3638 lines
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- *231675 - ELECTRON TRANSFER FLAVOPROTEIN DEHYDROGENASE; ETFDH
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- OMIM
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<p>
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<span class="h4">*231675</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/231675">Table View</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000171503;t=ENST00000511912" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=2110" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=231675" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000171503;t=ENST00000511912" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001281737,NM_001281738,NM_004453" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_004453" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=231675" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=01978&isoform_id=01978_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/ETFDH" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/protein/545621,15080244,22652495,31874555,119625259,119703746,156186261,156186263,189054558,194374531,194388394,292495008,528881081,528881083,1328385881,1328385883,1524091597" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
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<div><a href="https://www.uniprot.org/uniprotkb/Q16134" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=2110" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000171503;t=ENST00000511912" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=ETFDH" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
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<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=ETFDH" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+2110" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<dd><a href="http://v1.marrvel.org/search/gene/ETFDH" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:2110" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/2110" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr4&hgg_gene=ENST00000511912.6&hgg_start=158672296&hgg_end=158709623&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3483" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:3483" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/etfdh" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=231675[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=231675[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000171503" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=ETFDH" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=ETFDH" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=ETFDH" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=ETFDH&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
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<div><a href="https://www.pharmgkb.org/gene/PA27899" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:3483" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0286783.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:106100" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
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<div><a href="http://v1.marrvel.org/search/gene/ETFDH#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:106100" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
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<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/2110/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://omia.org/OMIA001457/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=2110" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00002855;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-040912-168" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=ETFDH&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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231675
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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ELECTRON TRANSFER FLAVOPROTEIN DEHYDROGENASE; ETFDH
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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ELECTRON TRANSFER FLAVOPROTEIN:UBIQUINONE OXIDOREDUCTASE; ETFQO
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=ETFDH" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">ETFDH</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/4/638?start=-3&limit=10&highlight=638">4q32.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr4:158672296-158709623&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">4:158,672,296-158,709,623</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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<a href="/geneMap/4/638?start=-3&limit=10&highlight=638">
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4q32.1
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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Glutaric acidemia IIC
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/231680"> 231680 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/231675" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/231675" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div>
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<p>Electron transfer flavoprotein (ETF) exists in the mitochondrial matrix as a heterodimer of 30-kD alpha subunits (ETFA; <a href="/entry/608053">608053</a>) and 28-kD beta subunits (ETFB; <a href="/entry/130410">130410</a>) and contains 1 flavin adenine dinucleotide (FAD) and 1 adenosine 5-prime monophosphate (AMP) per heterodimer. ETFDH, a 64-kD monomer integrated in the inner mitochondrial membrane, contains 1 molecule of FAD and a 4Fe-4S cluster. Both enzymes are required for electron transfer from at least 9 mitochondrial flavin-containing dehydrogenases to the main respiratory chain. Multiple acyl-CoA dehydrogenation deficiency (MADD; <a href="/entry/231680">231680</a>), also known as glutaric acidemia II or glutaric aciduria II, can be caused by mutation in any of the 3 ETF genes. The disorders resulting from defects in the ETFA, ETFB, and ETFDH genes are referred to as glutaric acidemia IIA, IIB, and IIC, respectively, although there appears to be no difference in the clinical phenotypes.</p>
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<p><a href="#9" class="mim-tip-reference" title="Olsen, R. K. J., Andresen, B. S., Christensen, E., Bross, P., Skovby, F., Gregersen, N. <strong>Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency.</strong> Hum. Mutat. 22: 12-23, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12815589/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12815589</a>] [<a href="https://doi.org/10.1002/humu.10226" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12815589">Olsen et al. (2003)</a> determined that the ETFDH gene contains 13 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12815589" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By analysis of mouse/human and CHO/human hybrid panels and by in situ hybridization, <a href="#1" class="mim-tip-reference" title="Beard, S. E., Spector, E. B., Seltzer, W. K., Frerman, F. E., Goodman, S. I. <strong>Mutations in electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) in glutaric acidemia type II (GA2). (Abstract)</strong> Clin. Res. 41: 271A, 1993."None>Beard et al. (1993)</a> demonstrated that the ETFDH gene is located on 4q32-qter. <a href="#10" class="mim-tip-reference" title="White, R. A., Dowler, L. L., Angeloni, S. V., Koeller, D. M. <strong>Assignment of Etfdh, Etfb, and Etfa to chromosomes 3, 7, and 13: the mouse homologs of genes responsible for glutaric acidemia type II in human.</strong> Genomics 33: 131-134, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8617498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8617498</a>] [<a href="https://doi.org/10.1006/geno.1996.0170" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8617498">White et al. (1996)</a> demonstrated that the corresponding gene is located on mouse chromosome 3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8617498" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 4 patients with multiple acyl-CoA dehydrogenase deficiency (MADD; <a href="/entry/231680">231680</a>), also known as glutaric acidemia IIC, <a href="#1" class="mim-tip-reference" title="Beard, S. E., Spector, E. B., Seltzer, W. K., Frerman, F. E., Goodman, S. I. <strong>Mutations in electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) in glutaric acidemia type II (GA2). (Abstract)</strong> Clin. Res. 41: 271A, 1993."None>Beard et al. (1993)</a> identified 5 mutations in the ETFDH gene (see, e.g., <a href="#0001">231675.0001</a>). All 5 mutations were rare and caused total lack of enzyme activity and antigen.