Leigh Disease
|
0.470 |
GeneticVariation
|
disease |
BEFREE |
The child was found to have a variant in the MT-ND6 gene (m.14484T>C), most commonly associated with Leber hereditary optic neuropathy, despite a phenotype more closely resembling Leigh syndrome.
|
31129100 |
2019 |
Leigh Disease
|
0.470 |
GeneticVariation
|
disease |
BEFREE |
We report on the first PGD performed for the m.14487 T>C mitochondrial DNA (mtDNA) mutation in the MT-ND6 gene, associated with Leigh syndrome.
|
28122886 |
2017 |
Leigh Disease
|
0.470 |
GeneticVariation
|
disease |
BEFREE |
MTND5 and MTND6 genes were identified as 'hotspots' of mutations, with Leigh syndrome accounting for the large majority of associated phenotypes.
|
23847141 |
2013 |
Leigh Disease
|
0.470 |
GeneticVariation
|
disease |
BEFREE |
We describe a case of severe infantile-onset complex I deficiency in association with an apparent de novo near-homoplasmic mutation (m.14487T>C) in the mitochondrial ND6 gene, which was previously associated with Leigh syndrome and other neurological disorders.
|
23813926 |
2013 |
Leigh Disease
|
0.470 |
Biomarker
|
disease |
BEFREE |
We sequenced the encoded complex I units: ND2, ND3, ND4, ND5 and ND6 genes and the mitochondrial ATPase 6, tRNA(Val), tRNA(Leu(UUR)), tRNA(Trp) and tRNA(Lys) genes in 10 unrelated patients with Leigh syndrome.
|
19349200 |
2009 |
Leigh Disease
|
0.470 |
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
|
0.470 |
CausalMutation
|
disease |
CLINVAR |
Free radicals-mediated damage in transmitochondrial cells harboring the T14487C mutation in the ND6 gene of mtDNA.
|
16337195 |
2005 |
Leigh Disease
|
0.470 |
CausalMutation
|
disease |
CLINVAR |
Clinical and molecular findings in children with complex I deficiency.
|
15576045 |
2004 |
Leigh Disease
|
0.470 |
CausalMutation
|
disease |
CLINVAR |
Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency.
|
14684687 |
2003 |
Leigh Disease
|
0.470 |
GeneticVariation
|
disease |
BEFREE |
Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene.
|
14595656 |
2003 |
Leigh Disease
|
0.470 |
CausalMutation
|
disease |
CLINVAR |
Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene.
|
14595656 |
2003 |
Leigh Disease
|
0.470 |
GeneticVariation
|
disease |
UNIPROT |
Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene.
|
14595656 |
2003 |
Leigh Disease
|
0.470 |
CausalMutation
|
disease |
CLINVAR |
Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy.
|
12205655 |
2002 |
Leigh Disease
|
0.470 |
GeneticVariation
|
disease |
CLINVAR |
An mtDNA mutation, 14453G-->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome.
|
11781695 |
2001 |
Leigh Disease
|
0.470 |
CausalMutation
|
disease |
CLINVAR |
Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families.
|
10894222 |
2000 |
Leigh Disease
|
0.470 |
CausalMutation
|
disease |
CLINVAR |
Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia.
|
8622678 |
1996 |
Leigh Disease
|
0.470 |
CausalMutation
|
disease |
CLINVAR |
A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia.
|
8016139 |
1994 |