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Novel Neuroimaging Finding in Palmitoyl Protein Thioesterase-1-Related Neuronal Ceroid Lipofuscinosis

✍ Scribed by Mahesh Kamate; Virupaxi Hattiholi


Book ID
116826094
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
394 KB
Volume
46
Category
Article
ISSN
0887-8994

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Identification of three novel mutations
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Eight unrelated children with progressive neurological deterioration and granular osmiophilic deposits (GROD) due to an underlying palmitoyl-protein thioesterase deficiency were analyzed for mutations in the PPT1 gene. Three novel mutations (G118D, Q291X and F84del) were identified. The novel Q291X