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Entry
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- *612395 - CHOLINE KINASE, BETA; CHKB
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*612395</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="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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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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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/612395">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000100288;t=ENST00000406938" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=1120" 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=612395" 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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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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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=ENSG00000100288;t=ENST00000406938" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_005198" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_005198" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=612395" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=07631&isoform_id=07631_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/CHKB" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/protein/4432588,5420185,5420187,5509940,5509942,6685604,6862559,6978649,47678369,51895977,119593979,119593980,119593981,127802021,133777770,189067262" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
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<div><a href="https://www.uniprot.org/uniprotkb/Q9Y259" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=1120" 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=ENSG00000100288;t=ENST00000406938" 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=CHKB" 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=CHKB" 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+1120" 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/CHKB" 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:1120" 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/1120" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr22&hgg_gene=ENST00000406938.3&hgg_start=50578963&hgg_end=50582849&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1938" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=612395[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=612395[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/ENSG00000100288" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=CHKB" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=CHKB" 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=CHKB" 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=CHKB&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/PA26469" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:1938" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0032955.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1328313" 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/CHKB#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:1328313" 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/1120/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=1120" 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="mim#WormbaseGeneFold" id="mimWormbaseGeneToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes."><span id="mimWormbaseGeneToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Wormbase Gene</div>
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<div id="mimWormbaseGeneFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00000509;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00000509 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00000510;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00000510 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00000511;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00000511 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00000512;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00000512 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00000513;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00000513 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00000514;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00000514 </a></div>
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</div>
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<div><a href="https://zfin.org/ZDB-GENE-030131-2928" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1120" 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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<div><a href="https://reactome.org/content/query?q=CHKB&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 1230273004<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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612395
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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CHOLINE KINASE, BETA; CHKB
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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CKB<br />
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CHOLINE KINASE-LIKE PROTEIN; CHKL<br />
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CHOLINE/ETHANOLAMINE KINASE, BETA; CKEKB<br />
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ETHANOLAMINE KINASE, BETA; EKB
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=CHKB" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">CHKB</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
|
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<strong>
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<em>
|
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Cytogenetic location: <a href="/geneMap/22/421?start=-3&limit=10&highlight=421">22q13.33</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr22:50578963-50582849&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">22:50,578,963-50,582,849</a> </span>
