CLINICAL AND MOLECULAR ANALYSIS OF NEUROMUSCULAR DISEASE

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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