4561 lines
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Entry
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- *309060 - LYSOSOME-ASSOCIATED MEMBRANE PROTEIN 2; LAMP2
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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">*309060</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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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="#geneFunction">Gene Function</a>
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#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/309060">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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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="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=ENSG00000005893;t=ENST00000200639" 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=3920" 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=309060" 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=ENSG00000005893;t=ENST00000200639" 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_001122606,NM_002294,NM_013995" 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_002294" 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=309060" 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=02396&isoform_id=02396_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/LAMP2" 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/307110,704463,1195542,1209629,1708854,1809215,2340102,2340103,4504957,7669503,12804215,45550060,119632286,119632287,119632288,119632289,158255616,169790833,194375932,194385728,221040556,1043113197,1043113227" 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/P13473" 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=3920" 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=ENSG00000005893;t=ENST00000200639" 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=LAMP2" 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=LAMP2" 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+3920" 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/LAMP2" 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:3920" 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/3920" 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=chrX&hgg_gene=ENST00000200639.9&hgg_start=120426148&hgg_end=120469349&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:6501" 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:6501" 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/lamp2" 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=309060[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=309060[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000005893" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.gwascentral.org/search?q=LAMP2" 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=LAMP2" 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="http://www.LOVD.nl/LAMP2" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=LAMP2&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/PA30285" 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:6501" 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/FBgn0032949.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:96748" 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/LAMP2#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:96748" 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/3920/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=3920" 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=WBGene00003053;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-030729-9" 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:3920" 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=LAMP2&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 419097006<br />
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<strong>ICD10CM:</strong> E74.05<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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309060
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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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LYSOSOME-ASSOCIATED MEMBRANE PROTEIN 2; LAMP2
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
LYSOSOME-ASSOCIATED MEMBRANE PROTEIN B; LAMPB<br />
|
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LYSOSOMAL MEMBRANE GLYCOPROTEIN, 110-KD; LGP110<br />
|
|
CD107B
|
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</span>
|
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</h4>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=LAMP2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">LAMP2</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
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<span class="mim-text-font">
|
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<strong>
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<em>
|
|
Cytogenetic location: <a href="/geneMap/X/627?start=-3&limit=10&highlight=627">Xq24</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chrX:120426148-120469349&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'})">X:120,426,148-120,469,349</a> </span>
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</em>
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
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</div>
|
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<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
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<th>
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|
Phenotype
|
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</th>
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<th>
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|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
|
Inheritance
|
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</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
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</thead>
|
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<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/X/627?start=-3&limit=10&highlight=627">
|
|
Xq24
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Danon disease
|
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/300257"> 300257 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked dominant">XLD</abbr>
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/309060" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/309060" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<p>The lysosomal membrane plays a vital role in the function of lysosomes by sequestering numerous acid hydrolases that are responsible for the degradation of foreign materials and for specialized autolytic functions. LAMP1 (<a href="/entry/153330">153330</a>) and LAMP2 are glycoproteins that constitute a significant fraction of the total lysosomal membrane glycoproteins. Both consist of polypeptides of about 40 kD, with 16 to 20 N-linked saccharides attached to the core polypeptides (<a href="#8" class="mim-tip-reference" title="Fukuda, M., Viitala, J., Matteson, J., Carlsson, S. R. <strong>Cloning of the cDNAs encoding human lysosomal membrane glycoproteins, h-lamp-1 and h-lamp-2: comparison of their deduced amino acid sequences.</strong> J. Biol. Chem. 263: 18920-18928, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3198605/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3198605</a>]" pmid="3198605">Fukuda et al., 1988</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3198605" 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="#8" class="mim-tip-reference" title="Fukuda, M., Viitala, J., Matteson, J., Carlsson, S. R. <strong>Cloning of the cDNAs encoding human lysosomal membrane glycoproteins, h-lamp-1 and h-lamp-2: comparison of their deduced amino acid sequences.</strong> J. Biol. Chem. 263: 18920-18928, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3198605/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3198605</a>]" pmid="3198605">Fukuda et al. (1988)</a> isolated human cDNAs encoding LAMP1 and LAMP2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3198605" 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>Using mouse Lgp110 to screen a human liver cDNA library, <a href="#11" class="mim-tip-reference" title="Konecki, D. S., Foetisch, K., Schlotter, M., Lichter-Konecki, U. <strong>Complete cDNA sequence of human lysosome-associated membrane protein-2.</strong> Biochem. Biophys. Res. Commun. 205: 1-5, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7999007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7999007</a>] [<a href="https://doi.org/10.1006/bbrc.1994.2620" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7999007">Konecki et al. (1994)</a> cloned LAMP2. Sequencing analysis indicated that there are 4 polyadenylation signals in the 3-prime UTR, with the second being the most frequently used. The deduced 410-amino acid protein contains a leader sequence; a luminal domain consisting of 2 homologous domains with 4 identically spaced cysteines linked by 2 disulfide bonds; a 20-amino acid transmembrane region; and a short cytoplasmic tail containing the lysosomal membrane targeting signal. The protein is heavily N-glycosylated. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7999007" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By screening human liver and pheochromocytoma cDNA libraries, <a href="#12" class="mim-tip-reference" title="Konecki, D. S., Foetisch, K., Zimmer, K.