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MRI and localized proton MRS in early infantile form of neuronal ceroid-lipofuscinosis

✍ Scribed by Confort-Gouny, Sylviane; Chabrol, Brigitte; Vion-Dury, Jean; Mancini, Josette; Cozzone, Patrick J.

Book ID
123424562
Publisher
Elsevier Science
Year
1993
Tongue
English
Weight
460 KB
Volume
9
Category
Article
ISSN
0887-8994

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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