rs121964954
×
Entrez Id:
2110
Gene Symbol:
ETFDH
ETFDH
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
0.830
GeneticVariation
BEFREE
These results help to clarify the molecular pathogenesis of MADD as a result of the high frequency of the <i>ETFDH</i> c.250G>A and c.92C>T mutations.
30709034
2019
rs121964954
×
Entrez Id:
2110
Gene Symbol:
ETFDH
ETFDH
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
0.830
GeneticVariation
BEFREE
Neurite shortening caused by the c.250G>A mutation in ETFDH suggests that neural defects could be underdiagnosed in human patients with MADD .
27935074
2017
rs121964954
×
Entrez Id:
2110
Gene Symbol:
ETFDH
ETFDH
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
A
0.830
CausalMutation
CLINVAR
Neurite shortening caused by the c.250G>A mutation in ETFDH suggests that neural defects could be underdiagnosed in human patients with MADD .
27935074
2017
rs121964954
×
Entrez Id:
2110
Gene Symbol:
ETFDH
ETFDH
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
A
0.830
CausalMutation
CLINVAR
Significant clinical heterogeneity with similar ETFDH genotype in three Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
27000805
2016
rs121964954
×
Entrez Id:
2110
Gene Symbol:
ETFDH
ETFDH
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
A
0.830
CausalMutation
CLINVAR
Skeletal Muscle Magnetic Resonance Imaging of the Lower Limbs in Late-onset Lipid Storage Myopathy with Electron Transfer Flavoprotein Dehydrogenase Gene Mutations.
27270537
2016
rs121964954
×
Entrez Id:
2110
Gene Symbol:
ETFDH
ETFDH
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
A
0.830
CausalMutation
CLINVAR
Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
24357026
2014
rs121964954
×
Entrez Id:
2110
Gene Symbol:
ETFDH
ETFDH
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
0.830
GeneticVariation
BEFREE
High resolution melting (HRM) analysis and sequencing of the entire ETFDH gene revealed a novel mutation (p.Phe128Ser) and the hotspot mutation (p.Ala84Thr ) from a patient with MADD .
22013910
2011
rs121964954
×
Entrez Id:
2110
Gene Symbol:
ETFDH
ETFDH
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
A
0.830
CausalMutation
CLINVAR
High resolution melting (HRM) analysis and sequencing of the entire ETFDH gene revealed a novel mutation (p.Phe128Ser) and the hotspot mutation (p.Ala84Thr ) from a patient with MADD .
22013910
2011
rs121964954
×
Entrez Id:
2110
Gene Symbol:
ETFDH
ETFDH
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
0.830
GeneticVariation
UNIPROT
High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy.
20370797
2010
rs121964954
×
Entrez Id:
2110
Gene Symbol:
ETFDH
ETFDH
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
A
0.830
CausalMutation
CLINVAR
ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
19249206
2009
rs121964954
×
Entrez Id:
2110
Gene Symbol:
ETFDH
ETFDH
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
0.830
GeneticVariation
UNIPROT
ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
19249206
2009
rs121964954
×
Entrez Id:
2110
Gene Symbol:
ETFDH
ETFDH
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
0.830
GeneticVariation
UNIPROT
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene.
17412732
2007
rs121964954
×
Entrez Id:
2110
Gene Symbol:
ETFDH
ETFDH
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
0.830
GeneticVariation
UNIPROT
So doctor, what exactly is wrong with my muscles? Glutaric aciduria type II presenting in a teenager.
16527485
2006
rs121964954
×
Entrez Id:
2110
Gene Symbol:
ETFDH
ETFDH
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
0.830
GeneticVariation
UNIPROT
Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency.
12815589
2003
rs121964954
×
Entrez Id:
2110
Gene Symbol:
ETFDH
ETFDH
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
0.830
GeneticVariation
UNIPROT
Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene.
12359134
2003
rs121964954
×
Entrez Id:
2110
Gene Symbol:
ETFDH
ETFDH
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
A
0.830
GeneticVariation
CLINVAR
rs398124152
×
Entrez Id:
2110
Gene Symbol:
ETFDH
ETFDH
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
T
0.800
CausalMutation
CLINVAR
Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic disease.
27038534
2016
rs398124152
×
Entrez Id:
2110
Gene Symbol:
ETFDH
ETFDH
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
T
0.800
CausalMutation
CLINVAR
Clinical, biochemical and molecular investigation of adult-onset glutaric acidemia type II: Characteristics in comparison with pediatric cases.
26403312
2016
rs377656387
×
Entrez Id:
2110
Gene Symbol:
ETFDH
ETFDH
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
T
0.800
CausalMutation
CLINVAR
Newborn Screening for Glutaric Aciduria-II: The New England Experience.
24190796
2014
rs398124152
×
Entrez Id:
2110
Gene Symbol:
ETFDH
ETFDH
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
T
0.800
CausalMutation
CLINVAR
Secondary coenzyme Q10 deficiency and oxidative stress in cultured fibroblasts from patients with riboflavin responsive multiple Acyl-CoA dehydrogenation deficiency.
23727839
2013
rs377656387
×
Entrez Id:
2110
Gene Symbol:
ETFDH
ETFDH
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
T
0.800
CausalMutation
CLINVAR
Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency.
22611163
2012
rs398124152
×
Entrez Id:
2110
Gene Symbol:
ETFDH
ETFDH
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
T
0.800
CausalMutation
CLINVAR
Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency.
22611163
2012
rs121964956
×
Entrez Id:
2110
Gene Symbol:
ETFDH
ETFDH
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
0.800
GeneticVariation
UNIPROT
High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy.
20370797
2010
rs387907170
×
Entrez Id:
2110
Gene Symbol:
ETFDH
ETFDH
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
0.800
GeneticVariation
UNIPROT
High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy.
20370797
2010
rs121964956
×
Entrez Id:
2110
Gene Symbol:
ETFDH
ETFDH
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
0.800
GeneticVariation
UNIPROT
ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
19249206
2009