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</em>
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</div>
|
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<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
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<tr class="active">
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<th>
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Location
|
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</th>
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<th>
|
|
Phenotype
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</th>
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<th>
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|
Phenotype <br /> MIM number
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|
</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
|
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
|
<a href="/geneMap/22/421?start=-3&limit=10&highlight=421">
|
|
22q13.33
|
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</a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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Muscular dystrophy, congenital, megaconial type
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
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<a href="/entry/602541"> 602541 </a>
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/612395" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<p>Choline kinases (<a href="https://enzyme.expasy.org/EC/2.7.1.32" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 2.7.1.32</a>), such as CHKB and CHKA (<a href="/entry/118491">118491</a>), catalyze phosphorylation of choline by ATP in the presence of Mg(2+), yielding phosphocholine and ADP. This step commits choline to the enzymatic pathway for biosynthesis of phosphatidylcholine (<a href="#3" class="mim-tip-reference" title="Ishidate, K. <strong>Choline/ethanolamine kinase from mammalian tissues.</strong> Biochim. Biophys. Acta 1348: 70-78, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9370318/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9370318</a>] [<a href="https://doi.org/10.1016/s0005-2760(97)00118-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9370318">Ishidate, 1997</a>; <a href="#1" class="mim-tip-reference" title="Aoyama, C., Yamazaki, N., Terada, H., Ishidate, K. <strong>Structure and characterization of the genes for murine choline/ethanolamine kinase isozymes alpha and beta.</strong> J. Lipid Res. 41: 452-464, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10706593/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10706593</a>]" pmid="10706593">Aoyama et al., 2000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10706593+9370318" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By screening a placenta genomic DNA library with a partial CHKB genomic clone, followed by RT-PCR and 3-prime RACE of heart and skeletal muscle RNA, <a href="#7" class="mim-tip-reference" title="Yamazaki, N., Shinohara, Y., Kajimoto, K., Shindo, M., Terada, H. <strong>Novel expression of equivocal messages containing both regions of choline/ethanolamine kinase and muscle type carnitine palmitoyltransferase I.</strong> J. Biol. Chem. 275: 31739-31746, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10918069/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10918069</a>] [<a href="https://doi.org/10.1074/jbc.M006322200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10918069">Yamazaki et al. (2000)</a> cloned human CHKB, which they called CKEKB. The deduced 395-amino acid CHEKB protein has a calculated molecular mass of about 45 kD and is about 86% homologous to rat and mouse Ckekb. By RT-PCR of human heart and skeletal muscle mRNA, <a href="#7" class="mim-tip-reference" title="Yamazaki, N., Shinohara, Y., Kajimoto, K., Shindo, M., Terada, H. <strong>Novel expression of equivocal messages containing both regions of choline/ethanolamine kinase and muscle type carnitine palmitoyltransferase I.</strong> J. Biol. Chem. 275: 31739-31746, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10918069/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10918069</a>] [<a href="https://doi.org/10.1074/jbc.M006322200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10918069">Yamazaki et al. (2000)</a> also identified fusion transcripts in which 3-prime exons from the CKEKB gene were spliced to either exon 1A or exon 2 of the downstream MCPT1 gene (CPT1B; <a href="/entry/601987">601987</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10918069" 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="#1" class="mim-tip-reference" title="Aoyama, C., Yamazaki, N., Terada, H., Ishidate, K. <strong>Structure and characterization of the genes for murine choline/ethanolamine kinase isozymes alpha and beta.</strong> J. Lipid Res. 41: 452-464, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10706593/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10706593</a>]" pmid="10706593">Aoyama et al. (2000)</a> cloned mouse Chekb and identified human CKEKB by database analysis. The deduced proteins contain several highly conserved domains, including a Brenner phosphotransferase consensus sequence involved in catalytic function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10706593" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#7" class="mim-tip-reference" title="Yamazaki, N., Shinohara, Y., Kajimoto, K., Shindo, M., Terada, H. <strong>Novel expression of equivocal messages containing both regions of choline/ethanolamine kinase and muscle type carnitine palmitoyltransferase I.