</p><p>In 4 Taiwanese patients from 3 unrelated families with MADD, <a href="#8" class="mim-tip-reference" title="Liang, W.-C., Ohkuma, A., Hayashi, Y. K., Lopez, L. C., Hirano, M., Nonaka, I., Noguchi, S., Chen, L.-H., Jong, Y.-J., Nishino, I. <strong>ETFDH mutations, CoQ-10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.</strong> Neuromusc. Disord. 19: 212-216, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19249206/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19249206</a>] [<a href="https://doi.org/10.1016/j.nmd.2009.01.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19249206">Liang et al. (2009)</a> identified homozygous or compound heterozygous mutations in the ETFDH gene (<a href="#0003">231675.0003</a>-<a href="#0005">231675.0005</a>). The A84T mutation (<a href="#0003">231675.0003</a>) was present in all 4 patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19249206" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 7 patients from 5 families with late-onset of an isolated myopathy associated with coenzyme Q10 deficiency, <a href="#3" class="mim-tip-reference" title="Gempel, K., Topaloglu, H., Talim, B., Schneiderat, P., Schoser, B. G. H., Hans, V. H., Palmafy, B., Kale, G., Tokatli, A., Quinzii, C., Hirano, M., Naini, A., DiMauro, S., Prokisch, H., Lochmuller, H., Horvath, R. <strong>The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene.</strong> Brain 130: 2037-2044, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17412732/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17412732</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17412732[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/brain/awm054" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17412732">Gempel et al. (2007)</a> identified homozygous or compound heterozygous mutations in the ETFDH gene (see, e.g., <a href="#0007">231675.0007</a> and <a href="#0008">231675.0008</a>). Two of the patients had previously been reported by <a href="#4" class="mim-tip-reference" title="Horvath, R., Schneiderat, P., Schoser, B. G. H., Gempel, K., Neuen-Jacob, E., Ploger, H., Muller-Hocker, J., Pongratz, D. E., Naini, A., DiMauro, S., Lochmuller, H. <strong>Coenzyme Q10 deficiency and isolated myopathy.</strong> Neurology 66: 253-255, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16434667/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16434667</a>] [<a href="https://doi.org/10.1212/01.wnl.0000194241.35115.7c" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16434667">Horvath et al. (2006)</a> as having primary coenzyme Q10 deficiency (see, e.g., COQ10D1, <a href="/entry/607426">607426</a>). All patients had increased levels of multiple acyl-CoA derivatives, and all showed marked improvement upon treatment with oral CoQ10 and/or riboflavin. <a href="#3" class="mim-tip-reference" title="Gempel, K., Topaloglu, H., Talim, B., Schneiderat, P., Schoser, B. G. H., Hans, V. H., Palmafy, B., Kale, G., Tokatli, A., Quinzii, C., Hirano, M., Naini, A., DiMauro, S., Prokisch, H., Lochmuller, H., Horvath, R. <strong>The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene.</strong> Brain 130: 2037-2044, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17412732/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17412732</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17412732[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/brain/awm054" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17412732">Gempel et al. (2007)</a> concluded that MADD due to ETFDH mutations can result in isolated myopathy with secondary coenzyme Q10 deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17412732+16434667" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a patient with late-onset glutaric acidemia IIC, who was originally reported by <a href="#5" class="mim-tip-reference" title="Lalani, S. R., Vladutiu, G. D., Plunkett, K., Lotze, T. E., Adesina, A. M., Scaglia, F. <strong>Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency.</strong> Arch. Neurol. 62: 317-320, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15710863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15710863</a>] [<a href="https://doi.org/10.1001/archneur.62.2.317" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15710863">Lalani et al. (2005)</a> with primary coenzyme Q10 deficiency (<a href="/entry/607426">607426</a>), <a href="#11" class="mim-tip-reference" title="Xiao, C., Astiazaran-Symonds, E., Basu, S., Kisling, M., Scaglia, F., Chapman, K. A., Wang, Y., Vockley, J., Ferreira, C. R. <strong>Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia type 2.</strong> Am. J. Med. Genet. 182A: 2426-2431, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32804429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32804429</a>] [<a href="https://doi.org/10.1002/ajmg.a.61786" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32804429">Xiao et al. (2020)</a> identified compound heterozygous mutations in the ETFDH gene (<a href="#0009">231675.0009</a>-<a href="#0010">231675.0010</a>). Western blot analysis in patient fibroblasts revealed decreased expression of the ETFHD, TFP-alpha (HADHA; <a href="/entry/600890">600890</a>), and VLCAD (<a href="/entry/609575">609575</a>) proteins, and minimally reduced TFP-beta (HADHB <a href="/entry/143450">143450</a>) protein compared to control samples. Mitochondrial superoxide was increased in patient fibroblasts, and steady-state ATP levels and maximal respiration-basal respiration were decreased. <a href="#11" class="mim-tip-reference" title="Xiao, C., Astiazaran-Symonds, E., Basu, S., Kisling, M., Scaglia, F., Chapman, K. A., Wang, Y., Vockley, J., Ferreira, C. R. <strong>Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia type 2.</strong> Am. J. Med. Genet. 182A: 2426-2431, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32804429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32804429</a>] [<a href="https://doi.org/10.1002/ajmg.a.61786" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32804429">Xiao et al. (2020)</a> concluded that these studies provided evidence for widespread mitochondrial dysfunction in this patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=32804429+15710863" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a patient with type IIC glutaric acidemia, also known as multiple acyl-CoA dehydrogenase deficiency (<a href="/entry/231680">231680</a>), <a href="#1" class="mim-tip-reference" title="Beard, S. E., Spector, E. B., Seltzer, W. K., Frerman, F. E., Goodman, S. I. <strong>Mutations in electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) in glutaric acidemia type II (GA2). (Abstract)</strong> Clin. Res. 41: 271A, 1993."None>Beard et al. (1993)</a> identified a T-to-C transition in the triplet encoding the initiator methionine of the ETFDH gene. The mutation resulted in total loss of enzyme activity and antigen.</p>
