Abstract
In desmin myopathy but not hereditary inclusion-body myopathy (hIBM), there is accumulation of myofibrillar proteins including desmin, myotilin, dystrophin, gelsolin, actin, and CDC kinase. To assess the cause of protein excess, we studied the genes coding the accumulated proteins in desmin myopathy, hIBM, and controls. No differences were found among them. In desmin myopathy, protein accumulation is not due to upregulation of genes triggered by mutant desmin, but rather to posttranslational disassembly of intermediate filaments.
Original language | English (US) |
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Pages (from-to) | 386-388 |
Number of pages | 3 |
Journal | Muscle and Nerve |
Volume | 35 |
Issue number | 3 |
DOIs | |
State | Published - Mar 2007 |
Externally published | Yes |
Keywords
- Desmin myopathy
- Inclusion-body myopathy
- Microarray
- Protein accumulation
- Protein-surplus myopathy
ASJC Scopus subject areas
- Physiology
- Clinical Neurology
- Cellular and Molecular Neuroscience
- Physiology (medical)