</strong> J. Biol. Chem. 275: 31739-31746, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10918069/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10918069</a>] [<a href="https://doi.org/10.1074/jbc.M006322200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10918069">Yamazaki et al. (2000)</a> determined that the CHKB gene contains 11 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10918069" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By genomic sequence analysis, <a href="#7" class="mim-tip-reference" title="Yamazaki, N., Shinohara, Y., Kajimoto, K., Shindo, M., Terada, H. <strong>Novel expression of equivocal messages containing both regions of choline/ethanolamine kinase and muscle type carnitine palmitoyltransferase I.</strong> J. Biol. Chem. 275: 31739-31746, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10918069/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10918069</a>] [<a href="https://doi.org/10.1074/jbc.M006322200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10918069">Yamazaki et al. (2000)</a> mapped the CHKB gene to chromosome 22q13, less than 1 kb upstream of the CPT1B gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10918069" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Based on the phenotype of the rostrocaudal muscular dystrophy (rmd) mouse due to a deletion in the Chkb gene (<a href="#6" class="mim-tip-reference" title="Sher, R. B., Aoyama, C., Huebsch, K. A., Ji, S., Kerner, J., Yang, Y., Frankel, W. N., Hoppel, C. L., Wood, P. A., Vance, D. E., Cox, G. A. <strong>A rostrocaudal muscular dystrophy caused by a defect in choline kinase beta, the first enzyme in phosphatidylcholine biosynthesis.</strong> J. Biol. Chem. 281: 4938-4948, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16371353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16371353</a>] [<a href="https://doi.org/10.1074/jbc.M512578200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16371353">Sher et al., 2006</a>), <a href="#4" class="mim-tip-reference" title="Mitsuhashi, S., Ohkuma, A., Talim, B., Karahashi, M., Koumura, T., Aoyama, C., Kurihara, M., Quinlivan, R., Sewry, C., Mitsuhashi, H., Goto, K., Koksal, B., and 12 others. <strong>A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis.</strong> Am. J. Hum. Genet. 88: 845-851, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21665002/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21665002</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21665002[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/10.1016/j.ajhg.2011.05.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21665002">Mitsuhashi et al. (2011)</a> screened the CHKB gene in 15 patients with megaconial-type congenital muscular dystrophy (MDCMC; <a href="/entry/602541">602541</a>) and identified homozygous or compound heterozygous mutations in all patients (see, e.g., <a href="#0001">612395.0001</a>-<a href="#0005">612395.0005</a>). Eleven mutations were identified, including 6 nonsense, 2 missense, a deletion, and 2 splice site mutations. Skeletal muscle biopsies had no detectable choline kinase (CHK) activity, consistent with a loss of function, and also showed decreased amounts of phosphatidylcholine, and CHKA was not detected in normal human muscle, suggesting that CHKB is the major isoform in skeletal muscle. The findings indicated that this muscle disease is caused by disruption of a phospholipid de novo biosynthetic pathway, demonstrating the important role of phosphatidylcholine in muscle and brain. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16371353+21665002" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#6" class="mim-tip-reference" title="Sher, R. B., Aoyama, C., Huebsch, K. A., Ji, S., Kerner, J., Yang, Y., Frankel, W. N., Hoppel, C. L., Wood, P. A., Vance, D. E., Cox, G. A. <strong>A rostrocaudal muscular dystrophy caused by a defect in choline kinase beta, the first enzyme in phosphatidylcholine biosynthesis.</strong> J. Biol. Chem. 281: 4938-4948, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16371353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16371353</a>] [<a href="https://doi.org/10.1074/jbc.M512578200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16371353">Sher et al. (2006)</a> reported a spontaneous autosomal recessive mouse model of rostrocaudal muscular dystrophy (rmd) characterized by early-onset of progressive muscle wasting and hindlimb weakness and an outward rotation of the forelimbs associated with defective bone morphology. Affected rmd/rmd mice developed severe hindlimb control by 2 to 3 months of age. Hindlimb muscles showed severe dystrophic features, with centralized nuclei, fatty infiltration, and loss of muscle fibers, with subtle disruption of the sarcolemmal membrane apparent on electron microscopy. However, affected muscles contained extremely large mitochondria without abnormal respiratory chain immunostaining in affected muscles. Positional cloning allowed identification of a 1.6-kb deletion in the Chkb gene as causative for the rmd phenotype. Western blot analysis confirmed complete loss of the Chkb protein, and there was decreased enzymatic activity of choline kinase and decreased levels of phosphatidylcholine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16371353" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs750764003 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs750764003;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs750764003?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs750764003" 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=rs750764003" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 2 unrelated Japanese patients with megaconial-type congenital muscular dystrophy (MDCMC; <a href="/entry/602541">602541</a>) previously reported by <a href="#5" class="mim-tip-reference" title="Nishino, I., Kobayashi, O., Goto, Y.-I., Kurihara, M., Kumagai, K., Fujita, T., Hashimoto, K., Horai, S., Nonaka, I. <strong>A new congenital muscular dystrophy with mitochondrial structural abnormalities.