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Title:

The clinical phenotype of early-onset isolated dystonia caused by recessive COL6A3 mutations (DYT27).

Document type:
Journal Article; Article
Author(s):
Jochim, Angela; Zech, Michael; Gora-Stahlberg, Gina; Winkelmann, Juliane; Haslinger, Bernhard
Abstract:
We recently identified mutations in the a3 (VI) collagen gene COL6A3 that cause autosomal-recessive isolated dystonia (DYT27). This article gives a detailed description of the clinical phenotype associated with this new type of dystonia.A total of 5 recessive COL6A3 mutation carriers underwent clinical examinations, and case histories were recorded on videotape.Biallelic COL6A3 mutations cause isolated dystonia with interindividual heterogeneity of distribution and severity. Dystonia was general...     »
Journal title abbreviation:
Mov Disord
Year:
2016
Journal volume:
31
Journal issue:
5
Pages contribution:
747-50
Language:
eng
Fulltext / DOI:
doi:10.1002/mds.26501
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/26687111
Print-ISSN:
0885-3185
TUM Institution:
Lehrstuhl für Neurogenetik (Prof. Winkelmann); Neurologische Klinik und Poliklinik
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