User: Guest  Login
Document type:
journal 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 
Title:
A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desmin. 
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:
Pages contribution:
143-9 
Language:
eng 
Print-ISSN:
0340-5354 
TUM Institution:
ventive und rehabilitative Sportmedizin