</strong> Muscle Nerve 21: 40-47, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9427222/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9427222</a>] [<a href="https://doi.org/10.1002/(sici)1097-4598(199801)21:1<40::aid-mus6>3.0.co;2-g" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9427222">Nishino et al. (1998)</a>, <a href="#4" class="mim-tip-reference" title="Mitsuhashi, S., Ohkuma, A., Talim, B., Karahashi, M., Koumura, T., Aoyama, C., Kurihara, M., Quinlivan, R., Sewry, C., Mitsuhashi, H., Goto, K., Koksal, B., and 12 others. <strong>A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis.</strong> Am. J. Hum. Genet. 88: 845-851, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21665002/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21665002</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21665002[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/10.1016/j.ajhg.2011.05.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21665002">Mitsuhashi et al. (2011)</a> identified a homozygous 810T-A transition in exon 7 of the CHKB gene, resulting in a tyr270-to-ter (Y270X) substitution. Skeletal muscle biopsy had no detectable choline kinase (CHK) activity, consistent with a loss of function. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9427222+21665002" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Spanish boy with MDCMC and a combined defect of mitochondrial respiratory chain enzyme activity, <a href="#2" class="mim-tip-reference" title="Castro-Gago, M., Dacruz-Alvarez, D., Pintos-Martinez, E., Beiras-Iglesias, A., Delmiro, A., Arenas, J., Martin, M. A., Martinez-Azorin, F. <strong>Exome sequencing identifies a CHKB mutation in Spanish patient with megaconial congenital muscular dystrophy and mtDNA depletion.</strong> Europ. J. Paediat. Neurol. 18: 796-800, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24997086/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24997086</a>] [<a href="https://doi.org/10.1016/j.ejpn.2014.06.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24997086">Castro-Gago et al. (2014)</a> identified a homozygous Y270X mutation (c.810T-A, NM_005198) in the CHKB gene. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. Additional genetic causes for the respiratory chain deficiency were excluded, suggesting that a defect in phospholipid metabolism can result in mitochondrial dysfunction. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24997086" 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">rs387907068 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907068;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=rs387907068" 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=rs387907068" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 2 Japanese sibs with megaconial-type congenital muscular dystrophy (MDCMC; <a href="/entry/602541">602541</a>) previously reported by <a href="#5" class="mim-tip-reference" title="Nishino, I., Kobayashi, O., Goto, Y.-I., Kurihara, M., Kumagai, K., Fujita, T., Hashimoto, K., Horai, S., Nonaka, I. <strong>A new congenital muscular dystrophy with mitochondrial structural abnormalities.</strong> Muscle Nerve 21: 40-47, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9427222/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9427222</a>] [<a href="https://doi.org/10.1002/(sici)1097-4598(199801)21:1<40::aid-mus6>3.0.co;2-g" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9427222">Nishino et al. (1998)</a>, <a href="#4" class="mim-tip-reference" title="Mitsuhashi, S., Ohkuma, A., Talim, B., Karahashi, M., Koumura, T., Aoyama, C., Kurihara, M., Quinlivan, R., Sewry, C., Mitsuhashi, H., Goto, K., Koksal, B., and 12 others. <strong>A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis.</strong> Am. J. Hum. Genet. 88: 845-851, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21665002/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21665002</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21665002[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/10.1016/j.ajhg.2011.05.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21665002">Mitsuhashi et al. (2011)</a> identified compound heterozygosity for 2 mutations in the CHKB gene: a 116C-A transversion in exon 1, resulting in a ser39-to-ter (S39X) substitution, and 1-bp duplication (458dup; <a href="#0003">612395.0003</a>) in exon 3, resulting in a frameshift and premature termination after 57 amino acids. Skeletal muscle biopsy had no detectable CHK activity, consistent with a loss of function. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9427222+21665002" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>For discussion of the 1-bp duplication in the CHKB gene (458dup) that was found in compound heterozygous state in patients with megaconial-type congenital muscular dystrophy (MDCMC; <a href="/entry/602541">602541</a>) by <a href="#4" class="mim-tip-reference" title="Mitsuhashi, S., Ohkuma, A., Talim, B., Karahashi, M., Koumura, T., Aoyama, C., Kurihara, M., Quinlivan, R., Sewry, C., Mitsuhashi, H., Goto, K., Koksal, B., and 12 others. <strong>A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis.</strong> Am. J. Hum. Genet. 88: 845-851, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21665002/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21665002</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21665002[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/10.1016/j.ajhg.2011.05.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21665002">Mitsuhashi et al. (2011)</a>, see <a href="#0002">612395.0002</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21665002" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a Turkish patient with megaconial-type congenital muscular dystrophy (MDCMC; <a href="/entry/602541">602541</a>), <a href="#4" class="mim-tip-reference" title="Mitsuhashi, S., Ohkuma, A., Talim, B., Karahashi, M., Koumura, T., Aoyama, C., Kurihara, M., Quinlivan, R., Sewry, C., Mitsuhashi, H., Goto, K., Koksal, B., and 12 others. <strong>A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis.</strong> Am. J. Hum. Genet. 