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Desmin myopathy: Distinct filamentopathy caused by mutations in the desmin gene

Abstract:

Intermediate filaments are 10 nm structures that interact with actin and microtubules to form the cytoskeletal scaffolding of the cells. They share a common structure of a dimer with 2 alpha helical chains intertwined in a coiled-coil highly conserved rod structure. In the muscle, intermediate filaments constitute 1% of the total proteins and include lamin A/C, emerin, desmin, paranemin, nestin, vimentin, peripherin and possibly syncoilin. Together with various proteins associated with them, ...

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Institution:
University of Oxford
Division:
MSD
Department:
Clinical Neurosciences
Role:
Author
Journal:
Acta Myologica More from this journal
Volume:
21
Issue:
DEC.
Pages:
138-143
Publication date:
2002-12-01
ISSN:
1128-2460
Language:
English
Keywords:
Pubs id:
pubs:242536
UUID:
uuid:fb74b544-ac3f-47d7-bc08-9e53bb0305ae
Local pid:
pubs:242536
Source identifiers:
242536
Deposit date:
2012-12-19

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