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Entry
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- *590070 - TRANSFER RNA, MITOCHONDRIAL, PHENYLALANINE; MTTF
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- OMIM
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<p>
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<span class="h4">*590070</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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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="#geneFunction">Gene Function</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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</li>
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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/590070">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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<a href="#editHistory"><strong>Edit History</strong></a>
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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 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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<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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<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=ENSG00000210049;t=-" 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://mitomap.org/bin/view.pl/Main/SearchSite?search=MT-TF" class="mim-tip-hint" title="A curated repository of published and unpublished data on human mitochondrial DNA variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MITOMAP', 'domain': 'mitomap.org'})">MITOMAP</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=4558" 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=590070" 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 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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<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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<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=ENSG00000210049;t=-" 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</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=590070" 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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<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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<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://www.proteinatlas.org/search/MT-TF" 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 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 class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=4558" 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=ENSG00000210049;t=-" 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=MT-TF" 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=MT-TF" 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+4558" 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/MT-TF" 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:4558" 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/4558" 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>
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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/genes/HGNC:7481" 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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=590070[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 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=590070[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/ENSG00000210049" 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.gwascentral.org/search?q=MT-TF" 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=MT-TF" 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=MT-TF&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/PA31284" 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 style="display: table-cell;">Animal Models</div>
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<div><a href="https://www.alliancegenome.org/gene/HGNC:7481" 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://www.mousephenotype.org/data/genes/MGI:102487" 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/MT-TF#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:102487" 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/4558/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://www.orthodb.org/?ncbi=4558" 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://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:4558" 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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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 230426003, 39925003, 428255004<br />
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<strong>ICD10CM:</strong> E88.41, E88.42, N10-N16, N15.9, N16<br />
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">ICD+</a>
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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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590070
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TRANSFER RNA, MITOCHONDRIAL, PHENYLALANINE; MTTF
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tRNA-PHE, MITOCHONDRIAL
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=MT-TF" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">MT-TF</a></em></strong>
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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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<p>The mitochondrial tRNA for phenylalanine is encoded by nucleotides 577-647.</p>
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<p><a href="#10" class="mim-tip-reference" title="Zaganelli, S., Rebelo-Guiomar, P., Maundrell, K., Rozanska, A., Pierredon, S., Powell, C. A., Jourdain, A. A., Hulo, N., Lightowlers, R. N., Chrzanowska-Lightowlers, Z. M., Minczuk, M., Martinou, J.-C. <strong>The pseudouridine synthase RPUSD4 is an essential component of mitochondrial RNA granules.</strong> J. Biol. Chem. 292: 4519-4532, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28082677/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28082677</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28082677[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/10.1074/jbc.M116.771105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28082677">Zaganelli et al. (2017)</a> found that RPUSD4 (<a href="/entry/617488">617488</a>) coprecipitated with mitochondrial tRNA(phe) and mitochondrial tRNA(met) (MTTM; <a href="/entry/590065">590065</a>) and bound specifically to the pseudouridine at universal tRNA sites 39 and 50. Depletion of RPUSD4 significantly reduced pseudouridine-39 in mitochondrial tRNA(phe), but not in mitochondrial tRNA(gly) (MTTG; <a href="/entry/590035">590035</a>). The pseudouridines in mitochondrial tRNA(met) were unaffected by RPUSD4 depletion. RPUSD4 depletion had no effect on mitochondrial tRNA(phe) steady-state levels or aminoacylation. <a href="#10" class="mim-tip-reference" title="Zaganelli, S., Rebelo-Guiomar, P., Maundrell, K., Rozanska, A., Pierredon, S., Powell, C. A., Jourdain, A. A., Hulo, N., Lightowlers, R. N., Chrzanowska-Lightowlers, Z. M., Minczuk, M., Martinou, J.-C. <strong>The pseudouridine synthase RPUSD4 is an essential component of mitochondrial RNA granules.</strong> J. Biol. Chem. 292: 4519-4532, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28082677/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28082677</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28082677[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/10.1074/jbc.M116.771105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28082677">Zaganelli et al. (2017)</a> concluded that RPUSD4 is responsible for formation of pseudouridine-39 in mitochondrial tRNA(phe). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28082677" 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>Molecular Genetics</strong>
