VCV000012028.48 - ClinVar

NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr)

Germline

Classification

criteria provided, multiple submitters, no conflicts. Learn more about how ClinVar calculates review status.

Pathogenic
Pathogenic (10)

10 out of 13 submissions contributed to this classification

The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr)

Variation ID: 12028 Accession: VCV000012028.48

Type and length

single nucleotide variant, 1 bp

Location

Cytogenetic: 4q32.1 4: 158682269 (GRCh38) [ NCBI UCSC ] 4: 159603421 (GRCh37) [ NCBI UCSC ]

Timeline in ClinVar

	First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.	Last submission Help The date of the most recent submission for each type of classification for this variant.	Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline	Apr 4, 2013	Apr 4, 2026	Jan 18, 2026

HGVS

Nucleotide	Protein	Molecular consequence
NM_004453.4:c.250G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_004444.2:p.Ala84Thr	missense
NM_001281737.2:c.109G>A	NP_001268666.1:p.Ala37Thr	missense
NM_001281738.1:c.67G>A	NP_001268667.1:p.Ala23Thr	missense
NM_004453.2:c.250G>A
NC_000004.12:g.158682269G>A
NC_000004.11:g.159603421G>A
NG_007078.2:g.14928G>A
	Q16134:p.Ala84Thr

... more HGVS ... less HGVS

Protein change

A84T, A23T, A37T

Other names

Canonical SPDI

NC_000004.12:158682268:G:A

Global minor allele frequency (GMAF) Help The global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.

0.00020 (A)

Allele frequency Help The frequency of the allele represented by this VCV record.

The Genome Aggregation Database (gnomAD) 0.00004

The Genome Aggregation Database (gnomAD) 0.00005

The Genome Aggregation Database (gnomAD), exomes 0.00005

Trans-Omics for Precision Medicine (TOPMed) 0.00007

The Genome Aggregation Database (gnomAD), exomes 0.00014

1000 Genomes Project 30x 0.00016

Exome Aggregation Consortium (ExAC) 0.00016

1000 Genomes Project 0.00020

Links

ClinGen: CA121817 UniProtKB: Q16134#VAR_075442 OMIM: 231675.0003 dbSNP: rs121964954 VarSome

Genes

Gene	OMIM	ClinGen Gene Dosage Sensitivity Curation		Variation Viewer Help Links to Variation Viewer, a genome browser to view variation data from NCBI databases.	Related variants
Gene	OMIM	HI score Help The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.	TS score Help The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.		Within gene Help The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants.	All Help The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene.
ETFDH		Gene associated with autosomal recessive phenotype	Not yet evaluated	GRCh38 GRCh37	1107	1156

Conditions - Germline

Condition Help The condition for this variant-condition (RCV) record in ClinVar.	Classification Help The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions)	Review status Help The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status.	Last evaluated Help The most recent date that a submitter evaluated this variant for the condition.	Variation/condition record Help The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page.
Glutaric acidemia IIc	Pathogenic (1)	no assertion criteria provided	Dec 1, 2010	RCV000012808.23
not provided	Pathogenic (2)	criteria provided, multiple submitters, no conflicts	Jan 27, 2022	RCV000224728.6
Multiple acyl-CoA dehydrogenase deficiency	Pathogenic (8)	criteria provided, multiple submitters, no conflicts	Jan 18, 2026	RCV000553294.25
See cases	no classifications from unflagged records (1)	no classifications from unflagged records	May 24, 2024	RCV003231099.3
Glutaric acidemia type 2C	Pathogenic (1)	criteria provided, single submitter	Nov 4, 2025	RCV006638616.1

Submissions - Germline

Classification Help The submitted germline classification for each SCV record. (Last evaluated)	Review status Help Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria)	Condition Help The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant.	Submitter Help The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar.	Expand all rows Collapse all rows Help This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.
Pathogenic (Oct 30, 2015) C Contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015)	not provided	Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics Accession: SCV000281570.2 First in ClinVar: Jun 08, 2016 Last updated: Jun 08, 2016	Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: not provided more Observation 1 Collection method: clinical testing Allele origin: germline Affected status: not provided Platform type: Sequencing Platform name: Illumina

