Abstract
Accumulation of protein aggregates is a hallmark of several neurodegenerative disorders as well as for a number of protein conformation-based diseases, including those affecting muscle, liver and heart. Desminopathy or desminrelated myopathy (DRM) is a skeletal myopathy characterized by bilateral muscle weakness, but is often accompanied by cardiomyopathy as well. DRM can be caused by mutations in desmin, alphaB crystallin, myotilin, Z-band alternatively spliced PDZ-containing protein (ZASP), filamin C (FLNC) or Bcl-2-associated athanogene-3 (BAG3). The common pathological pattern in DRM is accumulation of misfolded proteins, however, clinical manifestations can differ significantly.
Original language | English (US) |
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Pages (from-to) | 665-666 |
Number of pages | 2 |
Journal | Autophagy |
Volume | 6 |
Issue number | 5 |
DOIs | |
State | Published - Jul 1 2010 |
Externally published | Yes |
Keywords
- Apoptosis
- Autophagy
- Cardiomyopathy
- Cell death
- Heart failure
- Protein misfolding
ASJC Scopus subject areas
- Molecular Biology
- Cell Biology