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Biochim. Biophys. Acta · Nov 2013
ReviewGenetic basis and phenotypic correlations of the neuronal ceroid lipofusinoses.
- Varun Warrier, Mariana Vieira, and Sara E Mole.
- Division of Biosciences, University College London, Gower Street, London WC1E 6BT, UK.
- Biochim. Biophys. Acta. 2013 Nov 1;1832(11):1827-30.
AbstractThe neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders that mainly affect children and are grouped together by similar clinical features and the accumulation of autofluorescent storage material. More than a dozen genes containing nearly 400 mutations underlying human NCLs have been identified. Most of the mutations in these genes are associated with a typical disease phenotype, but some result in variable disease onset, severity and progression. There are still disease subgroups with unknown molecular genetic backgrounds. This article is part of a Special Issue entitled: The Neuronal Ceroid Lipofuscinoses or Batten Disease.Copyright © 2013 Elsevier B.V. All rights reserved.
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