Variant: rs121964954 

    present in Gene: ETFDH
    present in Chromosome: 4
    Position on Chromosome: 158682269
    Alleles of this Variant: G/A

rs121964954 in ETFDH gene and Multiple Acyl Coenzyme A Dehydrogenase Deficiency PMID 24357026 2014 Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency.

PMID 19249206 2009 ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.

PMID 17412732 2007 The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene.

PMID 27935074 2017 Neurite shortening caused by the c.250G>A mutation in ETFDH suggests that neural defects could be underdiagnosed in human patients with MADD.

PMID 27000805 2016 Significant clinical heterogeneity with similar ETFDH genotype in three Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency.

PMID 27270537 2016 Skeletal Muscle Magnetic Resonance Imaging of the Lower Limbs in Late-onset Lipid Storage Myopathy with Electron Transfer Flavoprotein Dehydrogenase Gene Mutations.

PMID 22013910 2011 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.

PMID 20370797 2010 High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy.

PMID 12359134 2003 Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene.

PMID 16527485 2006 So doctor, what exactly is wrong with my muscles? Glutaric aciduria type II presenting in a teenager.

PMID 12815589 2003 Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency.