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Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum

✍ Scribed by Matthis Synofzik, Anne S Soehn, Janina Gburek-Augustat…

Book ID: 120697100
Publisher: BioMed Central
Year: 2013
Tongue: English
Weight: 442 KB
Volume: 8
Category: Article
ISSN: 1750-1172
DOI: 10.1186/1750-1172-8-41

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Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a disorder that has an elevated frequency in Saguenay-Lac-St-Jean (SLSJ) and Charlevoix, two geographically isolated regions in the past of northeastern Quebec. The incidence at birth and the carrier rate in SLSJ were estimated at

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