-P., Schlotter, M., Lichter-Konecki, U. <strong>An alternatively spliced form of the human lysosome-associated membrane protein-2 gene is expressed in a tissue-specific manner.</strong> Biochem. Biophys. Res. Commun. 215: 757-767, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7488019/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7488019</a>] [<a href="https://doi.org/10.1006/bbrc.1995.2528" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7488019">Konecki et al. (1995)</a> identified a LAMP2 variant, which they called LAMP2B, that results from alternative splicing of exon 9. They designated the variant reported by <a href="#11" class="mim-tip-reference" title="Konecki, D. S., Foetisch, K., Schlotter, M., Lichter-Konecki, U. <strong>Complete cDNA sequence of human lysosome-associated membrane protein-2.</strong> Biochem. Biophys. Res. Commun. 205: 1-5, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7999007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7999007</a>] [<a href="https://doi.org/10.1006/bbrc.1994.2620" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7999007">Konecki et al. (1994)</a> as LAMP2A. The deduced LAMP2B protein contains 410 amino acids, like the LAMP2A protein, but its C-terminal sequence differs in the last 11 amino acids of the luminal domain, the transmembrane domain, and the cytoplasmic tail. LAMP2B retains the lysosomal targeting signal, gly-tyr-x-x, and has the same number of potential glycosylation sites as LAMB2A. The LAMP2B variant has 3 polyadenylation signals in the 3-prime UTR. Using a common 5-prime LAMP2 sequence as probe for Northern blot analysis, <a href="#12" class="mim-tip-reference" title="Konecki, D. S., Foetisch, K., Zimmer, K.-P., Schlotter, M., Lichter-Konecki, U. <strong>An alternatively spliced form of the human lysosome-associated membrane protein-2 gene is expressed in a tissue-specific manner.</strong> Biochem. Biophys. Res. Commun. 215: 757-767, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7488019/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7488019</a>] [<a href="https://doi.org/10.1006/bbrc.1995.2528" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7488019">Konecki et al. (1995)</a> identified 6 major LAMP2 transcripts in liver and 4 major transcripts in pheochromocytoma mRNA. By Northern blot analysis using LAMP2B-specific probes, they detected highest expression of LAMP2B in skeletal muscle, with very low expression in liver. LAMP2B was also expressed in fibroblasts and fetal liver. Northern blot analysis using LAMP2A-specific probes detected highest LAMP2A expression in placenta, lung, and liver, with much lower expression in skeletal muscle. Immunoelectron microscopy localized LAMP2 primarily on the luminal side of endocytic organelles. No labeling of the plasma membrane was observed. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7999007+7488019" 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>LAMP2 is thought to protect the lysosomal membrane from proteolytic enzymes within lysosomes and to act as a receptor for proteins to be imported into lysosomes (<a href="#9" class="mim-tip-reference" title="Fukuda, M. <strong>Biogenesis of the lysosomal membrane.</strong> Subcell. Biochem. 22: 199-230, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8146882/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8146882</a>] [<a href="https://doi.org/10.1007/978-1-4615-2401-4_7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8146882">Fukuda, 1994</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8146882" 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="#10" class="mim-tip-reference" title="Kain, R., Exner, M., Brandes, R., Ziebermayr, R., Cunningham, D., Alderson, C. A., Davidovits, A., Raab, I., Jahn, R., Ashour, O., Spitzauer, S., Sunder-Plassmann, G., Fukuda, M., Klemm, P., Rees, A. J., Kerjaschki, D. <strong>Molecular mimicry in pauci-immune focal necrotizing glomerulonephritis.</strong> Nature Med. 14: 1088-1096, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18836458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18836458</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18836458[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/10.1038/nm.1874" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18836458">Kain et al. (2008)</a> found that virtually all individuals with pauci-immune focal necrotizing glomerulonephritis (FNGN) had autoantibodies against LAMP2 and that autoantibodies against LAMP2 caused this disease when injected into rats. A monoclonal antibody to human LAMP2 induced apoptosis of human microvascular endothelium in vitro. The autoantibodies in individuals with pauci-immune FNGN commonly recognize a human LAMP2 epitope with 100% homology to the bacterial adhesin FimH, with which they crossreact. Rats immunized with FimH developed pauci-immune FNGN and also developed antibodies to rat and human LAMP2. Finally, <a href="#10" class="mim-tip-reference" title="Kain, R., Exner, M., Brandes, R., Ziebermayr, R., Cunningham, D., Alderson, C. A., Davidovits, A., Raab, I., Jahn, R., Ashour, O., Spitzauer, S., Sunder-Plassmann, G., Fukuda, M., Klemm, P., Rees, A. J., Kerjaschki, D. <strong>Molecular mimicry in pauci-immune focal necrotizing glomerulonephritis.</strong> Nature Med. 14: 1088-1096, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18836458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18836458</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18836458[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/10.1038/nm.1874" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18836458">Kain et al. (2008)</a> showed that infections with fimbriated pathogens are common before the onset of FNGN. Thus, <a href="#10" class="mim-tip-reference" title="Kain, R., Exner, M., Brandes, R., Ziebermayr, R., Cunningham, D., Alderson, C. A., Davidovits, A., Raab, I., Jahn, R., Ashour, O., Spitzauer, S., Sunder-Plassmann, G., Fukuda, M., Klemm, P., Rees, A. J., Kerjaschki, D. <strong>Molecular mimicry in pauci-immune focal necrotizing glomerulonephritis.</strong> Nature Med. 14: 1088-1096, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18836458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18836458</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18836458[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/10.1038/nm.1874" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18836458">Kain et al. (2008)</a> concluded that FimH-triggered autoimmunity to LAMP2 provides a previously undescribed clinically relevant molecular mechanism for the development of pauci-immune FNGN. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18836458" 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="#12" class="mim-tip-reference" title="Konecki, D. S., Foetisch, K., Zimmer, K.-P., Schlotter, M., Lichter-Konecki, U. <strong>An alternatively spliced form of the human lysosome-associated membrane protein-2 gene is expressed in a tissue-specific manner.</strong> Biochem. Biophys. Res. Commun. 215: 757-767, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7488019/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7488019</a>] [<a href="https://doi.org/10.1006/bbrc.1995.2528" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7488019">Konecki et al. (1995)</a> determined that the LAMP2 gene contains 9 coding exons, with 2 alternate last exons, 9a and 9b. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7488019" 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 in situ hybridization, <a href="#15" class="mim-tip-reference" title="Mattei, M.-G., Matterson, J., Chen, J. W., Williams, M. A., Fukuda, M. <strong>Two human lysosomal membrane glycoproteins, h-lamp-1 and h-lamp-2, are encoded by genes localized to chromosome 13q34 and chromosome Xq24-25, respectively.</strong> J. Biol. Chem. 265: 7548-7551, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2332441/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2332441</a>]" pmid="2332441">Mattei et al. (1990)</a> mapped the LAMP2 gene to Xq24-q25. This was taken to support the view that LAMP1 and LAMP2 diverged relatively early in evolution and that they have distinct functions which emerged as soon as eukaryotic cells acquired lysosomes as subcellular compartments. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2332441" 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>Isolation and identification of human genes can be helped by isolation of cDNA clones, identification of DNA fragments conserved in distant species, and direct sequence analysis. Identification of CpG islands is an additional tool. CpG islands, unmethylated tracts of DNA that are 0.5 to 2 kb long and very rich in G+C and in the dinucleotide CpG, are located in the 5-prime region of all sequenced housekeeping genes and of many tissue-specific genes (<a href="#2" class="mim-tip-reference" title="Bird, A. P. <strong>HTF islands as gene markers in the vertebrate nucleus.</strong> Trends Genet. 3: 342-347, 1987."None>Bird, 1987</a>). The lack of methylation of CpG islands makes them a preferential site of cleavage for methylation-sensitive restriction enzymes with one or more CpGs in their recognition site, such as HpaII, EagI, SacII, BssHII, and NotI. <a href="#13" class="mim-tip-reference" title="Lindsay, S., Bird, A. P. <strong>Use of restriction enzymes to detect potential gene sequences in mammalian DNA.