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lüll Genetic basis and phenotypic correlations of the neuronal ceroid lipofusinoses Warrier V; Vieira M; Mole SEBiochim Biophys Acta 2013[Nov]; 1832 (11): 1827-30The 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.|*Genetic Predisposition to Disease[MESH]|Humans[MESH]|Membrane Proteins/*genetics[MESH]|Mutation/*genetics[MESH]|Neuronal Ceroid-Lipofuscinoses/*genetics/*pathology[MESH]|Phenotype[MESH] |