Leigh Disease
|
0.540 |
GeneticVariation
|
disease |
UNIPROT |
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
|
26741492 |
2016 |
Leigh Disease
|
0.540 |
GeneticVariation
|
disease |
BEFREE |
However, atypical clinical features were present in some patients, including normal liver function and Leigh syndrome (subacute necrotizing encephalomyelopathy) seen in association with TRMU mutations and no cardiomyopathy with founder SCO2 mutations.
|
25058219 |
2014 |
Leigh Disease
|
0.540 |
Biomarker
|
disease |
CLINGEN |
A novel mutation in the SCO2 gene in a neonate with early-onset cardioencephalomyopathy.
|
20159436 |
2010 |
Leigh Disease
|
0.540 |
Biomarker
|
disease |
CLINGEN |
Analysis of mouse models of cytochrome c oxidase deficiency owing to mutations in Sco2.
|
19837698 |
2010 |
Leigh Disease
|
0.540 |
Biomarker
|
disease |
CLINGEN |
Phenotypic consequences of a novel SCO2 gene mutation.
|
18924171 |
2008 |
Leigh Disease
|
0.540 |
Biomarker
|
disease |
CLINGEN |
Tissue-specific cytochrome c oxidase assembly defects due to mutations in SCO2 and SURF1.
|
16083427 |
2005 |
Leigh Disease
|
0.540 |
Biomarker
|
disease |
CLINGEN |
Human SCO1 and SCO2 have independent, cooperative functions in copper delivery to cytochrome c oxidase.
|
15229189 |
2004 |
Leigh Disease
|
0.540 |
GeneticVariation
|
disease |
BEFREE |
We report two novel pathogenic SURF1 mutations in a patient with Leigh syndrome and one novel SCO2 mutation in a patient with hypertrophic cardiomyopathy.
|
12538779 |
2003 |
Leigh Disease
|
0.540 |
Biomarker
|
disease |
CLINGEN |
Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy.
|
11673586 |
2001 |
Leigh Disease
|
0.540 |
Biomarker
|
disease |
BEFREE |
Mutations have, however, been identified in several COX assembly factors: SURF1 (Leigh Syndrome), SCO2 (hypertrophic cardiomyopathy), SCO1 (hepatic failure, ketoacidotic coma), and COX10 (encephalopathy, tubulopathy).
|
11579424 |
2001 |
Leigh Disease
|
0.540 |
GeneticVariation
|
disease |
BEFREE |
All of the patients with mutations in SURF-1 had Leigh syndrome, whereas the 3 patients with SCO2 mutations had a combination of encephalopathy and hypertrophic cardiomyopathy, and the neuropathology did not show the typical features of Leigh syndrome.
|
10805329 |
2000 |
Leigh Disease
|
0.540 |
Biomarker
|
disease |
CLINGEN |
The clinical phenotype caused by mutations in human SCO2 differs from that caused by mutations in SURF1, the only other known COX assembly gene associated with a human disease, Leigh syndrome.
|
10545952 |
1999 |