</strong> Nature 327: 336-338, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2438557/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2438557</a>] [<a href="https://doi.org/10.1038/327336a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2438557">Lindsay and Bird (1987)</a> demonstrated the usefulness of CpG islands as landmarks for identifying genes. In an EagI-EcoRI library of the distal long arm of the human X chromosome, <a href="#14" class="mim-tip-reference" title="Manoni, M., Tribioli, C., Lazzari, B., DeBellis, G., Patrosso, C., Pergolizzi, R., Pellegrini, M., Maestrini, E., Rivella, S., Vezzoni, P., Toniolo, D. <strong>The nucleotide sequence of a CpG island demonstrates the presence of the first exon of the gene encoding the human lysosomal membrane protein LAMP2 and assigns the gene to Xq24.</strong> Genomics 9: 551-554, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2032724/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2032724</a>] [<a href="https://doi.org/10.1016/0888-7543(91)90424-d" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2032724">Manoni et al. (1991)</a> found a clone that mapped to Xq24 (by hybridization with a panel of human-hamster cell hybrids carrying deletions of different portions of the human X chromosome between Xq24 and Xqter). Using Southern hybridization and hamster/human hybrid cell panels, <a href="#20" class="mim-tip-reference" title="Schleutker, J., Haataja, L., Renlund, M., Puhakka, L., Viitala, J., Peltonen, L., Aula, P. <strong>Confirmation of the chromosomal localization of human lamp genes and their exclusion as candidate genes for Salla disease.</strong> Hum. Genet. 88: 95-97, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1959930/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1959930</a>] [<a href="https://doi.org/10.1007/BF00204936" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1959930">Schleutker et al. (1991)</a> confirmed the localization of the LAMP2 gene on the X chromosome. In the course of high-resolution comparative mapping of the proximal region of the mouse X chromosome, <a href="#3" class="mim-tip-reference" title="Blair, H. J., Ho, M., Monaco, A. P., Fisher, S., Craig, I. W., Boyd, Y. <strong>High-resolution comparative mapping of the proximal region of the mouse X chromosome.</strong> Genomics 28: 305-310, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8530041/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8530041</a>] [<a href="https://doi.org/10.1006/geno.1995.1146" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8530041">Blair et al. (1995)</a> demonstrated the location of the Lamp2 gene in relation to others. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2438557+2032724+1959930+8530041" 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 10 patients with Danon disease (<a href="/entry/300257">300257</a>), <a href="#17" class="mim-tip-reference" title="Nishino, I., Fu, J., Tanji, K., Yamada, T., Shimojo, S., Koori, T., Mora, M., Riggs, J. E., Oh, S. J., Koga, Y., Sue, C. M., Yamamoto, A., Murakami, N., Shanske, S., Byrne, E., Bonilla, E., Nonaka, I., DiMauro, S., Hirano, M. <strong>Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).</strong> Nature 406: 906-910, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10972294/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10972294</a>] [<a href="https://doi.org/10.1038/35022604" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10972294">Nishino et al. (2000)</a> identified mutations in the LAMP2 gene (see, e.g., <a href="#0001">309060.0001</a>-<a href="#0006">309060.0006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10972294" 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="#5" class="mim-tip-reference" title="Charron, P., Villard, E., Sebillon, P., Laforet, P., Maisonobe, T., Duboscq-Bidot, L., Romero, N., Drouin-Garraud, V., Frebourg, T., Richard, P., Eymard, B., Komajda, M. <strong>Danon's disease as a cause of hypertrophic cardiomyopathy: a systematic survey.</strong> Heart 90: 842-846, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15253947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15253947</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15253947[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/10.1136/hrt.2003.029504" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15253947">Charron et al. (2004)</a> analyzed the LAMP2 gene in 50 patients diagnosed with hypertrophic cardiomyopathy (CMH; see <a href="/entry/192600">192600</a>) who were negative for mutations in 9 sarcomeric genes and did not have autosomal dominant inheritance. The authors identified 2 different mutations in the LAMP2 gene (<a href="#0008">309060.0008</a> and <a href="#0009">309060.0009</a>)in 2 patients, both of whom had skeletal muscle weakness on examination and PAS-positive sarcoplasmic vacuoles on skeletal muscle biopsy by light microscopy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15253947" 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>LAMP2 mutations typically cause multisystem Danon disease, which can also present as a primary cardiomyopathy. In genetic analyses of 24 subjects with increased left ventricular wall thickness and electrocardiogram suggesting ventricular preexcitation, <a href="#1" class="mim-tip-reference" title="Arad, M., Maron, B. J., Gorham, J. M., Johnson, W. H., Jr., Saul, J. P., Perez-Atayde, A. R., Spirito, P., Wright, G. B., Kanter, R. J., Seidman, C. E., Seidman, J. G. <strong>Glycogen storage diseases presenting as hypertrophic cardiomyopathy.</strong> New Eng. J. Med. 352: 362-372, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15673802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15673802</a>] [<a href="https://doi.org/10.1056/NEJMoa033349" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15673802">Arad et al. (2005)</a> found 4 LAMP2 mutations (see, e.g., <a href="#0010">309060.0010</a>) and 7 PRKAG2 (<a href="/entry/602743">602743</a>) mutations. Clinical features associated with defects in LAMP2 included male sex, severe hypertrophy, early onset (at 8 to 17 years of age), ventricular preexcitation, and asymptomatic elevations of 2 serum proteins. Mutations in heterozygous state appeared to be responsible for unusual heart disease in some females. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15673802" 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 family (XLCM-2) that presented with dilated cardiomyopathy and was linked to the dystrophin gene (<a href="/entry/300377">300377</a>) by <a href="#24" class="mim-tip-reference" title="Towbin, J. A., Hejtmancik, J. F., Brink, P., Gelb, B., Zhu, X. M., Chamberlain, J. S., McCabe, E. R. B., Swift, M. <strong>X-linked dilated cardiomyopathy: molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus.</strong> Circulation 87: 1854-1865, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8504498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8504498</a>] [<a href="https://doi.org/10.1161/01.cir.87.6.1854" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8504498">Towbin et al. (1993)</a>, <a href="#23" class="mim-tip-reference" title="Taylor, M. R. G., Ku, L., Slavov, D., Cavanaugh, J., Boucek, M., Zhu, X., Graw, S., Carniel, E., Barnes, C., Quan, D., Prall, R., Lovell, M. A., Mierau, G., Ruegg, P., Mandava, N., Bristow, M. R., Towbin, J. A., Mestroni, L. <strong>Danon disease presenting with dilated cardiomyopathy and a complex phenotype.</strong> J. Hum. Genet. 52: 830-835, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17899313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17899313</a>] [<a href="https://doi.org/10.1007/s10038-007-0184-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17899313">Taylor et al. (2007)</a> identified a mutation in the LAMP2 gene (<a href="#0012">309060.0012</a>), confirming a diagnosis of Danon disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8504498+17899313" 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="#19" class="mim-tip-reference" title="Roos, J. C. P., Daniels, M. J., Morris, E., Hyry, H. I., Cox, T. M. <strong>Heterogeneity in a large pedigree with Danon disease: implications for pathogenesis and management.</strong> Molec. Genet. Metab. 123: 177-183, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28822614/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28822614</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28822614[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.2017.06.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28822614">Roos et al. (2018)</a> identified hemizygosity or heterozygosity for a splicing mutation in the LAMP2 gene (<a href="#0013">309060.0013</a>) in 4 males and 3 females from a family with variable features of Danon disease. LAMP2 expression was decreased in fibroblasts from the proband. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28822614" 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="#22" class="mim-tip-reference" title="Tanaka, Y., Guhde, G., Suter, A., Eskelinen, E.-L., Hartmann, D., Lullmann-Rauch, R., Janssen, P. M. L., Blanz, J., von Figura, K., Saftig, P. <strong>Accumulation of autophagic vacuoles and cardiomyopathy in LAMP-2-deficient mice.