alexa Genetic basis and phenotypic correlations of the neuronal ceroid lipofusinoses.
Pediatrics

Pediatrics

Journal of Neonatal Biology

Author(s): Warrier V, Vieira M, Mole SE

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Abstract The 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. This article was published in Biochim Biophys Acta and referenced in Journal of Neonatal Biology

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