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<p>In patients with MELAS syndrome (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) (<a href="/entry/540000">540000</a>), <a href="#3" class="mim-tip-reference" title="Hanna, M. G., Nelson, I. P., Morgan-Hughes, J. A., Wood, N. W. <strong>MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity.</strong> J. Neurol. Neurosurg. Psychiat. 65: 512-517, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9771776/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9771776</a>] [<a href="https://doi.org/10.1136/jnnp.65.4.512" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9771776">Hanna et al. (1998)</a> and <a href="#5" class="mim-tip-reference" title="Mancuso, M., Filosto, M., Mootha, V. K., Rocchi, A., Pistolesi, S., Murri, L., DiMauro, S., Siciliano, G. <strong>A novel mitochondrial tRNA-phe mutation causes MERRF syndrome.</strong> Neurology 62: 2119-2121, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15184630/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15184630</a>] [<a href="https://doi.org/10.1212/01.wnl.0000127608.48406.f1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15184630">Mancuso et al. (2004)</a> identified mutations in the MTTF gene (<a href="#0001">590070.0001</a> and <a href="#0002">590070.0002</a>, respectively). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9771776+15184630" 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>By in vitro studies, <a href="#4" class="mim-tip-reference" title="Ling, J., Roy, H., Qin, D., Rubio, M. A. T., Alfonzo, J. D., Fredrick, K., Ibba, M. <strong>Pathogenic mechanism of a human mitochondrial tRNA-Phe mutation associated with myoclonic epilepsy with ragged red fibers syndrome.</strong> Proc. Nat. Acad. Sci. 104: 15299-15304, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17878308/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17878308</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17878308[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/10.1073/pnas.0704441104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17878308">Ling et al. (2007)</a> found that different pathogenic mutations in the MTTF gene resulted in aminoacylation defects, primarily by affecting the secondary or tertiary structure of the protein. The exception was the G34A mutation (<a href="#0002">590070.0002</a>), which was not involved in global structure but resulted in decreased aminoacylation because it affected the tRNA anticodon. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17878308" 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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<span id="mimAllelicVariantsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>7 Selected Examples</a>):</strong>
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<a href="/allelicVariants/590070" class="btn btn-default" role="button"> Table View </a>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=590070[MIM]" class="btn btn-default mim-tip-hint" role="button" 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>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs118203885 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs118203885;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=rs118203885" 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=rs118203885" 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=RCV000010186 OR RCV003153296" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010186, RCV003153296" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010186...</a>
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<p><a href="#7" class="mim-tip-reference" title="Shapira, Y., Cederbaum, S. D., Cancilla, P. A., Nielsen, D., Lippe, B. M. <strong>Familial poliodystrophy, mitochondrial myopathy, and lactic acidemia.</strong> Neurology 25: 614-621, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1171391/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1171391</a>] [<a href="https://doi.org/10.1212/wnl.25.7.614" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1171391">Shapira et al. (1975)</a> provided the first description of a disorder that includes stroke-like episodes, lactic acidemia, and ragged-red fibers. <a href="#6" class="mim-tip-reference" title="Pavlakis, S. G., Phillips, P. C., DiMauro, S., De Vivo, D. C., Rowland, L. P. <strong>Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome.</strong> Ann. Neurol. 16: 481-488, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6093682/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6093682</a>] [<a href="https://doi.org/10.1002/ana.410160409" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6093682">Pavlakis et al. (1984)</a> described further cases, introduced the acronym MELAS (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) (<a href="/entry/540000">540000</a>), and suggested that this represents a distinct mitochondrial disorder. <a href="#2" class="mim-tip-reference" title="Goto, Y., Nonaka, I., Horai, S. <strong>A mutation in the tRNA-leu (UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.</strong> Nature 348: 651-653, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2102678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2102678</a>] [<a href="https://doi.org/10.1038/348651a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2102678">Goto et al. (1990)</a> identified a point mutation in the gene encoding mtRNA leucine (UUR) (MTTL1; <a href="/entry/590050#0001">590050.0001</a>) in some patients with MELAS. <a href="#3" class="mim-tip-reference" title="Hanna, M. G., Nelson, I. P., Morgan-Hughes, J. A., Wood, N. W. <strong>MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity.</strong> J. Neurol. Neurosurg. Psychiat. 65: 512-517, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9771776/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9771776</a>] [<a href="https://doi.org/10.1136/jnnp.65.4.512" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9771776">Hanna et al. (1998)</a> analyzed the sequence of mitochondrial DNA in 5 patients with the MELAS phenotype. In one of the patients, a novel heteroplasmic mitochondrial DNA mutation was identified in the tRNA gene for phenylalanine in skeletal muscle. This mutation was not detected in the patient's blood or in her mother's blood. No pathogenic mutations were identified in the other patients. The mutation was a G-to-A transition at position 583 in the aminoacyl acceptor stem region of the MTTF gene. The proportion of the 583G-A mutation in the patient's muscle was 58%. Evolutionary comparisons showed that the 583G-A nucleotide is highly conserved. The patient was a 32-year-old woman who developed normally until the age of 12 years when she had an acute episode of headache, photophobia, vomiting, and left arm focal motor fitting from which she fully recovered. She experienced 2 further similar episodes and after the second developed a dense left hemiplegia which subsequently resolved. There followed progressive cognitive decline, cerebellar ataxia, and complex partial seizures. At the age of 29 years, a salt and pepper type retinopathy, cerebellar ataxia, mild spasticity in all 4 limbs, and intermittent dystonic posturing of her upper limbs as she walked were found. There was no limb weakness. Brain CT showed extensive low density areas involving both gray and white matter, most marked posteriorly. These were consistent with areas of infarction. Plasma lactate was raised. Muscle biopsy at age 12 years showed 3% ragged-red fibers. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6093682+2102678+1171391+9771776" 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>.0002 MERRF SYNDROME</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">rs118203886 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs118203886;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=rs118203886" 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=rs118203886" 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=RCV000010187" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010187" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010187</a>
