SUMMARY
My research interest is focused on muscular dystrophies and the diseases of the neuromuscular junction (myasthenia).
Among muscular dystrophies, I work specifically on myofibrillar and related congenital myopathies. The myofibrillar myopathies (MFMs) have a characteristic morphological signature: At the light microscopic and immunocytochemical level they are associated with progressive myofibrillar destruction and the deposition of composite protein aggregates that immunoreact for desmin, alphaB-crystallin, myotilin, dystrophin, CDC2 kinase, prion proteins, and other proteins as well.
At the ultrastructural level, the myofibrillar degeneration begins at the Z-disk. The elemental change is like that observed in minimulticore disease. The ultrastructural findings provide a clue that the MFMs are caused by mutations in Z-disk related proteins.
The investigation tests the hypothesis that mutations in Z-disk related proteins cause MFM and that appropriate expression studies can provide insights into the pathogenesis of the disease, and pave the way to treatment. Sofar mutations in desmin, alphaB-crystallin and in other key Z-disk-associated structural proteins, including myotilin, ZASP and Filamin C, have been detected in the MFM patients.
I recently pinpointed a severe childhood form of muscular dystrophy to Bag3.