Article
The p.Asp216His TOR1A allele effect is not found in the French population.
Movement disorders : official journal of the Movement Disorder Society - 30 Apr 2009
Frédéric Mélissa Yana, Clot Fabienne, Blanchard Arnaud, Dhaenens Claire-Marie, Lesca Gaëtan, Cif Laura, Dürr Alexandra, Vidailhet Marie, Sablonniere Bernard, Calender Alain, Martinez Maria, Molinari Nicolas, Brice Alexis, Claustres Mireille, Tuffery-Giraud Sylvie, Collod-Beroud Gwenaëlle
Abstract excerpt
DYT1 dystonia are one of the exceptions in human genetics with its unique and recurrent mutation (c.907delGAG). In this rare movement disorder, the mutation is associated with incomplete penetrance as well as great clinical variability, making this disease a benchmark to search for genetic modifiers. Recently, Risch et al. have demonstrated the implication of the rs1801968 SNP in disease penetrance. We attempted...
Topics
- Alleles
- Aspartic Acid
- DNA Mutational Analysis
- Dystonic Disorders
- France
- Gene Frequency
- Histidine