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Dokumenttyp:
journal article 
Autor(en):
Jochim, Angela; Zech, Michael; Gora-Stahlberg, Gina; Winkelmann, Juliane; Haslinger, Bernhard 
Titel:
The clinical phenotype of early-onset isolated dystonia caused by recessive COL6A3 mutations (DYT27). 
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:
Seitenangaben Beitrag:
747-50 
Sprache:
eng 
Print-ISSN:
0885-3185 
TUM Einrichtung:
Neurologische Klinik und Poliklinik; Lehrstuhl für Neurogenetik