×
Entrez Id:
4508
Gene Symbol:
ATP6
ATP6
Leigh Disease
0.500
GeneticVariation
UNIPROT
A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome.
8395787
1993
×
Entrez Id:
6389
Gene Symbol:
SDHA
SDHA
Leigh Disease
0.730
GeneticVariation
UNIPROT
Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency.
7550341
1995
×
Entrez Id:
4508
Gene Symbol:
ATP6
ATP6
Leigh Disease
0.500
GeneticVariation
UNIPROT
These data confirm the association of the T9176C mutation with LS and extend the clinical heterogeneity of mutations in the ATPase 6 gene.
9270604
1997
×
Entrez Id:
6834
Gene Symbol:
SURF1
SURF1
Leigh Disease
1.000
GeneticVariation
UNIPROT
SURF1 , encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome .
9843204
1998
×
Entrez Id:
4508
Gene Symbol:
ATP6
ATP6
Leigh Disease
0.500
GeneticVariation
UNIPROT
De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome.
9556461
1998
×
Entrez Id:
4508
Gene Symbol:
ATP6
ATP6
Leigh Disease
0.500
GeneticVariation
UNIPROT
Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene.
9501263
1998
×
Entrez Id:
6834
Gene Symbol:
SURF1
SURF1
Leigh Disease
1.000
GeneticVariation
UNIPROT
We identified two novel mutations of SURF1 in a Japanese LS patient with COX deficiency using direct sequencing analysis.
10647889
1999
×
Entrez Id:
6834
Gene Symbol:
SURF1
SURF1
Leigh Disease
1.000
GeneticVariation
UNIPROT
Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients.
10746561
2000
×
Entrez Id:
6389
Gene Symbol:
SDHA
SDHA
Leigh Disease
0.730
GeneticVariation
UNIPROT
Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome.
10746566
2000
×
Entrez Id:
6834
Gene Symbol:
SURF1
SURF1
Leigh Disease
1.000
GeneticVariation
UNIPROT
Our study confirms the recent observations that SURF1 is consistently involved in disorders of the mitochondrial respiratory chain in patients with typical Leigh syndrome .
14564068
2001
×
Entrez Id:
4540
Gene Symbol:
ND5
ND5
Leigh Disease
0.470
GeneticVariation
UNIPROT
Leigh disease associated with a novel mitochondrial DNA ND5 mutation.
11938446
2002
×
Entrez Id:
4540
Gene Symbol:
ND5
ND5
Leigh Disease
0.470
GeneticVariation
UNIPROT
A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome.
12796552
2003
×
Entrez Id:
4541
Gene Symbol:
ND6
ND6
Leigh Disease
0.470
GeneticVariation
UNIPROT
Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene.
14595656
2003
×
Entrez Id:
1355
Gene Symbol:
COX15
COX15
Leigh Disease
0.740
GeneticVariation
UNIPROT
Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome .
15235026
2004
×
Entrez Id:
1355
Gene Symbol:
COX15
COX15
Leigh Disease
0.740
GeneticVariation
UNIPROT
Only two COX15 mutated patients, one with severe neonatal cardiomyopathy, the other with rapidly fatal Leigh syndrome , have been described to date.
15863660
2005
×
Entrez Id:
4508
Gene Symbol:
ATP6
ATP6
Leigh Disease
0.500
GeneticVariation
UNIPROT
A T-to-C missense mutation at nucleotide position 9,185 in the protein-coding ATP6 gene of the mitochondrial genome was present at high heteroplasmy in members of a Canadian family with Leigh syndrome with predominant ataxia and peripheral neuropathy.
17352390
2007
×
Entrez Id:
4537
Gene Symbol:
ND3
ND3
Leigh Disease
0.490
GeneticVariation
UNIPROT
These results show that the 10197G>A mutation in the mitochondrial ND3 gene should be considered as a common mtDNA mutation responsible for LS and dystonia.
17152068
2007
×
Entrez Id:
4540
Gene Symbol:
ND5
ND5
Leigh Disease
0.470
GeneticVariation
UNIPROT
Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease.
17400793
2007
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Leigh Disease
0.330
GeneticVariation
UNIPROT
Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.
18828154
2009
×
Entrez Id:
6834
Gene Symbol:
SURF1
SURF1
Leigh Disease
1.000
GeneticVariation
UNIPROT
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
21937992
2011
×
Entrez Id:
6834
Gene Symbol:
SURF1
SURF1
Leigh Disease
1.000
GeneticVariation
UNIPROT
Although mutations in SURF1 have been mainly associated with typical LS , five of the patients in this report had an atypical course of LS .
22488715
2012
×
Entrez Id:
6834
Gene Symbol:
SURF1
SURF1
Leigh Disease
1.000
GeneticVariation
UNIPROT
For patients with Leigh syndrome showing these facial dysmorphism and hypertrichosis, sequence analysis of the SURF1 gene may be useful.
22410471
2012
×
Entrez Id:
6389
Gene Symbol:
SDHA
SDHA
Leigh Disease
0.730
GeneticVariation
UNIPROT
Here, we characterize four patients with isolated complex II deficiency caused by mutations in SDHA presenting with multisystem mitochondrial disease including Leigh syndrome (LS ) and/or leukodystrophy.
24781757
2015
×
Entrez Id:
9997
Gene Symbol:
SCO2
SCO2
Leigh Disease
0.540
GeneticVariation
UNIPROT
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
26741492
2016