Pathogenic (-) C Contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015)	Multiple acyl-CoA dehydrogenase deficiency	Juno Genomics, Hangzhou Juno Genomics, Inc Accession: SCV005416471.2 First in ClinVar: Nov 30, 2024 Last updated: Oct 05, 2025	Comment: show Novel missense change at an amino acid residue where a different missense change determined to be pathogenic has been seen before.;Multiple lines of computational evidence support a deleterious effect on the gene or gene product (conservation, evolutionary, splicing impact, etc).;For recessive disorders, detected in trans with a pathogenic variant. (less) Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: yes Observation 1 Collection method: clinical testing Allele origin: germline Affected status: yes

Pathogenic (Jan 03, 2022) C Contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015)	Multiple acyl-CoA dehydrogenase deficiency	3billion Accession: SCV002058808.1 First in ClinVar: Jan 15, 2022 Last updated: Jan 15, 2022	Publications: PMID:19249206 PMID:19249206 PMID:23628458 PMID:23628458 Comment: show Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000012028, PMID:19249206, PS1_S). The variant has been reported to be in trans with a pathogenic variant as either compound heterozygous or homozygous in at least one similarly affected unrelated individual (3billion dataset, PM3_M). A different missense change at the same codon has been reported to be associated with ETFDH related disorder (PMID:23628458, PM5_P). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.886, 3CNET: 0.925, PP3_P). A missense variant is a common mechanism associated with Glutaric acidemia IIC (PP2_P). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000127, PM2_M). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. (less) Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: yes more Observation 1 Collection method: clinical testing Allele origin: germline Affected status: yes Clinical Features: Global developmental delay (present) , Abnormal facial shape (present) , Hepatic steatosis (present) , Generalized hypotonia (present) , Mild intellectual disability (present) , Intellectual disability (present) Zygosity: 1 Single Heterozygote Platform type: whole exome sequencing Platform name: NovaSeq

Pathogenic (Jan 27, 2022) C Contributing to aggregate classification	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	not provided	GeneDx Accession: SCV001814073.3 First in ClinVar: Sep 08, 2021 Last updated: Mar 04, 2023	Comment: show Functional studies in an A84T knock-in mouse model found this variant was associated with lower steady state levels of ETF:QO protein and increased acylcarnitine concentration in muscle that was riboflavin-dependent, consistent with findings in muscle cells from affected individuals (Xu J et al., 2018); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27060313, 20370797, 25119904, 24357026, 21347544, 22013910, 19249206, 27000805, 24522293, 19265687, 29961769, 29615056, 28950901, 31058673, 31852447, 32190638, 27935074, 32778825, 33639866, 32005694, 33589341, 29046209, 27270537, 30709034, 30232818) (less) Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: yes Observation 1 Collection method: clinical testing Allele origin: germline Affected status: yes

Pathogenic (Dec 13, 2023) C Contributing to aggregate classification	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Multiple acyl-CoA dehydrogenase deficiency	Women's Health and Genetics/Laboratory Corporation of America, LabCorp Accession: SCV004241078.1 First in ClinVar: Feb 04, 2024 Last updated: Feb 04, 2024	Publications: PubMed (2) PubMed: 27270537‚ 30232818 Comment: show Variant summary: ETFDH c.250G>A (p.Ala84Thr) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00014 in 251434 control chromosomes. This frequency is not significantly higher than estimated for a pathogenic variant in ETFDH causing Glutaric Aciduria, Type 2c (0.00014 vs 0.0011), allowing no conclusion about variant significance. c.250G>A has been reported in the literature in multiple individuals affected with lateonset multiple acylcoenzyme A dehydrogenation deficiency, including as a homozygote or heterozygote phenotype without second variants reported (e.g. Liu_2016). These data indicate that the variant is very likely to be associated with disease. At least one publication reports experimental evidence demonstrating an impact on protein function in Etfdh-(h)A84T knock-in mice, showing reduced protein levels in muscle and liver with vitamin B2 deficiency, and clinical and biochemical profiles similar to human patients affected with riboflavin-responsive multiple acylcoenzyme A dehydrogenation deficiency (e.g. Xu_2018). The following publications have been ascertained in the context of this evaluation (PMID: 27270537, 30232818). Eight submitters have cited clinical-significance assessments for this variant to ClinVar after 2014, classifying the variant as pathogenic (n=7) or likely pathogenic (n=1). Based on the evidence outlined above, the variant was classified as pathogenic. (less) Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: unknown Observation 1 Collection method: clinical testing Allele origin: germline Affected status: unknown