</strong> Nature 406: 902-906, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10972293/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10972293</a>] [<a href="https://doi.org/10.1038/35022595" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10972293">Tanaka et al. (2000)</a> generated mice deficient in Lamp2 by targeted disruption. Lamp2 knockout mice showed elevated mortality and reduced weight compared with their wildtype littermates. About 50% of Lamp2-deficient animals died between postnatal days 20 and 40, independent of sex and genetic background (C57B6/Jx129SV and 129SV). In addition, Lamp2-deficient mice were smaller than wildtype mice. Surviving mice were fertile and had an almost normal life span. Ultrastructurally, there was extensive accumulation of autophagic vacuoles in many tissues, including liver, pancreas, spleen, kidney, and skeletal and heart muscle. In hepatocytes, the autophagic degradation of long-lived proteins was severely impaired. Cardiac myocytes were ultrastructurally abnormal and heart contractility was severely reduced. These findings indicated that LAMP2 is critical for autophagy. This theory was further substantiated by the finding that human LAMP2 deficiency, which causes Danon disease, is associated with the accumulation of autophagic material in striated myocytes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10972293" 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 Japanese male (patient 1) with Danon disease (<a href="/entry/300257">300257</a>) diagnosed after muscle biopsy, <a href="#17" class="mim-tip-reference" title="Nishino, I., Fu, J., Tanji, K., Yamada, T., Shimojo, S., Koori, T., Mora, M., Riggs, J. E., Oh, S. J., Koga, Y., Sue, C. M., Yamamoto, A., Murakami, N., Shanske, S., Byrne, E., Bonilla, E., Nonaka, I., DiMauro, S., Hirano, M. <strong>Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).</strong> Nature 406: 906-910, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10972294/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10972294</a>] [<a href="https://doi.org/10.1038/35022604" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10972294">Nishino et al. (2000)</a> identified a 2-bp deletion (1097delAA) in exon 9b of the LAMP2 gene, resulting in a frameshift. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10972294" 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 Japanese male (patient 2) with Danon disease (<a href="/entry/300257">300257</a>), <a href="#17" class="mim-tip-reference" title="Nishino, I., Fu, J., Tanji, K., Yamada, T., Shimojo, S., Koori, T., Mora, M., Riggs, J. E., Oh, S. J., Koga, Y., Sue, C. M., Yamamoto, A., Murakami, N., Shanske, S., Byrne, E., Bonilla, E., Nonaka, I., DiMauro, S., Hirano, M. <strong>Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).</strong> Nature 406: 906-910, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10972294/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10972294</a>] [<a href="https://doi.org/10.1038/35022604" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10972294">Nishino et al. (2000)</a> identified a 440T-A transversion in the LAMP2 gene, resulting in a leu113-to-ter (L113X) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10972294" 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">rs1352584474 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1352584474;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=rs1352584474" 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=rs1352584474" 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=RCV000010656" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010656" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010656</a>
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<p>In a Japanese male (patient 3) with Danon disease (<a href="/entry/300257">300257</a>), <a href="#17" class="mim-tip-reference" title="Nishino, I., Fu, J., Tanji, K., Yamada, T., Shimojo, S., Koori, T., Mora, M., Riggs, J. E., Oh, S. J., Koga, Y., Sue, C. M., Yamamoto, A., Murakami, N., Shanske, S., Byrne, E., Bonilla, E., Nonaka, I., DiMauro, S., Hirano, M. <strong>Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).</strong> Nature 406: 906-910, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10972294/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10972294</a>] [<a href="https://doi.org/10.1038/35022604" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10972294">Nishino et al. (2000)</a> identified a G-to-C transversion at the +5 position of intron 6 of the LAMP2 gene. This mutation resulted in the skipping of exon 6. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10972294" 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 href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000010657" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010657" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010657</a>
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<p>In an Italian male (patient 4) with Danon disease (<a href="/entry/300257">300257</a>), <a href="#17" class="mim-tip-reference" title="Nishino, I., Fu, J., Tanji, K., Yamada, T., Shimojo, S., Koori, T., Mora, M., Riggs, J. E., Oh, S. J., Koga, Y., Sue, C. M., Yamamoto, A., Murakami, N., Shanske, S., Byrne, E., Bonilla, E., Nonaka, I., DiMauro, S., Hirano, M. <strong>Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).</strong> Nature 406: 906-910, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10972294/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10972294</a>] [<a href="https://doi.org/10.1038/35022604" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10972294">Nishino et al. (2000)</a> identified a 1-bp insertion (974insA) in exon 8 of the LAMP2 gene, resulting in a frameshift. This patient was initially described by <a href="#7" class="mim-tip-reference" title="Dworzak, F., Casazza, F., Mora, C. M., De Maria, R., Gronda, E., Baroldi, G., Rimoldi, M., Morandi, L., Cornelio, F. <strong>Lysosomal glycogen storage with normal acid maltase: a familial study with successful heart transplant.</strong> Neuromusc. Disord. 4: 243-247, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7919972/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7919972</a>] [<a href="https://doi.org/10.1016/0960-8966(94)90025-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7919972">Dworzak et al. (1994)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10972294+7919972" 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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LAMP2, IVS5DS, G-A, +1
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1251075016 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1251075016;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=rs1251075016" 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=rs1251075016" 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=RCV000010658 OR RCV002381247" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010658, RCV002381247" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010658...</a>
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<p>In affected males from 3 different families with Danon disease (<a href="/entry/300257">300257</a>), <a href="#17" class="mim-tip-reference" title="Nishino, I., Fu, J., Tanji, K., Yamada, T., Shimojo, S., Koori, T., Mora, M., Riggs, J. E., Oh, S. J., Koga, Y., Sue, C. M., Yamamoto, A., Murakami, N., Shanske, S., Byrne, E., Bonilla, E., Nonaka, I., DiMauro, S., Hirano, M. <strong>Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).</strong> Nature 406: 906-910, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10972294/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10972294</a>] [<a href="https://doi.org/10.1038/35022604" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10972294">Nishino et al. (2000)</a> identified a 6-bp insertion at the junctions of exons 5 and 6 of the LAMP2 gene. The inserted nucleotides had the same sequence as the 5-prime end of intron 5. Conceivably, nucleotides 7 and 8 (GT) immediately after the inserted sequence in intron 5 were recognized as an alternative splice donor site. The inserted sequence encoded an in-frame stop codon, which predicted premature termination of the nascent polypeptide. This mutation was found in a Japanese family (patient 6), an African American family (patient 7), and an Anglo-Saxon family (patient 8). The African American family was originally reported by <a href="#6" class="mim-tip-reference" title="Danon, M. J., Oh, S. J., DiMauro, S., Manaligod, J. R., Eastwood, A., Naidu, S., Schliselfeld, L. H. <strong>Lysosomal glycogen storage disease with normal acid maltase.</strong> Neurology 31: 51-57, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6450334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6450334</a>] [<a href="https://doi.org/10.1212/wnl.31.1.51" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6450334">Danon et al. (1981)</a>, and the Anglo-Saxon family had been reported by <a href="#18" class="mim-tip-reference" title="Riggs, J. E., Schochet, S. S., Jr., Gutmann, L., Shanske, S., Neal, W. A., DiMauro, S. <strong>Lysosomal glycogen storage disease without acid maltase deficiency.</strong> Neurology 33: 873-877, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6408499/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6408499</a>] [<a href="https://doi.org/10.1212/wnl.33.7.873" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6408499">Riggs et al. (1983)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6408499+10972294+6450334" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 DANON DISEASE</strong>
