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Title:

A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desmin.

Document type:
Journal Article; Article
Author(s):
Dagvadorj, A; Olivé, M; Urtizberea, JA; Halle, M; Shatunov, A; Bönnemann, C; Park, KY; Goebel, HH; Ferrer, I; Vicart, P; Dalakas, MC; Goldfarb, LG
Abstract:
Desminopathy is a familial or sporadic cardiac and skeletal muscular dystrophy associated with mutations in desmin. We have previously characterized a de novo desmin R406W mutation in a patient of European origin with early onset muscle weakness in the lower extremities and atrioventricular conduction block requiring a permanent pacemaker. The disease relentlessly progressed resulting in severe incapacity within 5 years after onset. We have now identified three other patients with early onset ra...     »
Journal title abbreviation:
J Neurol
Year:
2004
Journal volume:
251
Journal issue:
2
Pages contribution:
143-9
Language:
eng
Fulltext / DOI:
doi:10.1007/s00415-004-0289-3
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/14991347
Print-ISSN:
0340-5354
TUM Institution:
Poliklinik für Präventive und Rehabilitative Sportmedizin
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