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<p>In an infant with the neonatal-onset form of glutaric acidemia IIC with congenital anomalies (<a href="/entry/231680">231680</a>), <a href="#9" class="mim-tip-reference" title="Olsen, R. K. J., Andresen, B. S., Christensen, E., Bross, P., Skovby, F., Gregersen, N. <strong>Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency.</strong> Hum. Mutat. 22: 12-23, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12815589/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12815589</a>] [<a href="https://doi.org/10.1002/humu.10226" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12815589">Olsen et al. (2003)</a> found homozygosity for a 1-bp deletion of 36A in the ETFDH gene, causing a frameshift beginning with ala12, introducing a stop codon at amino acid 19. The parents were consanguineous. The child died 1 hour after birth and showed Potter face, enlarged polycystic kidneys, symmetrical warty dysplasia of the cerebral cortex, bile duct hypoplasia, cholestasis, fatty degeneration of the liver, siderosis, lung hypoplasia, and steatosis of the myocardium. A second child in the family presented at birth with similar clinical and morphologic findings. The patient had been previously reported by <a href="#7" class="mim-tip-reference" title="Lehnert, W., Wendel, U., Lindenmaier, S., Bohm, N. <strong>Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two brothers. I. Clinical, metabolical, and biochemical findings</strong> Europ. J. Pediat. 139: 56-59, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7173259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7173259</a>] [<a href="https://doi.org/10.1007/BF00442081" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7173259">Lehnert et al. (1982)</a> and <a href="#2" class="mim-tip-reference" title="Bohm, N., Uy, J., Kiebling, M., Lehnert, W. <strong>Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two newborn brothers. II. Morphology and pathogenesis.</strong> Europ. J. Pediat. 139: 60-65, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7173260/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7173260</a>] [<a href="https://doi.org/10.1007/BF00442082" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7173260">Bohm et al. (1982)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7173260+12815589+7173259" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121964954 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121964954;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121964954?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121964954" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121964954" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012808 OR RCV000224728 OR RCV000553294 OR RCV003231099" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012808, RCV000224728, RCV000553294, RCV003231099" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012808...</a>
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<p>In 4 Taiwanese patients from 3 unrelated families with glutaric acidemia IIC (MADD; <a href="/entry/231680">231680</a>), <a href="#8" class="mim-tip-reference" title="Liang, W.-C., Ohkuma, A., Hayashi, Y. K., Lopez, L. C., Hirano, M., Nonaka, I., Noguchi, S., Chen, L.-H., Jong, Y.-J., Nishino, I. <strong>ETFDH mutations, CoQ-10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.</strong> Neuromusc. Disord. 19: 212-216, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19249206/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19249206</a>] [<a href="https://doi.org/10.1016/j.nmd.2009.01.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19249206">Liang et al. (2009)</a> 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; <a href="#0004">231675.0004</a>) substitution (2 sibs) or a 380T-A transversion, resulting in a leu127-to-his (L127H; <a href="#0005">231675.0005</a>) 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. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19249206" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Lan, M.-Y., Fu, M.-H., Liu, Y.-F., Huang, C.-C., Chang, Y.-Y., Liu, J.-S., Peng, C.-H., Chen, S.-S. <strong>High frequency of ETFDH c.250G-A mutation in Taiwanese patients with late-onset lipid storage myopathy.</strong> Clin. Genet. 78: 565-569, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20370797/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20370797</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2010.01421.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20370797">Lan et al. (2010)</a> 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; <a href="#0006">231675.0006</a>) substitution in a highly conserved residue in the FAD-binding domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20370797" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121964955 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121964955;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121964955?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121964955" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121964955" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012809 OR RCV002512994" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012809, RCV002512994" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012809...</a>
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<p>For discussion of the arg175-to-leu (R175L) mutation in the ETFDH gene that was found in compound heterozygous state in a patient with glutaric acidemia IIC (MADD; <a href="/entry/231680">231680</a>) by <a href="#8" class="mim-tip-reference" title="Liang, W.-C., Ohkuma, A., Hayashi, Y. K., Lopez, L. C., Hirano, M., Nonaka, I., Noguchi, S., Chen, L.-H., Jong, Y.-J., Nishino, I. <strong>ETFDH mutations, CoQ-10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.</strong> Neuromusc. Disord. 19: 212-216, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19249206/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19249206</a>] [<a href="https://doi.org/10.1016/j.nmd.2009.01.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19249206">Liang et al. (2009)</a>, see <a href="#0003">231675.0003</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19249206" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121964956 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121964956;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121964956?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121964956" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121964956" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000012810 OR RCV000721976" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000012810, RCV000721976" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000012810...</a>
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<p>For discussion of the leu127-to-his (L127H) mutation in the ETFDH gene that was found in compound heterozygous state in a patient with glutaric acidemia IIC (MADD; <a href="/entry/231680">231680</a>) by <a href="#8" class="mim-tip-reference" title="Liang, W.-C., Ohkuma, A., Hayashi, Y. K., Lopez, L. C., Hirano, M., Nonaka, I., Noguchi, S., Chen, L.-H., Jong, Y.-J., Nishino, I. <strong>ETFDH mutations, CoQ-10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.</strong> Neuromusc. Disord. 19: 212-216, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19249206/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19249206</a>] [<a href="https://doi.org/10.1016/j.nmd.2009.01.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19249206">Liang et al. (2009)</a>, see <a href="#0003">231675.0003</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19249206" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121964955 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121964955;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121964955?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121964955" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121964955" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000024282 OR RCV001216553 OR RCV001826506 OR RCV004589522" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000024282, RCV001216553, RCV001826506, RCV004589522" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000024282...</a>
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<p>For discussion of the arg175-to-his (R175H) mutation in the ETFDH gene that was found in compound heterozygous state in a patient with glutaric acidemia IIC (MADD; <a href="/entry/231680">231680</a>) by <a href="#8" class="mim-tip-reference" title="Liang, W.-C., Ohkuma, A., Hayashi, Y. K., Lopez, L. C., Hirano, M., Nonaka, I., Noguchi, S., Chen, L.-H., Jong, Y.-J., Nishino, I. <strong>ETFDH mutations, CoQ-10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.</strong> Neuromusc. Disord. 19: 212-216, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19249206/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19249206</a>] [<a href="https://doi.org/10.1016/j.nmd.2009.01.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19249206">Liang et al. (2009)</a>, see <a href="#0003">231675.0003</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19249206" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs387907170 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907170;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs387907170?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs387907170" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs387907170" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000024305 OR RCV000210651 OR RCV000578325 OR RCV001814011 OR RCV001831605" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000024305, RCV000210651, RCV000578325, RCV001814011, RCV001831605" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000024305...</a>