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LAMP2, 1-BP DEL, 14G
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1183994410 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1183994410;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=rs1183994410" 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=rs1183994410" 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=RCV000010659" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010659" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010659</a>
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<p>In a male patient (patient 9) from a large Greek family with Danon disease (<a href="/entry/300257">300257</a>) initially reported by <a href="#4" class="mim-tip-reference" title="Byrne, E., Dennett, X., Crotty, B., Trounce, I., Sands, J. M., Hawkins, R., Hammond, J., Anderson, S., Haan, E. A., Pollard, A. <strong>Dominantly inherited cardioskeletal myopathy with lysosomal glycogen storage and normal acid maltase levels.</strong> Brain 109: 523-536, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3087571/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3087571</a>] [<a href="https://doi.org/10.1093/brain/109.3.523" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3087571">Byrne et al. (1986)</a>, <a href="#17" class="mim-tip-reference" title="Nishino, I., Fu, J., Tanji, K., Yamada, T., Shimojo, S., Koori, T., Mora, M., Riggs, J. E., Oh, S. J., Koga, Y., Sue, C. M., Yamamoto, A., Murakami, N., Shanske, S., Byrne, E., Bonilla, E., Nonaka, I., DiMauro, S., Hirano, M. <strong>Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).</strong> Nature 406: 906-910, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10972294/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10972294</a>] [<a href="https://doi.org/10.1038/35022604" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10972294">Nishino et al. (2000)</a> identified a 1-bp deletion (14delG) in exon 1 of the LAMP2 gene, resulting in a frameshift. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3087571+10972294" 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">rs1327363415 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1327363415;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=rs1327363415" 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=rs1327363415" 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=RCV000010660" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010660" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010660</a>
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<p><a href="#21" class="mim-tip-reference" title="Takahashi, M., Yamamoto, A., Takano, K., Sudo, A., Wada, T., Goto, Y. I., Nishino, I., Saitoh, S. <strong>Germline mosaicism of a novel mutation in lysosome-associated membrane protein-2 deficiency (Danon disease).</strong> Ann. Neurol. 52: 122-125, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12112061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12112061</a>] [<a href="https://doi.org/10.1002/ana.10235" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12112061">Takahashi et al. (2002)</a> described a brother and sister with Danon disease (<a href="/entry/300257">300257</a>) who had 1-bp insertion (883insT) in the LAMP2 gene. The mutation was not detected in their mother's peripheral blood or buccal cells, thus indicating germline mosaicism. The proband was a 7-year-old boy with normal early motor and cognitive development, found to have an abnormal EKG and elevated blood creatinine kinase. EKG indicated left ventricular hypertrophy, confirmed by echocardiogram. Neurologic examination showed normal mentation and mild weakness of the neck muscles. He attended regular school. The 6-year-old sister had developed normally and had an unremarkable clinical examination, but on EKG showed left ventricular hypertrophy and by echocardiogram hypertrophic cardiomyopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12112061" 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">rs1436181133 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1436181133;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=rs1436181133" 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=rs1436181133" 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=RCV000010661" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010661" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010661</a>
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<p>In a 24-year-old male with Danon disease (<a href="/entry/300257">300257</a>), <a href="#5" class="mim-tip-reference" title="Charron, P., Villard, E., Sebillon, P., Laforet, P., Maisonobe, T., Duboscq-Bidot, L., Romero, N., Drouin-Garraud, V., Frebourg, T., Richard, P., Eymard, B., Komajda, M. <strong>Danon's disease as a cause of hypertrophic cardiomyopathy: a systematic survey.</strong> Heart 90: 842-846, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15253947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15253947</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15253947[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/10.1136/hrt.2003.029504" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15253947">Charron et al. (2004)</a> identified a 7-bp deletion (173del7) in the LAMP2 gene, resulting in a frameshift and a premature stop at codon 17. The patient's mother also carried the mutation; 3 of her brothers and her mother had premature cardiac deaths at ages ranging from 7 to 34 years. The patient had markedly decreased left ventricular function with an ejection fraction of 20%, mild distal muscle weakness, mild amyotrophy of the lower limbs with pes cavus, and no mental retardation; he also had severe decreased visual acuity bilaterally, due to choriocapillary atrophy. He died of heart failure at 25 years of age while awaiting transplantation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15253947" 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">rs104894857 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894857;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=rs104894857" 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=rs104894857" 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=RCV000010662" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010662" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010662</a>
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<p>In a patient with Danon disease (<a href="/entry/300257">300257</a>), <a href="#5" class="mim-tip-reference" title="Charron, P., Villard, E., Sebillon, P., Laforet, P., Maisonobe, T., Duboscq-Bidot, L., Romero, N., Drouin-Garraud, V., Frebourg, T., Richard, P., Eymard, B., Komajda, M. <strong>Danon's disease as a cause of hypertrophic cardiomyopathy: a systematic survey.</strong> Heart 90: 842-846, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15253947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15253947</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15253947[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/10.1136/hrt.2003.029504" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15253947">Charron et al. (2004)</a> identified a de novo 657C-T transition in exon 4 of the LAMP2 gene, resulting in a gln174-to-ter (Q174X) substitution. The patient was diagnosed at age 14 years because of syncope, at which time ECG revealed normal sinus rhythm with high QRS voltage and Wolff-Parkinson-White syndrome and echocardiography showed increased left ventricular wall thickness with no outflow tract gradient and a normal ejection fraction. He had mild skeletal weakness but no mental retardation or ophthalmic abnormality. At 22 years of age, he underwent cardiac transplantation due to severe heart failure and died in the postoperative period. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15253947" 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">rs104894858 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894858;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=rs104894858" 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=rs104894858" 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=RCV000010663 OR RCV000157981 OR RCV000844638 OR RCV002371769" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010663, RCV000157981, RCV000844638, RCV002371769" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010663...</a>
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<p>In a male proband with Danon disease (<a href="/entry/300257">300257</a>), described as glycogen storage disease presenting as hypertrophic cardiomyopathy, <a href="#1" class="mim-tip-reference" title="Arad, M., Maron, B. J., Gorham, J. M., Johnson, W. H., Jr., Saul, J. P., Perez-Atayde, A. R., Spirito, P., Wright, G. B., Kanter, R. J., Seidman, C. E., Seidman, J. G. <strong>Glycogen storage diseases presenting as hypertrophic cardiomyopathy.</strong> New Eng. J. Med. 352: 362-372, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15673802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15673802</a>] [<a href="https://doi.org/10.1056/NEJMoa033349" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15673802">Arad et al. (2005)</a> found a 928G-A transition in the LAMP2 gene that resulted in a val310-to-ile (V310I) amino acid substitution. The mutation affected RNA processing and hence produced a frameshift (K289FS). Genetic studies demonstrated mosaicism: both mutant and wildtype LAMP2 sequences were identified despite a normal XY karyotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15673802" 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">rs104894859 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894859;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=rs104894859" 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=rs104894859" 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=RCV000010664" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010664" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010664</a>
