5129 lines
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- *607839 - GLYCOGEN BRANCHING ENZYME; GBE1
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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">*607839</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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<li role="presentation">
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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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<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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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/607839">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 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=ENSG00000114480;t=ENST00000429644" 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=2632" 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=607839" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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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=ENSG00000114480;t=ENST00000429644" 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_000158,XR_007095662" 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_000158" 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=607839" 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=01985&isoform_id=01985_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/GBE1" 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/184026,15082371,62089042,119589285,119589286,193785112,194374001,194388574,357529509,444737809,1519312189" 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/Q04446" 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=2632" 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=ENSG00000114480;t=ENST00000429644" 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=GBE1" 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=GBE1" 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+2632" 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/GBE1" 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:2632" 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/2632" 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=chr3&hgg_gene=ENST00000429644.7&hgg_start=81489703&hgg_end=81761645&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:4180" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:4180" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/gbe1" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=607839[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=607839[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://www.deciphergenomics.org/gene/GBE1/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000114480" 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=GBE1" 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=GBE1" 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=GBE1" 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=GBE1&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/PA28594" 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:4180" 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/FBgn0053138.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:1921435" 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/GBE1#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:1921435" 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/2632/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://omia.org/OMIA000420/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=2632" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00011409;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-110411-171" 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:2632" 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=GBE1&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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607839
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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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GLYCOGEN BRANCHING ENZYME; GBE1
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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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
GBE<br />
|
|
1,4-ALPHA-GLUCAN BRANCHING ENZYME<br />
|
|
AMYLO-(1,4 to 1,6) TRANSGLUCOSIDASE<br />
|
|
AMYLO-(1,4 to 1,6) TRANSGLYCOSYLASE
|
|
</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>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=GBE1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">GBE1</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>
|
|
<span class="mim-text-font">
|
|
<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/3/472?start=-3&limit=10&highlight=472">3p12.2</a>
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|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr3:81489703-81761645&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'})">3:81,489,703-81,761,645</a> </span>
|
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</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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|
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</span>
|
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</p>
|
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</div>
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<div>
|
|
<br />
|
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</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=232500,263570" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/3/472?start=-3&limit=10&highlight=472">
|
|
3p12.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Glycogen storage disease IV
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/232500"> 232500 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
|
|
|
|
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|
|
|
</tr>
|
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|
|
|
|
|
|
|
|
|
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Polyglucosan body disease, adult form
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/263570"> 263570 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
</tbody>
|
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<p>The GBE1 gene encodes the glycogen branching enzyme (<a href="https://enzyme.expasy.org/EC/2.4.1.18" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 2.4.1.18</a>), which is involved in glycogen synthesis that catalyzes the transfer of alpha-1,4-linked glucosyl units from the outer end of a glycogen chain to an alpha-1,6 position on the same or a neighboring glycogen chain. Branching of the chains is essential to pack a very large number of glycosyl units into a relatively soluble spherical molecule.</p>
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<p><a href="#16" class="mim-tip-reference" title="Thon, V. J., Khalil, M., Cannon, J. F. <strong>Isolation of human glycogen branching enzyme cDNAs by screening complementation in yeast.</strong> J. Biol. Chem. 268: 7509-7513, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8463281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8463281</a>]" pmid="8463281">Thon et al. (1993)</a> used functional complementation of the Saccharomyces cerevisiae glycogen branching enzyme deficiency to isolate human cDNAs that encode the glycogen branching enzyme. The human and yeast glycogen branching enzymes were found to have 67% identical amino acid sequence over a major portion of their length. The full length of the cDNA was approximately 3 kb. The coding sequence contained 2,106 bp encoding a 702-amino acid protein. The calculated molecular mass of the GBE1 protein, derived from its cDNA sequence, was 80,438 Da. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8463281" 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 Southern blot analysis of DNA derived from human/rodent somatic cell hybrids, <a href="#16" class="mim-tip-reference" title="Thon, V. J., Khalil, M., Cannon, J. F. <strong>Isolation of human glycogen branching enzyme cDNAs by screening complementation in yeast.</strong> J. Biol. Chem. 268: 7509-7513, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8463281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8463281</a>]" pmid="8463281">Thon et al. (1993)</a> mapped the GBE1 gene to chromosome 3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8463281" 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><strong><em>Glycogen Storage Disease IV</em></strong></p><p>
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In 2 patients with the classic hepatic presentation of glycogen storage disease IV (GSD4; <a href="/entry/232500">232500</a>), <a href="#5" class="mim-tip-reference" title="Bao, Y., Kishnani, P., Wu, J.-Y., Chen, Y.-T. <strong>Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.</strong> J. Clin. Invest. 97: 941-948, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8613547/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8613547</a>] [<a href="https://doi.org/10.1172/JCI118517" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8613547">Bao et al. (1996)</a> found 2 missense mutations (<a href="#0004">607839.0004</a>, <a href="#0005">607839.0005</a>) and 1 nonsense mutation (<a href="#0006">607839.0006</a>) in the GBE1 gene. Transient expression experiments showed that these mutations inactivated glycogen branching enzyme activity. In a different patient with the nonprogressive hepatic form of GSD IV, <a href="#5" class="mim-tip-reference" title="Bao, Y., Kishnani, P., Wu, J.-Y., Chen, Y.-T. <strong>Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.</strong> J. Clin. Invest. 97: 941-948, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8613547/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8613547</a>] [<a href="https://doi.org/10.1172/JCI118517" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8613547">Bao et al. (1996)</a> identified compound heterozygosity for 2 mutations in the GBE1 gene; one of these resulted in complete loss of GBE1 activity (<a href="#0003">607839.0003</a>), whereas the other resulted in loss of approximately 50% of GBE1 activity (<a href="#0002">607839.0002</a>). In a patient with the fatal neonatal neuromuscular form of GSD IV, they found a 210-bp deletion in the GBE1 cDNA (<a href="#0001">607839.0001</a>). The findings indicated that all 3 forms of GSD IV are caused by mutations in the same gene, and that significant retention of GBE1 activity may underlie milder forms of the disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8613547" 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="#8" class="mim-tip-reference" title="Burrow, T. A., Hopkin, R. J., Bove, K. E., Miles, L., Wong, B. L., Choudhary, A., Bali, D., Li, S. C., Chen, Y.-T. <strong>Non-lethal congenital hypotonia due to glycogen storage disease type IV.</strong> Am. J. Med. Genet. 140A: 878-882, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16528737/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16528737</a>] [<a href="https://doi.org/10.1002/ajmg.a.31166" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16528737">Burrow et al. (2006)</a> reported a 30-month-old girl with GSD IV who had stable congenital hypotonia, gross motor delay, and severe fibrofatty replacement of the musculature, but no hepatic or cardiac involvement. Molecular analysis identified compound heterozygosity for 2 missense mutations in the GBE1 gene (<a href="#0015">607839.0015</a> and <a href="#0016">607839.0016</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16528737" 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><strong><em>Adult Polyglucosan Body Neuropathy</em></strong></p><p>
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In 7 Jewish patients with adult polyglucosan body neuropathy (APBN; <a href="/entry/263570">263570</a>), <a href="#12" class="mim-tip-reference" title="Lossos, A., Meiner, Z., Barash, V., Soffer, D., Schlesinger, I., Abramsky, O., Argov, Z., Shpitzen, S., Meiner, V. <strong>Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the tyr329ser mutation in the glycogen-branching enzyme gene.</strong> Ann. Neurol. 44: 867-872, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9851430/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9851430</a>] [<a href="https://doi.org/10.1002/ana.410440604" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9851430">Lossos et al. (1998)</a> identified homozygosity for a missense mutation in the GBE1 gene (Y329S; <a href="#0002">607839.0002</a>). Related family members who were heterozygous for the mutation had only a partial biochemical defect, thereby demonstrating dosage effect of the mutant allele consistent with simple autosomal recessive transmission. The authors noted that the same mutation had been identified in heterozygous state in a 20-year-old person with normal liver function, and in compound heterozygous state in a nonprogressive form of GSD IV. They concluded that APBN represents an allelic variant of GSD IV. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9851430" 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 non-Ashkenazi patient with APBN, <a href="#19" class="mim-tip-reference" title="Ziemssen, F., Sindern, E., Schroder, J. M., Shin, Y. S., Zange, J., Kilimann, M. W., Malin, J.-P., Vorgerd, M. <strong>Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease.</strong> Ann. Neurol. 47: 536-540, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10762170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10762170</a>]" pmid="10762170">Ziemssen et al. (2000)</a> identified compound heterozygous mutations in the GBE1 gene: an R515H mutation (<a href="#0019">607839.0019</a>) and an R524Q mutation (<a href="#0007">607839.0007</a>); the latter mutation had previously been identified in a patient with GSD IV by <a href="#6" class="mim-tip-reference" title="Bruno, C., DiRocco, M., Lamba, L. D., Bado, M., Marino, C., Tsujino, S., Shanske, S., Stella, G., Minetti, C., van Diggelen, O. P., DiMauro, S. <strong>A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy.</strong> Neuromusc. Disord. 9: 403-407, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10545044/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10545044</a>] [<a href="https://doi.org/10.1016/s0960-8966(99)00040-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10545044">Bruno et al. (1999)</a>. The findings confirmed that APBN and GSD IV are allelic disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10545044+10762170" 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><strong><em>Reviews</em></strong></p><p>