Pathogenic (Mar 30, 2024) C Contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015)	Multiple acyl-CoA dehydrogenase deficiency	Baylor Genetics Accession: SCV004194765.2 First in ClinVar: Dec 30, 2023 Last updated: Jun 17, 2024	Observation: 1 Collection method: clinical testing Allele origin: unknown Affected status: unknown Observation 1 Collection method: clinical testing Allele origin: unknown Affected status: unknown

Pathogenic (Nov 04, 2025) C Contributing to aggregate classification	criteria provided, single submitter (Natera Variant Classification Schema (03/2026))	Glutaric acidemia type 2C	Natera, Inc. Accession: SCV001452018.2 First in ClinVar: Jan 02, 2021 Last updated: Apr 04, 2026	Publications: PubMed (3) PubMed: 19265687‚ 20138856‚ 23628458 Comment: show The c.250G>A variant in ETFDH is a missense variant predicted to cause substitution of alanine to threonine at amino acid 84. This variant is rare in the general population with a frequency below the threshold expected for the associated phenotype(s). This variant has been observed in one or more individuals affected with the associated recessive disease, as either homozygous or compound heterozygous with a second variant (PMID: 23628458, 20138856, 19265687). Additionally, this variant has been observed to segregate in affected family members (PMID: 20138856). Computational prediction algorithms indicate this variant is likely to affect gene or protein function. Given the available evidence, this variant is classified as Pathogenic. (less) Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: unknown Observation 1 Collection method: clinical testing Allele origin: germline Affected status: unknown

Pathogenic (May 06, 2024) C Contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015)	Multiple acyl-CoA dehydrogenase deficiency	Fulgent Genetics, Fulgent Genetics Accession: SCV002796479.2 First in ClinVar: Dec 31, 2022 Last updated: Jan 25, 2025	Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: unknown Observation 1 Collection method: clinical testing Allele origin: germline Affected status: unknown

Pathogenic (Apr 27, 2021) C Contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015)	Multiple acyl-CoA dehydrogenase deficiency	Revvity Omics, Revvity Accession: SCV002022219.4 First in ClinVar: Nov 29, 2021 Last updated: Sep 06, 2025	Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: unknown Observation 1 Collection method: clinical testing Allele origin: germline Affected status: unknown

Pathogenic (Jan 18, 2026) C Contributing to aggregate classification	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Multiple acyl-CoA dehydrogenase deficiency	Labcorp Genetics (formerly Invitae), Labcorp Accession: SCV000631958.9 First in ClinVar: Dec 26, 2017 Last updated: Feb 23, 2026	Publications: PubMed (9) PubMed: 19249206‚ 20370797‚ 21347544‚ 22013910‚ 24357026‚ 27000805‚ 27270537‚ 27935074‚ 28492532 Comment: show This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 84 of the ETFDH protein (p.Ala84Thr). This variant is present in population databases (rs121964954, gnomAD 0.2%). This missense change has been observed in individuals with late-onset, riboflavine-responsive form of MADD (PMID: 19249206, 20370797, 21347544, 22013910, 24357026, 27000805, 27270537). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 12028). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt ETFDH protein function with a positive predictive value of 80%. Experimental studies have shown that this missense change affects ETFDH function (PMID: 27935074). For these reasons, this variant has been classified as Pathogenic. (less) Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: unknown Observation 1 Collection method: clinical testing Allele origin: germline Affected status: unknown

