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Neuroferritinopathy: a neurodegenerative disorder associated with L-ferritin mutation

✍ Scribed by Sonia Levi; Anna Cozzi; Paolo Arosio

Book ID
118229551
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
161 KB
Volume
18
Category
Article
ISSN
1521-6926

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## Abstract Neuroferritinopathy is a hereditary neurodegenerative disorder caused by mutations in the ferritin light chain gene (__FTL1__). The cardinal features are progressive movement disturbance, hypoferritinemia, and iron deposition in the brain. To date, five mutations have been described in