Article
Diversity of ARSACS mutations in French-Canadians.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques - 1 Jan 2013
Thiffault I, Dicaire M J, Tetreault M, Huang K N, Demers-Lamarche J, Bernard G, Duquette A, Larivière R, Gehring K, Montpetit A, McPherson P S, Richter A, Montermini L, Mercier J, Mitchell G A, Dupré N, Prévost C, Bouchard J P, Mathieu J, Brais B
Abstract excerpt
BACKGROUND: The growing number of spastic ataxia of Charlevoix-Saguenay (SACS) gene mutations reported worldwide has broadened the clinical phenotype of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). The identification of Quebec ARSACS cases without two known SACS mutation led to the development of a multi-modal genomic strategy to uncover mutations in this large gene and explore phenotype...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.