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Titel:

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

Dokumenttyp:
Journal Article; Article
Autor(en):
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...     »
Zeitschriftentitel:
Mov Disord
Jahr:
2016
Band / Volume:
31
Heft / Issue:
5
Seitenangaben Beitrag:
747-50
Sprache:
eng
Volltext / DOI:
doi:10.1002/mds.26501
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/26687111
Print-ISSN:
0885-3185
TUM Einrichtung:
Lehrstuhl für Neurogenetik (Prof. Winkelmann); Neurologische Klinik und Poliklinik
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