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In a review and consensus paper focused on GSD IV and APBD, <a href="#11" class="mim-tip-reference" title="Koch, R. L., Soler-Alfonso, C., Kiely, B. T., Asai, A., Smith, A. L., Bali, D. S., Kang, P. B., Landstrom, A. P., Akman, H. O., Burrow, T. A., Orthmann-Murphy, J. L., Goldman, D. S., Pendyal, S., El-Gharbawy, A. H., Austin, S. L., Case, L. E., Schiffmann, R., Hirano, M., Kishnani, P. S. <strong>Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: a clinical practice resource.</strong> Molec. Genet. Metab. 138: 107525, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/36796138/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">36796138</a>] [<a href="https://doi.org/10.1016/j.ymgme.2023.107525" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="36796138">Koch et al. (2023)</a> noted that a variety of GBE1 variants and large gene deletions had been shown to cause reduced GBE enzyme activity, with 128 pathogenic or likely pathogenic variants identified. Exon 12 appeared to be a mutation hotspot. GBE1 sequencing detected about 74% of the pathogenic and likely pathogenic mutations; when combined with deletion duplication analysis, this detection rate increased to about 85%. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=36796138" 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="#10" class="mim-tip-reference" title="Fyfe, J. C., Kurzhals, R. L., Henthorn, P. S., Patterson, D. F. <strong>Feline glycogenosis type IV is caused by a complex rearrangement deleting 6 kb of the branching enzyme gene and eliminating an exon. (Abstract)</strong> Am. J. Hum. Genet. 61: A251 only, 1997."None>Fyfe et al. (1997)</a> showed that a fatal form of GSD IV in Norwegian Forest cats, in which striated muscles and the nervous system are primarily affected, is caused by a 6.1-kb deletion that eliminates exon 12 of the feline GBE1 gene. <a href="#18" class="mim-tip-reference" title="Ward, T. L., Valberg, S. J., Adelson, D. L., Abbey, C. A., Binns, M. M., Mickelson, J. R. <strong>Glycogen branching enzyme (GBE1) mutation causing equine glycogen storage disease IV.</strong> Mammalian Genome 15: 570-577, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15366377/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15366377</a>] [<a href="https://doi.org/10.1007/s00335-004-2369-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15366377">Ward et al. (2004)</a> showed that a fatal neonatal disorder closely resembling GSD IV in the American Quarter horse is caused by a 102C-A transversion in exon 1 of the GBE1 gene, resulting in a tyr34-to-ter (Y34X) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15366377" 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="#9" class="mim-tip-reference" title="Fyfe, J. C., Kurzhals, R. L., Hawkins, M. G., Wang, P., Yuhki, N., Giger, U., Van Winkle, T. J., Haskins, M. E., Patterson, D. F., Henthorn, P. S. <strong>A complex rearrangement in GBE1 causes both perinatal hypoglycemic collapse and late-juvenile-onset neuromuscular degeneration in glycogen storage disease type IV of Norwegian forest cats.</strong> Molec. Genet. Metab. 90: 383-392, 2007. Note: Erratum: Molec. Genet. Metab. 104: 423 only, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17257876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17257876</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17257876[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.ymgme.2006.12.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17257876">Fyfe et al. (2007)</a> further characterized the GBE1 mutation in Norwegian forest cats and found that affected cats are homozygous for a complex rearrangement of genomic DNA in GBE1, constituted by a 334-bp insertion at the site of 6.2-kb deletion that extends from intron 11 to intron 12 (IVS11+1552_IVS12-1339 del6.2kb ins334bp), removing exon 12. Screening of 402 privately owned Norwegian forest cats revealed 58 carriers and 4 affected cats. Not all of these died in the neonatal period, suggesting a viable animal model for the studies of pathophysiology and development of novel therapeutic agents. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17257876" 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="Akman, H. O., Emmanuele, V., Kurt, Y. G., Kurt, B., Sheiko, T., DiMauro, S., Craigen, W. J. <strong>A novel mouse model that recapitulates adult-onset glycogenosis type 4.</strong> Hum. Molec. Genet. 24: 6801-6810, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26385640/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26385640</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26385640[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddv385" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26385640">Akman et al. (2015)</a> found that transgenic mice homozygous for the GBE1 Y329S hypomorphic allele (<a href="#0002">607839.0002</a>) developed muscle weakness, late-onset spastic paraplegia affecting the hindlimbs, and premature death. Pathologic examination showed progressive glycogen and polyglucosan body accumulation in various organs. The phenotype was reminiscent of APBD in humans. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26385640" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=607839[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs397515342 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397515342;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=rs397515342" 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=rs397515342" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a patient with neonatal hypotonia and cardiomyopathy secondary to glycogen storage disease IV (GSD4; <a href="/entry/232500">232500</a>) reported by <a href="#14" class="mim-tip-reference" title="Tang, T. T., Segura, A. D., Chen, Y.-T., Ricci, L. M., Franciosi, R. A., Splaingard, M. L., Lubinsky, M. S. <strong>Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis.</strong> Acta Neuropath. 87: 531-536, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8059607/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8059607</a>] [<a href="https://doi.org/10.1007/BF00294181" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8059607">Tang et al. (1994)</a>, <a href="#5" class="mim-tip-reference" title="Bao, Y., Kishnani, P., Wu, J.-Y., Chen, Y.-T. <strong>Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.</strong> J. Clin. Invest. 97: 941-948, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8613547/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8613547</a>] [<a href="https://doi.org/10.1172/JCI118517" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8613547">Bao et al. (1996)</a> found a 210-bp deletion from nucleotide 873 to 1082 of the GBE1 cDNA. This deletion resulted in a loss of 70 amino acids from the GBE polypeptide (262-331). This deletion, representing the loss of an exon, was caused by an AG-to-AA mutation at a 3-prime acceptor splice site, and abolished GBE1 activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8059607+8613547" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002 GLYCOGEN STORAGE DISEASE IV, NONPROGRESSIVE HEPATIC</strong>
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ADULT POLYGLUCOSAN BODY NEUROPATHY, INCLUDED
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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> rs80338671 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80338671;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/rs80338671?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=rs80338671" 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=rs80338671" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002907 OR RCV000020163 OR RCV000150105 OR RCV000304728 OR RCV000493505 OR RCV000555363 OR RCV000763520 OR RCV000991160" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002907, RCV000020163, RCV000150105, RCV000304728, RCV000493505, RCV000555363, RCV000763520, RCV000991160" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002907...</a>
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<p><strong><em>Glycogen Storage Disease IV</em></strong></p><p>
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In a Jewish female infant with the nonprogressive hepatic form of glycogen storage disease IV (GSD4; <a href="/entry/232500">232500</a>), <a href="#5" class="mim-tip-reference" title="Bao, Y., Kishnani, P., Wu, J.-Y., Chen, Y.-T. <strong>Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.</strong> J. Clin. Invest. 97: 941-948, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8613547/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8613547</a>] [<a href="https://doi.org/10.1172/JCI118517" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8613547">Bao et al. (1996)</a> found 2 missense mutations on separate alleles of the GBE1 gene: leu224-to-pro (L224P; <a href="#0003">607839.0003</a>) and tyr329-to-ser (Y329S). The L224P mutation resulted in complete loss of GBE1 activity, whereas the Y329S mutation resulted in loss of approximately 50% of GBE1 activity. <a href="#5" class="mim-tip-reference" title="Bao, Y., Kishnani, P., Wu, J.-Y., Chen, Y.-T. <strong>Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.</strong> J. Clin. Invest. 97: 941-948, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8613547/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8613547</a>] [<a href="https://doi.org/10.1172/JCI118517" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8613547">Bao et al. (1996)</a> detected the Y329S allele in another patient with the nonprogressive form of GSD IV but not in 35 unrelated controls or in patients with the more severe forms of GSD IV. The Y329S substitution resulted from an A-to-C transversion at nucleotide 1076. The second patient with the Y329S allele was 20 years old at the time of report and had normal liver function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8613547" 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><strong><em>Adult Polyglucosan Body Neuropathy</em></strong></p><p>
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In 7 Jewish patients with adult polyglucosan body neuropathy (APBN; <a href="/entry/263570">263570</a>), <a href="#12" class="mim-tip-reference" title="Lossos, A., Meiner, Z., Barash, V., Soffer, D., Schlesinger, I., Abramsky, O., Argov, Z., Shpitzen, S., Meiner, V. <strong>Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the tyr329ser mutation in the glycogen-branching enzyme gene.</strong> Ann. Neurol. 44: 867-872, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9851430/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9851430</a>] [<a href="https://doi.org/10.1002/ana.410440604" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9851430">Lossos et al. (1998)</a> identified homozygosity for the Y329S mutation. The authors concluded that despite the very different phenotypes of APBN and GSD IV, they are allelic disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9851430" 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="#13" class="mim-tip-reference" title="Mochel, F., Schiffmann, R., Steenweg, M. E., Akman, H. O., Wallace, M., Sedel, F., Laforet, P., Levy, R., Powers, J. M., Demeret, S., Maisonobe, T., Froissart, R., and 12 others. <strong>Adult polyglucosan body disease: natural history and key magnetic resonance imaging findings.</strong> Ann. Neurol. 72: 433-441, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23034915/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23034915</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23034915[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/10.1002/ana.23598" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23034915">Mochel et al. (2012)</a> identified the Y329S mutation in 35 (76%) of 50 patients with APBN, all of whom were of Ashkenazi Jewish origin. Thirteen of the patients carried the Y329S mutation in heterozygous state, but the gene was not exhaustively studied for other possible variants. <a href="#2" class="mim-tip-reference" title="Akman, H. O., Kakhlon, O., Coku, J., Peverelli, L., Rosenmann, H., Rozenstein-Tsalkovich, L., Turnbull, J., Meiner, V., Chama, L., Lerer, I., Shpitzen, S., Leitersdorf, E., Paradas, C., Wallace, M., Schiffmann, R., DiMauro, S., Lossos, A., Minassian, B. A. <strong>Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease.</strong> JAMA Neurol. 72: 441-445, 2015. Note: Erratum: JAMA Neurol. 72: 481 only, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25665141/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25665141</a>] [<a href="https://doi.org/10.1001/jamaneurol.2014.4496" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25665141">Akman et al. (2015)</a> performed follow-up of some of the heterozygous patients reported by <a href="#13" class="mim-tip-reference" title="Mochel, F., Schiffmann, R., Steenweg, M. E., Akman, H. O., Wallace, M., Sedel, F., Laforet, P., Levy, R., Powers, J. M., Demeret, S., Maisonobe, T., Froissart, R., and 12 others. <strong>Adult polyglucosan body disease: natural history and key magnetic resonance imaging findings.</strong> Ann. Neurol. 72: 433-441, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23034915/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23034915</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23034915[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/10.1002/ana.23598" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23034915">Mochel et al. (2012)</a>. In a cohort of 16 patients of Ashkenazi Jewish descent who were initially found to be heterozygous for the Y329S mutation, <a href="#2" class="mim-tip-reference" title="Akman, H. O., Kakhlon, O., Coku, J., Peverelli, L., Rosenmann, H., Rozenstein-Tsalkovich, L., Turnbull, J., Meiner, V., Chama, L., Lerer, I., Shpitzen, S., Leitersdorf, E., Paradas, C., Wallace, M., Schiffmann, R., DiMauro, S., Lossos, A., Minassian, B. A. <strong>Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease.</strong> JAMA Neurol. 72: 441-445, 2015. Note: Erratum: JAMA Neurol. 72: 481 only, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25665141/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25665141</a>] [<a href="https://doi.org/10.1001/jamaneurol.2014.4496" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25665141">Akman et al. (2015)</a> found that 3 were compound heterozygous for Y329S, caused by a c.986A-C transversion in exon 7, and a c.671T-C transition, resulting in a leu224-to-pro (L224P; <a href="#0003">607839.0003</a>) substitution. The remaining 16 heterozygous patients carried a complex deep intronic del/ins mutation in intron 15 (<a href="#0020">607839.0020</a>) that resulted in a truncated protein. Haplotype analysis suggested a founder effect for the deep intronic mutation. The mean GBE activity in compound heterozygotes was 8% of normal compared to 18% of normal in Y329S homozygotes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=25665141+23034915" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 GLYCOGEN STORAGE DISEASE IV, NONPROGRESSIVE HEPATIC</strong>
