Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6.

doi:10.1016/j.bbrc.2008.12.159

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Article

Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6.

Biochemical and biophysical research communications - 20 Feb 2009

Cannelli Natalia, Garavaglia Barbara, Simonati Alessandro, Aiello Chiara, Barzaghi Chiara, Pezzini Francesco, Cilio Maria Roberta, Biancheri Roberta, Morbin Michela, Dalla Bernardina Bernardo, Granata Tiziana, Tessa Alessandra, Invernizzi Federica, Pessagno Alice, Boldrini Renata, Zibordi Federica, Grazian Luisa, Claps Dianela, Carrozzo Rosalba, Mole Sara E, Nardocci Nardo, Santorelli Filippo M

Abstract excerpt

The neuronal ceroid lipofuscinoses (NCL) are heterogeneous neurodegenerative disorders with typical autofluorescence material stored in tissues. Ten clinical NCL forms and eight causative genes are known. Mutations in CLN6 have been reported in roughly 30 patients, mostly in association with the variant late-infantile NCL (v-LINCL) phenotype. We screened CLN6 in 30 children from a cohort of 53 v-LINCL cases and...

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Identifiers

PMID: 19135028
DOI: 10.1016/j.bbrc.2008.12.159

Genes

CLN6
NCL

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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