present in Gene: NDUFS4
present in Chromosome: 5
Position on Chromosome: 53603451
Alleles of this Variant: G/A
rs376281345 in
NDUFS4 gene and
Leigh Disease
PMID 12616398 2003 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.
PMID 19107570 2008 A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family.
PMID 20818383 2010 High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.