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ADULT POLYGLUCOSAN BODY NEUROPATHY, INCLUDED
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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> rs137852886 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852886;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/rs137852886?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=rs137852886" 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=rs137852886" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002909 OR RCV000056134 OR RCV000210781 OR RCV001050904 OR RCV005024995" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002909, RCV000056134, RCV000210781, RCV001050904, RCV005024995" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002909...</a>
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<p><strong><em>Glycogen Storage Disease IV</em></strong></p><p>
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For discussion of the leu224-to-pro (L224P) mutation in the GBE1 gene that was found in compound heterozygous state in an infant with the nonprogressive hepatic form of glycogen storage disease IV (GSD4; <a href="/entry/232500">232500</a>) by <a href="#5" class="mim-tip-reference" title="Bao, Y., Kishnani, P., Wu, J.-Y., Chen, Y.-T. <strong>Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.</strong> J. Clin. Invest. 97: 941-948, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8613547/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8613547</a>] [<a href="https://doi.org/10.1172/JCI118517" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8613547">Bao et al. (1996)</a>, see <a href="#0002">607839.0002</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8613547" 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><strong><em>Adult Polyglucosan Body Neuropathy</em></strong></p><p>
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In 3 patients of Ashkenazi Jewish descent with adult polyglucosan body neuropathy (APBN; <a href="/entry/263570">263570</a>), <a href="#2" class="mim-tip-reference" title="Akman, H. O., Kakhlon, O., Coku, J., Peverelli, L., Rosenmann, H., Rozenstein-Tsalkovich, L., Turnbull, J., Meiner, V., Chama, L., Lerer, I., Shpitzen, S., Leitersdorf, E., Paradas, C., Wallace, M., Schiffmann, R., DiMauro, S., Lossos, A., Minassian, B. A. <strong>Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease.</strong> JAMA Neurol. 72: 441-445, 2015. Note: Erratum: JAMA Neurol. 72: 481 only, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25665141/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25665141</a>] [<a href="https://doi.org/10.1001/jamaneurol.2014.4496" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25665141">Akman et al. (2015)</a> identified compound heterozygous mutations in the GBE1 gene: a c.671T-C transition, resulting in a leu224-to-pro (L224P) substitution, and the common Y329S mutation (<a href="#0002">607839.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25665141" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 GLYCOGEN STORAGE DISEASE IV, CLASSIC HEPATIC</strong>
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GBE1, ARG515CYS
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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> rs80338672 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80338672;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/rs80338672?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=rs80338672" 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=rs80338672" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002910 OR RCV000020161 OR RCV000210646 OR RCV001246690" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002910, RCV000020161, RCV000210646, RCV001246690" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002910...</a>
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<p>In an infant with glycogen storage disease IV (GSD4; <a href="/entry/232500">232500</a>) who presented with progressive liver cirrhosis and failure and died of liver failure before 4 years of age, <a href="#5" class="mim-tip-reference" title="Bao, Y., Kishnani, P., Wu, J.-Y., Chen, Y.-T. <strong>Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.</strong> J. Clin. Invest. 97: 941-948, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8613547/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8613547</a>] [<a href="https://doi.org/10.1172/JCI118517" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8613547">Bao et al. (1996)</a> identified a 1633C-T transition in the GBE1 gene, resulting in an arg515-to-cys substitution (R515C). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8613547" 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="0005" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0005 GLYCOGEN STORAGE DISEASE IV, CLASSIC HEPATIC</strong>
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GBE1, PHE257LEU
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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> rs137852887 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852887;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/rs137852887?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=rs137852887" 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=rs137852887" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002912 OR RCV000056143 OR RCV000433912 OR RCV001851594 OR RCV004689405 OR RCV005024996" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002912, RCV000056143, RCV000433912, RCV001851594, RCV004689405, RCV005024996" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002912...</a>
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<p>In a patient with glycogen storage disease IV (GSD4; <a href="/entry/232500">232500</a>) who presented in early infancy with progressive liver cirrhosis and failure and subsequently underwent liver transplantation, <a href="#5" class="mim-tip-reference" title="Bao, Y., Kishnani, P., Wu, J.-Y., Chen, Y.-T. <strong>Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.</strong> J. Clin. Invest. 97: 941-948, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8613547/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8613547</a>] [<a href="https://doi.org/10.1172/JCI118517" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8613547">Bao et al. (1996)</a> identified an 861T-A transversion in the GBE1 gene, resulting in a phe257-to-leu substitution (F257L). The other allele contained a C-to-T transition at nucleotide 1660 (<a href="#0006">607839.0006</a>) that altered arg524 to a stop codon (R524X). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8613547" 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="0006" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0006 GLYCOGEN STORAGE DISEASE IV, CLASSIC HEPATIC</strong>
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GLYCOGEN STORAGE DISEASE IV, CHILDHOOD NEUROMUSCULAR, INCLUDED
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GBE1, ARG524TER
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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> rs137852888 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852888;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/rs137852888?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=rs137852888" 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=rs137852888" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002913 OR RCV000002914 OR RCV000056093 OR RCV000490013 OR RCV001052971 OR RCV002490300" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002913, RCV000002914, RCV000056093, RCV000490013, RCV001052971, RCV002490300" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002913...</a>
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<p>For discussion of the 1660C-T transition in the GBE1 gene, resulting in an arg524-to-ter (R524X), that was found in compound heterozygous state in a patient with classic hepatic glycogen storage disease IV (GSD4; <a href="/entry/232500">232500</a>) by <a href="#5" class="mim-tip-reference" title="Bao, Y., Kishnani, P., Wu, J.-Y., Chen, Y.-T. <strong>Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.</strong> J. Clin. Invest. 97: 941-948, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8613547/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8613547</a>] [<a href="https://doi.org/10.1172/JCI118517" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8613547">Bao et al. (1996)</a>, see <a href="#0005">607839.0005</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8613547" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a patient with childhood neuromuscular glycogen storage disease IV, <a href="#7" class="mim-tip-reference" title="Bruno, C., van Diggelen, O. P., Cassandrini, D., Gimpelev, M., Giuffre, B., Donati, M. A., Introvini, P., Alegria, A., Assereto, S., Morandi, L., Mora, M., Tonoli, E., Mascelli, S., Traverso, M., Pasquini, E., Bado, M., Vilarinho, L., van Noort, G., Mosca, F., DiMauro, S., Zara, F., Minetti, C. <strong>Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).</strong> Neurology 63: 1053-1058, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15452297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15452297</a>] [<a href="https://doi.org/10.1212/01.wnl.0000138429.11433.0d" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15452297">Bruno et al. (2004)</a> identified compound heterozygosity for the R524X mutation and H628R (<a href="#0013">607839.0013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15452297" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<span class="mim-font">
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<strong>.0007 GLYCOGEN STORAGE DISEASE IV, COMBINED HEPATIC AND MYOPATHIC</strong>
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ADULT POLYGLUCOSAN BODY NEUROPATHY, INCLUDED
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GBE1, ARG524GLN
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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> rs80338673 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs80338673;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/rs80338673?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=rs80338673" 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=rs80338673" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002915 OR RCV000020162 OR RCV000150107 OR RCV001043400" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002915, RCV000020162, RCV000150107, RCV001043400" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002915...</a>
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<span class="mim-text-font">
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<p><strong><em>Glycogen Storage Disease IV</em></strong></p><p>
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In a 16-month-old infant with a combination of hepatic and muscular features of glycogen storage disease IV (GSD4; <a href="/entry/232500">232500</a>), <a href="#6" class="mim-tip-reference" title="Bruno, C., DiRocco, M., Lamba, L. D., Bado, M., Marino, C., Tsujino, S., Shanske, S., Stella, G., Minetti, C., van Diggelen, O. P., DiMauro, S. <strong>A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy.</strong> Neuromusc. Disord. 9: 403-407, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10545044/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10545044</a>] [<a href="https://doi.org/10.1016/s0960-8966(99)00040-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10545044">Bruno et al. (1999)</a> identified compound heterozygosity for a G-to-A transition in the GBE1 gene, resulting in an arg524-to-gln (R524Q) substitution, while the other allele was not expressed. The patient was the only child of healthy, unrelated parents. At birth he presented with severe hypotonia, flexion contractures of hips, knees, ankles, elbows, and wrists, and neck pterygium. At age 5 months, he was admitted to hospital for surgical correction of arthrogryposis. At that time, muscle hypotonia, stunted growth, hepatosplenomegaly, and liver dysfunction were noted. Laboratory investigations showed increased levels of liver enzymes, while serum creatine kinase remained normal. Electromyography showed a myopathic pattern, with pseudomyotonic discharges. The status of the patient at 22 months of age suggested that the liver dysfunction and the myopathy were static, that respiratory function was not affected, and that there was no abnormality of the heart or of mental development. In a follow-up study of the patient reported by <a href="#6" class="mim-tip-reference" title="Bruno, C., DiRocco, M., Lamba, L. D., Bado, M., Marino, C., Tsujino, S., Shanske, S., Stella, G., Minetti, C., van Diggelen, O. P., DiMauro, S. <strong>A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy.</strong> Neuromusc. Disord. 9: 403-407, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10545044/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10545044</a>] [<a href="https://doi.org/10.1016/s0960-8966(99)00040-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10545044">Bruno et al. (1999)</a>, <a href="#7" class="mim-tip-reference" title="Bruno, C., van Diggelen, O. P., Cassandrini, D., Gimpelev, M., Giuffre, B., Donati, M. A., Introvini, P., Alegria, A., Assereto, S., Morandi, L., Mora, M., Tonoli, E., Mascelli, S., Traverso, M., Pasquini, E., Bado, M., Vilarinho, L., van Noort, G., Mosca, F., DiMauro, S., Zara, F., Minetti, C. <strong>Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).</strong> Neurology 63: 1053-1058, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15452297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15452297</a>] [<a href="https://doi.org/10.1212/01.wnl.0000138429.11433.0d" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15452297">Bruno et al. (2004)</a> identified a second GBE1 mutation on the other allele (<a href="#0014">607839.0014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10545044+15452297" 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><strong><em>Adult Polyglucosan Body Neuropathy</em></strong></p><p>
