Hypertrophic Cardiomyopathy
|
0.490 |
Biomarker
|
disease |
BEFREE |
Investigating the cardiac pathology of SCO2-mediated hypertrophic cardiomyopathy using patients induced pluripotent stem cell-derived cardiomyocytes.
|
29193756 |
2018 |
Hypertrophic Cardiomyopathy
|
0.490 |
GeneticVariation
|
disease |
LHGDN |
Mutations in the SCO2 gene are a cause of prenatal-onset hypertrophic cardiomyopathy.
|
18924171 |
2008 |
Hypertrophic Cardiomyopathy
|
0.490 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the SCO2 gene are a cause of prenatal-onset hypertrophic cardiomyopathy.
|
18924171 |
2008 |
Hypertrophic Cardiomyopathy
|
0.490 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SCO2, a metallochaperone involved in mitochondrial copper delivery, are associated with early onset, fatal hypertrophic cardiomyopathy.
|
16765077 |
2006 |
Hypertrophic Cardiomyopathy
|
0.490 |
Biomarker
|
disease |
CTD_human |
Here, we report a patient with SCO 2 mutations and with resolution of severe hypertrophic cardiomyopathy.
|
14970747 |
2004 |
Hypertrophic Cardiomyopathy
|
0.490 |
GeneticVariation
|
disease |
BEFREE |
The typical clinical presentation of SCO2 mutations is severe, rapidly progressive hypertrophic cardiomyopathy that presents in the neonatal period and is often associated with respiratory difficulties, metabolic acidosis, and hypotonia.
|
15210538 |
2004 |
Hypertrophic Cardiomyopathy
|
0.490 |
GeneticVariation
|
disease |
BEFREE |
Here, we report a patient with SCO 2 mutations and with resolution of severe hypertrophic cardiomyopathy.
|
14970747 |
2004 |
Hypertrophic Cardiomyopathy
|
0.490 |
GeneticVariation
|
disease |
LHGDN |
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 |
Hypertrophic Cardiomyopathy
|
0.490 |
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 |
Hypertrophic Cardiomyopathy
|
0.490 |
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 |
Hypertrophic Cardiomyopathy
|
0.490 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency.
|
10749987 |
2000 |
Hypertrophic Cardiomyopathy
|
0.490 |
Biomarker
|
disease |
CTD_human |
Recently, we and others have shown that mutations in SCO2 are associated with a lethal infantile hypertrophic cardiomyopathy (HCMP) with COX-deficiency.
|
11027508 |
2000 |
Hypertrophic Cardiomyopathy
|
0.490 |
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 |
Hypertrophic Cardiomyopathy
|
0.490 |
Biomarker
|
disease |
HPO |
|
|
|