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NOVEL MUTATION OF THE ELECTRON TRANSFERRING FLAVOPROTEIN DEHYDROGENASE (ETFDH) GENE IN THE ISOLATED MYOPATHIC FORM OF COENZYME q10 DEFICIENCY.

Genetic counseling (Geneva, Switzerland) - 1 Jan 2015

Gorukmez O, Gorukmez O, Sag S Ozemri, Erdol S, Saglam H, Yakut T

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PMID: 26349199

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ETFDH

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NOVEL MUTATION OF THE ELECTRON TRANSFERRING FLAVOPROTEIN DEHYDROGENASE (ETFDH) GENE IN THE ISOLATED MYOPATHIC FORM OF COENZYME q10 DEFICIENCY.PMID 26349199Read ↗

The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene.Semantic proximity Read ↗

ETF dehydrogenase advances in molecular genetics and impact on treatment.Semantic proximity Read ↗

Clinical syndromes associated with Coenzyme Q10 deficiency.Semantic proximity Read ↗

A case of late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency with novel mutations in ETFDH gene.Semantic proximity Read ↗

Mutations in coenzyme Q10 biosynthetic genes.Semantic proximity Read ↗

Lipid-storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late-onset multiple acyl-CoA dehydrogenation deficiency.Semantic proximity Read ↗

ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.Semantic proximity Read ↗

Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene.Semantic proximity Read ↗

Novel mutations in ETFDH gene in Chinese patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiencySemantic proximity Read ↗

A case of late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency (MADD) with a novel mutation in ETFDH gene.Semantic proximity Read ↗

Human coenzyme Q10 deficiency.Semantic proximity Read ↗

Conformational analysis of the riboflavin-responsive ETF:QO-p.Pro456Leu variant associated with mild multiple acyl-CoA dehydrogenase deficiency.Semantic proximity Read ↗

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