New spastic paraplegia phenotype associated to mutation of NFU1

Recently an early onset lethal encephalopathy has been described in relation to mutations of NFU1, one of the genes involved in iron-sulfur cluster metabolism. We report a new NFU1 mutated patient presenting with a milder phenotype characterized by a later onset, a slowly progressive spastic parapar...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Tonduti, Davide, Dorboz, Imen, Imbard, Apolline, Slama, Abdelhamid, Boutron, Audrey, Pichard, Samia, Elmaleh, Monique, Vallée, Louis, Benoist, Jean François, Ogier, Heléne, Boespflug-Tanguy, Odile
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2015
Assuntos:
Letter to the Editor
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4333890/
https://ncbi.nlm.nih.gov/pubmed/25758857
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-015-0237-6
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