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<p>In a patient with MERRF syndrome (<a href="/entry/545000">545000</a>), <a href="#5" class="mim-tip-reference" title="Mancuso, M., Filosto, M., Mootha, V. K., Rocchi, A., Pistolesi, S., Murri, L., DiMauro, S., Siciliano, G. <strong>A novel mitochondrial tRNA-phe mutation causes MERRF syndrome.</strong> Neurology 62: 2119-2121, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15184630/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15184630</a>] [<a href="https://doi.org/10.1212/01.wnl.0000127608.48406.f1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15184630">Mancuso et al. (2004)</a> identified a heteroplasmic 611G-A transition in the MTTF gene, resulting in a gly34-to-ala (G34A) substitution. The mutation was abundant in muscle (91%), particularly in COX-negative fibers, but undetectable in the patient's blood, urinary sediment, skin fibroblasts, and buccal smear. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15184630" 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="#4" class="mim-tip-reference" title="Ling, J., Roy, H., Qin, D., Rubio, M. A. T., Alfonzo, J. D., Fredrick, K., Ibba, M. <strong>Pathogenic mechanism of a human mitochondrial tRNA-Phe mutation associated with myoclonic epilepsy with ragged red fibers syndrome.</strong> Proc. Nat. Acad. Sci. 104: 15299-15304, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17878308/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17878308</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17878308[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/10.1073/pnas.0704441104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17878308">Ling et al. (2007)</a> demonstrated that the G34A mutation affects the anticodon of the protein and therefore results in decreased aminoacylation activity in vitro by 100-fold, but does not affect global folding or recognition by elongation factor. Modification of the tRNA binding region of nuclear-encoded human mitochondrial PheRS (<a href="/entry/611592">611592</a>) was able to partially restore aminoacylation efficiency for the G34A mutation in vitro. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17878308" 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>.0003 MYOPATHY, MITOCHONDRIAL, 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">rs118203887 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs118203887;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=rs118203887" 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=rs118203887" 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=RCV000010188 OR RCV002247289" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010188, RCV002247289" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010188...</a>
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<p>In a 66-year-old woman with a 4-year history of walking difficulties due to exercise intolerance and paresthesias in the feet, <a href="#1" class="mim-tip-reference" title="Deschauer, M., Swalwell, H., Strauss, M., Zierz, S., Taylor, R. W. <strong>Novel mitochondrial transfer RNA-phe gene mutation associated with late-onset neuromuscular disease.</strong> Arch. Neurol. 63: 902-905, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16769874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16769874</a>] [<a href="https://doi.org/10.1001/archneur.63.6.902" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16769874">Deschauer et al. (2006)</a> identified a heteroplasmic 622G-A transition in the MTTF gene. The mutation occurs in a highly conserved nucleotide within the variable loop of the protein. The patient also had mild sensorineural hearing impairment with a loss of up to 60 dB at higher frequencies. Resting serum lactate levels were normal but increased significantly after gentle exercise. Skeletal muscle biopsy detected atrophic muscle fibers, and histochemical analysis showed over 35% COX-negative fibers. Enzyme assay showed decreased activity of several respiratory chain complexes. The 622G-A transition was detected in skeletal muscle (88%), hair (70%), urinary epithelia (66%), buccal epithelia (63%), and blood (36%). The patient's mother reportedly had walking difficulties later in life, and tissues from the patient's asymptomatic daughter showed low levels of the mutation (10 to 20%). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16769874" 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">rs387906420 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906420;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=rs387906420" 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=rs387906420" 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=RCV000010189 OR RCV000850644 OR RCV001804724 OR RCV002247290" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010189, RCV000850644, RCV001804724, RCV002247290" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010189...</a>
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<p>In a patient with severe epilepsy, <a href="#11" class="mim-tip-reference" title="Zsurka, G., Hampel, K. G., Nelson, I., Jardel, C., Mirandola, S. R., Sassen, R., Kornblum, C., Marcorelles, P., Lavoue, S., Lombes, A., Kunz, W. S. <strong>Severe epilepsy as the major symptom of new mutations in the mitochondrial tRNA(Phe) gene.</strong> Neurology 74: 507-512, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20142618/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20142618</a>] [<a href="https://doi.org/10.1212/WNL.0b013e3181cef7ab" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20142618">Zsurka et al. (2010)</a> identified a homoplasmic 616T-C transition in the MTTF gene in a highly conserved position in the anticodon stem. She had her first epileptic seizure at age 10 months, with a left-sided complex partial seizure followed by a transient paresis of the left arm. At age 2 years she had status epilepticus with bilateral myoclonus. She continued to have drug-resistant seizures, with myoclonus, complex partial seizures, and episodes of status epilepticus and epilepsia partialis continua. She also had chronic renal insufficiency and delayed psychomotor development. She died of heart failure after status epilepticus at the age of 17 years. There was no evidence of cerebellar ataxia, polyneuropathy, myopathy, or visual or hearing loss. A maternal cousin also had epileptic seizures starting in early childhood and died of kidney failure. Skeletal muscle biopsy of the proband did not show ragged red fibers, but did show a combined respiratory chain defect with reduced complex IV activity. Family members who were heteroplasmic for the mutation had no clinical symptoms. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20142618" 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">rs387906420 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906420;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=rs387906420" 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=rs387906420" 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=RCV000010190" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010190" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010190</a>