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<p>In a male patient with hypertrophic cardiomyopathy, exercise intolerance, and hyperCKemia consistent with a mild form of Danon disease (<a href="/entry/300257">300257</a>), <a href="#16" class="mim-tip-reference" title="Musumeci, O., Rodolico, C., Nishino, I., Di Guardo, G., Migliorato, A., Aguennouz, M., Mazzeo, A., Messina, C., Vita, G., Toscano, A. <strong>Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in the Lamp-2 gene.</strong> Neuromusc. Disord. 15: 409-411, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15907287/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15907287</a>] [<a href="https://doi.org/10.1016/j.nmd.2005.02.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15907287">Musumeci et al. (2005)</a> identified a 961T-C transition in exon 8 of the LAMP2 gene, resulting in a trp321-to-arg (W321R) substitution in a highly conserved region of the protein. Muscle biopsy showed LAMP2 deficiency, PAS-positive sarcoplasmic vacuoles, and intense staining for complement C5b-9 membrane attack complex proteins within the vacuoles. The patient did not have muscle weakness or mental retardation. <a href="#16" class="mim-tip-reference" title="Musumeci, O., Rodolico, C., Nishino, I., Di Guardo, G., Migliorato, A., Aguennouz, M., Mazzeo, A., Messina, C., Vita, G., Toscano, A. <strong>Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in the Lamp-2 gene.</strong> Neuromusc. Disord. 15: 409-411, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15907287/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15907287</a>] [<a href="https://doi.org/10.1016/j.nmd.2005.02.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15907287">Musumeci et al. (2005)</a> stated that this was the first missense mutation reported in the LAMP2 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15907287" 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="0012" class="mim-anchor"></a>
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LAMP2, 1-BP DEL, 1219A
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1436664364 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1436664364;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=rs1436664364" 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=rs1436664364" 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=RCV001783563" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001783563" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001783563</a>
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<p>In affected members of a family with Danon disease (<a href="/entry/300257">300257</a>), originally studied by <a href="#24" class="mim-tip-reference" title="Towbin, J. A., Hejtmancik, J. F., Brink, P., Gelb, B., Zhu, X. M., Chamberlain, J. S., McCabe, E. R. B., Swift, M. <strong>X-linked dilated cardiomyopathy: molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus.</strong> Circulation 87: 1854-1865, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8504498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8504498</a>] [<a href="https://doi.org/10.1161/01.cir.87.6.1854" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8504498">Towbin et al. (1993)</a>, <a href="#23" class="mim-tip-reference" title="Taylor, M. R. G., Ku, L., Slavov, D., Cavanaugh, J., Boucek, M., Zhu, X., Graw, S., Carniel, E., Barnes, C., Quan, D., Prall, R., Lovell, M. A., Mierau, G., Ruegg, P., Mandava, N., Bristow, M. R., Towbin, J. A., Mestroni, L. <strong>Danon disease presenting with dilated cardiomyopathy and a complex phenotype.</strong> J. Hum. Genet. 52: 830-835, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17899313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17899313</a>] [<a href="https://doi.org/10.1007/s10038-007-0184-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17899313">Taylor et al. (2007)</a> identified a 1-bp deletion (1219delA) in exon 8 of the LAMP2 gene, resulting in a frameshift at codon 361 predicted to obliterate the carboxy sequences for both the lysosomal transmembrane and lysosomal targeting domains. The mutation was present in all affected individuals and obligate carriers tested, and was not found in over 300 control chromosomes. The patients had dilated and hypertrophic cardiomyopathy, cardiac preexcitation, and skeletal myopathy with elevated CK levels. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8504498+17899313" 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>.0013 DANON DISEASE</strong>
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LAMP2, IVS6DS, A-G, +4
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs2147281356 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2147281356;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=rs2147281356" 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=rs2147281356" 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=RCV001731008" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001731008" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001731008</a>
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<p>In 4 males and 3 females from a family with variable features of Danon disease (<a href="/entry/300257">300257</a>), <a href="#19" class="mim-tip-reference" title="Roos, J. C. P., Daniels, M. J., Morris, E., Hyry, H. I., Cox, T. M. <strong>Heterogeneity in a large pedigree with Danon disease: implications for pathogenesis and management.</strong> Molec. Genet. Metab. 123: 177-183, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28822614/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28822614</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28822614[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.2017.06.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28822614">Roos et al. (2018)</a> identified hemizygosity or heterozygosity for a splicing mutation in the LAMP2 gene. Skipping of exon 6 was confirmed by sequencing of LAMP2 cDNA in fibroblasts from the proband. LAMP2 expression was decreased in patient fibroblasts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28822614" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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[<a href="https://doi.org/10.1056/NEJMoa033349" target="_blank">Full Text</a>]
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Bird, A. P.
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Blair, H. J., Ho, M., Monaco, A. P., Fisher, S., Craig, I. W., Boyd, Y.
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<strong>High-resolution comparative mapping of the proximal region of the mouse X chromosome.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8530041/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8530041</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8530041" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.1995.1146" target="_blank">Full Text</a>]
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Byrne, E., Dennett, X., Crotty, B., Trounce, I., Sands, J. M., Hawkins, R., Hammond, J., Anderson, S., Haan, E. A., Pollard, A.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3087571/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3087571</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3087571" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/brain/109.3.523" target="_blank">Full Text</a>]
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Charron, P., Villard, E., Sebillon, P., Laforet, P., Maisonobe, T., Duboscq-Bidot, L., Romero, N., Drouin-Garraud, V., Frebourg, T., Richard, P., Eymard, B., Komajda, M.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15253947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15253947</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15253947[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=15253947" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/hrt.2003.029504" target="_blank">Full Text</a>]
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Danon, M. J., Oh, S. J., DiMauro, S., Manaligod, J. R., Eastwood, A., Naidu, S., Schliselfeld, L. H.
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<strong>Lysosomal glycogen storage disease with normal acid maltase.</strong>
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Neurology 31: 51-57, 1981.
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<a id="Dworzak1994" class="mim-anchor"></a>
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Dworzak, F., Casazza, F., Mora, C. M., De Maria, R., Gronda, E., Baroldi, G., Rimoldi, M., Morandi, L., Cornelio, F.
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[<a href="https://doi.org/10.1016/0960-8966(94)90025-6" target="_blank">Full Text</a>]
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Fukuda, M., Viitala, J., Matteson, J., Carlsson, S. R.
