Core--Clinical

我们正在请求支持临床核心单位，以协调从四个项目中研究的疾病患者中获取急需的组织标本（血液样本、肌肉活检、皮肤和肌肉培养物、死后肌肉、大脑和脊髓）：线粒体神经胃肠脑肌病（MNGIE）、肌萎缩侧索硬化症（ALS）和细胞色素c氧化酶（考克斯）缺乏症。该中心多年来一直是诊断神经肌肉疾病的主要转诊中心，包括肌营养不良症，运动神经元疾病和线粒体脑肌病。临床中心的研究者将 参与患者的身份确认、准确的临床和科学检查，以及收集足够的样本。

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.