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<p>In 5 patients from 3 unrelated consanguineous families with MADD (<a href="/entry/231680">231680</a>), <a href="#3" class="mim-tip-reference" title="Gempel, K., Topaloglu, H., Talim, B., Schneiderat, P., Schoser, B. G. H., Hans, V. H., Palmafy, B., Kale, G., Tokatli, A., Quinzii, C., Hirano, M., Naini, A., DiMauro, S., Prokisch, H., Lochmuller, H., Horvath, R. <strong>The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene.</strong> Brain 130: 2037-2044, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17412732/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17412732</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17412732[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/brain/awm054" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17412732">Gempel et al. (2007)</a> identified a homozygous 1130T-C transition in the ETFDH gene, resulting in a leu377-to-pro (L377P) substitution in a conserved residue in the C terminus. The mutation was not found in 50 normal controls. Two of the families were of Turkish origin and 1 was Kurdish. The phenotype was homogeneous, with an age of onset ranging from early teens to young adulthood. All patients had exercise intolerance and proximal muscle weakness, often with cramping, hyporeflexia, and increased serum creatine kinase. Muscle biopsies showed myopathy with small vacuoles in most type I fibers, lipid droplets, and decreased levels of coenzyme Q10. There was also decreased activity of respiratory complex I+III and II+III. Laboratory studies showed increased levels of multiple acyl-CoA derivatives. All patients had a favorable response to treatment with CoQ10 and/or riboflavin. One of the patients had previously been reported by <a href="#4" class="mim-tip-reference" title="Horvath, R., Schneiderat, P., Schoser, B. G. H., Gempel, K., Neuen-Jacob, E., Ploger, H., Muller-Hocker, J., Pongratz, D. E., Naini, A., DiMauro, S., Lochmuller, H. <strong>Coenzyme Q10 deficiency and isolated myopathy.</strong> Neurology 66: 253-255, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16434667/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16434667</a>] [<a href="https://doi.org/10.1212/01.wnl.0000194241.35115.7c" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16434667">Horvath et al. (2006)</a> as having myopathic coenzyme Q deficiency (see, e.g., COQ10D1, <a href="/entry/607426">607426</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17412732+16434667" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0008 GLUTARIC ACIDEMIA IIC, LATE-ONSET</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs377656387 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs377656387;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs377656387?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs377656387" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs377656387" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a 13-year-old girl, born of consanguineous Turkish parents, with MADD (<a href="/entry/231680">231680</a>), <a href="#3" class="mim-tip-reference" title="Gempel, K., Topaloglu, H., Talim, B., Schneiderat, P., Schoser, B. G. H., Hans, V. H., Palmafy, B., Kale, G., Tokatli, A., Quinzii, C., Hirano, M., Naini, A., DiMauro, S., Prokisch, H., Lochmuller, H., Horvath, R. <strong>The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene.</strong> Brain 130: 2037-2044, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17412732/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17412732</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17412732[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/brain/awm054" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17412732">Gempel et al. (2007)</a> identified a homozygous 1448C-T transition in the ETFDH gene, resulting in a pro483-to-leu (P483L) substitution in a conserved residue. The patient presented at age 12 years with muscle weakness, myalgia, and loss of ambulation associated with increased serum creatine kinase. Muscle biopsy showed myopathy with small vacuoles in most type I fibers, lipid droplets, and decreased levels of coenzyme Q10. There was also decreased activity of respiratory complex I+III and II+III. Laboratory studies showed accumulation of acyl-CoA derivatives. Treatment with riboflavin resulted in complete resolution of muscle symptoms. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17412732" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0009 GLUTARIC ACIDEMIA IIC, LATE-ONSET</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs1482632936 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1482632936;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs1482632936?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1482632936" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1482632936" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV001533540 OR RCV001882597" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001533540, RCV001882597" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001533540...</a>
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<p>In a patient with glutaric acidemia IIC (MADD; <a href="/entry/231680">231680</a>), <a href="#11" class="mim-tip-reference" title="Xiao, C., Astiazaran-Symonds, E., Basu, S., Kisling, M., Scaglia, F., Chapman, K. A., Wang, Y., Vockley, J., Ferreira, C. R. <strong>Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia type 2.</strong> Am. J. Med. Genet. 182A: 2426-2431, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32804429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32804429</a>] [<a href="https://doi.org/10.1002/ajmg.a.61786" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32804429">Xiao et al. (2020)</a> identified compound heterozygous mutations in the ETFDH gene, a previously reported c.665A-C transversion, resulting in a gln222-to-pro (Q222P) substitution, and a c.946G-T transversion, resulting in a gly322-to-cys (G322C; 231675.0010) substitution at a highly conserved residue. The mutations were identified by direct sequencing of the ETFDH gene. The G322C mutation was not present in the gnomAD database. and the Q222P was previously reported as pathogenic in MADD. The Q222P is predicted to be in the FAD-binding domain, and the G322C is predicted to be in the ubiquinone-binding domain. Western blot analysis in patient fibroblasts revealed decreased expression of the ETFHD, TFP-alpha (<a href="/entry/600890">600890</a>), and VLCAD (<a href="/entry/609575">609575</a>) proteins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32804429" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2150311734 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2150311734;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs2150311734" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs2150311734" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV001533541" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001533541" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001533541</a>
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<p>For discussion of the c.946G-T transversion in the ETFHD gene, resulting in a gly322-to-cys (G322C) substitution, that was found in compound heterozygous state in a patient with glutaric acidemia II (MADD; <a href="/entry/231680">231680</a>) by <a href="#11" class="mim-tip-reference" title="Xiao, C., Astiazaran-Symonds, E., Basu, S., Kisling, M., Scaglia, F., Chapman, K. A., Wang, Y., Vockley, J., Ferreira, C. R. <strong>Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia type 2.</strong> Am. J. Med. Genet. 182A: 2426-2431, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32804429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32804429</a>] [<a href="https://doi.org/10.1002/ajmg.a.61786" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32804429">Xiao et al. (2020)</a>, see <a href="#0009">231675.0009</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32804429" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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Beard, S. E., Spector, E. B., Seltzer, W. K., Frerman, F. E., Goodman, S. I.