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Kain, R., Exner, M., Brandes, R., Ziebermayr, R., Cunningham, D., Alderson, C. A., Davidovits, A., Raab, I., Jahn, R., Ashour, O., Spitzauer, S., Sunder-Plassmann, G., Fukuda, M., Klemm, P., Rees, A. J., Kerjaschki, D.
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[<a href="https://doi.org/10.1038/nm.1874" target="_blank">Full Text</a>]
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Konecki, D. S., Foetisch, K., Schlotter, M., Lichter-Konecki, U.
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[<a href="https://doi.org/10.1006/bbrc.1994.2620" target="_blank">Full Text</a>]
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Konecki, D. S., Foetisch, K., Zimmer, K.-P., Schlotter, M., Lichter-Konecki, U.
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<strong>An alternatively spliced form of the human lysosome-associated membrane protein-2 gene is expressed in a tissue-specific manner.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7488019/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7488019</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7488019" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/bbrc.1995.2528" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/327336a0" target="_blank">Full Text</a>]
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<strong>The nucleotide sequence of a CpG island demonstrates the presence of the first exon of the gene encoding the human lysosomal membrane protein LAMP2 and assigns the gene to Xq24.</strong>
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[<a href="https://doi.org/10.1016/0888-7543(91)90424-d" target="_blank">Full Text</a>]
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<strong>Two human lysosomal membrane glycoproteins, h-lamp-1 and h-lamp-2, are encoded by genes localized to chromosome 13q34 and chromosome Xq24-25, respectively.</strong>
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<strong>Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in the Lamp-2 gene.</strong>
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[<a href="https://doi.org/10.1016/j.nmd.2005.02.008" target="_blank">Full Text</a>]
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Nishino, I., Fu, J., Tanji, K., Yamada, T., Shimojo, S., Koori, T., Mora, M., Riggs, J. E., Oh, S. J., Koga, Y., Sue, C. M., Yamamoto, A., Murakami, N., Shanske, S., Byrne, E., Bonilla, E., Nonaka, I., DiMauro, S., Hirano, M.
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<strong>Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10972294/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10972294</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10972294" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/35022604" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/wnl.33.7.873" target="_blank">Full Text</a>]
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<a id="Roos2018" class="mim-anchor"></a>
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Roos, J. C. P., Daniels, M. J., Morris, E., Hyry, H. I., Cox, T. M.
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<strong>Heterogeneity in a large pedigree with Danon disease: implications for pathogenesis and management.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28822614/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28822614</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28822614[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=28822614" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ymgme.2017.06.008" target="_blank">Full Text</a>]
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<a id="Schleutker1991" class="mim-anchor"></a>
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[<a href="https://doi.org/10.1007/BF00204936" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12112061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12112061</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12112061" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ana.10235" target="_blank">Full Text</a>]
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Tanaka, Y., Guhde, G., Suter, A., Eskelinen, E.-L., Hartmann, D., Lullmann-Rauch, R., Janssen, P. M. L., Blanz, J., von Figura, K., Saftig, P.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10972293/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10972293</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10972293" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/35022595" target="_blank">Full Text</a>]
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Taylor, M. R. G., Ku, L., Slavov, D., Cavanaugh, J., Boucek, M., Zhu, X., Graw, S., Carniel, E., Barnes, C., Quan, D., Prall, R., Lovell, M. A., Mierau, G., Ruegg, P., Mandava, N., Bristow, M. R., Towbin, J. A., Mestroni, L.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17899313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17899313</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17899313" 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/s10038-007-0184-8" target="_blank">Full Text</a>]
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Towbin, J. A., Hejtmancik, J. F., Brink, P., Gelb, B., Zhu, X. M., Chamberlain, J. S., McCabe, E. R. B., Swift, M.
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<strong>X-linked dilated cardiomyopathy: molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8504498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8504498</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8504498" 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/10.1161/01.cir.87.6.1854" target="_blank">Full Text</a>]
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Hilary J. Vernon - updated : 10/15/2021
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Ada Hamosh - updated : 11/12/2008<br>Marla J. F. O'Neill - updated : 3/20/2008<br>Marla J. F. O'Neill - updated : 9/6/2007<br>Cassandra L. Kniffin - updated : 7/27/2005<br>Victor A. McKusick - updated : 3/3/2005<br>Victor A. McKusick - updated : 2/17/2005<br>Patricia A. Hartz - updated : 11/11/2004<br>Victor A. McKusick - updated : 9/18/2002<br>Ada Hamosh - updated : 8/31/2000
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Victor A. McKusick : 10/25/1990
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 309060
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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LYSOSOME-ASSOCIATED MEMBRANE PROTEIN 2; LAMP2
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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LYSOSOME-ASSOCIATED MEMBRANE PROTEIN B; LAMPB<br />
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LYSOSOMAL MEMBRANE GLYCOPROTEIN, 110-KD; LGP110<br />
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CD107B
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: LAMP2</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 419097006;
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<strong>ICD10CM:</strong> E74.05;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: Xq24
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Genomic coordinates <span class="small">(GRCh38)</span> : X:120,426,148-120,469,349 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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Xq24
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</span>
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</td>
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<td>
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<span class="mim-font">
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Danon disease
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</span>
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</td>
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<td>
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<span class="mim-font">
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300257
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</span>
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</td>
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<td>
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<span class="mim-font">
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X-linked dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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|