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In a non-Ashkenazi patient with adult polyglucosan body neuropathy (APBN; <a href="/entry/263570">263570</a>), <a href="#19" class="mim-tip-reference" title="Ziemssen, F., Sindern, E., Schroder, J. M., Shin, Y. S., Zange, J., Kilimann, M. W., Malin, J.-P., Vorgerd, M. <strong>Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease.</strong> Ann. Neurol. 47: 536-540, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10762170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10762170</a>]" pmid="10762170">Ziemssen et al. (2000)</a> identified compound heterozygosity for the arg524-to-gln mutation and an R515H mutation (<a href="#0019">607839.0019</a>) in the GBE1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10762170" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a patient with the fatal congenital neuromuscular form of glycogen storage disease IV (GSD4; <a href="/entry/232500">232500</a>), <a href="#15" class="mim-tip-reference" title="Tay, S. K. H., Akman, H. O., Chung, W. K., Pike, M. G., Muntoni, F., Hays, A. P., Shanske, S., Valberg, S. J., Mickelson, J. R., Tanji, K., DiMauro, S. <strong>Fatal infantile neuromuscular presentation of glycogen storage disease type IV.</strong> Neuromusc. Disord. 14: 253-260, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15019703/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15019703</a>] [<a href="https://doi.org/10.1016/j.nmd.2003.12.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15019703">Tay et al. (2004)</a> identified a homozygous 627-bp deletion in the GBE1 gene, resulting in the deletion of exons 8-12. Residual branching enzyme activity was 0.8% of normal. The parents were related and had a previous intrauterine death associated with decreased fetal movements and polyhydramnios. The patient died at 5.5 weeks of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15019703" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0009 GLYCOGEN STORAGE DISEASE IV, FATAL PERINATAL NEUROMUSCULAR</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs397515343 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397515343;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=rs397515343" 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=rs397515343" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In the patient with fatal perinatal glycogen storage disease IV (GSD4; <a href="/entry/232500">232500</a>) reported by <a href="#3" class="mim-tip-reference" title="Alegria, A., Martins, E., Dias, M., Cunha, A., Cardoso, M. L., Maire, I. <strong>Glycogen storage disease type IV presenting as hydrops fetalis.</strong> J. Inherit. Metab. Dis. 22: 330-332, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10384399/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10384399</a>] [<a href="https://doi.org/10.1023/a:1005568507267" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10384399">Alegria et al. (1999)</a>, <a href="#7" class="mim-tip-reference" title="Bruno, C., van Diggelen, O. P., Cassandrini, D., Gimpelev, M., Giuffre, B., Donati, M. A., Introvini, P., Alegria, A., Assereto, S., Morandi, L., Mora, M., Tonoli, E., Mascelli, S., Traverso, M., Pasquini, E., Bado, M., Vilarinho, L., van Noort, G., Mosca, F., DiMauro, S., Zara, F., Minetti, C. <strong>Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).</strong> Neurology 63: 1053-1058, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15452297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15452297</a>] [<a href="https://doi.org/10.1212/01.wnl.0000138429.11433.0d" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15452297">Bruno et al. (2004)</a> identified a homozygous G-to-A transition at the donor splice site of intron 1 of the GBE1 gene, resulting in a 274-bp insertion, a premature stop codon, and truncation of the last 654 amino acids, or greater than 90% of the protein. Both unaffected parents were heterozygous for the mutation. The patient died at 4 days of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10384399+15452297" 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">rs137852889 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852889;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=rs137852889" 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=rs137852889" 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 Syrian sibs, born of consanguineous parents, with fatal perinatal glycogen storage disease IV (GSD4; <a href="/entry/232500">232500</a>) reported by <a href="#17" class="mim-tip-reference" title="van Noort, G., Straks, W., Van Diggelen, O. P., Hennekam, R. C. M. <strong>A congenital variant of glycogenosis type IV.</strong> Pediat. Path. 13: 685-698, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8247964/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8247964</a>] [<a href="https://doi.org/10.3109/15513819309048254" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8247964">van Noort et al. (1993)</a>, <a href="#7" class="mim-tip-reference" title="Bruno, C., van Diggelen, O. P., Cassandrini, D., Gimpelev, M., Giuffre, B., Donati, M. A., Introvini, P., Alegria, A., Assereto, S., Morandi, L., Mora, M., Tonoli, E., Mascelli, S., Traverso, M., Pasquini, E., Bado, M., Vilarinho, L., van Noort, G., Mosca, F., DiMauro, S., Zara, F., Minetti, C. <strong>Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).</strong> Neurology 63: 1053-1058, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15452297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15452297</a>] [<a href="https://doi.org/10.1212/01.wnl.0000138429.11433.0d" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15452297">Bruno et al. (2004)</a> identified a homozygous 1634A-G transition in exon 13 of the GBE1 gene, resulting in a his545-to-arg (H545R) substitution. In a structural model based on the E. coli protein, the H545R mutation was predicted to alter the structure of the protein significantly. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15452297+8247964" 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 2 sibs with congenital neuromuscular glycogen storage disease IV (GSD4; <a href="/entry/232500">232500</a>), <a href="#7" class="mim-tip-reference" title="Bruno, C., van Diggelen, O. P., Cassandrini, D., Gimpelev, M., Giuffre, B., Donati, M. A., Introvini, P., Alegria, A., Assereto, S., Morandi, L., Mora, M., Tonoli, E., Mascelli, S., Traverso, M., Pasquini, E., Bado, M., Vilarinho, L., van Noort, G., Mosca, F., DiMauro, S., Zara, F., Minetti, C. <strong>Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).</strong> Neurology 63: 1053-1058, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15452297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15452297</a>] [<a href="https://doi.org/10.1212/01.wnl.0000138429.11433.0d" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15452297">Bruno et al. (2004)</a> identified compound heterozygosity for 2 mutations in the GBE1 gene: a G-to-T transversion in exon 13, resulting in a glu592-to-ter (E592X) substitution and a 253-bp deletion between exon 3 and exon 7 (<a href="#0012">607839.0012</a>). Residual GBE1 activity in fibroblasts was less than 5%. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15452297" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0012 GLYCOGEN STORAGE DISEASE IV, CONGENITAL NEUROMUSCULAR</strong>
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GBE1, 253-BP DEL
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002921" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002921" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002921</a>
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<p>For discussion of the 253-bp deletion in the GBE1 gene that was found in compound heterozygous state in 2 sibs with congenital neuromuscular glycogen storage disease IV by <a href="#7" class="mim-tip-reference" title="Bruno, C., van Diggelen, O. P., Cassandrini, D., Gimpelev, M., Giuffre, B., Donati, M. A., Introvini, P., Alegria, A., Assereto, S., Morandi, L., Mora, M., Tonoli, E., Mascelli, S., Traverso, M., Pasquini, E., Bado, M., Vilarinho, L., van Noort, G., Mosca, F., DiMauro, S., Zara, F., Minetti, C. <strong>Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).</strong> Neurology 63: 1053-1058, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15452297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15452297</a>] [<a href="https://doi.org/10.1212/01.wnl.0000138429.11433.0d" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15452297">Bruno et al. (2004)</a>, see <a href="#0011">607839.0011</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15452297" 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="0013" class="mim-anchor"></a>
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<strong>.0013 GLYCOGEN STORAGE DISEASE IV, CHILDHOOD NEUROMUSCULAR</strong>
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GBE1, HIS628ARG
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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> rs137852891 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852891;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/rs137852891?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=rs137852891" 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=rs137852891" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002922 OR RCV000056098 OR RCV001092351 OR RCV001851596 OR RCV005024997" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002922, RCV000056098, RCV001092351, RCV001851596, RCV005024997" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002922...</a>
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<p>In a patient with childhood neuromuscular glycogen storage disease IV (GSD4; <a href="/entry/232500">232500</a>), <a href="#7" class="mim-tip-reference" title="Bruno, C., van Diggelen, O. P., Cassandrini, D., Gimpelev, M., Giuffre, B., Donati, M. A., Introvini, P., Alegria, A., Assereto, S., Morandi, L., Mora, M., Tonoli, E., Mascelli, S., Traverso, M., Pasquini, E., Bado, M., Vilarinho, L., van Noort, G., Mosca, F., DiMauro, S., Zara, F., Minetti, C. <strong>Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).</strong> Neurology 63: 1053-1058, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15452297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15452297</a>] [<a href="https://doi.org/10.1212/01.wnl.0000138429.11433.0d" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15452297">Bruno et al. (2004)</a> identified compound heterozygosity for 2 mutations in the GBE1 gene: an A-to-G transition in exon 14, resulting in a his628-to-arg (H628R) substitution and R524X (<a href="#0006">607839.0006</a>). Residual GBE1 activity in fibroblasts was 15 to 25%. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15452297" 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="0014" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0014 GLYCOGEN STORAGE DISEASE IV, COMBINED HEPATIC AND MYOPATHIC</strong>
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</h4>
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GBE1, 1-BP INS, 38A
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1575782181 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1575782181;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=rs1575782181" 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=rs1575782181" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002923" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002923" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002923</a>
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<p>In an infant with a combination of hepatic and muscular features of glycogen storage disease IV (GSD4; <a href="/entry/232500">232500</a>) reported by <a href="#6" class="mim-tip-reference" title="Bruno, C., DiRocco, M., Lamba, L. D., Bado, M., Marino, C., Tsujino, S., Shanske, S., Stella, G., Minetti, C., van Diggelen, O. P., DiMauro, S. <strong>A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy.</strong> Neuromusc. Disord. 9: 403-407, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10545044/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10545044</a>] [<a href="https://doi.org/10.1016/s0960-8966(99)00040-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10545044">Bruno et al. (1999)</a>, <a href="#7" class="mim-tip-reference" title="Bruno, C., van Diggelen, O. P., Cassandrini, D., Gimpelev, M., Giuffre, B., Donati, M. A., Introvini, P., Alegria, A., Assereto, S., Morandi, L., Mora, M., Tonoli, E., Mascelli, S., Traverso, M., Pasquini, E., Bado, M., Vilarinho, L., van Noort, G., Mosca, F., DiMauro, S., Zara, F., Minetti, C. <strong>Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).</strong> Neurology 63: 1053-1058, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15452297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15452297</a>] [<a href="https://doi.org/10.1212/01.wnl.0000138429.11433.0d" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15452297">Bruno et al. (2004)</a> identified compound heterozygosity for 2 mutations in the GBE1 gene: a 1-bp insertion at codon 13 in exon 1 and an R524Q substitution (<a href="#0007">607839.0007</a>). Residual GBE1 activity in fibroblasts was 5 to 10%. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10545044+15452297" 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="0015" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0015 GLYCOGEN STORAGE DISEASE IV, CONGENITAL NEUROMUSCULAR</strong>
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</h4>
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GBE1, GLN236HIS
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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> rs137852892 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852892;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/rs137852892?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=rs137852892" 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=rs137852892" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002924 OR RCV001580444 OR RCV001851597 OR RCV002254901 OR RCV004532277 OR RCV005024998" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002924, RCV001580444, RCV001851597, RCV002254901, RCV004532277, RCV005024998" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002924...</a>
