Article
A novel duplication confirms the involvement of 5q23.2 in autosomal dominant leukodystrophy.
Archives of neurology - 1 Nov 2008
Meijer Inge A, Simoes-Lopes Ana A, Laurent Sandra, Katz Tanya, St-Onge Judith, Verlaan Dominique J, Dupré Nicolas, Thibault Manon, Mathurin Johanne, Bouchard Jean-Pierre, Rouleau Guy A
Abstract excerpt
OBJECTIVE: To identify the underlying locus and disease-causing mutation for adult-onset autosomal dominant leukodystrophy (ADLD). DESIGN: Previously, an adult-onset ADLD locus on chromosome 5q23 was mapped between markers D5S1495 and CTT/CCT15. This region contains 13 known and putative candidate genes. A 2-point linkage analysis confirmed linkage of a large multigenerational French Canadian family to chromosome...
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