88: 845-851, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21665002/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21665002</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21665002[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/10.1016/j.ajhg.2011.05.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21665002">Mitsuhashi et al. (2011)</a> identified a homozygous 922C-T transition in exon 8 of the CHKB gene, resulting in a gln308-to-ter (Q308X) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21665002" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 3 unrelated Turkish patients with megaconial-type congenital muscular dystrophy (MDCMC; <a href="/entry/602541">602541</a>), <a href="#4" class="mim-tip-reference" title="Mitsuhashi, S., Ohkuma, A., Talim, B., Karahashi, M., Koumura, T., Aoyama, C., Kurihara, M., Quinlivan, R., Sewry, C., Mitsuhashi, H., Goto, K., Koksal, B., and 12 others. <strong>A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis.</strong> Am. J. Hum. Genet. 88: 845-851, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21665002/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21665002</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21665002[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/10.1016/j.ajhg.2011.05.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21665002">Mitsuhashi et al. (2011)</a> identified a homozygous G-to-A transition (677+1G-A) in intron 5 of the CHKB gene, resulting in a splice site mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21665002" 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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<a id="1" class="mim-anchor"></a>
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<a id="Aoyama2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Aoyama, C., Yamazaki, N., Terada, H., Ishidate, K.
|
|
<strong>Structure and characterization of the genes for murine choline/ethanolamine kinase isozymes alpha and beta.</strong>
|
|
J. Lipid Res. 41: 452-464, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10706593/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10706593</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10706593" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="2" class="mim-anchor"></a>
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<a id="Castro-Gago2014" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Castro-Gago, M., Dacruz-Alvarez, D., Pintos-Martinez, E., Beiras-Iglesias, A., Delmiro, A., Arenas, J., Martin, M. A., Martinez-Azorin, F.
|
|
<strong>Exome sequencing identifies a CHKB mutation in Spanish patient with megaconial congenital muscular dystrophy and mtDNA depletion.</strong>
|
|
Europ. J. Paediat. Neurol. 18: 796-800, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24997086/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24997086</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24997086" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ejpn.2014.06.005" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="3" class="mim-anchor"></a>
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<a id="Ishidate1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ishidate, K.
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|
<strong>Choline/ethanolamine kinase from mammalian tissues.</strong>
|
|
Biochim. Biophys. Acta 1348: 70-78, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9370318/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9370318</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9370318" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0005-2760(97)00118-5" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Mitsuhashi2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Mitsuhashi, S., Ohkuma, A., Talim, B., Karahashi, M., Koumura, T., Aoyama, C., Kurihara, M., Quinlivan, R., Sewry, C., Mitsuhashi, H., Goto, K., Koksal, B., and 12 others.
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<strong>A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis.</strong>
|
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Am. J. Hum. Genet. 88: 845-851, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21665002/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21665002</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21665002[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=21665002" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2011.05.010" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Nishino1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nishino, I., Kobayashi, O., Goto, Y.-I., Kurihara, M., Kumagai, K., Fujita, T., Hashimoto, K., Horai, S., Nonaka, I.
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|
<strong>A new congenital muscular dystrophy with mitochondrial structural abnormalities.</strong>
|
|
Muscle Nerve 21: 40-47, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9427222/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9427222</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9427222" 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/(sici)1097-4598(199801)21:1<40::aid-mus6>3.0.co;2-g" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Sher2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sher, R. B., Aoyama, C., Huebsch, K. A., Ji, S., Kerner, J., Yang, Y., Frankel, W. N., Hoppel, C. L., Wood, P. A., Vance, D. E., Cox, G. A.
|
|
<strong>A rostrocaudal muscular dystrophy caused by a defect in choline kinase beta, the first enzyme in phosphatidylcholine biosynthesis.</strong>
|
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J. Biol. Chem. 281: 4938-4948, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16371353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16371353</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16371353" 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.M512578200" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Yamazaki2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yamazaki, N., Shinohara, Y., Kajimoto, K., Shindo, M., Terada, H.
