Article
A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome.
Movement disorders : official journal of the Movement Disorder Society - 1 Feb 2015
Johnson Janel O, Stevanin Giovanni, van de Leemput Joyce, Hernandez Dena G, Arepalli Sampath, Forlani Sylvie, Zonozi Reza, Gibbs J Raphael, Brice Alexis, Durr Alexandra, Singleton Andrew B
Abstract excerpt
BACKGROUND: The autosomal dominant spinocerebellar ataxias are most commonly caused by nucleotide repeat expansions followed by base-pair changes in functionally important genes. Structural variation has recently been shown to underlie spinocerebellar ataxia types 15 and 20. METHODS: We applied s...
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