Clinical features of neurodegeneration with brain iron accumulation due to a C19orf12 gene mutation

GoldmanJ.G.; EichenseerS.R.; Berry-KravisE.; ZimnowodzkiS.; GregoryA.; HogarthP.; HayflickS.J.

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Clinical features of neurodegeneration with brain iron accumulation due to a C19orf12 gene mutation

机译：C19orf12基因突变导致脑退铁性神经变性的临床特征

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Neurodegeneration with brain iron accumulation (NBIA) comprises a heterogeneous group of genetic disorders. A novel subtype, mitochondrial membrane protein-associated neurodegeneration (MPAN), caused by mutations of chromosome 19 open reading frame 12 (c19orf12), recently has been described. We report a patient with gene-proven MPAN, showcasing the clinical presentation of this new NBIA disorder.

机译：具有脑铁积聚的神经退行性变（NBIA）包括一组异质性遗传疾病。最近描述了一种新的亚型，线粒体膜蛋白相关的神经变性（MPAN），它是由19号染色体开放阅读框12（c19orf12）的突变引起的。我们报告了一名基因验证的MPAN患者，展示了这种新的NBIA疾病的临床表现。

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《Movement disorders》 |2013年第10期|共2页
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GoldmanJ.G.; EichenseerS.R.; Berry-KravisE.; ZimnowodzkiS.; GregoryA.; HogarthP.; HayflickS.J.;
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正文语种 eng
中图分类神经病学;
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1. Clinical features of neurodegeneration with brain iron accumulation due to a C19orf12 gene mutation [J] . GoldmanJ.G., EichenseerS.R., Berry-KravisE., Movement disorders . 2013,第10期

机译：C19orf12基因突变导致脑退铁性神经变性的临床特征
2. PANK2 and C19orf12 mutations are common causes of neurodegeneration with brain iron accumulation [J] . DezfouliM.A., AlaviA., RohaniM., Movement disorders . 2013,第2期

机译：PANK2和C19orf12突变是脑铁积聚导致神经退行性变的常见原因
3. PANK2 and C19orf12 mutations are common causes of neurodegeneration with brain iron accumulation [J] . DezfouliM.A., AlaviA., RohaniM., Movement disorders . 2013,第2期

机译：PAMP2和C19ORF12突变是脑铁累积的神经变性的常见原因
4. The Characterization of Fe Concretions in the Human Brain Exhibiting Neuro-degeneration with Brain Iron Accumulation (NBIA) [C] . John McCarthy, Susan Hayflick, Alex Buxbaum Microscopy and microanalysis.;Microscopy and microanalysis. . -1

机译：表现为人脑中铁变性（NBIA）的神经退行性病变中的铁含量的表征
5. Identifying candidate genes for a mutation that suppresses neurodegeneration in the Drosophila model of Leigh syndrome [D] . Quach, Quang 2012

机译：在李氏综合征果蝇模型中鉴定抑制神经变性的突变的候选基因
6. Absence of an Orphan Mitochondrial Protein C19orf12 Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation [O] . Monika B. Hartig, Arcangela Iuso, Tobias Haack, 2011

机译：孤儿线粒体蛋白C19orf12的缺乏导致脑退行性疾病与神经退行性疾病的临床亚型不同。
7. Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation [O] . Hartig, Monika B., Iuso, Arcangela, Haack, Tobias, 2011

机译：孤儿线粒体蛋白C19orf12的缺乏导致脑退行性疾病与神经退行性疾病的临床亚型不同。

Clinical features of neurodegeneration with brain iron accumulation due to a C19orf12 gene mutation

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