Pathogenic (Dec 01, 2010) N Not contributing to aggregate classification	no assertion criteria provided	GLUTARIC ACIDEMIA IIC	OMIM Accession: SCV000033048.2 First in ClinVar: Apr 04, 2013 Last updated: Jul 15, 2021	Publications: PubMed (2) PubMed: 19249206‚ 20370797 Observation: 1 Collection method: literature only Allele origin: germline Affected status: not provided more Observation 1 Collection method: literature only Allele origin: germline Affected status: not provided Comment on evidence: In 4 Taiwanese patients from 3 unrelated families with glutaric acidemia IIC (MADD; 231680), Liang et al. (2009) identified a 250G-A transition in exon 3 … (more) In 4 Taiwanese patients from 3 unrelated families with glutaric acidemia IIC (MADD; 231680), Liang et al. (2009) identified a 250G-A transition in exon 3 of the ETFDH gene, resulting in an ala84-to-thr (A84T) substitution. One patient was homozygous for the mutation, whereas the other 3 were compound heterozygous for A84T and either a 524G-T transversion, resulting in an arg175-to-leu (R175L; 231675.0004) substitution (2 sibs) or a 380T-A transversion, resulting in a leu127-to-his (L127H; 231675.0005) substitution. All 3 mutations affected highly conserved residues in the FAD-binding domain. The R175L and L127H mutations were not identified in 200 Taiwanese control chromosomes. The A84T variant was identified in 1 of 200 Taiwanese control chromosomes but not in 100 Japanese, 100 Korean, and 100 Thai control chromosomes. No specific haplotype could be linked to the A84T variant. Lan et al. (2010) identified homozygosity for the A84T mutation in 6 of 7 Han Taiwanese patients with MADD. The patients had a variable phenotype. The age at diagnosis ranged from 7 to 43 years, and the patients' ages at the time of the report were between 22 and 44 years. All had a history of episodic myalgia and limb weakness predominantly affecting the proximal muscles during an acute stage of myopathy. Four had dysphagia and 2 had respiratory failure. Serum creatine kinase was increased during the acute attacks. Three had 1 episode, whereas 4 had recurrent episodes. Four patients had extramuscular features. All except 1 regained normal muscle strength after the acute stage. Trigger factors in some patients included prolonged fasting and exercise. Blood analysis showed increased acylcarnitines ranging from C8 to C16. A seventh Han Taiwanese patient with the disorder was compound heterozygous for A84T and a 524G-A transition in the ETFDH gene, resulting in an arg175-to-his (R175H; 231675.0006) substitution in a highly conserved residue in the FAD-binding domain. (less)

Likely pathogenic (Jun 07, 2017) N Not contributing to aggregate classification	no assertion criteria provided	Multiple acyl-CoA dehydrogenase deficiency	SingHealth Duke-NUS Institute of Precision Medicine Accession: SCV000853129.1 First in ClinVar: Nov 25, 2018 Last updated: Nov 25, 2018	Observation: 1 Collection method: curation Allele origin: germline Affected status: no Observation 1 Collection method: curation Allele origin: germline Affected status: no

Uncertain significance (-) N Not contributing to aggregate classification	Flagged submission flagged submission (ACMG Guidelines, 2015) Reason: Outlier claim with insufficient supporting evidence Source: ClinGen	See cases (Autosomal recessive inheritance)	Pediatric Department, Xiangya Hospital, Central South University Accession: SCV002760204.1 First in ClinVar: Jun 10, 2023 Last updated: Jun 10, 2023	Comment: show This variant was observed in compound heterozygosity with variant (c.2T>G) (less) Observation: 1 Collection method: clinical testing Allele origin: inherited Affected status: yes more Observation 1 Collection method: clinical testing Allele origin: inherited Affected status: yes Clinical Features: Muscle weakness (present) , Abnormality of the liver (present)

Flagged submissions do not contribute to the aggregate classification or review status for the variant. Learn more

Comment:

Novel missense change at an amino acid residue where a different missense change determined to be pathogenic has been seen before.;Multiple lines of computational evidence support a deleterious effect on the gene or gene product (conservation, evolutionary, splicing impact, etc).;For recessive disorders, detected in trans with a pathogenic variant.

Comment:

Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000012028, PMID:19249206, PS1_S). The variant has been reported to be in trans with a pathogenic variant as either compound heterozygous or homozygous in at least one similarly affected unrelated individual (3billion dataset, PM3_M). A different missense change at the same codon has been reported to be associated with ETFDH related disorder (PMID:23628458, PM5_P). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.886, 3CNET: 0.925, PP3_P). A missense variant is a common mechanism associated with Glutaric acidemia IIC (PP2_P). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000127, PM2_M). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.

Comment:

Functional studies in an A84T knock-in mouse model found this variant was associated with lower steady state levels of ETF:QO protein and increased acylcarnitine concentration in muscle that was riboflavin-dependent, consistent with findings in muscle cells from affected individuals (Xu J et al., 2018); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27060313, 20370797, 25119904, 24357026, 21347544, 22013910, 19249206, 27000805, 24522293, 19265687, 29961769, 29615056, 28950901, 31058673, 31852447, 32190638, 27935074, 32778825, 33639866, 32005694, 33589341, 29046209, 27270537, 30709034, 30232818)

Comment:

