rs199476138
ATP6;COX3;ND3;ND4;ND4L
Leigh Disease
0.810
GeneticVariation
BEFREE
The MT-ATP6 m.9185T>C p.Leu220Pro mutation, previously associated with Leigh syndrome , was present in all family members, while the MT-TL1 m.3271T>C mutation, a known cause of MELAS syndrome, was observed in the sole patient with MELAS presentation.
24153443 2013
rs199476112
×
Entrez Id: 4538;4540
Gene Symbol: ND4;ND5
ND4;ND5
Optic Atrophy, Hereditary, Leber
0.810
GeneticVariation
BEFREE
Here we report the case of a five year old girl who presented with clinical and neuroradiological findings reminiscent of Leigh syndrome but carried a mtDNA mutation m.11778G>A (p.R340H ) in the MTND4 gene usually observed in patients with LHON .
21414825 2011
rs199476138
ATP6;COX3;ND3;ND4;ND4L
Leigh Disease
C
0.810
CausalMutation
CLINVAR
Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 gene.
18461509 2007
rs199476138
ATP6;COX3;ND3;ND4;ND4L
Leigh Disease
0.810
GeneticVariation
UNIPROT
Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA.
17352390 2007
rs199476138
ATP6;COX3;ND3;ND4;ND4L
Leigh Disease
C
0.810
CausalMutation
CLINVAR
Two new mutations in the MTATP6 gene associated with Leigh syndrome.
16217706 2005
rs199476112
×
Entrez Id: 4538;4540
Gene Symbol: ND4;ND5
ND4;ND5
Optic Atrophy, Hereditary, Leber
0.810
GeneticVariation
UNIPROT
Leber's hereditary optic neuropathy in Indonesia: two families with the mtDNA 11778G>A and 14484T>C mutations.
9452107 1998
rs199476138
ATP6;COX3;ND3;ND4;ND4L
Leigh Disease
0.810
GeneticVariation
UNIPROT
Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene.
9501263 1998
rs199476138
ATP6;COX3;ND3;ND4;ND4L
Leigh Disease
0.810
GeneticVariation
UNIPROT
De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome.
9556461 1998
rs199476138
ATP6;COX3;ND3;ND4;ND4L
Leigh Disease
0.810
GeneticVariation
UNIPROT
Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA.
9270604 1997
rs199476138
ATP6;COX3;ND3;ND4;ND4L
Leigh Disease
0.810
GeneticVariation
UNIPROT
A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome.
8395787 1993
rs199476112
×
Entrez Id: 4538;4540
Gene Symbol: ND4;ND5
ND4;ND5
Optic Atrophy, Hereditary, Leber
A
0.810
CausalMutation
CLINVAR
Mitochondrial DNA mutation in an Italian family with Leber hereditary optic neuropathy.
1937476 1991
rs199476112
×
Entrez Id: 4538;4540
Gene Symbol: ND4;ND5
ND4;ND5
Optic Atrophy, Hereditary, Leber
0.810
GeneticVariation
UNIPROT
Electron transfer properties of NADH:ubiquinone reductase in the ND13460 and the ND411778 mutations of the Leber hereditary optic neuroretinopathy (LHON).
1959619 1991
rs199476112
×
Entrez Id: 4538;4540
Gene Symbol: ND4;ND5
ND4;ND5
Optic Atrophy, Hereditary, Leber
0.810
GeneticVariation
UNIPROT
Detection of the G to A mitochondrial DNA mutation at position 11778 in German families with Leber's hereditary optic neuropathy.
1959931 1991
rs199476112
×
Entrez Id: 4538;4540
Gene Symbol: ND4;ND5
ND4;ND5
Optic Atrophy, Hereditary, Leber
A
0.810
CausalMutation
CLINVAR
Electron transfer properties of NADH:ubiquinone reductase in the ND13460 and the ND411778 mutations of the Leber hereditary optic neuroretinopathy (LHON).
1959619 1991
rs199476112
×
Entrez Id: 4538;4540
Gene Symbol: ND4;ND5
ND4;ND5
Optic Atrophy, Hereditary, Leber
0.810
GeneticVariation
UNIPROT
Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.
3201231 1988
rs199476117
COX3;ND3;ND4;ND4L
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
0.800
GeneticVariation
UNIPROT
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
20818383 2010
rs267606890
COX3;ND3;ND4;ND4L
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
0.800
GeneticVariation
UNIPROT
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
20818383 2010
rs267606891
COX3;ND3;ND4;ND4L
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
0.800
GeneticVariation
UNIPROT
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
20818383 2010
rs267606891
COX3;ND3;ND4;ND4L
Leigh Disease
A
0.800
CausalMutation
CLINVAR
Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia.
19458970 2009
rs199476133
ATP6;ATP8;COX3;ND3;ND4;ND4L
Leigh Disease
0.800
GeneticVariation
UNIPROT
Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA.
17352390 2007
rs199476133
ATP6;ATP8;COX3;ND3;ND4;ND4L
ATAXIA AND POLYNEUROPATHY, ADULT-ONSET
0.800
GeneticVariation
UNIPROT
Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation.
18055910 2007
rs199476133
ATP6;ATP8;COX3;ND3;ND4;ND4L
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1
0.800
GeneticVariation
UNIPROT
Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation.
18055910 2007
rs199476135
ATP6;COX3;ND3;ND4;ND4L
Leigh Disease
0.800
GeneticVariation
UNIPROT
Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA.
17352390 2007
rs267606891
COX3;ND3;ND4;ND4L
Leigh Disease
0.800
GeneticVariation
UNIPROT
A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia.
17152068 2007
rs267606891
COX3;ND3;ND4;ND4L
Leigh Disease
A
0.800
CausalMutation
CLINVAR
A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia.
17152068 2007