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Title:

Recessive mutations in the ?3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.

Document type:
Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Article
Author(s):
Zech, Michael; Lam, Daniel D; Francescatto, Ludmila; Schormair, Barbara; Salminen, Aaro V; Jochim, Angela; Wieland, Thomas; Lichtner, Peter; Peters, Annette; Gieger, Christian; Lochmüller, Hanns; Strom, Tim M; Haslinger, Bernhard; Katsanis, Nicholas; Winkelmann, Juliane
Abstract:
Isolated dystonia is a disorder characterized by involuntary twisting postures arising from sustained muscle contractions. Although autosomal-dominant mutations in TOR1A, THAP1, and GNAL have been found in some cases, the molecular mechanisms underlying isolated dystonia are largely unknown. In addition, although emphasis has been placed on dominant isolated dystonia, the disorder is also transmitted as a recessive trait, for which no mutations have been defined. Using whole-exome sequencing in...     »
Journal title abbreviation:
Am J Hum Genet
Year:
2015
Journal volume:
96
Journal issue:
6
Pages contribution:
883-93
Language:
eng
Fulltext / DOI:
doi:10.1016/j.ajhg.2015.04.010
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/26004199
Print-ISSN:
0002-9297
TUM Institution:
Institut für Humangenetik; Lehrstuhl für Neurogenetik (Prof. Winkelmann); Neurologische Klinik und Poliklinik
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