MITOCHONDRIAL COMPLEX I DEFICIENCY
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Outcome of epilepsy in patients with mitochondrial disorders: Phenotype genotype and magnetic resonance imaging correlations.
|
29272804 |
2018 |
Leigh Disease
|
0.320 |
Biomarker
|
disease |
CLINGEN |
In the present case, magnetic resonance imaging (MRI) obtained during infancy revealed symmetric lesions in the substantia nigra of a patient with Leigh syndrome with an NDUFA1 mutation; lesions of the bilateral putamen and brainstem were subsequently observed.
|
29506883 |
2018 |
Leigh Disease
|
0.320 |
GeneticVariation
|
disease |
BEFREE |
In the present case, magnetic resonance imaging (MRI) obtained during infancy revealed symmetric lesions in the substantia nigra of a patient with Leigh syndrome with an NDUFA1 mutation; lesions of the bilateral putamen and brainstem were subsequently observed.
|
29506883 |
2018 |
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Leigh syndrome with spinal cord involvement due to a hemizygous NDUFA1 mutation.
|
29506883 |
2018 |
Leigh Syndrome Due To Mitochondrial Complex II Deficiency
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Leigh syndrome with spinal cord involvement due to a hemizygous NDUFA1 mutation.
|
29506883 |
2018 |
Leigh Syndrome due to Mitochondrial Complex III Deficiency
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Leigh syndrome with spinal cord involvement due to a hemizygous NDUFA1 mutation.
|
29506883 |
2018 |
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Leigh syndrome with spinal cord involvement due to a hemizygous NDUFA1 mutation.
|
29506883 |
2018 |
Leigh Syndrome due to Mitochondrial Complex V Deficiency
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Leigh syndrome with spinal cord involvement due to a hemizygous NDUFA1 mutation.
|
29506883 |
2018 |
Necrotizing encephalopathy, infantile subacute, of Leigh
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Leigh syndrome with spinal cord involvement due to a hemizygous NDUFA1 mutation.
|
29506883 |
2018 |
Myoclonic Epilepsy
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
The phenotypes & genotypes included Mitochondrial Encephalopathy Lactic Acidosis and Stroke like episodes (MELAS) & m.3243A>G mutation (n = 10), Myoclonic Epilepsy Ragged Red Fiber syndrome (MERRF) & m.8344A>G mutation (n = 4), Chronic Progressive External Ophthalmoplegia plus &POLG1 mutation (CPEO, n = 6), episodic neuroregression due to nuclear mutations (n = 6; NDUFV1 (n = 3), NDUFA1, NDUFS2, MPV17-1 one each), and one patient with infantile basal ganglia stroke syndrome, mineralizing angiopathy &MT-ND5 mutations.
|
29272804 |
2018 |
Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes (MELAS syndrome)
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
The phenotypes & genotypes included Mitochondrial Encephalopathy Lactic Acidosis and Stroke like episodes (MELAS) & m.3243A>G mutation (n = 10), Myoclonic Epilepsy Ragged Red Fiber syndrome (MERRF) & m.8344A>G mutation (n = 4), Chronic Progressive External Ophthalmoplegia plus &POLG1 mutation (CPEO, n = 6), episodic neuroregression due to nuclear mutations (n = 6; NDUFV1 (n = 3), NDUFA1, NDUFS2, MPV17-1 one each), and one patient with infantile basal ganglia stroke syndrome, mineralizing angiopathy &MT-ND5 mutations.
|
29272804 |
2018 |
spinal cord involvement
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Leigh syndrome with spinal cord involvement due to a hemizygous NDUFA1 mutation.
|
29506883 |
2018 |
MITOCHONDRIAL COMPLEX I DEFICIENCY
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation.
|
28247337 |
2017 |
MITOCHONDRIAL COMPLEX I DEFICIENCY
|
0.700 |
Biomarker
|
disease |
MGD |
An X-chromosome linked mouse model (Ndufa1S55A) for systemic partial Complex I deficiency for studying predisposition to neurodegeneration and other diseases.
|
28506826 |
2017 |
Mitochondrial Diseases
|
0.330 |
Biomarker
|
group |
BEFREE |
Two of these are X-chromosome linked nuclear (nDNA) genes (NDUFA1 and NDUFB11), and 7 are mitochondrial (mtDNA, MT-ND1-6, -4L) genes, which may be responsible for sex-dependent variation in the presentation of mitochondrial diseases.
|
28506826 |
2017 |
Leigh Disease
|
0.320 |
Biomarker
|
disease |
CLINGEN |
Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients.
|
28429146 |
2017 |
Leigh Disease
|
0.320 |
Biomarker
|
disease |
CLINGEN |
An X-chromosome linked mouse model (Ndufa1S55A) for systemic partial Complex I deficiency for studying predisposition to neurodegeneration and other diseases.
|
28506826 |
2017 |
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients.
|
28429146 |
2017 |
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
|
0.300 |
Biomarker
|
disease |
CLINGEN |
An X-chromosome linked mouse model (Ndufa1S55A) for systemic partial Complex I deficiency for studying predisposition to neurodegeneration and other diseases.
|
28506826 |
2017 |
Leigh Syndrome Due To Mitochondrial Complex II Deficiency
|
0.300 |
Biomarker
|
disease |
CLINGEN |
An X-chromosome linked mouse model (Ndufa1S55A) for systemic partial Complex I deficiency for studying predisposition to neurodegeneration and other diseases.
|
28506826 |
2017 |
Leigh Syndrome Due To Mitochondrial Complex II Deficiency
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients.
|
28429146 |
2017 |
Leigh Syndrome due to Mitochondrial Complex III Deficiency
|
0.300 |
Biomarker
|
disease |
CLINGEN |
An X-chromosome linked mouse model (Ndufa1S55A) for systemic partial Complex I deficiency for studying predisposition to neurodegeneration and other diseases.
|
28506826 |
2017 |
Leigh Syndrome due to Mitochondrial Complex III Deficiency
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients.
|
28429146 |
2017 |
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients.
|
28429146 |
2017 |
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
|
0.300 |
Biomarker
|
disease |
CLINGEN |
An X-chromosome linked mouse model (Ndufa1S55A) for systemic partial Complex I deficiency for studying predisposition to neurodegeneration and other diseases.
|
28506826 |
2017 |