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Lynch syndrome in Tunisia: first description of clinical features and germline mutations

✍ Scribed by Sana Aissi-Ben Moussa; Amel Moussa; Nadia Kourda; Amel Mezlini; Nabil Abdelli; Farid Zerimech; Taoufik Najjar; Sarah Ben Jilani; Nicole Porchet; Farhat Ben Ayed; Mohamed Manai; Marie-Pierre Buisine


Book ID
106060184
Publisher
Springer
Year
2011
Tongue
English
Weight
307 KB
Volume
26
Category
Article
ISSN
0179-1958

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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