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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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| 出版年: | Orphanet J Rare Dis |
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| 主要な著者: | , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BioMed Central
2015
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| 主題: | |
| オンライン･アクセス: | 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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