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<strong>Mutations in electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) in glutaric acidemia type II (GA2). (Abstract)</strong>
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Clin. Res. 41: 271A, 1993.
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Bohm, N., Uy, J., Kiebling, M., Lehnert, W.
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<strong>Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two newborn brothers. II. Morphology and pathogenesis.</strong>
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Europ. J. Pediat. 139: 60-65, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7173260/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7173260</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7173260" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00442082" target="_blank">Full Text</a>]
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<li>
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<a id="3" class="mim-anchor"></a>
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<a id="Gempel2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Gempel, K., Topaloglu, H., Talim, B., Schneiderat, P., Schoser, B. G. H., Hans, V. H., Palmafy, B., Kale, G., Tokatli, A., Quinzii, C., Hirano, M., Naini, A., DiMauro, S., Prokisch, H., Lochmuller, H., Horvath, R.
|
|
<strong>The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene.</strong>
|
|
Brain 130: 2037-2044, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17412732/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17412732</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17412732[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17412732" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/brain/awm054" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Horvath2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Horvath, R., Schneiderat, P., Schoser, B. G. H., Gempel, K., Neuen-Jacob, E., Ploger, H., Muller-Hocker, J., Pongratz, D. E., Naini, A., DiMauro, S., Lochmuller, H.
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|
<strong>Coenzyme Q10 deficiency and isolated myopathy.</strong>
|
|
Neurology 66: 253-255, 2006.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16434667/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16434667</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16434667" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000194241.35115.7c" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Lalani2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lalani, S. R., Vladutiu, G. D., Plunkett, K., Lotze, T. E., Adesina, A. M., Scaglia, F.
|
|
<strong>Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency.</strong>
|
|
Arch. Neurol. 62: 317-320, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15710863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15710863</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15710863" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1001/archneur.62.2.317" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Lan2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lan, M.-Y., Fu, M.-H., Liu, Y.-F., Huang, C.-C., Chang, Y.-Y., Liu, J.-S., Peng, C.-H., Chen, S.-S.
|
|
<strong>High frequency of ETFDH c.250G-A mutation in Taiwanese patients with late-onset lipid storage myopathy.</strong>
|
|
Clin. Genet. 78: 565-569, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20370797/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20370797</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20370797" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.2010.01421.x" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Lehnert1982" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lehnert, W., Wendel, U., Lindenmaier, S., Bohm, N.
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|
<strong>Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two brothers. I. Clinical, metabolical, and biochemical findings</strong>
|
|
Europ. J. Pediat. 139: 56-59, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7173259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7173259</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7173259" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00442081" target="_blank">Full Text</a>]
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Liang2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Liang, W.-C., Ohkuma, A., Hayashi, Y. K., Lopez, L. C., Hirano, M., Nonaka, I., Noguchi, S., Chen, L.-H., Jong, Y.-J., Nishino, I.
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|
<strong>ETFDH mutations, CoQ-10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.</strong>
|
|
Neuromusc. Disord. 19: 212-216, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19249206/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19249206</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19249206" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.nmd.2009.01.008" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Olsen2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Olsen, R. K. J., Andresen, B. S., Christensen, E., Bross, P., Skovby, F., Gregersen, N.
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<strong>Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency.</strong>
|
|
Hum. Mutat. 22: 12-23, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12815589/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12815589</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12815589" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.10226" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="White1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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White, R. A., Dowler, L. L., Angeloni, S. V., Koeller, D. M.
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<strong>Assignment of Etfdh, Etfb, and Etfa to chromosomes 3, 7, and 13: the mouse homologs of genes responsible for glutaric acidemia type II in human.</strong>
|
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Genomics 33: 131-134, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8617498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8617498</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8617498" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.1996.0170" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Xiao2020" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Xiao, C., Astiazaran-Symonds, E., Basu, S., Kisling, M., Scaglia, F., Chapman, K. A., Wang, Y., Vockley, J., Ferreira, C. R.
