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ataxia of Charlevoix-Saguenay


Definition: an autosomal recessive, slowly progressive spastic ataxia of childhood onset, due to a gene mutation on chromosome 13.

[Saguenay-Lac-St. Jean and Charlevoix, isolated regions in northeastern Quebec to which the gene pool of the disease is limited]

Further information

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.