Variant summary: ETFDH c.250G>A (p.Ala84Thr) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00014 in 251434 control chromosomes. This frequency is not significantly higher than estimated for a pathogenic variant in ETFDH causing Glutaric Aciduria, Type 2c (0.00014 vs 0.0011), allowing no conclusion about variant significance. c.250G>A has been reported in the literature in multiple individuals affected with lateonset multiple acylcoenzyme A dehydrogenation deficiency, including as a homozygote or heterozygote phenotype without second variants reported (e.g. Liu_2016). These data indicate that the variant is very likely to be associated with disease. At least one publication reports experimental evidence demonstrating an impact on protein function in Etfdh-(h)A84T knock-in mice, showing reduced protein levels in muscle and liver with vitamin B2 deficiency, and clinical and biochemical profiles similar to human patients affected with riboflavin-responsive multiple acylcoenzyme A dehydrogenation deficiency (e.g. Xu_2018). The following publications have been ascertained in the context of this evaluation (PMID: 27270537, 30232818). Eight submitters have cited clinical-significance assessments for this variant to ClinVar after 2014, classifying the variant as pathogenic (n=7) or likely pathogenic (n=1). Based on the evidence outlined above, the variant was classified as pathogenic.

Comment:

The c.250G>A variant in ETFDH is a missense variant predicted to cause substitution of alanine to threonine at amino acid 84. This variant is rare in the general population with a frequency below the threshold expected for the associated phenotype(s). This variant has been observed in one or more individuals affected with the associated recessive disease, as either homozygous or compound heterozygous with a second variant (PMID: 23628458, 20138856, 19265687). Additionally, this variant has been observed to segregate in affected family members (PMID: 20138856). Computational prediction algorithms indicate this variant is likely to affect gene or protein function. Given the available evidence, this variant is classified as Pathogenic.

Comment:

This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 84 of the ETFDH protein (p.Ala84Thr). This variant is present in population databases (rs121964954, gnomAD 0.2%). This missense change has been observed in individuals with late-onset, riboflavine-responsive form of MADD (PMID: 19249206, 20370797, 21347544, 22013910, 24357026, 27000805, 27270537). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 12028). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt ETFDH protein function with a positive predictive value of 80%. Experimental studies have shown that this missense change affects ETFDH function (PMID: 27935074). For these reasons, this variant has been classified as Pathogenic.

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
ETFDH Mutations and Flavin Adenine Dinucleotide Homeostasis Disturbance Are Essential for Developing Riboflavin-Responsive Multiple Acyl-Coenzyme A Dehydrogenation Deficiency.	Xu J	Annals of neurology	2018	PMID: 30232818
Neurite growth could be impaired by ETFDH mutation but restored by mitochondrial cofactors.	Liang WC	Muscle & nerve	2017	PMID: 27935074
Skeletal Muscle Magnetic Resonance Imaging of the Lower Limbs in Late-onset Lipid Storage Myopathy with Electron Transfer Flavoprotein Dehydrogenase Gene Mutations.	Liu XY	Chinese medical journal	2016	PMID: 27270537
Significant clinical heterogeneity with similar ETFDH genotype in three Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency.	Fu HX	Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology	2016	PMID: 27000805
Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency.	Xi J	Journal of inherited metabolic disease	2014	PMID: 24357026
Increased muscle coenzyme Q10 in riboflavin responsive MADD with ETFDH gene mutations due to secondary mitochondrial proliferation.	Wen B	Molecular genetics and metabolism	2013	PMID: 23628458
Computational analysis of a novel mutation in ETFDH gene highlights its long-range effects on the FAD-binding motif.	Er TK	BMC structural biology	2011	PMID: 22013910
Molecular analysis of 51 unrelated pedigrees with late-onset multiple acyl-CoA dehydrogenation deficiency (MADD) in southern China confirmed the most common ETFDH mutation and high carrier frequency of c.250G>A.	Wang ZQ	Journal of molecular medicine (Berlin, Germany)	2011	PMID: 21347544
High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy.	Lan MY	Clinical genetics	2010	PMID: 20370797
High resolution melting analysis facilitates mutation screening of ETFDH gene: applications in riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.	Er TK	Clinica chimica acta; international journal of clinical chemistry	2010	PMID: 20138856
Novel mutations in ETFDH gene in Chinese patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.	Law LK	Clinica chimica acta; international journal of clinical chemistry	2009	PMID: 19265687
ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.	Liang WC	Neuromuscular disorders : NMD	2009	PMID: 19249206
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Text-mined citations for rs121964954 ...

These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Apr 13, 2026