Article
Abnormal morphology of peripheral cell tissues from patients with Huntington disease.
Journal of neural transmission (Vienna, Austria : 1996) - 1 Jan 2010
Squitieri Ferdinando, Falleni Alessandra, Cannella Milena, Orobello Sara, Fulceri Federica, Lenzi Paola, Fornai Francesco
Abstract excerpt
We investigated the genotype-dependency of morphological abnormalities in peripheral cells from Huntington disease (HD) patients. Cell cultures derived from skin and muscle biopsies showed a different set of abnormalities depending on the genotype (i.e. heterozygous and homozygous for CAG mutations) and the tissue (i.e. fibroblasts and myoblasts). In general, homozygotes' cell lines showed massive ultrastructural...
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