|
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<strong>Novel expression of equivocal messages containing both regions of choline/ethanolamine kinase and muscle type carnitine palmitoyltransferase I.</strong>
|
|
J. Biol. Chem. 275: 31739-31746, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10918069/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10918069</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10918069" 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.M006322200" target="_blank">Full Text</a>]
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</p>
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</div>
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</ol>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 5/5/2015
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 6/30/2011
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz : 11/10/2008
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</span>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 03/19/2024
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 07/27/2023<br>alopez : 05/07/2015<br>mcolton : 5/6/2015<br>ckniffin : 5/5/2015<br>carol : 9/13/2013<br>wwang : 7/13/2011<br>wwang : 7/6/2011<br>ckniffin : 6/30/2011<br>mgross : 11/10/2008
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</span>
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</div>
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<div class="container visible-print-block">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 612395
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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CHOLINE KINASE, BETA; CHKB
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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CKB<br />
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CHOLINE KINASE-LIKE PROTEIN; CHKL<br />
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CHOLINE/ETHANOLAMINE KINASE, BETA; CKEKB<br />
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|
ETHANOLAMINE KINASE, BETA; EKB
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: CHKB</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 1230273004;
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</span>
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</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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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 22q13.33
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Genomic coordinates <span class="small">(GRCh38)</span> : 22:50,578,963-50,582,849 </span>
|
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</em>
|
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</strong>
|
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<span class="small">(from NCBI)</span>
|
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</h4>
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
|
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Inheritance
|
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</th>
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<th>
|
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
|
22q13.33
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
Muscular dystrophy, congenital, megaconial type
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
602541
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
Autosomal recessive
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
3
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>TEXT</strong>
|
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</span>
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</h4>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Choline kinases (EC 2.7.1.32), such as CHKB and CHKA (118491), catalyze phosphorylation of choline by ATP in the presence of Mg(2+), yielding phosphocholine and ADP. This step commits choline to the enzymatic pathway for biosynthesis of phosphatidylcholine (Ishidate, 1997; Aoyama et al., 2000). </p>
|
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</span>
|
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<div>
|
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Cloning and Expression</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
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<p>By screening a placenta genomic DNA library with a partial CHKB genomic clone, followed by RT-PCR and 3-prime RACE of heart and skeletal muscle RNA, Yamazaki et al. (2000) cloned human CHKB, which they called CKEKB. The deduced 395-amino acid CHEKB protein has a calculated molecular mass of about 45 kD and is about 86% homologous to rat and mouse Ckekb. By RT-PCR of human heart and skeletal muscle mRNA, Yamazaki et al. (2000) also identified fusion transcripts in which 3-prime exons from the CKEKB gene were spliced to either exon 1A or exon 2 of the downstream MCPT1 gene (CPT1B; 601987). </p><p>Aoyama et al. (2000) cloned mouse Chekb and identified human CKEKB by database analysis. The deduced proteins contain several highly conserved domains, including a Brenner phosphotransferase consensus sequence involved in catalytic function. </p>
|
|
</span>
|
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<div>
|
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<br />
|
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Yamazaki et al. (2000) determined that the CHKB gene contains 11 exons. </p>
|
|
</span>
|
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<div>
|
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<br />
|
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
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</h4>
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<span class="mim-text-font">
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<p>By genomic sequence analysis, Yamazaki et al. (2000) mapped the CHKB gene to chromosome 22q13, less than 1 kb upstream of the CPT1B gene. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Based on the phenotype of the rostrocaudal muscular dystrophy (rmd) mouse due to a deletion in the Chkb gene (Sher et al., 2006), Mitsuhashi et al. (2011) screened the CHKB gene in 15 patients with megaconial-type congenital muscular dystrophy (MDCMC; 602541) and identified homozygous or compound heterozygous mutations in all patients (see, e.g., 612395.0001-612395.0005). Eleven mutations were identified, including 6 nonsense, 2 missense, a deletion, and 2 splice site mutations. Skeletal muscle biopsies had no detectable choline kinase (CHK) activity, consistent with a loss of function, and also showed decreased amounts of phosphatidylcholine, and CHKA was not detected in normal human muscle, suggesting that CHKB is the major isoform in skeletal muscle. The findings indicated that this muscle disease is caused by disruption of a phospholipid de novo biosynthetic pathway, demonstrating the important role of phosphatidylcholine in muscle and brain. </p>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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<span class="mim-text-font">
