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Novel CLN1 mutation in two Italian sibs with late infantile neuronal ceroid lipofuscinosis

✍ Scribed by Maria Bonsignore; Alessandra Tessa; Gabriella Di Rosa; Fiorella Piemonte; Carlo Dionisi-Vici; Alessandro Simonati; Filippo Calamoneri; Gaetano Tortorella; Filippo M. Santorelli


Book ID
113590114
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
173 KB
Volume
10
Category
Article
ISSN
1090-3798

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The neuronal ceroid lipofuscinoses (NCLs) are a group of autosomal recessive neurodegenerative diseases of childhood. CLN6, the gene mutated in variant late infantile NCL (vLINCL), was recently cloned. We report the identification of eight further mutations in CLN6 making a total of 18 reported muta

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The late-infantile-onset forms of neuronal ceroid lipofuscinosis (LINCL) are the most genetically heterogeneous group among the autosomal recessive neuronal ceroid lipofuscinoses (NCLs), with causative mutations found in CLN1, CLN2, CLN5, CLN6, CLN7 (MFSD8), and CLN8 genes. Homozygous mutations in C