- Abstract:
-
Mutations in desmin gene have been identified in patients with cardiac and skeletal myopathy characterized by intracytoplasmic accumulation of desmin-reactive deposits and electron-dense granular aggregates. We characterized two new desminopathy families with unusual features of adult-onset, slowly progressive, diffuse skeletal myopathy and respiratory insufficiency. Progressive reduction of respiratory muscle strength became clinically detectable between the 3rd and the 8th years of illness ...
Expand abstract - Publication status:
- Published
- Publisher copy:
- 10.1002/mus.10370
-
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- Journal:
- Muscle and nerve
- Volume:
- 27
- Issue:
- 6
- Pages:
- 669-675
- Publication date:
- 2003-06-05
- DOI:
- EISSN:
-
1097-4598
- ISSN:
-
0148-639X
- URN:
-
uuid:b4eb305e-5da2-4ac2-90dd-68ad9e0306a3
- Source identifiers:
-
241908
- Local pid:
- pubs:241908
- Language:
- English
- Keywords:
- Copyright date:
- 2003
Journal article
Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c-terminal alpha-helical segment.
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