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MRI and MRS Findings in a Patient with Infantile Neuronal Ceroid Lipofuscinosis

✍ Scribed by Xiaoqi Ding; Zoltan Lukacs; Thomas Kucinski; Oliver Wittkugel; Dirk Kilian; Wanja Weisz; Alfried Kohlschütter; Hermann Zeumer


Publisher
Springer
Year
2004
Tongue
German
Weight
615 KB
Volume
14
Category
Article
ISSN
1869-1439

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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