clinical and scientific workup, and in the collection of adequate samples.