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Titel:

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

Dokumenttyp:
Journal Article; Article
Autor(en):
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...     »
Zeitschriftentitel:
J Neurol
Jahr:
2004
Band / Volume:
251
Heft / Issue:
2
Seitenangaben Beitrag:
143-9
Sprache:
eng
Volltext / DOI:
doi:10.1007/s00415-004-0289-3
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/14991347
Print-ISSN:
0340-5354
TUM Einrichtung:
Poliklinik für Präventive und Rehabilitative Sportmedizin
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