Journal article icon

Journal article

Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c-terminal alpha-helical segment.

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

Actions


Access Document


Publisher copy:
10.1002/mus.10370

Authors


Dagvadorj, A More by this author
Goudeau, B More by this author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Neurosciences
Blancato, JK More by this author
Shatunov, A More by this author
Expand authors...
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

Terms of use


Metrics



If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP