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Entry
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- *590055 - TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 2; MTTL2
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- OMIM
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<p>
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<span class="h4">*590055</span>
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<br />
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<strong>Table of Contents</strong>
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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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<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/590055">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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<div style="display: table-cell;">External Links</div>
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</a>
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000210191;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-TL2" class="mim-tip-hint" title="A curated repository of published and unpublished data on human mitochondrial DNA variation."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=4568" 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=590055" 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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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000210191;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=590055" 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 id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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<div><a href="https://www.proteinatlas.org/search/MT-TL2" 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 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><a href="http://biogps.org/#goto=genereport&id=4568" 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=ENSG00000210191;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-TL2" 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-TL2" 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+4568" 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-TL2" 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:4568" 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/4568" 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 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="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 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:7491" 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=590055[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=590055[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/ENSG00000210191" 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-TL2" 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-TL2" 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-TL2&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/PA31294" 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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</a>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:7491" 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:102481" 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-TL2#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:102481" 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/4568/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=4568" 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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div style="display: table-cell;">Cellular Pathways</div>
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</a>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:4568" 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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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 16851005, 447292006, 472315005<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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590055
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</span>
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</span>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 2; MTTL2
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</span>
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</h3>
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<br />
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<a id="alternativeTitles" class="mim-anchor"></a>
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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-LEU, MITOCHONDRIAL, 2
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=MT-TL2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">MT-TL2</a></em></strong>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>The mitochondrial tRNA for leucine (CUN) is encoded by nucleotides 12266-12336.</p>
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</span>
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<div>
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<br />
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</div>
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<a id="allelicVariants" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span href="#mimAllelicVariantsFold" id="mimAllelicVariantsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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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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</span>
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<strong>3 Selected Examples</a>):</strong>
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</span>
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<a href="/allelicVariants/590055" class="btn btn-default" role="button"> Table View </a>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=590055[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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<p />
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<a id="0001" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0001 ENCEPHALOMYOPATHY, MITOCHONDRIAL</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<div style="float: left;">
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MTTL2, 12315G-A
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121434462 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121434462;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=rs121434462" 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=rs121434462" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000010203 OR RCV000851084 OR RCV003153297" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010203, RCV000851084, RCV003153297" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010203...</a>
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<span class="mim-text-font">
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<p><a href="#1" class="mim-tip-reference" title="Fu, K., Hartlen, R., Johns, T., Genge, A., Karpati, G., Shoubridge, E. A. <strong>A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy.</strong> Hum. Molec. Genet. 5: 1835-1840, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8923013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8923013</a>] [<a href="https://doi.org/10.1093/hmg/5.11.1835" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8923013">Fu et al. (1996)</a> reported a patient with ragged-red muscle fibers and a constellation of clinical features including chronic progressive external ophthalmoplegia (CPEO), ptosis, pigmentary retinopathy, and sensorineural hearing loss in whom they detected a novel point mutation in the tRNAleu(CUN) gene. <a href="#1" class="mim-tip-reference" title="Fu, K., Hartlen, R., Johns, T., Genge, A., Karpati, G., Shoubridge, E. A. <strong>A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy.</strong> Hum. Molec. Genet. 5: 1835-1840, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8923013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8923013</a>] [<a href="https://doi.org/10.1093/hmg/5.11.1835" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8923013">Fu et al. (1996)</a> identified a heteroplasmic G-to-A substitution at position 12315 by direct DNA sequencing. They noted that this mutation disrupted basepairing in the T-psi-C stem of tRNAleu(CUN). Quantitative analysis showed that the mtDNAs carrying the mutation constituted 94% of total mtDNA in 2 independent muscle biopsies. <a href="#1" class="mim-tip-reference" title="Fu, K., Hartlen, R., Johns, T., Genge, A., Karpati, G., Shoubridge, E. A. <strong>A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy.</strong> Hum. Molec. Genet. 5: 1835-1840, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8923013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8923013</a>] [<a href="https://doi.org/10.1093/hmg/5.11.1835" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8923013">Fu et al. (1996)</a> reported that the mutation was not detected in blood samples from the patient or in cultures of fibroblasts. This mutation was not found in samples from 63 independent controls. They established primary myoblast (satellite cell) cultures from the patient and these cultures proved to be homoplasmic wildtype. <a href="#1" class="mim-tip-reference" title="Fu, K., Hartlen, R., Johns, T., Genge, A., Karpati, G., Shoubridge, E. A. <strong>A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy.</strong> Hum. Molec. Genet. 5: 1835-1840, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8923013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8923013</a>] [<a href="https://doi.org/10.1093/hmg/5.11.1835" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8923013">Fu et al. (1996)</a> suggested that mtDNA carrying the tRNAleu(CUN) mutation at position 12315 accumulated in postmitotic muscle cells but was lost primarily by genetic drift in mitotic cells. They suggested that these results raise the possibility of elimination of the mutant mtDNA genotype from skeletal muscle and restoration of a normal muscle phenotype by regeneration of mature muscle fibers from satellite cells. <a href="#1" class="mim-tip-reference" title="Fu, K., Hartlen, R., Johns, T., Genge, A., Karpati, G., Shoubridge, E. A. <strong>A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy.</strong> Hum. Molec. Genet. 5: 1835-1840, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8923013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8923013</a>] [<a href="https://doi.org/10.1093/hmg/5.11.1835" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8923013">Fu et al. (1996)</a> noted that the ragged-red fiber appearance is due to the proliferation of mitochondria in muscle fibers and that this may reflect an attempt by the cell to compensate for an imbalance between oxidative ATP supply and demand. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8923013" 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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<br />
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<a id="0002" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0002 MYOPATHY, MITOCHONDRIAL</strong>
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<span class="mim-text-font">
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MTTL2, 12320A-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">rs121434463 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121434463;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=rs121434463" 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=rs121434463" 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=RCV000010204 OR RCV004791200" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010204, RCV004791200" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010204...</a>
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<p>In a patient manifesting an isolated skeletal myopathy, <a href="#4" class="mim-tip-reference" title="Weber, K., Wilson, J. N., Taylor, L., Brierley, E., Johnson, M. A., Turnbull, D. M., Bindoff, L. A. <strong>A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle.</strong> Am. J. Hum. Genet. 60: 373-380, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9012410/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9012410</a>]" pmid="9012410">Weber et al. (1997)</a> identified a heteroplasmic A-to-G transition at position 12320 in the MTTL2 gene. The mutation affected the T-psi-C loop at a conserved site and was not found in 120 controls. Analysis of cultured fibroblasts, white blood cells/platelets, and skeletal muscle showed only that skeletal muscle contained the mutation and that only this tissue demonstrated a biochemical defect of respiratory chain activity. In a series of 4 muscle biopsy specimens taken over a 12-year period, there was a gradual increase, from 70 to 90%, in the overall level of the mutation, as well as a marked clinical deterioration. Single-fiber PCR confirmed that the proportion of mutant mtDNA was highest in cytochrome c oxidase-negative fibers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9012410" 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 CARDIOMYOPATHY, MITOCHONDRIAL</strong>
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MTTL2, 12297T-C
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121434464 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121434464;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=rs121434464" 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=rs121434464" 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=RCV000010205 OR RCV000844938 OR RCV000851078" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010205, RCV000844938, RCV000851078" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010205...</a>
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<p>In a 36-year-old Italian patient with congestive heart failure, <a href="#2" class="mim-tip-reference" title="Grasso, M., Diegoli, M., Brega, A., Campana, C., Tavazzi, L., Arbustini, E. <strong>The mitochondrial DNA mutation T12297C affects a highly conserved nucleotide of tRNA-leu(CUN) and is associated with dilated cardiomyopathy.</strong> Europ. J. Hum. Genet. 9: 311-315, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11313776/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11313776</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200622" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11313776">Grasso et al. (2001)</a> identified a heteroplasmic 12297T-C mutation in the MTTL2 gene. An endomyocardial biopsy showed wide variation in size and shape of the mitochondria, with several composed of peripheral rings of mitochondrial membranes and devoid of internal cristae. The 12297T-C mutation, which affected a highly conserved nucleotide, was heteroplasmic with a higher amount of mutant DNA in the myocardium (88%) than in blood (70%) and was absent in 150 patients with dilated cardiomyopathy and 120 normal controls. The same mutation had previously been identified in an unrelated Italian family with dilated cardiomyopathy associated with endocardial fibroelastosis (<a href="#3" class="mim-tip-reference" title="Tessa, A., Vilarinho, L., Casali, C., Santorelli, F. M. <strong>MtDNA-related idiopathic dilated cardiomyopathy.</strong> Europ. J. Hum. Genet. 7: 847-848, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10602359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10602359</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200380" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10602359">Tessa et al., 1999</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10602359+11313776" 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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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
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<a id="Fu1996" class="mim-anchor"></a>
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Fu, K., Hartlen, R., Johns, T., Genge, A., Karpati, G., Shoubridge, E. A.
