Article
A founder haplotype for autosomal dominant sensory ataxia in Eastern Canada.
Neurology - 26 Dec 2006
Valdmanis P N, Brunet D, St-Onge J, Weston L, Rouleau G A, Dupré N
Abstract excerpt
We present phenotypic and genotypic data for an additional family with autosomal dominant sensory ataxia, a disease characterized by gait difficulties associated with diminished sensation in the limbs and areflexia. The same disease haplotype spanning the entire SNAX1 locus is observed in affected members of this second family, enabling the locus to be reduced to a 7.3-cM interval.
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