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<p>In a patient with severe epilepsy, <a href="#11" class="mim-tip-reference" title="Zsurka, G., Hampel, K. G., Nelson, I., Jardel, C., Mirandola, S. R., Sassen, R., Kornblum, C., Marcorelles, P., Lavoue, S., Lombes, A., Kunz, W. S. <strong>Severe epilepsy as the major symptom of new mutations in the mitochondrial tRNA(Phe) gene.</strong> Neurology 74: 507-512, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20142618/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20142618</a>] [<a href="https://doi.org/10.1212/WNL.0b013e3181cef7ab" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20142618">Zsurka et al. (2010)</a> identified a homoplasmic 616T-G transversion in the MTTF gene in a highly conserved position in the anticodon stem. The male proband presented at age 15 years with generalized tonic-clonic seizures rapidly followed by continuous partial seizures affecting the left hemiface and myoclonus. He had status epilepticus at age 17 years and died of infection in intensive care unit after 4 months in status epilepticus. The patient's mother and maternal aunt both presented with status epilepticus at age 15 years. Skeletal muscle biopsy of the proband did not show ragged red fibers, but did show a combined respiratory chain defect with reduced complex IV activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20142618" 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>.0006 ENCEPHALOPATHY, MITOCHONDRIAL</strong>
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MTTF, 586G-A
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387906734 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906734;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=rs387906734" 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=rs387906734" 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=RCV000022903 OR RCV000850632" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022903, RCV000850632" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022903...</a>
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<p>In a 57-year-old woman with a progressive neurodegenerative disorder, <a href="#9" class="mim-tip-reference" title="Young, T. M., Blakely, E. L., Swalwell, H., Carter, J. E., Kartsounis, L. D., O'Donovan, D. G., Turnbull, D. M., Taylor, R. W., de Silva, R. N. <strong>Mitochondrial transfer RNA(Phe) mutation associated with a progressive neurodegenerative disorder characterized by psychiatric disturbance, dementia, and akinesia-rigidity.</strong> Arch. Neurol. 67: 1399-1402, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21060018/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21060018</a>] [<a href="https://doi.org/10.1001/archneurol.2010.283" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21060018">Young et al. (2010)</a> identified a heteroplasmic 586G-A transition in the MTTF gene. The phenotype was characterized by frontotemporal dementia, auditory hallucinations, sensorineural deafness, and akinesia-rigidity. The mutation level was highest in patient muscle (85%), with lower levels in urinary epithelia (29%) and blood (3%). Muscle biopsy showed ragged red fibers and decreased COX-positive fibers. Extraction of DNA from her deceased mother's paraffin-embedded tissue showed that the mother was heteroplasmic for the mutation (13% in breast tissue). <a href="#9" class="mim-tip-reference" title="Young, T. M., Blakely, E. L., Swalwell, H., Carter, J. E., Kartsounis, L. D., O'Donovan, D. G., Turnbull, D. M., Taylor, R. W., de Silva, R. N. <strong>Mitochondrial transfer RNA(Phe) mutation associated with a progressive neurodegenerative disorder characterized by psychiatric disturbance, dementia, and akinesia-rigidity.</strong> Arch. Neurol. 67: 1399-1402, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21060018/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21060018</a>] [<a href="https://doi.org/10.1001/archneurol.2010.283" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21060018">Young et al. (2010)</a> emphasized that the mutation appeared to cause an extrapyramidal symptom in this patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21060018" 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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MTTF, 608A-G
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387906735 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906735;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=rs387906735" 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=rs387906735" 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=RCV000022904 OR RCV002247380" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000022904, RCV002247380" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000022904...</a>
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<p>In 2 sibs with infantile onset of progressive renal failure due to tubulointerstitial nephropathy, <a href="#8" class="mim-tip-reference" title="Tzen, C.-Y., Tsai, J.-D., Wu, T.-Y., Chen, B.-F., Chen, M.-L., Lin, S.-P., Chen, S.-C. <strong>Tubulointerstitial nephritis associated with a novel mitochondrial point mutation.</strong> Kidney Int. 59: 846-854, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11231339/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11231339</a>] [<a href="https://doi.org/10.1046/j.1523-1755.2001.059003846.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11231339">Tzen et al. (2001)</a> identified a homoplasmic 608A-G transition in a conserved nucleotide in the MTTF gene that affects the anticodon stem and loop of the tRNA, potentially altering the tertiary structure. The mutation was not found in 97 controls. Leukocyte mtDNA of the unaffected mother carried the same mutation. The disorder was multisystemic, but both patients were brought to medical attention for failure to thrive and chronic renal insufficiency. Additional features included delayed development, brain atrophy, ataxia, anemia, muscle weakness and atrophy, and lesions suggestive of stroke in deep brain regions. Renal ultrasound showed increased echogenicity, and biopsy showed tubulointerstitial nephropathy with sclerotic tufts and thickening of Bowman's capsule with evidence of fibrosis. Electron microscopy showed irregular mitochondria with crystalline inclusions and abnormal morphology, such as swollen intracristal spaces. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11231339" 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>REFERENCES</strong>
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Deschauer, M., Swalwell, H., Strauss, M., Zierz, S., Taylor, R. W.
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<strong>Novel mitochondrial transfer RNA-phe gene mutation associated with late-onset neuromuscular disease.</strong>
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Arch. Neurol. 63: 902-905, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16769874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16769874</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16769874" 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.63.6.902" target="_blank">Full Text</a>]
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Goto, Y., Nonaka, I., Horai, S.
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<strong>A mutation in the tRNA-leu (UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.</strong>
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Nature 348: 651-653, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2102678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2102678</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2102678" 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/10.1038/348651a0" target="_blank">Full Text</a>]
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Hanna, M. G., Nelson, I. P., Morgan-Hughes, J. A., Wood, N. W.
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<strong>MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity.</strong>
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J. Neurol. Neurosurg. Psychiat. 65: 512-517, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9771776/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9771776</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9771776" 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/10.1136/jnnp.65.4.512" target="_blank">Full Text</a>]
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Ling, J., Roy, H., Qin, D., Rubio, M. A. T., Alfonzo, J. D., Fredrick, K., Ibba, M.