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<strong>A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy.</strong>
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Hum. Molec. Genet. 5: 1835-1840, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8923013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8923013</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8923013" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/5.11.1835" target="_blank">Full Text</a>]
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<a id="Grasso2001" class="mim-anchor"></a>
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<p class="mim-text-font">
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Grasso, M., Diegoli, M., Brega, A., Campana, C., Tavazzi, L., Arbustini, E.
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<strong>The mitochondrial DNA mutation T12297C affects a highly conserved nucleotide of tRNA-leu(CUN) and is associated with dilated cardiomyopathy.</strong>
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Europ. J. Hum. Genet. 9: 311-315, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11313776/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11313776</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11313776" 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/sj.ejhg.5200622" target="_blank">Full Text</a>]
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<a id="Tessa1999" class="mim-anchor"></a>
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<p class="mim-text-font">
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Tessa, A., Vilarinho, L., Casali, C., Santorelli, F. M.
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<strong>MtDNA-related idiopathic dilated cardiomyopathy.</strong>
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Europ. J. Hum. Genet. 7: 847-848, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10602359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10602359</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10602359" 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/sj.ejhg.5200380" target="_blank">Full Text</a>]
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Weber, K., Wilson, J. N., Taylor, L., Brierley, E., Johnson, M. A., Turnbull, D. M., Bindoff, L. A.
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<strong>A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle.</strong>
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Am. J. Hum. Genet. 60: 373-380, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9012410/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9012410</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9012410" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Michael B. Petersen - updated : 09/14/2001
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Victor A. McKusick - updated : 2/13/1997<br>Moyra Smith - updated : 1/31/1997
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Victor A. McKusick : 3/2/1993
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carol : 09/14/2001
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terry : 8/25/1998<br>terry : 7/7/1998<br>terry : 2/13/1997<br>terry : 2/10/1997<br>terry : 1/31/1997<br>mark : 1/30/1997<br>carol : 5/26/1993<br>carol : 5/17/1993<br>carol : 3/2/1993
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TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 2; MTTL2
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tRNA-LEU, MITOCHONDRIAL, 2
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<span class="mim-text-font">
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MTTL2, 12315G-A
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<br />
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SNP: rs121434462,
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ClinVar: RCV000010203, RCV000851084, RCV003153297
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</span>
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</div>
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<span class="mim-text-font">
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<p>Fu et al. (1996) reported a patient with ragged-red muscle fibers and a constellation of clinical features including chronic progressive external ophthalmoplegia (CPEO), ptosis, pigmentary retinopathy, and sensorineural hearing loss in whom they detected a novel point mutation in the tRNAleu(CUN) gene. Fu et al. (1996) identified a heteroplasmic G-to-A substitution at position 12315 by direct DNA sequencing. They noted that this mutation disrupted basepairing in the T-psi-C stem of tRNAleu(CUN). Quantitative analysis showed that the mtDNAs carrying the mutation constituted 94% of total mtDNA in 2 independent muscle biopsies. Fu et al. (1996) reported that the mutation was not detected in blood samples from the patient or in cultures of fibroblasts. This mutation was not found in samples from 63 independent controls. They established primary myoblast (satellite cell) cultures from the patient and these cultures proved to be homoplasmic wildtype. Fu et al. (1996) suggested that mtDNA carrying the tRNAleu(CUN) mutation at position 12315 accumulated in postmitotic muscle cells but was lost primarily by genetic drift in mitotic cells. They suggested that these results raise the possibility of elimination of the mutant mtDNA genotype from skeletal muscle and restoration of a normal muscle phenotype by regeneration of mature muscle fibers from satellite cells. Fu et al. (1996) noted that the ragged-red fiber appearance is due to the proliferation of mitochondria in muscle fibers and that this may reflect an attempt by the cell to compensate for an imbalance between oxidative ATP supply and demand. </p>
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</span>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 MYOPATHY, MITOCHONDRIAL</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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MTTL2, 12320A-G
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<br />
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SNP: rs121434463,
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ClinVar: RCV000010204, RCV004791200
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient manifesting an isolated skeletal myopathy, Weber et al. (1997) identified a heteroplasmic A-to-G transition at position 12320 in the MTTL2 gene. The mutation affected the T-psi-C loop at a conserved site and was not found in 120 controls. Analysis of cultured fibroblasts, white blood cells/platelets, and skeletal muscle showed only that skeletal muscle contained the mutation and that only this tissue demonstrated a biochemical defect of respiratory chain activity. In a series of 4 muscle biopsy specimens taken over a 12-year period, there was a gradual increase, from 70 to 90%, in the overall level of the mutation, as well as a marked clinical deterioration. Single-fiber PCR confirmed that the proportion of mutant mtDNA was highest in cytochrome c oxidase-negative fibers. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 CARDIOMYOPATHY, MITOCHONDRIAL</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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MTTL2, 12297T-C
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<br />
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SNP: rs121434464,
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ClinVar: RCV000010205, RCV000844938, RCV000851078
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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 36-year-old Italian patient with congestive heart failure, Grasso et al. (2001) identified a heteroplasmic 12297T-C mutation in the MTTL2 gene. An endomyocardial biopsy showed wide variation in size and shape of the mitochondria, with several composed of peripheral rings of mitochondrial membranes and devoid of internal cristae. The 12297T-C mutation, which affected a highly conserved nucleotide, was heteroplasmic with a higher amount of mutant DNA in the myocardium (88%) than in blood (70%) and was absent in 150 patients with dilated cardiomyopathy and 120 normal controls. The same mutation had previously been identified in an unrelated Italian family with dilated cardiomyopathy associated with endocardial fibroelastosis (Tessa et al., 1999). </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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</div>
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<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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Fu, K., Hartlen, R., Johns, T., Genge, A., Karpati, G., Shoubridge, E. A.
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<strong>A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy.</strong>
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Hum. Molec. Genet. 5: 1835-1840, 1996.
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[PubMed: 8923013]
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[Full Text: https://doi.org/10.1093/hmg/5.11.1835]
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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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Grasso, M., Diegoli, M., Brega, A., Campana, C., Tavazzi, L., Arbustini, E.
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<strong>The mitochondrial DNA mutation T12297C affects a highly conserved nucleotide of tRNA-leu(CUN) and is associated with dilated cardiomyopathy.</strong>
|
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Europ. J. Hum. Genet. 9: 311-315, 2001.
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[PubMed: 11313776]
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[Full Text: https://doi.org/10.1038/sj.ejhg.5200622]
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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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Tessa, A., Vilarinho, L., Casali, C., Santorelli, F. M.
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<strong>MtDNA-related idiopathic dilated cardiomyopathy.</strong>
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Europ. J. Hum. Genet. 7: 847-848, 1999.
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[PubMed: 10602359]
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[Full Text: https://doi.org/10.1038/sj.ejhg.5200380]
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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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Weber, K., Wilson, J. N., Taylor, L., Brierley, E., Johnson, M. A., Turnbull, D. M., Bindoff, L. A.
|
|
<strong>A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle.</strong>
|
|
Am. J. Hum. Genet. 60: 373-380, 1997.
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[PubMed: 9012410]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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<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>
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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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Michael B. Petersen - updated : 09/14/2001<br>Victor A. McKusick - updated : 2/13/1997<br>Moyra Smith - updated : 1/31/1997
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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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<br />
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</div>
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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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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 3/2/1993
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</span>
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</div>
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Edit History:
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carol : 09/14/2001<br>terry : 8/25/1998<br>terry : 7/7/1998<br>terry : 2/13/1997<br>terry : 2/10/1997<br>terry : 1/31/1997<br>mark : 1/30/1997<br>carol : 5/26/1993<br>carol : 5/17/1993<br>carol : 3/2/1993
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