Condition: MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1


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.

rs199476117 in ND3;ND4;ND4L;COX3 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 20818383 2010 High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.

PMID 11456298 2001 Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene.

rs267606891 in ND4;COX3;ND3;ND4L gene and MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1 PMID 20818383 2010 High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.

PMID 11456298 2001 Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene.

PMID 14705112 2004 De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency.