|
MELAS Syndrome
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
Novel mutations m.3959G>A and m.3995A>G in mitochondrial gene MT-ND1 associated with MELAS.
|
23834081 |
2014 |
|
MELAS Syndrome
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Homoplasmy of a mitochondrial 3697G>A mutation causes Leigh syndrome.
|
24830958 |
2014 |
|
MELAS Syndrome
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Identification of novel mutations in five patients with mitochondrial encephalomyopathy.
|
18977334 |
2009 |
|
MELAS Syndrome
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Progressive encephalopathy and complex I deficiency associated with mutations in MTND1.
|
18504678 |
2008 |
|
MELAS Syndrome
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy.
|
17535832 |
2007 |
|
MELAS Syndrome
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia.
|
17562939 |
2007 |
|
MELAS Syndrome
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Mitochondrial dysfunction in Stüve-Wiedemann syndrome in a patient carrying an ND1 gene mutation.
|
16969869 |
2006 |
|
MELAS Syndrome
|
0.740 |
GermlineCausalMutation
|
disease |
ORPHANET |
LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation.
|
15657614 |
2005 |
|
MELAS Syndrome
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
Here we report the first heteroplasmic mitochondrial DNA (mtDNA) point mutation (3376G>A) in the MTND1 gene associated with an overlap syndrome comprising the clinical features of both LHON and MELAS.
|
15657614 |
2005 |
|
MELAS Syndrome
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Mutations of the mitochondrial ND1 gene as a cause of MELAS.
|
15466014 |
2004 |
|
MELAS Syndrome
|
0.740 |
GeneticVariation
|
disease |
LHGDN |
Mutations of the mitochondrial ND1 gene as a cause of MELAS.
|
15466014 |
2004 |
|
MELAS Syndrome
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
Bilateral striatal necrosis and MELAS associated with a new T3308C mutation in the mitochondrial ND1 gene.
|
9299504 |
1997 |
|
MELAS Syndrome
|
0.740 |
GeneticVariation
|
disease |
UNIPROT |
A novel combination of mitochondrial tRNA and ND1 gene mutations in a syndrome with MELAS, cardiomyopathy, and diabetes mellitus.
|
8723687 |
1996 |
|
MELAS Syndrome
|
0.740 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Optic Atrophy, Hereditary, Leber
|
0.700 |
Biomarker
|
disease |
CTD_human |
Food derived respiratory complex I inhibitors modify the effect of Leber hereditary optic neuropathy mutations.
|
29991444 |
2018 |
|
Optic Atrophy, Hereditary, Leber
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We report a proband with Leber hereditary optic neuropathy (LHON), in whom we have identified a novel homoplasmic m.3,395A>G mutation in the ND1 gene.
|
28139165 |
2017 |
|
Optic Atrophy, Hereditary, Leber
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Here, we report a novel homoplasmic mutation in the MT-ND1 gene (m.3634A>G, p.Ser110Gly) in a patient with the classical clinical features of LHON syndrome.
|
27613247 |
2017 |
|
Optic Atrophy, Hereditary, Leber
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
These data demonstrated that the MT-ND1 gene is a hot spot for mutations associated with LHON.
|
27177320 |
2016 |
|
Optic Atrophy, Hereditary, Leber
|
0.700 |
Biomarker
|
disease |
CTD_human |
In this study, we describe the homoplasmic nucleotide substitution m.3472T>C in the MT-ND1 (NADH-ubiquinone oxidoreductase chain 1) gene and specific changes in cell metabolism in a patient with LHON and his asymptomatic sister.
|
27449621 |
2016 |
|
Optic Atrophy, Hereditary, Leber
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
These include the severe mutation in the tRNALys gene, m.8363G>A, and the three milder yet prevalent Leber's hereditary optic neuropathy (LHON) mutations in the MT-ND1 (m.3460G>A), MT-ND4 (m.11778G>A) and MT-ND6 (m.14484T>C) mitochondrial genes.
|
25909222 |
2015 |
|
Optic Atrophy, Hereditary, Leber
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A mutational screening of ND1 gene in a cohort of 1070 Han Chinese subjects LHON identified the m.3635G>A mutation in nine Chinese families with suggestively maternally transmitted LHON.
|
25194554 |
2014 |
|
Optic Atrophy, Hereditary, Leber
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
New MT-ND1 pathologic mutation for Leber hereditary optic neuropathy.
|
24800637 |
2014 |
|
Optic Atrophy, Hereditary, Leber
|
0.700 |
Biomarker
|
disease |
CTD_human |
Cell therapy using retinal progenitor cells shows therapeutic effect in a chemically-induced rotenone mouse model of Leber hereditary optic neuropathy.
|
24569607 |
2014 |
|
Optic Atrophy, Hereditary, Leber
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Leber's hereditary optic neuropathy caused by the homoplasmic ND1 m.3635G>A mutation in nine Han Chinese families.
|
25194554 |
2014 |
|
Optic Atrophy, Hereditary, Leber
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This case widens the phenotypic expression of the rare m.4171C>A/MT-ND1 LHON mutation, which may also lead to Leigh-like brainstem lesions, and indicates that the co-occurrence of other ND non-synonymous variants, found outside of their usual mtDNA backgrounds, may have increased the pathogenic potential of the primary LHON mutation.
|
24884847 |
2014 |