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<p>Sher et al. (2006) reported a spontaneous autosomal recessive mouse model of rostrocaudal muscular dystrophy (rmd) characterized by early-onset of progressive muscle wasting and hindlimb weakness and an outward rotation of the forelimbs associated with defective bone morphology. Affected rmd/rmd mice developed severe hindlimb control by 2 to 3 months of age. Hindlimb muscles showed severe dystrophic features, with centralized nuclei, fatty infiltration, and loss of muscle fibers, with subtle disruption of the sarcolemmal membrane apparent on electron microscopy. However, affected muscles contained extremely large mitochondria without abnormal respiratory chain immunostaining in affected muscles. Positional cloning allowed identification of a 1.6-kb deletion in the Chkb gene as causative for the rmd phenotype. Western blot analysis confirmed complete loss of the Chkb protein, and there was decreased enzymatic activity of choline kinase and decreased levels of phosphatidylcholine. </p>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>5 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE</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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CHKB, TYR270TER
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<br />
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SNP: rs750764003,
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gnomAD: rs750764003,
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ClinVar: RCV000023942, RCV004755750
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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 2 unrelated Japanese patients with megaconial-type congenital muscular dystrophy (MDCMC; 602541) previously reported by Nishino et al. (1998), Mitsuhashi et al. (2011) identified a homozygous 810T-A transition in exon 7 of the CHKB gene, resulting in a tyr270-to-ter (Y270X) substitution. Skeletal muscle biopsy had no detectable choline kinase (CHK) activity, consistent with a loss of function. </p><p>In a Spanish boy with MDCMC and a combined defect of mitochondrial respiratory chain enzyme activity, Castro-Gago et al. (2014) identified a homozygous Y270X mutation (c.810T-A, NM_005198) in the CHKB gene. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. Additional genetic causes for the respiratory chain deficiency were excluded, suggesting that a defect in phospholipid metabolism can result in mitochondrial dysfunction. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE</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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CHKB, SER39TER
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<br />
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SNP: rs387907068,
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ClinVar: RCV000023943
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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 2 Japanese sibs with megaconial-type congenital muscular dystrophy (MDCMC; 602541) previously reported by Nishino et al. (1998), Mitsuhashi et al. (2011) identified compound heterozygosity for 2 mutations in the CHKB gene: a 116C-A transversion in exon 1, resulting in a ser39-to-ter (S39X) substitution, and 1-bp duplication (458dup; 612395.0003) in exon 3, resulting in a frameshift and premature termination after 57 amino acids. Skeletal muscle biopsy had no detectable CHK activity, consistent with a loss of function. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE</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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CHKB, 1-BP DUP, NT458
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<br />
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SNP: rs786205117,
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ClinVar: RCV000023944
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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>For discussion of the 1-bp duplication in the CHKB gene (458dup) that was found in compound heterozygous state in patients with megaconial-type congenital muscular dystrophy (MDCMC; 602541) by Mitsuhashi et al. (2011), see 612395.0002. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0004 MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE</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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CHKB, GLN308TER
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<br />
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SNP: rs387907069,
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|
|
ClinVar: RCV000023945
|
|
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Turkish patient with megaconial-type congenital muscular dystrophy (MDCMC; 602541), Mitsuhashi et al. (2011) identified a homozygous 922C-T transition in exon 8 of the CHKB gene, resulting in a gln308-to-ter (Q308X) substitution. </p>
|
|
</span>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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<div>
|
|
<span class="mim-text-font">
|
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|
CHKB, IVS5DS, G-A, +1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs786205118,
|
|
|
|
|
|
|
|
ClinVar: RCV000023946
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 unrelated Turkish patients with megaconial-type congenital muscular dystrophy (MDCMC; 602541), Mitsuhashi et al. (2011) identified a homozygous G-to-A transition (677+1G-A) in intron 5 of the CHKB gene, resulting in a splice site mutation. </p>
|
|
</span>
|
|
</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
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<div>
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<p />
|
|
</div>
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<div>
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<ol>
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<li>
|
|
<p class="mim-text-font">
|
|
Aoyama, C., Yamazaki, N., Terada, H., Ishidate, K.
