Rochester, Minnesota 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.


Primary Appointment

  1. Department of Pediatric and Adolescent Medicine
  2. Department of Neurology

Academic Rank

  1. Professor of Neurology
  2. Professor of Pediatrics


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

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