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<strong>Pathogenic mechanism of a human mitochondrial tRNA-Phe mutation associated with myoclonic epilepsy with ragged red fibers syndrome.</strong>
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Proc. Nat. Acad. Sci. 104: 15299-15304, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17878308/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17878308</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17878308[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=17878308" 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/10.1073/pnas.0704441104" target="_blank">Full Text</a>]
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Mancuso, M., Filosto, M., Mootha, V. K., Rocchi, A., Pistolesi, S., Murri, L., DiMauro, S., Siciliano, G.
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<strong>A novel mitochondrial tRNA-phe mutation causes MERRF syndrome.</strong>
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Neurology 62: 2119-2121, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15184630/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15184630</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15184630" 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.0000127608.48406.f1" target="_blank">Full Text</a>]
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Pavlakis, S. G., Phillips, P. C., DiMauro, S., De Vivo, D. C., Rowland, L. P.
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<strong>Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome.</strong>
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Ann. Neurol. 16: 481-488, 1984.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6093682/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6093682</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6093682" 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/ana.410160409" target="_blank">Full Text</a>]
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Shapira, Y., Cederbaum, S. D., Cancilla, P. A., Nielsen, D., Lippe, B. M.
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<strong>Familial poliodystrophy, mitochondrial myopathy, and lactic acidemia.</strong>
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Neurology 25: 614-621, 1975.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1171391/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1171391</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1171391" 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/wnl.25.7.614" target="_blank">Full Text</a>]
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<a id="8" class="mim-anchor"></a>
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<a id="Tzen2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tzen, C.-Y., Tsai, J.-D., Wu, T.-Y., Chen, B.-F., Chen, M.-L., Lin, S.-P., Chen, S.-C.
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<strong>Tubulointerstitial nephritis associated with a novel mitochondrial point mutation.</strong>
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Kidney Int. 59: 846-854, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11231339/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11231339</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11231339" 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/10.1046/j.1523-1755.2001.059003846.x" target="_blank">Full Text</a>]
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<a id="9" class="mim-anchor"></a>
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<a id="Young2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Young, T. M., Blakely, E. L., Swalwell, H., Carter, J. E., Kartsounis, L. D., O'Donovan, D. G., Turnbull, D. M., Taylor, R. W., de Silva, R. N.
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<strong>Mitochondrial transfer RNA(Phe) mutation associated with a progressive neurodegenerative disorder characterized by psychiatric disturbance, dementia, and akinesia-rigidity.</strong>
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Arch. Neurol. 67: 1399-1402, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21060018/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21060018</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21060018" 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/archneurol.2010.283" target="_blank">Full Text</a>]
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Zaganelli2017" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zaganelli, S., Rebelo-Guiomar, P., Maundrell, K., Rozanska, A., Pierredon, S., Powell, C. A., Jourdain, A. A., Hulo, N., Lightowlers, R. N., Chrzanowska-Lightowlers, Z. M., Minczuk, M., Martinou, J.-C.
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<strong>The pseudouridine synthase RPUSD4 is an essential component of mitochondrial RNA granules.</strong>
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J. Biol. Chem. 292: 4519-4532, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28082677/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28082677</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28082677[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=28082677" 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/10.1074/jbc.M116.771105" target="_blank">Full Text</a>]
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<a id="11" class="mim-anchor"></a>
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<a id="Zsurka2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zsurka, G., Hampel, K. G., Nelson, I., Jardel, C., Mirandola, S. R., Sassen, R., Kornblum, C., Marcorelles, P., Lavoue, S., Lombes, A., Kunz, W. S.
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<strong>Severe epilepsy as the major symptom of new mutations in the mitochondrial tRNA(Phe) gene.</strong>
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Neurology 74: 507-512, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20142618/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20142618</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20142618" 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/WNL.0b013e3181cef7ab" target="_blank">Full Text</a>]
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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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Elizabeth S. Partan - updated : 05/22/2017
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 3/30/2011<br>Cassandra L. Kniffin - updated : 1/21/2011<br>Cassandra L. Kniffin - updated : 5/5/2010<br>Cassandra L. Kniffin - updated : 10/16/2007<br>Cassandra L. Kniffin - updated : 2/13/2007<br>Cassandra L. Kniffin - updated : 1/31/2005<br>Victor A. McKusick - updated : 2/15/1999
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<a id="creationDate" class="mim-anchor"></a>
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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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<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 : 3/2/1993
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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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mgross : 05/22/2017
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wwang : 04/12/2011<br>ckniffin : 3/30/2011<br>wwang : 2/16/2011<br>ckniffin : 1/21/2011<br>wwang : 5/10/2010<br>ckniffin : 5/5/2010<br>wwang : 11/19/2007<br>ckniffin : 10/16/2007<br>wwang : 2/19/2007<br>ckniffin : 2/13/2007<br>ckniffin : 1/31/2005<br>mgross : 3/10/1999<br>carol : 2/16/1999<br>terry : 2/15/1999<br>terry : 2/15/1999<br>carol : 5/26/1993<br>carol : 5/17/1993<br>carol : 3/2/1993
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<span class="mim-font">
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<strong>*</strong> 590070
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<div>
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<h3>
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TRANSFER RNA, MITOCHONDRIAL, PHENYLALANINE; MTTF
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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tRNA-PHE, MITOCHONDRIAL
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: MT-TF</em></strong>
