Condition: MITOCHONDRIAL COMPLEX I DEFICIENCY


rs398124308 in FOXRED1 gene and MITOCHONDRIAL COMPLEX I DEFICIENCY PMID 22200994 2012 Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.

rs752513525 in NDUFA13 gene and MITOCHONDRIAL COMPLEX I DEFICIENCY PMID 25901006 2015 Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability.

rs137852863 in NDUFAF2 gene and MITOCHONDRIAL COMPLEX I DEFICIENCY PMID 16200211 2005 A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

rs757043077 in NDUFAF5 gene and MITOCHONDRIAL COMPLEX I DEFICIENCY PMID 21607760 2012 Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7.

rs150667550 in NDUFS2 gene and MITOCHONDRIAL COMPLEX I DEFICIENCY PMID 20819849 2010 The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families.

PMID 24215330 2013 Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity.

rs121913659 in NDUFV1 gene and MITOCHONDRIAL COMPLEX I DEFICIENCY PMID 26345448 2015 Characterization of clinically identified mutations in NDUFV1, the flavin-binding subunit of respiratory complex I, using a yeast model system.

PMID 10080174 1999 Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy.

PMID 23562761 2013 A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations.

PMID 19073330 2008 Siblings with leukoencephalopathy.

rs201430951 in NUBPL gene and MITOCHONDRIAL COMPLEX I DEFICIENCY PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

rs1555703272 in SLC25A10 gene and MITOCHONDRIAL COMPLEX I DEFICIENCY PMID 29211846 2018 SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency.