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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Orphanet J Rare Dis
Päätekijät: Tonduti, Davide, Dorboz, Imen, Imbard, Apolline, Slama, Abdelhamid, Boutron, Audrey, Pichard, Samia, Elmaleh, Monique, Vallée, Louis, Benoist, Jean François, Ogier, Heléne, Boespflug-Tanguy, Odile
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BioMed Central 2015
Aiheet:
Letter to the Editor
Linkit: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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