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Duygu Selcen, M.D.
![]() Duygu Selcen, M.D.
Location:
Minnesota
SummaryMyofibrillar 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. 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. Recent publicationsEducation
Fellowship
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Neuromuscular/Muscle Disease
Fellowship
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Electrophysiology
Residency
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Pediatrics
Fellowship
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Pediatric Neurology
Residency
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Pediatrics
M.D.
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