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<strong>SNOMEDCT:</strong> 230426003, 39925003, 428255004;
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<strong>ICD10CM:</strong> E88.41, E88.42, N10-N16, N15.9, N16;
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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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<span class="mim-text-font">
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<p>The mitochondrial tRNA for phenylalanine is encoded by nucleotides 577-647.</p>
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<div>
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<br />
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<h4>
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<strong>Gene Function</strong>
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<span class="mim-text-font">
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<p>Zaganelli et al. (2017) found that RPUSD4 (617488) coprecipitated with mitochondrial tRNA(phe) and mitochondrial tRNA(met) (MTTM; 590065) and bound specifically to the pseudouridine at universal tRNA sites 39 and 50. Depletion of RPUSD4 significantly reduced pseudouridine-39 in mitochondrial tRNA(phe), but not in mitochondrial tRNA(gly) (MTTG; 590035). The pseudouridines in mitochondrial tRNA(met) were unaffected by RPUSD4 depletion. RPUSD4 depletion had no effect on mitochondrial tRNA(phe) steady-state levels or aminoacylation. Zaganelli et al. (2017) concluded that RPUSD4 is responsible for formation of pseudouridine-39 in mitochondrial tRNA(phe). </p>
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<br />
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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 class="mim-text-font">
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<p>In patients with MELAS syndrome (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) (540000), Hanna et al. (1998) and Mancuso et al. (2004) identified mutations in the MTTF gene (590070.0001 and 590070.0002, respectively). </p><p>By in vitro studies, Ling et al. (2007) found that different pathogenic mutations in the MTTF gene resulted in aminoacylation defects, primarily by affecting the secondary or tertiary structure of the protein. The exception was the G34A mutation (590070.0002), which was not involved in global structure but resulted in decreased aminoacylation because it affected the tRNA anticodon. </p>
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>7 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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<h4>
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<span class="mim-font">
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<strong>.0001 MELAS SYNDROME</strong>
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</span>
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</h4>
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MTTF, 583G-A
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<br />
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SNP: rs118203885,
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ClinVar: RCV000010186, RCV003153296
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<span class="mim-text-font">
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<p>Shapira et al. (1975) provided the first description of a disorder that includes stroke-like episodes, lactic acidemia, and ragged-red fibers. Pavlakis et al. (1984) described further cases, introduced the acronym MELAS (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) (540000), and suggested that this represents a distinct mitochondrial disorder. Goto et al. (1990) identified a point mutation in the gene encoding mtRNA leucine (UUR) (MTTL1; 590050.0001) in some patients with MELAS. Hanna et al. (1998) analyzed the sequence of mitochondrial DNA in 5 patients with the MELAS phenotype. In one of the patients, a novel heteroplasmic mitochondrial DNA mutation was identified in the tRNA gene for phenylalanine in skeletal muscle. This mutation was not detected in the patient's blood or in her mother's blood. No pathogenic mutations were identified in the other patients. The mutation was a G-to-A transition at position 583 in the aminoacyl acceptor stem region of the MTTF gene. The proportion of the 583G-A mutation in the patient's muscle was 58%. Evolutionary comparisons showed that the 583G-A nucleotide is highly conserved. The patient was a 32-year-old woman who developed normally until the age of 12 years when she had an acute episode of headache, photophobia, vomiting, and left arm focal motor fitting from which she fully recovered. She experienced 2 further similar episodes and after the second developed a dense left hemiplegia which subsequently resolved. There followed progressive cognitive decline, cerebellar ataxia, and complex partial seizures. At the age of 29 years, a salt and pepper type retinopathy, cerebellar ataxia, mild spasticity in all 4 limbs, and intermittent dystonic posturing of her upper limbs as she walked were found. There was no limb weakness. Brain CT showed extensive low density areas involving both gray and white matter, most marked posteriorly. These were consistent with areas of infarction. Plasma lactate was raised. Muscle biopsy at age 12 years showed 3% ragged-red fibers. </p>
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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>.0002 MERRF SYNDROME</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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MTTF, 611G-A
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<br />
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SNP: rs118203886,
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ClinVar: RCV000010187
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</span>
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<div>
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<span class="mim-text-font">
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<p>In a patient with MERRF syndrome (545000), Mancuso et al. (2004) identified a heteroplasmic 611G-A transition in the MTTF gene, resulting in a gly34-to-ala (G34A) substitution. The mutation was abundant in muscle (91%), particularly in COX-negative fibers, but undetectable in the patient's blood, urinary sediment, skin fibroblasts, and buccal smear. </p><p>Ling et al. (2007) demonstrated that the G34A mutation affects the anticodon of the protein and therefore results in decreased aminoacylation activity in vitro by 100-fold, but does not affect global folding or recognition by elongation factor. Modification of the tRNA binding region of nuclear-encoded human mitochondrial PheRS (611592) was able to partially restore aminoacylation efficiency for the G34A mutation in vitro. </p>
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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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<h4>
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<span class="mim-font">
|
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<strong>.0003 MYOPATHY, MITOCHONDRIAL, LATE-ONSET</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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MTTF, 622G-A
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<br />
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SNP: rs118203887,
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ClinVar: RCV000010188, RCV002247289
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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 66-year-old woman with a 4-year history of walking difficulties due to exercise intolerance and paresthesias in the feet, Deschauer et al. (2006) identified a heteroplasmic 622G-A transition in the MTTF gene. The mutation occurs in a highly conserved nucleotide within the variable loop of the protein. The patient also had mild sensorineural hearing impairment with a loss of up to 60 dB at higher frequencies. Resting serum lactate levels were normal but increased significantly after gentle exercise. Skeletal muscle biopsy detected atrophic muscle fibers, and histochemical analysis showed over 35% COX-negative fibers. Enzyme assay showed decreased activity of several respiratory chain complexes. The 622G-A transition was detected in skeletal muscle (88%), hair (70%), urinary epithelia (66%), buccal epithelia (63%), and blood (36%). The patient's mother reportedly had walking difficulties later in life, and tissues from the patient's asymptomatic daughter showed low levels of the mutation (10 to 20%). </p>
