Mechanism of muscle disease caused by contactin-1 mutation
This project is based on a collaboration with Dr. Kathryn North (University of Sydney). Dr. North identified several patients with an unusual muscle myopathy. Muscles from these patients showed normal dystrophin expression but had abnormal syntrophin and dystrobrevin expression. Together our labs were able to identify the gene responsible for this human disease as contactin-1 [ref paper]. This gene was mutated in these patients and the parents carried a mutated copy. We continue to study the muscle aspect of this disease using mice lacking contactin-1 (graciously provided to us by Dr. Barbara Ranscht, Burnham Institute, La Jolla,CA).

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