A novel ferritin light chain mutation in neuroferritinopathy with an atypical presentation

Neuroferritinopathy or hereditary ferritinopathy is an inherited neurodegenerative disease caused by mutations in ferritin light chain (FTL) gene. The clinical features of the disease are highly variable, and include a movement disorder, behavioral abnormalities, and cognitive impairment. Neuropatho...

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Main Authors: Nishida, Katsuya, Garringer, Holly J., Futamura, Naonobu, Funakawa, Itaru, Jinnai, Kenji, Vidal, Ruben, Takao, Masaki
Formato: Artigo
Idioma:Inglês
Publicado: 2014
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4048789/
https://ncbi.nlm.nih.gov/pubmed/24825732
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jns.2014.03.060
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