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<p>In a 30-month-old girl with stable congenital neuromuscular glycogen storage disease IV (GSD4; <a href="/entry/232500">232500</a>), <a href="#8" class="mim-tip-reference" title="Burrow, T. A., Hopkin, R. J., Bove, K. E., Miles, L., Wong, B. L., Choudhary, A., Bali, D., Li, S. C., Chen, Y.-T. <strong>Non-lethal congenital hypotonia due to glycogen storage disease type IV.</strong> Am. J. Med. Genet. 140A: 878-882, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16528737/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16528737</a>] [<a href="https://doi.org/10.1002/ajmg.a.31166" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16528737">Burrow et al. (2006)</a> identified compound heterozygosity for a 708G-C transversion and a 784C-T transition in the GBE1 gene, resulting in a gln236-to-his (Q236H) and an arg262-to-cys (R262C; <a href="#0016">607839.0016</a>) substitution, respectively. Each parent was a carrier of 1 of the mutations. The authors stated that the patient was unique among patients with GSD IV, in that she had a stable myopathy and exhibited no cardiac or hepatic pathology at age 2.5 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16528737" 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="0016" class="mim-anchor"></a>
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<strong>.0016 GLYCOGEN STORAGE DISEASE IV, CONGENITAL NEUROMUSCULAR</strong>
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GBE1, ARG262CYS
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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> rs137852893 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852893;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/rs137852893?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=rs137852893" 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=rs137852893" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002925 OR RCV000501317 OR RCV001826408 OR RCV002512687" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002925, RCV000501317, RCV001826408, RCV002512687" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002925...</a>
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<p>For discussion of the 784C-T transition in the GBE1 gene, resulting in an arg262-to-cys (R262C) substitution, that was identified in compound heterozygous state in a patient with glycogen storage disease IV (GSD4; <a href="/entry/232500">232500</a>) by <a href="#8" class="mim-tip-reference" title="Burrow, T. A., Hopkin, R. J., Bove, K. E., Miles, L., Wong, B. L., Choudhary, A., Bali, D., Li, S. C., Chen, Y.-T. <strong>Non-lethal congenital hypotonia due to glycogen storage disease type IV.</strong> Am. J. Med. Genet. 140A: 878-882, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16528737/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16528737</a>] [<a href="https://doi.org/10.1002/ajmg.a.31166" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16528737">Burrow et al. (2006)</a>, see <a href="#0015">607839.0015</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16528737" 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="0017" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0017 GLYCOGEN STORAGE DISEASE IV, CONGENITAL NEUROMUSCULAR</strong>
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GBE1, IVS5DS, G-C, +5
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs397515344 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397515344;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=rs397515344" 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=rs397515344" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002926 OR RCV000056135 OR RCV002512688" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002926, RCV000056135, RCV002512688" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002926...</a>
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<p>In a female infant with congenital neuromuscular glycogen storage disease IV (GSD4; <a href="/entry/232500">232500</a>), <a href="#4" class="mim-tip-reference" title="Assereto, S., van Diggelen, O. P., Diogo, L., Morava, E., Cassandrini, D., Carreira, I., de Boode, W.-P., Dilling, J., Garcia, P., Henriques, M., Rebelo, O., ter Laak, H., Minetti, C., Bruno, C. <strong>Null mutations and lethal congenital forms of glycogen storage disease type IV.</strong> Biochem. Biophys. Res. Commun. 361: 445-450, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17662246/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17662246</a>] [<a href="https://doi.org/10.1016/j.bbrc.2007.07.074" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17662246">Assereto et al. (2007)</a> identified a homozygous G-to-C transversion in intron 5 of the GBE1 gene (IVS5+5G-C), resulting in 2 abnormal mRNA transcripts lacking exon 5 and exons 5 and 6, respectively, that both led to a frameshift and premature termination. The pregnancy was complicated by polyhydramnios and reduced fetal movements, and she was born with severe hypotonia and flexion contractures. She died at age 4 weeks of cardiorespiratory failure. Each parent was heterozygous for the mutation. <a href="#4" class="mim-tip-reference" title="Assereto, S., van Diggelen, O. P., Diogo, L., Morava, E., Cassandrini, D., Carreira, I., de Boode, W.-P., Dilling, J., Garcia, P., Henriques, M., Rebelo, O., ter Laak, H., Minetti, C., Bruno, C. <strong>Null mutations and lethal congenital forms of glycogen storage disease type IV.</strong> Biochem. Biophys. Res. Commun. 361: 445-450, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17662246/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17662246</a>] [<a href="https://doi.org/10.1016/j.bbrc.2007.07.074" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17662246">Assereto et al. (2007)</a> emphasized that null mutations in the GBE1 gene are associated with a severe, often lethal, phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17662246" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0018 GLYCOGEN STORAGE DISEASE IV, CONGENITAL NEUROMUSCULAR</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs137852894 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852894;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/rs137852894?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=rs137852894" 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=rs137852894" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000002927 OR RCV000056096" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000002927, RCV000056096" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000002927...</a>
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<p>In a female infant with congenital neuromuscular glycogen storage disease IV (GSD4; <a href="/entry/232500">232500</a>), <a href="#4" class="mim-tip-reference" title="Assereto, S., van Diggelen, O. P., Diogo, L., Morava, E., Cassandrini, D., Carreira, I., de Boode, W.-P., Dilling, J., Garcia, P., Henriques, M., Rebelo, O., ter Laak, H., Minetti, C., Bruno, C. <strong>Null mutations and lethal congenital forms of glycogen storage disease type IV.</strong> Biochem. Biophys. Res. Commun. 361: 445-450, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17662246/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17662246</a>] [<a href="https://doi.org/10.1016/j.bbrc.2007.07.074" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17662246">Assereto et al. (2007)</a> identified a homozygous 1643G-A transition in exon 13 of the GBE1 gene, resulting in a trp548-to-ter (W548X) substitution. The pregnancy was complicated by polyhydramnios and reduced fetal movements. She was born with severe hypotonia and died at age 12 weeks of cardiorespiratory failure. Each parent was heterozygous for the mutation. <a href="#4" class="mim-tip-reference" title="Assereto, S., van Diggelen, O. P., Diogo, L., Morava, E., Cassandrini, D., Carreira, I., de Boode, W.-P., Dilling, J., Garcia, P., Henriques, M., Rebelo, O., ter Laak, H., Minetti, C., Bruno, C. <strong>Null mutations and lethal congenital forms of glycogen storage disease type IV.</strong> Biochem. Biophys. Res. Commun. 361: 445-450, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17662246/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17662246</a>] [<a href="https://doi.org/10.1016/j.bbrc.2007.07.074" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17662246">Assereto et al. (2007)</a> emphasized that null mutations in the GBE1 gene are associated with a severe, often lethal, phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17662246" 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> rs201958741 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs201958741;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/rs201958741?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=rs201958741" 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=rs201958741" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000157612 OR RCV000519980 OR RCV000692455 OR RCV001275349 OR RCV001826858 OR RCV002252009 OR RCV004535028" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000157612, RCV000519980, RCV000692455, RCV001275349, RCV001826858, RCV002252009, RCV004535028" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000157612...</a>
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<p>In a non-Ashkenazi patient with adult polyglucosan body neuropathy (APBN; <a href="/entry/263570">263570</a>), <a href="#19" class="mim-tip-reference" title="Ziemssen, F., Sindern, E., Schroder, J. M., Shin, Y. S., Zange, J., Kilimann, M. W., Malin, J.-P., Vorgerd, M. <strong>Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease.</strong> Ann. Neurol. 47: 536-540, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10762170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10762170</a>]" pmid="10762170">Ziemssen et al. (2000)</a> identified compound heterozygosity for an arg524-to-gln mutation (<a href="#0007">607839.0007</a>) and an arg515-to-his (R515H) substitution in the GBE1 gene. The patient presented at age 46 years with gait disturbance, urinary urge incontinence, and hearing loss. She also had spastic tetraparesis, extensor plantar responses, and impaired sensation in the legs. Sural nerve biopsy showed polyglucosan bodies, and leukocyte GBE1 activity was 20% of normal. Each of her 2 clinically unaffected daughters carried one of the mutations and showed intermediate levels of GBE1 activity (80% of normal). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10762170" 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> rs869320698 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs869320698;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/rs869320698?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=rs869320698" 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=rs869320698" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000210799 OR RCV001526450 OR RCV001775673" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000210799, RCV001526450, RCV001775673" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000210799...</a>
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<p>In 13 patients of Ashkenazi Jewish descent with adult polyglucosan body neuropathy (APBN; <a href="/entry/263570">263570</a>), <a href="#2" class="mim-tip-reference" title="Akman, H. O., Kakhlon, O., Coku, J., Peverelli, L., Rosenmann, H., Rozenstein-Tsalkovich, L., Turnbull, J., Meiner, V., Chama, L., Lerer, I., Shpitzen, S., Leitersdorf, E., Paradas, C., Wallace, M., Schiffmann, R., DiMauro, S., Lossos, A., Minassian, B. A. <strong>Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease.</strong> JAMA Neurol. 72: 441-445, 2015. Note: Erratum: JAMA Neurol. 72: 481 only, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25665141/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25665141</a>] [<a href="https://doi.org/10.1001/jamaneurol.2014.4496" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25665141">Akman et al. (2015)</a> identified compound heterozygous mutations in the GBE1 gene: in addition to the common founder Y329S mutation (<a href="#0002">607839.0002</a>), all patients carried a complex deep intronic ins/del mutation in intron 15 (IVS15, +5289_5297del9ins20), resulting in an unstable truncated protein. PCR analysis showed that the abnormal sequence resulted in the splicing of exon 15 into an ectopic splice acceptor site, creating an abnormal exon 16 with a new stop codon. Haplotype analysis was consistent with a founder effect for the deep intronic mutation. The mean GBE activity in compound heterozygotes was 8% of normal compared to 18% of normal in Y329S homozygotes, but there was no obvious difference in phenotype. There were no homozygotes for the deep intronic mutation, suggesting that homozygosity for the mutation may be prenatal lethal. <a href="#2" class="mim-tip-reference" title="Akman, H. O., Kakhlon, O., Coku, J., Peverelli, L., Rosenmann, H., Rozenstein-Tsalkovich, L., Turnbull, J., Meiner, V., Chama, L., Lerer, I., Shpitzen, S., Leitersdorf, E., Paradas, C., Wallace, M., Schiffmann, R., DiMauro, S., Lossos, A., Minassian, B. A. <strong>Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease.</strong> JAMA Neurol. 72: 441-445, 2015. Note: Erratum: JAMA Neurol. 72: 481 only, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25665141/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25665141</a>] [<a href="https://doi.org/10.1001/jamaneurol.2014.4496" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25665141">Akman et al. (2015)</a> noted that the mutation was missed by whole-genome sequencing, emphasizing potential pitfalls in genetic diagnostics using this method. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25665141" 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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Akman, H. O., Emmanuele, V., Kurt, Y. G., Kurt, B., Sheiko, T., DiMauro, S., Craigen, W. J.
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<strong>A novel mouse model that recapitulates adult-onset glycogenosis type 4.</strong>
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Hum. Molec. Genet. 24: 6801-6810, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26385640/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26385640</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26385640[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=26385640" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddv385" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI118517" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15366377/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15366377</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15366377" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s00335-004-2369-1" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="19" class="mim-anchor"></a>
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<a id="Ziemssen2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ziemssen, F., Sindern, E., Schroder, J. M., Shin, Y. S., Zange, J., Kilimann, M. W., Malin, J.-P., Vorgerd, M.
