Article
The clinical phenotype of early-onset isolated dystonia caused by recessive COL6A3 mutations (DYT27).
Movement disorders : official journal of the Movement Disorder Society - 1 May 2016
Jochim Angela, Zech Michael, Gora-Stahlberg Gina, Winkelmann Juliane, Haslinger Bernhard
Abstract excerpt
BACKGROUND AND PURPOSE: 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. METHODS: A total of 5 recessive COL6A3 mutation carriers underwent clinical examinations, and case histories were recorded on videotape. RESULTS:...
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