Article
An autosomal dominant ataxia maps to 19q13: Allelic heterogeneity of SCA13 or novel locus?
Neurology - 11 Oct 2005
Waters M F, Fee D, Figueroa K P, Nolte D, Müller U, Advincula J, Coon H, Evidente V G, Pulst S M
Abstract excerpt
The autosomal dominant spinocerebellar ataxias (ADCAs) represent a growing and heterogeneous disease phenotype. Clinical characterization of a three-generation Filipino family segregating a dominant ataxia revealed cerebellar signs and symptoms. After elimination of known spinocerebellar ataxia (SCA) loci, a genome-wide linkage scan revealed a disease locus in a 4-cM region of 19q13, with a 3.89 lod score. This...
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