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<strong>Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease.</strong>
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Ann. Neurol. 47: 536-540, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10762170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10762170</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10762170" 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="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 04/25/2023
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 5/2/2016<br>Cassandra L. Kniffin - updated : 4/7/2016<br>Cassandra L. Kniffin - updated : 9/14/2007<br>Ada Hamosh - updated : 6/14/2007<br>Marla J. F. O'Neill - updated : 8/11/2006<br>Victor A. McKusick - updated : 8/23/2004<br>Cassandra L. Kniffin - updated : 7/11/2003
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin : 5/30/2003
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 04/25/2023
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<span class="mim-text-font">
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carol : 05/12/2022<br>carol : 05/11/2022<br>carol : 05/10/2022<br>carol : 04/26/2017<br>alopez : 08/12/2016<br>carol : 05/02/2016<br>ckniffin : 5/2/2016<br>carol : 4/12/2016<br>carol : 4/11/2016<br>ckniffin : 4/7/2016<br>carol : 2/6/2015<br>carol : 1/26/2015<br>carol : 5/8/2014<br>mcolton : 4/28/2014<br>carol : 9/19/2013<br>carol : 9/6/2013<br>terry : 12/21/2012<br>carol : 8/19/2010<br>wwang : 9/24/2007<br>ckniffin : 9/14/2007<br>alopez : 6/22/2007<br>terry : 6/14/2007<br>wwang : 8/17/2006<br>terry : 8/11/2006<br>terry : 12/20/2005<br>terry : 9/27/2005<br>carol : 3/31/2005<br>ckniffin : 2/17/2005<br>tkritzer : 8/31/2004<br>terry : 8/23/2004<br>carol : 7/14/2003<br>ckniffin : 7/11/2003<br>carol : 6/10/2003<br>ckniffin : 6/10/2003<br>carol : 6/10/2003<br>ckniffin : 5/30/2003
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<span class="mim-font">
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<strong>*</strong> 607839
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GLYCOGEN BRANCHING ENZYME; GBE1
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<span class="mim-font">
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GBE<br />
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1,4-ALPHA-GLUCAN BRANCHING ENZYME<br />
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AMYLO-(1,4 to 1,6) TRANSGLUCOSIDASE<br />
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AMYLO-(1,4 to 1,6) TRANSGLYCOSYLASE
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: GBE1</em></strong>
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<strong>
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<em>
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Cytogenetic location: 3p12.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 3:81,489,703-81,761,645 </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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<strong>Gene-Phenotype Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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<th>
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Phenotype <br /> mapping key
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<td rowspan="2">
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<span class="mim-font">
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3p12.2
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<span class="mim-font">
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Glycogen storage disease IV
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<span class="mim-font">
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232500
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<span class="mim-font">
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Autosomal recessive
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<span class="mim-font">
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3
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<span class="mim-font">
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Polyglucosan body disease, adult form
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<span class="mim-font">
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263570
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<span class="mim-font">
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Autosomal recessive
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<td>
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<span class="mim-font">
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3
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</div>
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<span class="mim-text-font">
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<p>The GBE1 gene encodes the glycogen branching enzyme (EC 2.4.1.18), which is involved in glycogen synthesis that catalyzes the transfer of alpha-1,4-linked glucosyl units from the outer end of a glycogen chain to an alpha-1,6 position on the same or a neighboring glycogen chain. Branching of the chains is essential to pack a very large number of glycosyl units into a relatively soluble spherical molecule.</p>
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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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<span class="mim-text-font">
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<p>Thon et al. (1993) used functional complementation of the Saccharomyces cerevisiae glycogen branching enzyme deficiency to isolate human cDNAs that encode the glycogen branching enzyme. The human and yeast glycogen branching enzymes were found to have 67% identical amino acid sequence over a major portion of their length. The full length of the cDNA was approximately 3 kb. The coding sequence contained 2,106 bp encoding a 702-amino acid protein. The calculated molecular mass of the GBE1 protein, derived from its cDNA sequence, was 80,438 Da. </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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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By Southern blot analysis of DNA derived from human/rodent somatic cell hybrids, Thon et al. (1993) mapped the GBE1 gene to chromosome 3. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Glycogen Storage Disease IV</em></strong></p><p>
|
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In 2 patients with the classic hepatic presentation of glycogen storage disease IV (GSD4; 232500), Bao et al. (1996) found 2 missense mutations (607839.0004, 607839.0005) and 1 nonsense mutation (607839.0006) in the GBE1 gene. Transient expression experiments showed that these mutations inactivated glycogen branching enzyme activity. In a different patient with the nonprogressive hepatic form of GSD IV, Bao et al. (1996) identified compound heterozygosity for 2 mutations in the GBE1 gene; one of these resulted in complete loss of GBE1 activity (607839.0003), whereas the other resulted in loss of approximately 50% of GBE1 activity (607839.0002). In a patient with the fatal neonatal neuromuscular form of GSD IV, they found a 210-bp deletion in the GBE1 cDNA (607839.0001). The findings indicated that all 3 forms of GSD IV are caused by mutations in the same gene, and that significant retention of GBE1 activity may underlie milder forms of the disease. </p><p>Burrow et al. (2006) reported a 30-month-old girl with GSD IV who had stable congenital hypotonia, gross motor delay, and severe fibrofatty replacement of the musculature, but no hepatic or cardiac involvement. Molecular analysis identified compound heterozygosity for 2 missense mutations in the GBE1 gene (607839.0015 and 607839.0016). </p><p><strong><em>Adult Polyglucosan Body Neuropathy</em></strong></p><p>
|
|
In 7 Jewish patients with adult polyglucosan body neuropathy (APBN; 263570), Lossos et al. (1998) identified homozygosity for a missense mutation in the GBE1 gene (Y329S; 607839.0002). Related family members who were heterozygous for the mutation had only a partial biochemical defect, thereby demonstrating dosage effect of the mutant allele consistent with simple autosomal recessive transmission. The authors noted that the same mutation had been identified in heterozygous state in a 20-year-old person with normal liver function, and in compound heterozygous state in a nonprogressive form of GSD IV. They concluded that APBN represents an allelic variant of GSD IV. </p><p>In a non-Ashkenazi patient with APBN, Ziemssen et al. (2000) identified compound heterozygous mutations in the GBE1 gene: an R515H mutation (607839.0019) and an R524Q mutation (607839.0007); the latter mutation had previously been identified in a patient with GSD IV by Bruno et al. (1999). The findings confirmed that APBN and GSD IV are allelic disorders. </p><p><strong><em>Reviews</em></strong></p><p>
|
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In a review and consensus paper focused on GSD IV and APBD, Koch et al. (2023) noted that a variety of GBE1 variants and large gene deletions had been shown to cause reduced GBE enzyme activity, with 128 pathogenic or likely pathogenic variants identified. Exon 12 appeared to be a mutation hotspot. GBE1 sequencing detected about 74% of the pathogenic and likely pathogenic mutations; when combined with deletion duplication analysis, this detection rate increased to about 85%. </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>Animal Model</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>Fyfe et al. (1997) showed that a fatal form of GSD IV in Norwegian Forest cats, in which striated muscles and the nervous system are primarily affected, is caused by a 6.1-kb deletion that eliminates exon 12 of the feline GBE1 gene. Ward et al. (2004) showed that a fatal neonatal disorder closely resembling GSD IV in the American Quarter horse is caused by a 102C-A transversion in exon 1 of the GBE1 gene, resulting in a tyr34-to-ter (Y34X) substitution. </p><p>Fyfe et al. (2007) further characterized the GBE1 mutation in Norwegian forest cats and found that affected cats are homozygous for a complex rearrangement of genomic DNA in GBE1, constituted by a 334-bp insertion at the site of 6.2-kb deletion that extends from intron 11 to intron 12 (IVS11+1552_IVS12-1339 del6.2kb ins334bp), removing exon 12. Screening of 402 privately owned Norwegian forest cats revealed 58 carriers and 4 affected cats. Not all of these died in the neonatal period, suggesting a viable animal model for the studies of pathophysiology and development of novel therapeutic agents. </p><p>Akman et al. (2015) found that transgenic mice homozygous for the GBE1 Y329S hypomorphic allele (607839.0002) developed muscle weakness, late-onset spastic paraplegia affecting the hindlimbs, and premature death. Pathologic examination showed progressive glycogen and polyglucosan body accumulation in various organs. The phenotype was reminiscent of APBD in humans. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>ALLELIC VARIANTS</strong>
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</span>
|
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<strong>20 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 GLYCOGEN STORAGE DISEASE IV, CONGENITAL NEUROMUSCULAR</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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GBE1, IVSAS, G-A, -1
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<br />
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SNP: rs397515342,
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ClinVar: RCV000002906, RCV003764518
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient with neonatal hypotonia and cardiomyopathy secondary to glycogen storage disease IV (GSD4; 232500) reported by Tang et al. (1994), Bao et al. (1996) found a 210-bp deletion from nucleotide 873 to 1082 of the GBE1 cDNA. This deletion resulted in a loss of 70 amino acids from the GBE polypeptide (262-331). This deletion, representing the loss of an exon, was caused by an AG-to-AA mutation at a 3-prime acceptor splice site, and abolished GBE1 activity. </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>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 GLYCOGEN STORAGE DISEASE IV, NONPROGRESSIVE HEPATIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
ADULT POLYGLUCOSAN BODY NEUROPATHY, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GBE1, TYR329SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs80338671,
|
|
|
|
|
|
gnomAD: rs80338671,
|
|
|
|
|
|
ClinVar: RCV000002907, RCV000020163, RCV000150105, RCV000304728, RCV000493505, RCV000555363, RCV000763520, RCV000991160
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p />
|
|
<p><strong><em>Glycogen Storage Disease IV</em></strong></p><p>
|
|
In a Jewish female infant with the nonprogressive hepatic form of glycogen storage disease IV (GSD4; 232500), Bao et al. (1996) found 2 missense mutations on separate alleles of the GBE1 gene: leu224-to-pro (L224P; 607839.0003) and tyr329-to-ser (Y329S). The L224P mutation resulted in complete loss of GBE1 activity, whereas the Y329S mutation resulted in loss of approximately 50% of GBE1 activity. Bao et al. (1996) detected the Y329S allele in another patient with the nonprogressive form of GSD IV but not in 35 unrelated controls or in patients with the more severe forms of GSD IV. The Y329S substitution resulted from an A-to-C transversion at nucleotide 1076. The second patient with the Y329S allele was 20 years old at the time of report and had normal liver function. </p><p><strong><em>Adult Polyglucosan Body Neuropathy</em></strong></p><p>
