CLINICAL AND MOLECULAR ANALYSIS OF NEUROMUSCULAR DISEASE

这个子项目是许多研究子项目中的一个 由NIH/NCRR资助的中心赠款提供的资源。子项目和 研究者（PI）可能从另一个NIH来源获得了主要资金， 因此可以在其他CRISP条目中表示。所列机构为 研究中心，而研究中心不一定是研究者所在的机构。 我们正在进行候选基因突变搜索，以及在足够大的家庭中建立遗传位点的连锁研究。目的是1）鉴定导致人类神经肌肉疾病的基因突变，2）将这些突变与患有这些疾病的患者的肌肉和其他受影响组织中的特定生化和病理变化相关联，总体目标是了解神经肌肉疾病的病理生理学

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. We are conducting candidate gene mutation searches as well as linkage studies in families sufficiently large to establish genetic loci. Objectives are to 1) identify genetic mutations responsible for human neuromuscular disease, 2) correlate these mutations with specific biochemical and pathological changes in the muscles and other affected tissues of patients with these diseases with the overall goal being to understand the pathophysiology of neuromuscular disease