|
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<strong>Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia type 2.</strong>
|
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Am. J. Med. Genet. 182A: 2426-2431, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32804429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32804429</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32804429" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.61786" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 07/12/2021
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 5/23/2012<br>Cassandra L. Kniffin - updated : 5/17/2012<br>Cassandra L. Kniffin - updated : 11/3/2009<br>Victor A. McKusick - updated : 8/18/2003
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 5/21/1993
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 07/16/2021
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 07/12/2021<br>carol : 05/25/2012<br>terry : 5/25/2012<br>ckniffin : 5/23/2012<br>carol : 5/17/2012<br>ckniffin : 5/17/2012<br>carol : 7/27/2011<br>wwang : 11/19/2009<br>ckniffin : 11/3/2009<br>terry : 4/20/2005<br>terry : 4/6/2005<br>terry : 3/16/2005<br>terry : 2/10/2005<br>mgross : 8/19/2003<br>mgross : 8/19/2003<br>terry : 8/18/2003<br>carol : 12/13/1998<br>mark : 4/17/1996<br>terry : 4/10/1996<br>warfield : 4/15/1994<br>mimadm : 3/11/1994<br>carol : 10/11/1993<br>carol : 6/21/1993<br>carol : 5/21/1993
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 231675
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</span>
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</h3>
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</div>
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<div>
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<h3>
|
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<span class="mim-font">
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ELECTRON TRANSFER FLAVOPROTEIN DEHYDROGENASE; ETFDH
|
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
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ELECTRON TRANSFER FLAVOPROTEIN:UBIQUINONE OXIDOREDUCTASE; ETFQO
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
|
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<strong><em>HGNC Approved Gene Symbol: ETFDH</em></strong>
|
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
|
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<em>
|
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Cytogenetic location: 4q32.1
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 4:158,672,296-158,709,623 </span>
|
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</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
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<th>
|
|
Phenotype
|
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</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
4q32.1
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Glutaric acidemia IIC
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
231680
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
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</td>
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|
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Electron transfer flavoprotein (ETF) exists in the mitochondrial matrix as a heterodimer of 30-kD alpha subunits (ETFA; 608053) and 28-kD beta subunits (ETFB; 130410) and contains 1 flavin adenine dinucleotide (FAD) and 1 adenosine 5-prime monophosphate (AMP) per heterodimer. ETFDH, a 64-kD monomer integrated in the inner mitochondrial membrane, contains 1 molecule of FAD and a 4Fe-4S cluster. Both enzymes are required for electron transfer from at least 9 mitochondrial flavin-containing dehydrogenases to the main respiratory chain. Multiple acyl-CoA dehydrogenation deficiency (MADD; 231680), also known as glutaric acidemia II or glutaric aciduria II, can be caused by mutation in any of the 3 ETF genes. The disorders resulting from defects in the ETFA, ETFB, and ETFDH genes are referred to as glutaric acidemia IIA, IIB, and IIC, respectively, although there appears to be no difference in the clinical phenotypes.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Olsen et al. (2003) determined that the ETFDH gene contains 13 exons. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By analysis of mouse/human and CHO/human hybrid panels and by in situ hybridization, Beard et al. (1993) demonstrated that the ETFDH gene is located on 4q32-qter. White et al. (1996) demonstrated that the corresponding gene is located on mouse chromosome 3. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In 4 patients with multiple acyl-CoA dehydrogenase deficiency (MADD; 231680), also known as glutaric acidemia IIC, Beard et al. (1993) identified 5 mutations in the ETFDH gene (see, e.g., 231675.0001). All 5 mutations were rare and caused total lack of enzyme activity and antigen.</p><p>In 4 Taiwanese patients from 3 unrelated families with MADD, Liang et al. (2009) identified homozygous or compound heterozygous mutations in the ETFDH gene (231675.0003-231675.0005). The A84T mutation (231675.0003) was present in all 4 patients. </p><p>In 7 patients from 5 families with late-onset of an isolated myopathy associated with coenzyme Q10 deficiency, Gempel et al. (2007) identified homozygous or compound heterozygous mutations in the ETFDH gene (see, e.g., 231675.0007 and 231675.0008). Two of the patients had previously been reported by Horvath et al. (2006) as having primary coenzyme Q10 deficiency (see, e.g., COQ10D1, 607426). All patients had increased levels of multiple acyl-CoA derivatives, and all showed marked improvement upon treatment with oral CoQ10 and/or riboflavin. Gempel et al. (2007) concluded that MADD due to ETFDH mutations can result in isolated myopathy with secondary coenzyme Q10 deficiency. </p><p>In a patient with late-onset glutaric acidemia IIC, who was originally reported by Lalani et al. (2005) with primary coenzyme Q10 deficiency (607426), Xiao et al. (2020) identified compound heterozygous mutations in the ETFDH gene (231675.0009-231675.0010). Western blot analysis in patient fibroblasts revealed decreased expression of the ETFHD, TFP-alpha (HADHA; 600890), and VLCAD (609575) proteins, and minimally reduced TFP-beta (HADHB 143450) protein compared to control samples. Mitochondrial superoxide was increased in patient fibroblasts, and steady-state ATP levels and maximal respiration-basal respiration were decreased. Xiao et al. (2020) concluded that these studies provided evidence for widespread mitochondrial dysfunction in this patient. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>10 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 GLUTARIC ACIDEMIA IIC</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ETFDH, MET1THR
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<br />
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SNP: rs121964953,
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ClinVar: RCV000012806, RCV002512993
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient with type IIC glutaric acidemia, also known as multiple acyl-CoA dehydrogenase deficiency (231680), Beard et al. (1993) identified a T-to-C transition in the triplet encoding the initiator methionine of the ETFDH gene. The mutation resulted in total loss of enzyme activity and antigen.</p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0002 GLUTARIC ACIDEMIA IIC</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ETFDH, 1-BP DEL, 36A
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<br />
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SNP: rs2150304327,
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ClinVar: RCV000012807, RCV003473080
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In an infant with the neonatal-onset form of glutaric acidemia IIC with congenital anomalies (231680), Olsen et al. (2003) found homozygosity for a 1-bp deletion of 36A in the ETFDH gene, causing a frameshift beginning with ala12, introducing a stop codon at amino acid 19. The parents were consanguineous. The child died 1 hour after birth and showed Potter face, enlarged polycystic kidneys, symmetrical warty dysplasia of the cerebral cortex, bile duct hypoplasia, cholestasis, fatty degeneration of the liver, siderosis, lung hypoplasia, and steatosis of the myocardium. A second child in the family presented at birth with similar clinical and morphologic findings. The patient had been previously reported by Lehnert et al. (1982) and Bohm et al. (1982). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0003 GLUTARIC ACIDEMIA IIC</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ETFDH, ALA84THR
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<br />
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SNP: rs121964954,
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gnomAD: rs121964954,
