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Mutations of the ETFDH gene probably underlie the pathogenesis of lipid storage myopathy in this family
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Multiple acyl-CoA dehydrogenase deficiency is cause by electron transfer flavoprotein ubiquinone oxidoreductase mutation at heterozygotes with c.1354A>G (p.Arg452Gly) and exon 7-8 deletion for Patient 1, and with c.831+3A>C and exon 1-7 deletion for Patient 2.
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This case report extends the spectrum of ETFDH mutations in multiple acyl-CoA dehydrogenase deficiency (MADD), providing further evidence that patients presenting at least one missense mutation in the FAD-binding domain may respond to either carnitine or riboflavin treatment, due to the recovery of some enzymatic activity.
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Neurite shortening and impairment in neurite growth was caused by a mutation in ETFDH.
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This study identified three novel compound heterozygous mutations of ETFDH gene in patients with late-onset multiple acyl-CoA dehydrogenase deficiency, and discussed the significant clinical heterogeneity among patients with similar genotype.
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ETFDH mutation is the causative gene in patients with adult-onset multiple acyl-CoA dehydrogenase deficiency with severe sensory neuropathy.
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Mtation c.250G>A and mutation c.353G>T in the ETFDH gene are associate with multiple aeyl-CoA dehydrogenase deficiency with severe fatty liver.
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identified 61 ETFDH mutations, including 31 novel mutations, which were widely distributed within the coding sequence
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Mutations in SLC22A5 and ETFDH are associated with riboflavin responsive-multiple acyl-CoA dehydrogenase deficiency.
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Results show that a predicted benign ETFDH missense variationc.158A>G in exon 2 causes exon skipping and degradation of ETFDH protein in patient samples.
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Case Report: ETF dehydrogenase mutations resulting in mild glutaric aciduria type II and complex II-III deficiency in liver and muscle.
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folding defects in the variant ETF-QO proteins and multiple acyl-CoA dehydrogenation deficiency
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a significant reduced expression of ETFDH was identified in the muscle of ETFDH-deficient patients; ETFDH deficiency is a major cause of riboflavin-responsive MADD in southern China, and c.250G>A is an important mutation
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High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy
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3 known (c.250G>A, c380T>A, c.524G>T) and 1 novel (c.1831G>A) ETFDH mutation were detected by high resolution melting analysis. The carrier frequency of the hotspot mutation, c.250G>A, in the Taiwanese population was found to be 1:125.
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lipid storage myopathy caused by ETFDH gene mutations.
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expression from a baculovirus vector and kinetic and spectral characteristics
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Mutations are identified by molecular analysis of 20 ETF:QO-deficient patients. Twenty-one different disease-causing mutations were identified on 36 of the 40 chromosomes.
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patients had autosomal recessive mutations in ETFDH, suggesting ETFDH deficiency leads to a secondary CoQ10 deficiency; results indicate that the late-onset form of glutaric aciduria type II & the myopathic form of CoQ10 deficiency are allelic diseases
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study identified ETFDH mutations in all members of a large series of patients with riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency