Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
ATP synthase deficiency due to TMEM70 mutation leads to ultrastructural mitochondrial degeneration and is amenable to treatment.
|
26550569 |
2015 |
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Screening for nuclear genetic defects in the ATP synthase-associated genes TMEM70, ATP12 and ATP5E in patients with 3-methylglutaconic aciduria.
|
21815885 |
2011 |
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy.
|
18953340 |
2008 |
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Expression and processing of the TMEM70 protein.
|
20937241 |
2011 |
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Compensatory upregulation of respiratory chain complexes III and IV in isolated deficiency of ATP synthase due to TMEM70 mutation.
|
22433607 |
2012 |
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Persistent pulmonary arterial hypertension in the newborn (PPHN): a frequent manifestation of TMEM70 defective patients.
|
24485043 |
2014 |
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome.
|
21147908 |
2011 |
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome.
|
21147908 |
2011 |
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy.
|
18953340 |
2008 |
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis.
|
22986587 |
2012 |
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome.
|
21147908 |
2011 |
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Persistent pulmonary arterial hypertension in the newborn (PPHN): a frequent manifestation of TMEM70 defective patients.
|
24485043 |
2014 |
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome.
|
21147908 |
2011 |