Article
Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.
Human mutation - 1 Mar 2009
Aiello Chiara, Terracciano Alessandra, Simonati Alessandro, Discepoli Giancarlo, Cannelli Natalia, Claps Dianela, Crow Yanick J, Bianchi Marzia, Kitzmuller Claudia, Longo Daniela, Tavoni Antonietta, Franzoni Emilio, Tessa Alessandra, Veneselli Edwige, Boldrini Renata, Filocamo Mirella, Williams Ruth E, Bertini Enrico S, Biancheri Roberta, Carrozzo Rosalba, Mole Sara E, Santorelli Filippo M
Abstract excerpt
The neuronal ceroid lipofuscinoses (NCL) are a group of genetically heterogeneous neurodegenerative disorders. The recent identification of the MFSD8/CLN7 gene in a variant-late infantile form of NCL (v-LINCL) in affected children from Turkey prompted us to examine the relative frequency of variants in this gene in Italian patients with v-LINCL. We identified nine children harboring 11 different mutations in...
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