Article
Expression of the inclusion body myopathy 3 mutation in Drosophila depresses myosin function and stability and recapitulates muscle inclusions and weakness.
Molecular biology of the cell - 1 Jun 2012
Wang Yang, Melkani Girish C, Suggs Jennifer A, Melkani Anju, Kronert William A, Cammarato Anthony, Bernstein Sanford I
Abstract excerpt
Hereditary myosin myopathies are characterized by variable clinical features. Inclusion body myopathy 3 (IBM-3) is an autosomal dominant disease associated with a missense mutation (E706K) in the myosin heavy chain IIa gene. Adult patients experience progressive muscle weakness. Biopsies reveal dystrophic changes, rimmed vacuoles with cytoplasmic inclusions, and focal disorganization of myofilaments. We...
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