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Clinical Features of Fatal Familial Insomnia: Phenotypic Variability in Relation to a Polymorphism at Codon 129 of the Prion Protein Gene

Fatal Familial Insomnia is a hereditary prion disease characterized by a mutation at codon 178 of the prion protein gene cosegregating with the methionine polymorphism at codon 129 of the mutated allele. It is characterized by disturbances of the wake‐sleep cycle, dysautonomia and somatomotor manife...

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Detalhes bibliográficos
Publicado no:Brain Pathol
Main Authors: Montagna, Pasquale, Cortelli, Pietro, Avoni, Patrizia, Tinuper, Paolo, Plazzi, Giuseppe, Gallassi, Roberto, Portaluppi, Francesco, Julien, Jean, Vital, Claude, Delisle, Marie Bernadette, Gambetti, Pierluigi, Lugaresi, Elio
Formato: Artigo
Idioma:Inglês
Publicado em: Blackwell Publishing Ltd 2006
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8098256/
https://ncbi.nlm.nih.gov/pubmed/9669701
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1750-3639.1998.tb00172.x
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