|
|
In 7 Jewish patients with adult polyglucosan body neuropathy (APBN; 263570), Lossos et al. (1998) identified homozygosity for the Y329S mutation. The authors concluded that despite the very different phenotypes of APBN and GSD IV, they are allelic disorders. </p><p>Mochel et al. (2012) identified the Y329S mutation in 35 (76%) of 50 patients with APBN, all of whom were of Ashkenazi Jewish origin. Thirteen of the patients carried the Y329S mutation in heterozygous state, but the gene was not exhaustively studied for other possible variants. Akman et al. (2015) performed follow-up of some of the heterozygous patients reported by Mochel et al. (2012). In a cohort of 16 patients of Ashkenazi Jewish descent who were initially found to be heterozygous for the Y329S mutation, Akman et al. (2015) found that 3 were compound heterozygous for Y329S, caused by a c.986A-C transversion in exon 7, and a c.671T-C transition, resulting in a leu224-to-pro (L224P; 607839.0003) substitution. The remaining 16 heterozygous patients carried a complex deep intronic del/ins mutation in intron 15 (607839.0020) that resulted in a truncated protein. Haplotype analysis suggested a founder effect for the deep intronic mutation. The mean GBE activity in compound heterozygotes was 8% of normal compared to 18% of normal in Y329S homozygotes. </p>
|
|
</span>
|
|
</div>
|
|
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|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 GLYCOGEN STORAGE DISEASE IV, NONPROGRESSIVE HEPATIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
ADULT POLYGLUCOSAN BODY NEUROPATHY, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GBE1, LEU224PRO
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|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852886,
|
|
|
|
|
|
gnomAD: rs137852886,
|
|
|
|
|
|
ClinVar: RCV000002909, RCV000056134, RCV000210781, RCV001050904, RCV005024995
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p />
|
|
<p><strong><em>Glycogen Storage Disease IV</em></strong></p><p>
|
|
For discussion of the leu224-to-pro (L224P) mutation in the GBE1 gene that was found in compound heterozygous state in an infant with the nonprogressive hepatic form of glycogen storage disease IV (GSD4; 232500) by Bao et al. (1996), see 607839.0002. </p><p><strong><em>Adult Polyglucosan Body Neuropathy</em></strong></p><p>
|
|
In 3 patients of Ashkenazi Jewish descent with adult polyglucosan body neuropathy (APBN; 263570), Akman et al. (2015) identified compound heterozygous mutations in the GBE1 gene: a c.671T-C transition, resulting in a leu224-to-pro (L224P) substitution, and the common Y329S mutation (607839.0002). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 GLYCOGEN STORAGE DISEASE IV, CLASSIC HEPATIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GBE1, ARG515CYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs80338672,
|
|
|
|
|
|
gnomAD: rs80338672,
|
|
|
|
|
|
ClinVar: RCV000002910, RCV000020161, RCV000210646, RCV001246690
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an infant with glycogen storage disease IV (GSD4; 232500) who presented with progressive liver cirrhosis and failure and died of liver failure before 4 years of age, Bao et al. (1996) identified a 1633C-T transition in the GBE1 gene, resulting in an arg515-to-cys substitution (R515C). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 GLYCOGEN STORAGE DISEASE IV, CLASSIC HEPATIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GBE1, PHE257LEU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852887,
|
|
|
|
|
|
gnomAD: rs137852887,
|
|
|
|
|
|
ClinVar: RCV000002912, RCV000056143, RCV000433912, RCV001851594, RCV004689405, RCV005024996
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with glycogen storage disease IV (GSD4; 232500) who presented in early infancy with progressive liver cirrhosis and failure and subsequently underwent liver transplantation, Bao et al. (1996) identified an 861T-A transversion in the GBE1 gene, resulting in a phe257-to-leu substitution (F257L). The other allele contained a C-to-T transition at nucleotide 1660 (607839.0006) that altered arg524 to a stop codon (R524X). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 GLYCOGEN STORAGE DISEASE IV, CLASSIC HEPATIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
GLYCOGEN STORAGE DISEASE IV, CHILDHOOD NEUROMUSCULAR, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GBE1, ARG524TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852888,
|
|
|
|
|
|
gnomAD: rs137852888,
|
|
|
|
|
|
ClinVar: RCV000002913, RCV000002914, RCV000056093, RCV000490013, RCV001052971, RCV002490300
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 1660C-T transition in the GBE1 gene, resulting in an arg524-to-ter (R524X), that was found in compound heterozygous state in a patient with classic hepatic glycogen storage disease IV (GSD4; 232500) by Bao et al. (1996), see 607839.0005. </p><p>In a patient with childhood neuromuscular glycogen storage disease IV, Bruno et al. (2004) identified compound heterozygosity for the R524X mutation and H628R (607839.0013). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 GLYCOGEN STORAGE DISEASE IV, COMBINED HEPATIC AND MYOPATHIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
ADULT POLYGLUCOSAN BODY NEUROPATHY, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GBE1, ARG524GLN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs80338673,
|
|
|
|
|
|
gnomAD: rs80338673,
|
|
|
|
|
|
ClinVar: RCV000002915, RCV000020162, RCV000150107, RCV001043400
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p />
|
|
<p><strong><em>Glycogen Storage Disease IV</em></strong></p><p>
|
|
In a 16-month-old infant with a combination of hepatic and muscular features of glycogen storage disease IV (GSD4; 232500), Bruno et al. (1999) identified compound heterozygosity for a G-to-A transition in the GBE1 gene, resulting in an arg524-to-gln (R524Q) substitution, while the other allele was not expressed. The patient was the only child of healthy, unrelated parents. At birth he presented with severe hypotonia, flexion contractures of hips, knees, ankles, elbows, and wrists, and neck pterygium. At age 5 months, he was admitted to hospital for surgical correction of arthrogryposis. At that time, muscle hypotonia, stunted growth, hepatosplenomegaly, and liver dysfunction were noted. Laboratory investigations showed increased levels of liver enzymes, while serum creatine kinase remained normal. Electromyography showed a myopathic pattern, with pseudomyotonic discharges. The status of the patient at 22 months of age suggested that the liver dysfunction and the myopathy were static, that respiratory function was not affected, and that there was no abnormality of the heart or of mental development. In a follow-up study of the patient reported by Bruno et al. (1999), Bruno et al. (2004) identified a second GBE1 mutation on the other allele (607839.0014). </p><p><strong><em>Adult Polyglucosan Body Neuropathy</em></strong></p><p>
|
|
In a non-Ashkenazi patient with adult polyglucosan body neuropathy (APBN; 263570), Ziemssen et al. (2000) identified compound heterozygosity for the arg524-to-gln mutation and an R515H mutation (607839.0019) in the GBE1 gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 GLYCOGEN STORAGE DISEASE IV, CONGENITAL NEUROMUSCULAR</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GBE1, 627-BP DEL, EX8-12DEL
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000002917, RCV000056163
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with the fatal congenital neuromuscular form of glycogen storage disease IV (GSD4; 232500), Tay et al. (2004) identified a homozygous 627-bp deletion in the GBE1 gene, resulting in the deletion of exons 8-12. Residual branching enzyme activity was 0.8% of normal. The parents were related and had a previous intrauterine death associated with decreased fetal movements and polyhydramnios. The patient died at 5.5 weeks of age. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 GLYCOGEN STORAGE DISEASE IV, FATAL PERINATAL NEUROMUSCULAR</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GBE1, IVS1DS, G-A, +1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs397515343,
|
|
|
|
|
|
|
|
ClinVar: RCV000002918, RCV000056092, RCV001851595
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In the patient with fatal perinatal glycogen storage disease IV (GSD4; 232500) reported by Alegria et al. (1999), Bruno et al. (2004) identified a homozygous G-to-A transition at the donor splice site of intron 1 of the GBE1 gene, resulting in a 274-bp insertion, a premature stop codon, and truncation of the last 654 amino acids, or greater than 90% of the protein. Both unaffected parents were heterozygous for the mutation. The patient died at 4 days of age. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 GLYCOGEN STORAGE DISEASE IV, FATAL PERINATAL NEUROMUSCULAR</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GBE1, HIS545ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852889,
|
|
|
|
|
|
|
|
ClinVar: RCV000002919, RCV000056095, RCV003764519
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 Syrian sibs, born of consanguineous parents, with fatal perinatal glycogen storage disease IV (GSD4; 232500) reported by van Noort et al. (1993), Bruno et al. (2004) identified a homozygous 1634A-G transition in exon 13 of the GBE1 gene, resulting in a his545-to-arg (H545R) substitution. In a structural model based on the E. coli protein, the H545R mutation was predicted to alter the structure of the protein significantly. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 GLYCOGEN STORAGE DISEASE IV, CONGENITAL NEUROMUSCULAR</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GBE1, GLU592TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852890,
|
|
|
|
|
|
|
|
ClinVar: RCV000002920, RCV000056097
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 sibs with congenital neuromuscular glycogen storage disease IV (GSD4; 232500), Bruno et al. (2004) identified compound heterozygosity for 2 mutations in the GBE1 gene: a G-to-T transversion in exon 13, resulting in a glu592-to-ter (E592X) substitution and a 253-bp deletion between exon 3 and exon 7 (607839.0012). Residual GBE1 activity in fibroblasts was less than 5%. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 GLYCOGEN STORAGE DISEASE IV, CONGENITAL NEUROMUSCULAR</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GBE1, 253-BP DEL
|
|
|
|
|
|
<br />
|
|
|
|
|
|
|
|
ClinVar: RCV000002921
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 253-bp deletion in the GBE1 gene that was found in compound heterozygous state in 2 sibs with congenital neuromuscular glycogen storage disease IV by Bruno et al. (2004), see 607839.0011. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 GLYCOGEN STORAGE DISEASE IV, CHILDHOOD NEUROMUSCULAR</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GBE1, HIS628ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137852891,
|
|
|
|
|
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gnomAD: rs137852891,
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ClinVar: RCV000002922, RCV000056098, RCV001092351, RCV001851596, RCV005024997
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient with childhood neuromuscular glycogen storage disease IV (GSD4; 232500), Bruno et al. (2004) identified compound heterozygosity for 2 mutations in the GBE1 gene: an A-to-G transition in exon 14, resulting in a his628-to-arg (H628R) substitution and R524X (607839.0006). Residual GBE1 activity in fibroblasts was 15 to 25%. </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>.0014 GLYCOGEN STORAGE DISEASE IV, COMBINED HEPATIC AND MYOPATHIC</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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GBE1, 1-BP INS, 38A
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<br />
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SNP: rs1575782181,
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ClinVar: RCV000002923
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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 an infant with a combination of hepatic and muscular features of glycogen storage disease IV (GSD4; 232500) reported by Bruno et al. (1999), Bruno et al. (2004) identified compound heterozygosity for 2 mutations in the GBE1 gene: a 1-bp insertion at codon 13 in exon 1 and an R524Q substitution (607839.0007). Residual GBE1 activity in fibroblasts was 5 to 10%. </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>.0015 GLYCOGEN STORAGE DISEASE IV, CONGENITAL NEUROMUSCULAR</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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GBE1, GLN236HIS
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<br />
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SNP: rs137852892,
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gnomAD: rs137852892,
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ClinVar: RCV000002924, RCV001580444, RCV001851597, RCV002254901, RCV004532277, RCV005024998
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