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ClinVar: RCV000012808, RCV000224728, RCV000553294, RCV003231099
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</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>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. </p><p>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. </p>
|
|
</span>
|
|
</div>
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<div>
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|
<br />
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 GLUTARIC ACIDEMIA IIC</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
|
|
ETFDH, ARG175LEU
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|
|
<br />
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|
|
SNP: rs121964955,
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|
|
gnomAD: rs121964955,
|
|
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|
|
ClinVar: RCV000012809, RCV002512994
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|
|
|
|
|
</span>
|
|
</div>
|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the arg175-to-leu (R175L) mutation in the ETFDH gene that was found in compound heterozygous state in a patient with glutaric acidemia IIC (MADD; 231680) by Liang et al. (2009), see 231675.0003. </p>
|
|
</span>
|
|
</div>
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<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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|
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 GLUTARIC ACIDEMIA IIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ETFDH, LEU127HIS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121964956,
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|
|
|
|
|
gnomAD: rs121964956,
|
|
|
|
|
|
ClinVar: RCV000012810, RCV000721976
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the leu127-to-his (L127H) mutation in the ETFDH gene that was found in compound heterozygous state in a patient with glutaric acidemia IIC (MADD; 231680) by Liang et al. (2009), see 231675.0003. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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<div>
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 GLUTARIC ACIDEMIA IIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ETFDH, ARG175HIS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121964955,
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|
|
|
|
|
gnomAD: rs121964955,
|
|
|
|
|
|
ClinVar: RCV000024282, RCV001216553, RCV001826506, RCV004589522
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the arg175-to-his (R175H) mutation in the ETFDH gene that was found in compound heterozygous state in a patient with glutaric acidemia IIC (MADD; 231680) by Liang et al. (2009), see 231675.0003. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 GLUTARIC ACIDEMIA IIC, LATE-ONSET</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
ETFDH, LEU377PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs387907170,
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|
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gnomAD: rs387907170,
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|
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ClinVar: RCV000024305, RCV000210651, RCV000578325, RCV001814011, RCV001831605
|
|
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|
|
|
</span>
|
|
</div>
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|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 5 patients from 3 unrelated consanguineous families with MADD (231680), Gempel et al. (2007) identified a homozygous 1130T-C transition in the ETFDH gene, resulting in a leu377-to-pro (L377P) substitution in a conserved residue in the C terminus. The mutation was not found in 50 normal controls. Two of the families were of Turkish origin and 1 was Kurdish. The phenotype was homogeneous, with an age of onset ranging from early teens to young adulthood. All patients had exercise intolerance and proximal muscle weakness, often with cramping, hyporeflexia, and increased serum creatine kinase. Muscle biopsies showed myopathy with small vacuoles in most type I fibers, lipid droplets, and decreased levels of coenzyme Q10. There was also decreased activity of respiratory complex I+III and II+III. Laboratory studies showed increased levels of multiple acyl-CoA derivatives. All patients had a favorable response to treatment with CoQ10 and/or riboflavin. One of the patients had previously been reported by Horvath et al. (2006) as having myopathic coenzyme Q deficiency (see, e.g., COQ10D1, 607426). </p>
|
|
</span>
|
|
</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 GLUTARIC ACIDEMIA IIC, LATE-ONSET</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
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|
|
ETFDH, PRO483LEU
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<br />
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|
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SNP: rs377656387,
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gnomAD: rs377656387,
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ClinVar: RCV000024306, RCV000634896, RCV001250164, RCV001831606, RCV002054473
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|
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</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 13-year-old girl, born of consanguineous Turkish parents, with MADD (231680), Gempel et al. (2007) identified a homozygous 1448C-T transition in the ETFDH gene, resulting in a pro483-to-leu (P483L) substitution in a conserved residue. The patient presented at age 12 years with muscle weakness, myalgia, and loss of ambulation associated with increased serum creatine kinase. Muscle biopsy showed myopathy with small vacuoles in most type I fibers, lipid droplets, and decreased levels of coenzyme Q10. There was also decreased activity of respiratory complex I+III and II+III. Laboratory studies showed accumulation of acyl-CoA derivatives. Treatment with riboflavin resulted in complete resolution of muscle symptoms. </p>
|
|
</span>
|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
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</div>
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<div>
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 GLUTARIC ACIDEMIA IIC, LATE-ONSET</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
ETFDH, GLN222PRO
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|
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<br />
|
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|
|
SNP: rs1482632936,
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|
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gnomAD: rs1482632936,
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ClinVar: RCV001533540, RCV001882597
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|
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|
|
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with glutaric acidemia IIC (MADD; 231680), Xiao et al. (2020) identified compound heterozygous mutations in the ETFDH gene, a previously reported c.665A-C transversion, resulting in a gln222-to-pro (Q222P) substitution, and a c.946G-T transversion, resulting in a gly322-to-cys (G322C; 231675.0010) substitution at a highly conserved residue. The mutations were identified by direct sequencing of the ETFDH gene. The G322C mutation was not present in the gnomAD database. and the Q222P was previously reported as pathogenic in MADD. The Q222P is predicted to be in the FAD-binding domain, and the G322C is predicted to be in the ubiquinone-binding domain. Western blot analysis in patient fibroblasts revealed decreased expression of the ETFHD, TFP-alpha (600890), and VLCAD (609575) proteins. </p>
|
|
</span>
|
|
</div>
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<div>
|
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<br />
|
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 GLUTARIC ACIDEMIA IIC, LATE-ONSET</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<span class="mim-text-font">
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ETFDH, GLY322CYS
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<br />
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SNP: rs2150311734,
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ClinVar: RCV001533541
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<p>For discussion of the c.946G-T transversion in the ETFHD gene, resulting in a gly322-to-cys (G322C) substitution, that was found in compound heterozygous state in a patient with glutaric acidemia II (MADD; 231680) by Xiao et al. (2020), see 231675.0009. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<p class="mim-text-font">
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Beard, S. E., Spector, E. B., Seltzer, W. K., Frerman, F. E., Goodman, S. I.
