Core--Clinical

点击翻译按钮获取中文摘要

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.