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<p>In a 30-month-old girl with stable congenital neuromuscular glycogen storage disease IV (GSD4; 232500), Burrow et al. (2006) identified compound heterozygosity for a 708G-C transversion and a 784C-T transition in the GBE1 gene, resulting in a gln236-to-his (Q236H) and an arg262-to-cys (R262C; 607839.0016) substitution, respectively. Each parent was a carrier of 1 of the mutations. The authors stated that the patient was unique among patients with GSD IV, in that she had a stable myopathy and exhibited no cardiac or hepatic pathology at age 2.5 years. </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>.0016 GLYCOGEN STORAGE DISEASE IV, CONGENITAL NEUROMUSCULAR</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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GBE1, ARG262CYS
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<br />
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SNP: rs137852893,
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gnomAD: rs137852893,
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ClinVar: RCV000002925, RCV000501317, RCV001826408, RCV002512687
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>For discussion of the 784C-T transition in the GBE1 gene, resulting in an arg262-to-cys (R262C) substitution, that was identified in compound heterozygous state in a patient with glycogen storage disease IV (GSD4; 232500) by Burrow et al. (2006), see 607839.0015. </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>.0017 GLYCOGEN STORAGE DISEASE IV, CONGENITAL NEUROMUSCULAR</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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GBE1, IVS5DS, G-C, +5
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<br />
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SNP: rs397515344,
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ClinVar: RCV000002926, RCV000056135, RCV002512688
|
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In a female infant with congenital neuromuscular glycogen storage disease IV (GSD4; 232500), Assereto et al. (2007) identified a homozygous G-to-C transversion in intron 5 of the GBE1 gene (IVS5+5G-C), resulting in 2 abnormal mRNA transcripts lacking exon 5 and exons 5 and 6, respectively, that both led to a frameshift and premature termination. The pregnancy was complicated by polyhydramnios and reduced fetal movements, and she was born with severe hypotonia and flexion contractures. She died at age 4 weeks of cardiorespiratory failure. Each parent was heterozygous for the mutation. Assereto et al. (2007) emphasized that null mutations in the GBE1 gene are associated with a severe, often lethal, phenotype. </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>
|
|
<span class="mim-font">
|
|
<strong>.0018 GLYCOGEN STORAGE DISEASE IV, CONGENITAL NEUROMUSCULAR</strong>
|
|
</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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GBE1, TRP548TER
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<br />
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SNP: rs137852894,
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|
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|
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gnomAD: rs137852894,
|
|
|
|
|
|
ClinVar: RCV000002927, RCV000056096
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a female infant with congenital neuromuscular glycogen storage disease IV (GSD4; 232500), Assereto et al. (2007) identified a homozygous 1643G-A transition in exon 13 of the GBE1 gene, resulting in a trp548-to-ter (W548X) substitution. The pregnancy was complicated by polyhydramnios and reduced fetal movements. She was born with severe hypotonia and died at age 12 weeks of cardiorespiratory failure. Each parent was heterozygous for the mutation. Assereto et al. (2007) emphasized that null mutations in the GBE1 gene are associated with a severe, often lethal, phenotype. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0019 ADULT POLYGLUCOSAN BODY NEUROPATHY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GBE1, ARG515HIS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs201958741,
|
|
|
|
|
|
gnomAD: rs201958741,
|
|
|
|
|
|
ClinVar: RCV000157612, RCV000519980, RCV000692455, RCV001275349, RCV001826858, RCV002252009, RCV004535028
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a non-Ashkenazi patient with adult polyglucosan body neuropathy (APBN; 263570), Ziemssen et al. (2000) identified compound heterozygosity for an arg524-to-gln mutation (607839.0007) and an arg515-to-his (R515H) substitution in the GBE1 gene. The patient presented at age 46 years with gait disturbance, urinary urge incontinence, and hearing loss. She also had spastic tetraparesis, extensor plantar responses, and impaired sensation in the legs. Sural nerve biopsy showed polyglucosan bodies, and leukocyte GBE1 activity was 20% of normal. Each of her 2 clinically unaffected daughters carried one of the mutations and showed intermediate levels of GBE1 activity (80% of normal). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0020 ADULT POLYGLUCOSAN BODY NEUROPATHY</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GBE1, IVS15, 9-BP DEL/20-BP INS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs869320698,
|
|
|
|
|
|
gnomAD: rs869320698,
|
|
|
|
|
|
ClinVar: RCV000210799, RCV001526450, RCV001775673
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 13 patients of Ashkenazi Jewish descent with adult polyglucosan body neuropathy (APBN; 263570), Akman et al. (2015) identified compound heterozygous mutations in the GBE1 gene: in addition to the common founder Y329S mutation (607839.0002), all patients carried a complex deep intronic ins/del mutation in intron 15 (IVS15, +5289_5297del9ins20), resulting in an unstable truncated protein. PCR analysis showed that the abnormal sequence resulted in the splicing of exon 15 into an ectopic splice acceptor site, creating an abnormal exon 16 with a new stop codon. Haplotype analysis was consistent with a founder effect for the deep intronic mutation. The mean GBE activity in compound heterozygotes was 8% of normal compared to 18% of normal in Y329S homozygotes, but there was no obvious difference in phenotype. There were no homozygotes for the deep intronic mutation, suggesting that homozygosity for the mutation may be prenatal lethal. Akman et al. (2015) noted that the mutation was missed by whole-genome sequencing, emphasizing potential pitfalls in genetic diagnostics using this method. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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|
|
</div>
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
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|
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<li>
|
|
<p class="mim-text-font">
|
|
Akman, H. O., Emmanuele, V., Kurt, Y. G., Kurt, B., Sheiko, T., DiMauro, S., Craigen, W. J.
|
|
<strong>A novel mouse model that recapitulates adult-onset glycogenosis type 4.</strong>
|
|
Hum. Molec. Genet. 24: 6801-6810, 2015.
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|
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|
|
[PubMed: 26385640]
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|
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[Full Text: https://doi.org/10.1093/hmg/ddv385]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Akman, H. O., Kakhlon, O., Coku, J., Peverelli, L., Rosenmann, H., Rozenstein-Tsalkovich, L., Turnbull, J., Meiner, V., Chama, L., Lerer, I., Shpitzen, S., Leitersdorf, E., Paradas, C., Wallace, M., Schiffmann, R., DiMauro, S., Lossos, A., Minassian, B. A.
|
|
<strong>Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease.</strong>
|
|
JAMA Neurol. 72: 441-445, 2015. Note: Erratum: JAMA Neurol. 72: 481 only, 2015.
|
|
|
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|
|
[PubMed: 25665141]
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|
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[Full Text: https://doi.org/10.1001/jamaneurol.2014.4496]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Alegria, A., Martins, E., Dias, M., Cunha, A., Cardoso, M. L., Maire, I.
|
|
<strong>Glycogen storage disease type IV presenting as hydrops fetalis.</strong>
|
|
J. Inherit. Metab. Dis. 22: 330-332, 1999.
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|
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|
|
[PubMed: 10384399]
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[Full Text: https://doi.org/10.1023/a:1005568507267]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Assereto, S., van Diggelen, O. P., Diogo, L., Morava, E., Cassandrini, D., Carreira, I., de Boode, W.-P., Dilling, J., Garcia, P., Henriques, M., Rebelo, O., ter Laak, H., Minetti, C., Bruno, C.
|
|
<strong>Null mutations and lethal congenital forms of glycogen storage disease type IV.</strong>
|
|
Biochem. Biophys. Res. Commun. 361: 445-450, 2007.
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[PubMed: 17662246]
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[Full Text: https://doi.org/10.1016/j.bbrc.2007.07.074]
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</p>
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|
</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Bao, Y., Kishnani, P., Wu, J.-Y., Chen, Y.-T.
|
|
<strong>Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.</strong>
|
|
J. Clin. Invest. 97: 941-948, 1996.
|
|
|
|
|
|
[PubMed: 8613547]
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|
|
[Full Text: https://doi.org/10.1172/JCI118517]
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</p>
|
|
</li>
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|
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<li>
|
|
<p class="mim-text-font">
|
|
Bruno, C., DiRocco, M., Lamba, L. D., Bado, M., Marino, C., Tsujino, S., Shanske, S., Stella, G., Minetti, C., van Diggelen, O. P., DiMauro, S.
|
|
<strong>A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy.</strong>
|
|
Neuromusc. Disord. 9: 403-407, 1999.
|
|
|
|
|
|
[PubMed: 10545044]
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|
|
[Full Text: https://doi.org/10.1016/s0960-8966(99)00040-1]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Bruno, C., van Diggelen, O. P., Cassandrini, D., Gimpelev, M., Giuffre, B., Donati, M. A., Introvini, P., Alegria, A., Assereto, S., Morandi, L., Mora, M., Tonoli, E., Mascelli, S., Traverso, M., Pasquini, E., Bado, M., Vilarinho, L., van Noort, G., Mosca, F., DiMauro, S., Zara, F., Minetti, C.
|
|
<strong>Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).</strong>
|
|
Neurology 63: 1053-1058, 2004.
|
|
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|
|
|
[PubMed: 15452297]
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|
|
[Full Text: https://doi.org/10.1212/01.wnl.0000138429.11433.0d]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Burrow, T. A., Hopkin, R. J., Bove, K. E., Miles, L., Wong, B. L., Choudhary, A., Bali, D., Li, S. C., Chen, Y.-T.
|
|
<strong>Non-lethal congenital hypotonia due to glycogen storage disease type IV.</strong>
|
|
Am. J. Med. Genet. 140A: 878-882, 2006.
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|
|
[PubMed: 16528737]
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|
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[Full Text: https://doi.org/10.1002/ajmg.a.31166]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Fyfe, J. C., Kurzhals, R. L., Hawkins, M. G., Wang, P., Yuhki, N., Giger, U., Van Winkle, T. J., Haskins, M. E., Patterson, D. F., Henthorn, P. S.
|
|
<strong>A complex rearrangement in GBE1 causes both perinatal hypoglycemic collapse and late-juvenile-onset neuromuscular degeneration in glycogen storage disease type IV of Norwegian forest cats.</strong>
|
|
Molec. Genet. Metab. 90: 383-392, 2007. Note: Erratum: Molec. Genet. Metab. 104: 423 only, 2011.
|
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|
|
[PubMed: 17257876]
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|
|
[Full Text: https://doi.org/10.1016/j.ymgme.2006.12.003]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Fyfe, J. C., Kurzhals, R. L., Henthorn, P. S., Patterson, D. F.
|
|
<strong>Feline glycogenosis type IV is caused by a complex rearrangement deleting 6 kb of the branching enzyme gene and eliminating an exon. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 61: A251 only, 1997.
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|
|
</p>
|
|
</li>
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<li>
|
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<p class="mim-text-font">
|
|
Koch, R. L., Soler-Alfonso, C., Kiely, B. T., Asai, A., Smith, A. L., Bali, D. S., Kang, P. B., Landstrom, A. P., Akman, H. O., Burrow, T. A., Orthmann-Murphy, J. L., Goldman, D. S., Pendyal, S., El-Gharbawy, A. H., Austin, S. L., Case, L. E., Schiffmann, R., Hirano, M., Kishnani, P. S.
|
|
<strong>Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: a clinical practice resource.</strong>
|
|
Molec. Genet. Metab. 138: 107525, 2023.
|
|
|
|
|
|
[PubMed: 36796138]
|
|
|
|
|
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[Full Text: https://doi.org/10.1016/j.ymgme.2023.107525]
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Tay, S. K. H., Akman, H. O., Chung, W. K., Pike, M. G., Muntoni, F., Hays, A. P., Shanske, S., Valberg, S. J., Mickelson, J. R., Tanji, K., DiMauro, S.
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