Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis.

作者信息

Lal Dennis, Becker Kerstin, Motameny Susanne, Altmüller Janine, Thiele Holger, Nürnberg Peter, Ahting Uwe, Rolinski Boris, Neubauer Bernd A, Hahn Andreas

出版信息

Neurogenetics. 2013 Feb;14(1):85-7. doi: 10.1007/s10048-013-0355-z. Epub 2013 Jan 20.

DOI:10.1007/s10048-013-0355-z

PMID:23334465

Abstract

摘要

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Ann Neurol. 2009 Sep;66(3):419-24. doi: 10.1002/ana.21752.

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Neurology. 2002 Oct 8;59(7):983-9. doi: 10.1212/wnl.59.7.983.

Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency.线粒体复合物I缺乏症中核基因NDUFV1和NDUFS1的大规模缺失和点突变。

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