|
|
<strong>Structure and characterization of the genes for murine choline/ethanolamine kinase isozymes alpha and beta.</strong>
|
|
J. Lipid Res. 41: 452-464, 2000.
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[PubMed: 10706593]
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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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Castro-Gago, M., Dacruz-Alvarez, D., Pintos-Martinez, E., Beiras-Iglesias, A., Delmiro, A., Arenas, J., Martin, M. A., Martinez-Azorin, F.
|
|
<strong>Exome sequencing identifies a CHKB mutation in Spanish patient with megaconial congenital muscular dystrophy and mtDNA depletion.</strong>
|
|
Europ. J. Paediat. Neurol. 18: 796-800, 2014.
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[PubMed: 24997086]
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[Full Text: https://doi.org/10.1016/j.ejpn.2014.06.005]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Ishidate, K.
|
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<strong>Choline/ethanolamine kinase from mammalian tissues.</strong>
|
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Biochim. Biophys. Acta 1348: 70-78, 1997.
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[PubMed: 9370318]
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[Full Text: https://doi.org/10.1016/s0005-2760(97)00118-5]
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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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Mitsuhashi, S., Ohkuma, A., Talim, B., Karahashi, M., Koumura, T., Aoyama, C., Kurihara, M., Quinlivan, R., Sewry, C., Mitsuhashi, H., Goto, K., Koksal, B., and 12 others.
|
|
<strong>A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis.</strong>
|
|
Am. J. Hum. Genet. 88: 845-851, 2011.
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[PubMed: 21665002]
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[Full Text: https://doi.org/10.1016/j.ajhg.2011.05.010]
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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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Nishino, I., Kobayashi, O., Goto, Y.-I., Kurihara, M., Kumagai, K., Fujita, T., Hashimoto, K., Horai, S., Nonaka, I.
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<strong>A new congenital muscular dystrophy with mitochondrial structural abnormalities.</strong>
|
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Muscle Nerve 21: 40-47, 1998.
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[PubMed: 9427222]
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[Full Text: https://doi.org/10.1002/(sici)1097-4598(199801)21:1<40::aid-mus6>3.0.co;2-g]
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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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Sher, R. B., Aoyama, C., Huebsch, K. A., Ji, S., Kerner, J., Yang, Y., Frankel, W. N., Hoppel, C. L., Wood, P. A., Vance, D. E., Cox, G. A.
|
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<strong>A rostrocaudal muscular dystrophy caused by a defect in choline kinase beta, the first enzyme in phosphatidylcholine biosynthesis.</strong>
|
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J. Biol. Chem. 281: 4938-4948, 2006.
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[PubMed: 16371353]
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[Full Text: https://doi.org/10.1074/jbc.M512578200]
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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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Yamazaki, N., Shinohara, Y., Kajimoto, K., Shindo, M., Terada, H.
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<strong>Novel expression of equivocal messages containing both regions of choline/ethanolamine kinase and muscle type carnitine palmitoyltransferase I.</strong>
|
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J. Biol. Chem. 275: 31739-31746, 2000.
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[PubMed: 10918069]
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[Full Text: https://doi.org/10.1074/jbc.M006322200]
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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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Cassandra L. Kniffin - updated : 5/5/2015<br>Cassandra L. Kniffin - updated : 6/30/2011
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</span>
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</div>
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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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Patricia A. Hartz : 11/10/2008
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<span class="text-nowrap mim-text-font">
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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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carol : 03/19/2024<br>carol : 07/27/2023<br>alopez : 05/07/2015<br>mcolton : 5/6/2015<br>ckniffin : 5/5/2015<br>carol : 9/13/2013<br>wwang : 7/13/2011<br>wwang : 7/6/2011<br>ckniffin : 6/30/2011<br>mgross : 11/10/2008
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and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal
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medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
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OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
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