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<strong>Mutations in electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) in glutaric acidemia type II (GA2). (Abstract)</strong>
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Clin. Res. 41: 271A, 1993.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Bohm, N., Uy, J., Kiebling, M., Lehnert, W.
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<strong>Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two newborn brothers. II. Morphology and pathogenesis.</strong>
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Europ. J. Pediat. 139: 60-65, 1982.
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[PubMed: 7173260]
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[Full Text: https://doi.org/10.1007/BF00442082]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Gempel, K., Topaloglu, H., Talim, B., Schneiderat, P., Schoser, B. G. H., Hans, V. H., Palmafy, B., Kale, G., Tokatli, A., Quinzii, C., Hirano, M., Naini, A., DiMauro, S., Prokisch, H., Lochmuller, H., Horvath, R.
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<strong>The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene.</strong>
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Brain 130: 2037-2044, 2007.
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[PubMed: 17412732]
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[Full Text: https://doi.org/10.1093/brain/awm054]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Horvath, R., Schneiderat, P., Schoser, B. G. H., Gempel, K., Neuen-Jacob, E., Ploger, H., Muller-Hocker, J., Pongratz, D. E., Naini, A., DiMauro, S., Lochmuller, H.
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<strong>Coenzyme Q10 deficiency and isolated myopathy.</strong>
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Neurology 66: 253-255, 2006.
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[PubMed: 16434667]
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[Full Text: https://doi.org/10.1212/01.wnl.0000194241.35115.7c]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Lalani, S. R., Vladutiu, G. D., Plunkett, K., Lotze, T. E., Adesina, A. M., Scaglia, F.
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<strong>Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency.</strong>
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Arch. Neurol. 62: 317-320, 2005.
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[PubMed: 15710863]
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[Full Text: https://doi.org/10.1001/archneur.62.2.317]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Lan, M.-Y., Fu, M.-H., Liu, Y.-F., Huang, C.-C., Chang, Y.-Y., Liu, J.-S., Peng, C.-H., Chen, S.-S.
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<strong>High frequency of ETFDH c.250G-A mutation in Taiwanese patients with late-onset lipid storage myopathy.</strong>
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Clin. Genet. 78: 565-569, 2010.
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[PubMed: 20370797]
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[Full Text: https://doi.org/10.1111/j.1399-0004.2010.01421.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Lehnert, W., Wendel, U., Lindenmaier, S., Bohm, N.
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<strong>Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two brothers. I. Clinical, metabolical, and biochemical findings</strong>
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Europ. J. Pediat. 139: 56-59, 1982.
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[PubMed: 7173259]
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[Full Text: https://doi.org/10.1007/BF00442081]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Liang, W.-C., Ohkuma, A., Hayashi, Y. K., Lopez, L. C., Hirano, M., Nonaka, I., Noguchi, S., Chen, L.-H., Jong, Y.-J., Nishino, I.
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<strong>ETFDH mutations, CoQ-10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.</strong>
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Neuromusc. Disord. 19: 212-216, 2009.
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[PubMed: 19249206]
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[Full Text: https://doi.org/10.1016/j.nmd.2009.01.008]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Olsen, R. K. J., Andresen, B. S., Christensen, E., Bross, P., Skovby, F., Gregersen, N.
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<strong>Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency.</strong>
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Hum. Mutat. 22: 12-23, 2003.
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[PubMed: 12815589]
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[Full Text: https://doi.org/10.1002/humu.10226]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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White, R. A., Dowler, L. L., Angeloni, S. V., Koeller, D. M.
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<strong>Assignment of Etfdh, Etfb, and Etfa to chromosomes 3, 7, and 13: the mouse homologs of genes responsible for glutaric acidemia type II in human.</strong>
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Genomics 33: 131-134, 1996.
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[PubMed: 8617498]
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[Full Text: https://doi.org/10.1006/geno.1996.0170]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Xiao, C., Astiazaran-Symonds, E., Basu, S., Kisling, M., Scaglia, F., Chapman, K. A., Wang, Y., Vockley, J., Ferreira, C. R.
|
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<strong>Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia type 2.</strong>
|
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Am. J. Med. Genet. 182A: 2426-2431, 2020.
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[PubMed: 32804429]
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[Full Text: https://doi.org/10.1002/ajmg.a.61786]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 07/12/2021<br>Cassandra L. Kniffin - updated : 5/23/2012<br>Cassandra L. Kniffin - updated : 5/17/2012<br>Cassandra L. Kniffin - updated : 11/3/2009<br>Victor A. McKusick - updated : 8/18/2003
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</span>
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 5/21/1993
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carol : 07/16/2021<br>carol : 07/12/2021<br>carol : 05/25/2012<br>terry : 5/25/2012<br>ckniffin : 5/23/2012<br>carol : 5/17/2012<br>ckniffin : 5/17/2012<br>carol : 7/27/2011<br>wwang : 11/19/2009<br>ckniffin : 11/3/2009<br>terry : 4/20/2005<br>terry : 4/6/2005<br>terry : 3/16/2005<br>terry : 2/10/2005<br>mgross : 8/19/2003<br>mgross : 8/19/2003<br>terry : 8/18/2003<br>carol : 12/13/1998<br>mark : 4/17/1996<br>terry : 4/10/1996<br>warfield : 4/15/1994<br>mimadm : 3/11/1994<br>carol : 10/11/1993<br>carol : 6/21/1993<br>carol : 5/21/1993
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