Leigh Disease
|
0.490 |
GeneticVariation
|
disease |
BEFREE |
Transition from Leigh syndrome to MELAS syndrome in a patient with heteroplasmic MT-ND3 m.10158T>C.
|
31178082 |
2019 |
Leigh Disease
|
0.490 |
GeneticVariation
|
disease |
BEFREE |
The m.10191T>C mutation in the mitochondrial DNA gene encoding in the respiratory chain complex I (CI) subunit of MTND3 results in the substitution of a highly conserved amino acid (p.Ser45Pro) within the ND3 protein, leading to CI dysfunction and causing a broad clinical spectrum of disorders that includes LS.
|
31105631 |
2019 |
Leigh Disease
|
0.490 |
GeneticVariation
|
disease |
BEFREE |
Analysis of low-coverage off-target mitochondrial reads revealed a previously unreported mitochondrial mutation in the proband in MT-ND3 (m.10134C>A, p.Q26K), a Complex I mitochondrial gene previously associated with LS.
|
25118196 |
2014 |
Leigh Disease
|
0.490 |
GeneticVariation
|
disease |
BEFREE |
Long survival in patients with leigh syndrome and the m.10191T>C mutation in MT-ND3 : a case report and review of the literature.
|
24284231 |
2014 |
Leigh Disease
|
0.490 |
CausalMutation
|
disease |
CLINVAR |
Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient.
|
25118196 |
2014 |
Leigh Disease
|
0.490 |
CausalMutation
|
disease |
CLINVAR |
Leigh disease presenting in utero due to a novel missense mutation in the mitochondrial DNA-ND3.
|
20202874 |
2010 |
Leigh Disease
|
0.490 |
GeneticVariation
|
disease |
BEFREE |
These findings suggest that the clinical presentations associated with the mtND3*10197A (m.10197G>A) mutation (ND3) are much wider, encompassing those of LDYT and Leigh syndrome.
|
19458970 |
2009 |
Leigh Disease
|
0.490 |
CausalMutation
|
disease |
CLINVAR |
Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia.
|
19458970 |
2009 |
Leigh Disease
|
0.490 |
CausalMutation
|
disease |
CLINVAR |
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 |
Leigh Disease
|
0.490 |
GeneticVariation
|
disease |
LHGDN |
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 |
Leigh Disease
|
0.490 |
GeneticVariation
|
disease |
BEFREE |
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 |
Leigh Disease
|
0.490 |
CausalMutation
|
disease |
CLINVAR |
Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy.
|
17535832 |
2007 |
Leigh Disease
|
0.490 |
GeneticVariation
|
disease |
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 |
Leigh Disease
|
0.490 |
GeneticVariation
|
disease |
BEFREE |
The 10191T>C mutation in MTND3 and the 14487T>C mutation in MTND6 were present in two probands with Leigh's-like and Leigh's syndrome, respectively.
|
16044424 |
2005 |
Leigh Disease
|
0.490 |
GeneticVariation
|
disease |
BEFREE |
Fulminant neurological deterioration in a neonate with Leigh syndrome due to a maternally transmitted missense mutation in the mitochondrial ND3 gene.
|
16023078 |
2005 |
Leigh Disease
|
0.490 |
GeneticVariation
|
disease |
LHGDN |
Fulminant neurological deterioration in a neonate with Leigh syndrome due to a maternally transmitted missense mutation in the mitochondrial ND3 gene.
|
16023078 |
2005 |
Leigh Disease
|
0.490 |
CausalMutation
|
disease |
CLINVAR |
Fulminant neurological deterioration in a neonate with Leigh syndrome due to a maternally transmitted missense mutation in the mitochondrial ND3 gene.
|
16023078 |
2005 |
Leigh Disease
|
0.490 |
CausalMutation
|
disease |
CLINVAR |
Clinical and molecular findings in children with complex I deficiency.
|
15576045 |
2004 |
Leigh Disease
|
0.490 |
GeneticVariation
|
disease |
LHGDN |
This is the first description of a mitochondrial ND3 gene in Leigh syndrome with early lethality.
|
14764913 |
2004 |
Leigh Disease
|
0.490 |
Biomarker
|
disease |
BEFREE |
This is the first description of a mitochondrial ND3 gene in Leigh syndrome with early lethality.
|
14764913 |
2004 |
Leigh Disease
|
0.490 |
CausalMutation
|
disease |
CLINVAR |
De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency.
|
14705112 |
2004 |
Leigh Disease
|
0.490 |
CausalMutation
|
disease |
CLINVAR |
This is the first description of a mitochondrial ND3 gene in Leigh syndrome with early lethality.
|
14764913 |
2004 |
Leigh Disease
|
0.490 |
CausalMutation
|
disease |
CLINVAR |
Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency.
|
14684687 |
2003 |
Leigh Disease
|
0.490 |
CausalMutation
|
disease |
CLINVAR |
Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene.
|
11456298 |
2001 |