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<span class="mim-font">
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<strong>.0004 EPILEPSY, MITOCHONDRIAL</strong>
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</h4>
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<span class="mim-text-font">
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MTTF, 616T-C
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<br />
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SNP: rs387906420,
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ClinVar: RCV000010189, RCV000850644, RCV001804724, RCV002247290
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<p>In a patient with severe epilepsy, Zsurka et al. (2010) identified a homoplasmic 616T-C transition in the MTTF gene in a highly conserved position in the anticodon stem. She had her first epileptic seizure at age 10 months, with a left-sided complex partial seizure followed by a transient paresis of the left arm. At age 2 years she had status epilepticus with bilateral myoclonus. She continued to have drug-resistant seizures, with myoclonus, complex partial seizures, and episodes of status epilepticus and epilepsia partialis continua. She also had chronic renal insufficiency and delayed psychomotor development. She died of heart failure after status epilepticus at the age of 17 years. There was no evidence of cerebellar ataxia, polyneuropathy, myopathy, or visual or hearing loss. A maternal cousin also had epileptic seizures starting in early childhood and died of kidney failure. Skeletal muscle biopsy of the proband did not show ragged red fibers, but did show a combined respiratory chain defect with reduced complex IV activity. Family members who were heteroplasmic for the mutation had no clinical symptoms. </p>
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<span class="mim-font">
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<strong>.0005 EPILEPSY, MITOCHONDRIAL</strong>
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MTTF, 616T-G
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<br />
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SNP: rs387906420,
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ClinVar: RCV000010190
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<span class="mim-text-font">
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<p>In a patient with severe epilepsy, Zsurka et al. (2010) identified a homoplasmic 616T-G transversion in the MTTF gene in a highly conserved position in the anticodon stem. The male proband presented at age 15 years with generalized tonic-clonic seizures rapidly followed by continuous partial seizures affecting the left hemiface and myoclonus. He had status epilepticus at age 17 years and died of infection in intensive care unit after 4 months in status epilepticus. The patient's mother and maternal aunt both presented with status epilepticus at age 15 years. Skeletal muscle biopsy of the proband did not show ragged red fibers, but did show a combined respiratory chain defect with reduced complex IV activity. </p>
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<span class="mim-font">
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<strong>.0006 ENCEPHALOPATHY, MITOCHONDRIAL</strong>
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</span>
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MTTF, 586G-A
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<br />
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SNP: rs387906734,
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ClinVar: RCV000022903, RCV000850632
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<span class="mim-text-font">
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<p>In a 57-year-old woman with a progressive neurodegenerative disorder, Young et al. (2010) identified a heteroplasmic 586G-A transition in the MTTF gene. The phenotype was characterized by frontotemporal dementia, auditory hallucinations, sensorineural deafness, and akinesia-rigidity. The mutation level was highest in patient muscle (85%), with lower levels in urinary epithelia (29%) and blood (3%). Muscle biopsy showed ragged red fibers and decreased COX-positive fibers. Extraction of DNA from her deceased mother's paraffin-embedded tissue showed that the mother was heteroplasmic for the mutation (13% in breast tissue). Young et al. (2010) emphasized that the mutation appeared to cause an extrapyramidal symptom in this patient. </p>
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<span class="mim-font">
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<strong>.0007 NEPHROPATHY, TUBULOINTERSTITIAL</strong>
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<span class="mim-text-font">
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MTTF, 608A-G
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<br />
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SNP: rs387906735,
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ClinVar: RCV000022904, RCV002247380
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<span class="mim-text-font">
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<p>In 2 sibs with infantile onset of progressive renal failure due to tubulointerstitial nephropathy, Tzen et al. (2001) identified a homoplasmic 608A-G transition in a conserved nucleotide in the MTTF gene that affects the anticodon stem and loop of the tRNA, potentially altering the tertiary structure. The mutation was not found in 97 controls. Leukocyte mtDNA of the unaffected mother carried the same mutation. The disorder was multisystemic, but both patients were brought to medical attention for failure to thrive and chronic renal insufficiency. Additional features included delayed development, brain atrophy, ataxia, anemia, muscle weakness and atrophy, and lesions suggestive of stroke in deep brain regions. Renal ultrasound showed increased echogenicity, and biopsy showed tubulointerstitial nephropathy with sclerotic tufts and thickening of Bowman's capsule with evidence of fibrosis. Electron microscopy showed irregular mitochondria with crystalline inclusions and abnormal morphology, such as swollen intracristal spaces. </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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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Deschauer, M., Swalwell, H., Strauss, M., Zierz, S., Taylor, R. W.
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<strong>Novel mitochondrial transfer RNA-phe gene mutation associated with late-onset neuromuscular disease.</strong>
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Arch. Neurol. 63: 902-905, 2006.
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[PubMed: 16769874]
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[Full Text: https://doi.org/10.1001/archneur.63.6.902]
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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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Goto, Y., Nonaka, I., Horai, S.
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<strong>A mutation in the tRNA-leu (UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.</strong>
|
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Nature 348: 651-653, 1990.
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[PubMed: 2102678]
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[Full Text: https://doi.org/10.1038/348651a0]
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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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Hanna, M. G., Nelson, I. P., Morgan-Hughes, J. A., Wood, N. W.
