Expression of the inclusion body myopathy 3 mutation in Drosophila depresses myosin function and stability and recapitulates muscle inclusions and weakness

@inproceedings{Wang2012ExpressionOT,
  title={Expression of the inclusion body myopathy 3 mutation in Drosophila depresses myosin function and stability and recapitulates muscle inclusions and weakness},
  author={Yang Wang and Girish C Melkani and Jennifer A. Suggs and Anju Melkani and William A. Kronert and Anthony Cammarato and Sanford I Bernstein},
  booktitle={Molecular biology of the cell},
  year={2012}
}
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 constructed a transgene encoding E706K myosin and expressed it in Drosophila (E701K… CONTINUE READING

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