Rochester, Minn Clinical Profile


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.


See my publications


Academic Rank

  1. Associate Professor of Neurology
  2. Associate Professor of Pediatrics


  1. Fellow - Neuromuscular/Muscle Disease Mayo Graduate School of Medicine, Mayo Clinic College of Medicine
  2. Fellow - Electrophysiology Children's Hospital of Michigan, Wayne State University
  3. Resident - Pediatrics Hurley Medical Center, College of Human Medicine, Michigan State University
  4. Fellow - Pediatric Neurology Children's Hospital of Michigan, Wayne State University
  5. Resident - Pediatrics Children's Hospital, Hacettepe University Medical School, Ankara
  6. MD Hacettepe University Medical School, Ankara

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