A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-008-1049-9
Reference23 articles.
1. Benit P, Chretien D, Kadhom N, et al (2001) Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. Am J Hum Genet 68: 1344–1352. doi: 10.1086/320603 .
2. Benit P, Beugnot R, Chretien D, et al (2003a) Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy. Hum Mutat 21: 582–586. doi: 10.1002/humu.10225 .
3. Benit P, Steffann J, Lebon S, et al (2003b) Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt-1) in the NDUFS4 gene in Leigh syndrome. Hum Genet 112: 563–566.
4. Budde SM, van den Heuvel LP, Janssen AJ, et al (2000) Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene. Biochem Biophys Res Commun 275: 63–68. doi: 10.1006/bbrc.2000.3257 .
5. Carroll J, Fearnley IM, Shannon RJ, Hirst J, Walker JE (2003) Analysis of the subunit composition of complex I from bovine heart mitochondria. Mol Cell Proteomics 2: 117–126. doi: 10.1074/mcp.M300014-MCP200 .
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