Gene: COX3
Alternate names for this Gene:
Gene Summary:
Gene is located in Chromosome:
Location in Chromosome :
Description of this Gene:
Type of Gene:
Gene: ND4
Alternate names for this Gene:
Gene Summary:
Gene is located in Chromosome:
Location in Chromosome :
Description of this Gene:
Type of Gene:
Gene: ND3
Alternate names for this Gene:
Gene Summary:
Gene is located in Chromosome:
Location in Chromosome :
Description of this Gene:
Type of Gene:
Gene: ND4L
Alternate names for this Gene:
Gene Summary:
Gene is located in Chromosome:
Location in Chromosome :
Description of this Gene:
Type of Gene:
rs267606890 in
COX3;ND4;ND3;ND4L gene and
Leigh Disease
PMID 15576045 2004 Clinical and molecular findings in children with complex I deficiency.
PMID 17535832 2007 Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy.
PMID 14684687 2003 Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency.
PMID 11456298 2001 Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene.
PMID 14764913 2004 A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality.
PMID 14705112 2004 De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency.
rs267606890 in
COX3;ND4;ND3;ND4L gene and
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
PMID 14705112 2004 De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency.
PMID 11456298 2001 Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene.
PMID 20818383 2010 High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.