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<strong>MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity.</strong>
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J. Neurol. Neurosurg. Psychiat. 65: 512-517, 1998.
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[PubMed: 9771776]
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[Full Text: https://doi.org/10.1136/jnnp.65.4.512]
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</p>
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<li>
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<p class="mim-text-font">
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Ling, J., Roy, H., Qin, D., Rubio, M. A. T., Alfonzo, J. D., Fredrick, K., Ibba, M.
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<strong>Pathogenic mechanism of a human mitochondrial tRNA-Phe mutation associated with myoclonic epilepsy with ragged red fibers syndrome.</strong>
|
|
Proc. Nat. Acad. Sci. 104: 15299-15304, 2007.
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[PubMed: 17878308]
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[Full Text: https://doi.org/10.1073/pnas.0704441104]
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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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Mancuso, M., Filosto, M., Mootha, V. K., Rocchi, A., Pistolesi, S., Murri, L., DiMauro, S., Siciliano, G.
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<strong>A novel mitochondrial tRNA-phe mutation causes MERRF syndrome.</strong>
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Neurology 62: 2119-2121, 2004.
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[PubMed: 15184630]
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[Full Text: https://doi.org/10.1212/01.wnl.0000127608.48406.f1]
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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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Pavlakis, S. G., Phillips, P. C., DiMauro, S., De Vivo, D. C., Rowland, L. P.
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<strong>Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome.</strong>
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Ann. Neurol. 16: 481-488, 1984.
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[PubMed: 6093682]
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[Full Text: https://doi.org/10.1002/ana.410160409]
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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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Shapira, Y., Cederbaum, S. D., Cancilla, P. A., Nielsen, D., Lippe, B. M.
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<strong>Familial poliodystrophy, mitochondrial myopathy, and lactic acidemia.</strong>
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Neurology 25: 614-621, 1975.
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[PubMed: 1171391]
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[Full Text: https://doi.org/10.1212/wnl.25.7.614]
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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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Tzen, C.-Y., Tsai, J.-D., Wu, T.-Y., Chen, B.-F., Chen, M.-L., Lin, S.-P., Chen, S.-C.
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<strong>Tubulointerstitial nephritis associated with a novel mitochondrial point mutation.</strong>
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Kidney Int. 59: 846-854, 2001.
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[PubMed: 11231339]
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[Full Text: https://doi.org/10.1046/j.1523-1755.2001.059003846.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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Young, T. M., Blakely, E. L., Swalwell, H., Carter, J. E., Kartsounis, L. D., O'Donovan, D. G., Turnbull, D. M., Taylor, R. W., de Silva, R. N.
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<strong>Mitochondrial transfer RNA(Phe) mutation associated with a progressive neurodegenerative disorder characterized by psychiatric disturbance, dementia, and akinesia-rigidity.</strong>
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Arch. Neurol. 67: 1399-1402, 2010.
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[PubMed: 21060018]
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[Full Text: https://doi.org/10.1001/archneurol.2010.283]
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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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Zaganelli, S., Rebelo-Guiomar, P., Maundrell, K., Rozanska, A., Pierredon, S., Powell, C. A., Jourdain, A. A., Hulo, N., Lightowlers, R. N., Chrzanowska-Lightowlers, Z. M., Minczuk, M., Martinou, J.-C.
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<strong>The pseudouridine synthase RPUSD4 is an essential component of mitochondrial RNA granules.</strong>
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J. Biol. Chem. 292: 4519-4532, 2017.
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[PubMed: 28082677]
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[Full Text: https://doi.org/10.1074/jbc.M116.771105]
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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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Zsurka, G., Hampel, K. G., Nelson, I., Jardel, C., Mirandola, S. R., Sassen, R., Kornblum, C., Marcorelles, P., Lavoue, S., Lombes, A., Kunz, W. S.
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<strong>Severe epilepsy as the major symptom of new mutations in the mitochondrial tRNA(Phe) gene.</strong>
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Neurology 74: 507-512, 2010.
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[PubMed: 20142618]
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[Full Text: https://doi.org/10.1212/WNL.0b013e3181cef7ab]
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</p>
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</li>
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</ol>
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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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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Elizabeth S. Partan - updated : 05/22/2017<br>Cassandra L. Kniffin - updated : 3/30/2011<br>Cassandra L. Kniffin - updated : 1/21/2011<br>Cassandra L. Kniffin - updated : 5/5/2010<br>Cassandra L. Kniffin - updated : 10/16/2007<br>Cassandra L. Kniffin - updated : 2/13/2007<br>Cassandra L. Kniffin - updated : 1/31/2005<br>Victor A. McKusick - updated : 2/15/1999
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<span class="text-nowrap mim-text-font">
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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 : 3/2/1993
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Edit History:
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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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mgross : 05/22/2017<br>wwang : 04/12/2011<br>ckniffin : 3/30/2011<br>wwang : 2/16/2011<br>ckniffin : 1/21/2011<br>wwang : 5/10/2010<br>ckniffin : 5/5/2010<br>wwang : 11/19/2007<br>ckniffin : 10/16/2007<br>wwang : 2/19/2007<br>ckniffin : 2/13/2007<br>ckniffin : 1/31/2005<br>mgross : 3/10/1999<br>carol : 2/16/1999<br>terry : 2/15/1999<br>terry : 2/15/1999<br>carol : 5/26/1993<br>carol : 5/17/1993<br>carol : 3/2/1993
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Thank you in advance for your generous support, <br />
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