Article
Huntington disease-like 2: the first patient with apparent European ancestry.
Clinical genetics - 1 May 2008
Santos C, Wanderley H, Vedolin L, Pena S D J, Jardim L, Sequeiros J
Abstract excerpt
Huntington disease-like 2 (HDL2) is a rare autosomal dominant disorder of the nervous system, apparently indistinguishable from Huntington disease (HD). HDL2 is caused by the expansion above 40 CTG/CAG repeats, in a variably spliced exon of the junctophilin-3 gene, on chromosome 16q24.3. All patients described so far have been of African ancestry. A clinical evaluation, including the Unified Huntington's Disease...
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