3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The lysosomal membrane plays a vital role in the function of lysosomes by sequestering numerous acid hydrolases that are responsible for the degradation of foreign materials and for specialized autolytic functions. LAMP1 (153330) and LAMP2 are glycoproteins that constitute a significant fraction of the total lysosomal membrane glycoproteins. Both consist of polypeptides of about 40 kD, with 16 to 20 N-linked saccharides attached to the core polypeptides (Fukuda et al., 1988). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Fukuda et al. (1988) isolated human cDNAs encoding LAMP1 and LAMP2. </p><p>Using mouse Lgp110 to screen a human liver cDNA library, Konecki et al. (1994) cloned LAMP2. Sequencing analysis indicated that there are 4 polyadenylation signals in the 3-prime UTR, with the second being the most frequently used. The deduced 410-amino acid protein contains a leader sequence; a luminal domain consisting of 2 homologous domains with 4 identically spaced cysteines linked by 2 disulfide bonds; a 20-amino acid transmembrane region; and a short cytoplasmic tail containing the lysosomal membrane targeting signal. The protein is heavily N-glycosylated. </p><p>By screening human liver and pheochromocytoma cDNA libraries, Konecki et al. (1995) identified a LAMP2 variant, which they called LAMP2B, that results from alternative splicing of exon 9. They designated the variant reported by Konecki et al. (1994) as LAMP2A. The deduced LAMP2B protein contains 410 amino acids, like the LAMP2A protein, but its C-terminal sequence differs in the last 11 amino acids of the luminal domain, the transmembrane domain, and the cytoplasmic tail. LAMP2B retains the lysosomal targeting signal, gly-tyr-x-x, and has the same number of potential glycosylation sites as LAMB2A. The LAMP2B variant has 3 polyadenylation signals in the 3-prime UTR. Using a common 5-prime LAMP2 sequence as probe for Northern blot analysis, Konecki et al. (1995) identified 6 major LAMP2 transcripts in liver and 4 major transcripts in pheochromocytoma mRNA. By Northern blot analysis using LAMP2B-specific probes, they detected highest expression of LAMP2B in skeletal muscle, with very low expression in liver. LAMP2B was also expressed in fibroblasts and fetal liver. Northern blot analysis using LAMP2A-specific probes detected highest LAMP2A expression in placenta, lung, and liver, with much lower expression in skeletal muscle. Immunoelectron microscopy localized LAMP2 primarily on the luminal side of endocytic organelles. No labeling of the plasma membrane was observed. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Gene Function</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>LAMP2 is thought to protect the lysosomal membrane from proteolytic enzymes within lysosomes and to act as a receptor for proteins to be imported into lysosomes (Fukuda, 1994). </p><p>Kain et al. (2008) found that virtually all individuals with pauci-immune focal necrotizing glomerulonephritis (FNGN) had autoantibodies against LAMP2 and that autoantibodies against LAMP2 caused this disease when injected into rats. A monoclonal antibody to human LAMP2 induced apoptosis of human microvascular endothelium in vitro. The autoantibodies in individuals with pauci-immune FNGN commonly recognize a human LAMP2 epitope with 100% homology to the bacterial adhesin FimH, with which they crossreact. Rats immunized with FimH developed pauci-immune FNGN and also developed antibodies to rat and human LAMP2. Finally, Kain et al. (2008) showed that infections with fimbriated pathogens are common before the onset of FNGN. Thus, Kain et al. (2008) concluded that FimH-triggered autoimmunity to LAMP2 provides a previously undescribed clinically relevant molecular mechanism for the development of pauci-immune FNGN. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
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<p>Konecki et al. (1995) determined that the LAMP2 gene contains 9 coding exons, with 2 alternate last exons, 9a and 9b. </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">
|
|
<strong>Mapping</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>By in situ hybridization, Mattei et al. (1990) mapped the LAMP2 gene to Xq24-q25. This was taken to support the view that LAMP1 and LAMP2 diverged relatively early in evolution and that they have distinct functions which emerged as soon as eukaryotic cells acquired lysosomes as subcellular compartments. </p><p>Isolation and identification of human genes can be helped by isolation of cDNA clones, identification of DNA fragments conserved in distant species, and direct sequence analysis. Identification of CpG islands is an additional tool. CpG islands, unmethylated tracts of DNA that are 0.5 to 2 kb long and very rich in G+C and in the dinucleotide CpG, are located in the 5-prime region of all sequenced housekeeping genes and of many tissue-specific genes (Bird, 1987). The lack of methylation of CpG islands makes them a preferential site of cleavage for methylation-sensitive restriction enzymes with one or more CpGs in their recognition site, such as HpaII, EagI, SacII, BssHII, and NotI. Lindsay and Bird (1987) demonstrated the usefulness of CpG islands as landmarks for identifying genes. In an EagI-EcoRI library of the distal long arm of the human X chromosome, Manoni et al. (1991) found a clone that mapped to Xq24 (by hybridization with a panel of human-hamster cell hybrids carrying deletions of different portions of the human X chromosome between Xq24 and Xqter). Using Southern hybridization and hamster/human hybrid cell panels, Schleutker et al. (1991) confirmed the localization of the LAMP2 gene on the X chromosome. In the course of high-resolution comparative mapping of the proximal region of the mouse X chromosome, Blair et al. (1995) demonstrated the location of the Lamp2 gene in relation to others. </p>
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|
</span>
|
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<div>
|
|
<br />
|
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</div>
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<div>
|
|
<h4>
|
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<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
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</span>
|
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</h4>
|
|
</div>
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<span class="mim-text-font">
|
|
<p>In 10 patients with Danon disease (300257), Nishino et al. (2000) identified mutations in the LAMP2 gene (see, e.g., 309060.0001-309060.0006). </p><p>Charron et al. (2004) analyzed the LAMP2 gene in 50 patients diagnosed with hypertrophic cardiomyopathy (CMH; see 192600) who were negative for mutations in 9 sarcomeric genes and did not have autosomal dominant inheritance. The authors identified 2 different mutations in the LAMP2 gene (309060.0008 and 309060.0009)in 2 patients, both of whom had skeletal muscle weakness on examination and PAS-positive sarcoplasmic vacuoles on skeletal muscle biopsy by light microscopy. </p><p>LAMP2 mutations typically cause multisystem Danon disease, which can also present as a primary cardiomyopathy. In genetic analyses of 24 subjects with increased left ventricular wall thickness and electrocardiogram suggesting ventricular preexcitation, Arad et al. (2005) found 4 LAMP2 mutations (see, e.g., 309060.0010) and 7 PRKAG2 (602743) mutations. Clinical features associated with defects in LAMP2 included male sex, severe hypertrophy, early onset (at 8 to 17 years of age), ventricular preexcitation, and asymptomatic elevations of 2 serum proteins. Mutations in heterozygous state appeared to be responsible for unusual heart disease in some females. </p><p>In a family (XLCM-2) that presented with dilated cardiomyopathy and was linked to the dystrophin gene (300377) by Towbin et al. (1993), Taylor et al. (2007) identified a mutation in the LAMP2 gene (309060.0012), confirming a diagnosis of Danon disease. </p><p>Roos et al. (2018) identified hemizygosity or heterozygosity for a splicing mutation in the LAMP2 gene (309060.0013) in 4 males and 3 females from a family with variable features of Danon disease. LAMP2 expression was decreased in fibroblasts from the proband. </p>
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|
</span>
|
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<div>
|
|
<br />
|
|
</div>
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<div>
|
|
<h4>
|
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<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
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<span class="mim-text-font">
|
|
<p>Tanaka et al. (2000) generated mice deficient in Lamp2 by targeted disruption. Lamp2 knockout mice showed elevated mortality and reduced weight compared with their wildtype littermates. About 50% of Lamp2-deficient animals died between postnatal days 20 and 40, independent of sex and genetic background (C57B6/Jx129SV and 129SV). In addition, Lamp2-deficient mice were smaller than wildtype mice. Surviving mice were fertile and had an almost normal life span. Ultrastructurally, there was extensive accumulation of autophagic vacuoles in many tissues, including liver, pancreas, spleen, kidney, and skeletal and heart muscle. In hepatocytes, the autophagic degradation of long-lived proteins was severely impaired. Cardiac myocytes were ultrastructurally abnormal and heart contractility was severely reduced. These findings indicated that LAMP2 is critical for autophagy. This theory was further substantiated by the finding that human LAMP2 deficiency, which causes Danon disease, is associated with the accumulation of autophagic material in striated myocytes. </p>
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|
</span>
|
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<div>
|
|
<br />
|
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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>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>13 Selected Examples):</strong>
|
|
</span>
|
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</h4>
|
|
<div>
|
|
<p />
|
|
</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>.0001 DANON DISEASE</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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LAMP2, 2-BP DEL, 1097AA
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<br />
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|
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SNP: rs2147277541,
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ClinVar: RCV001940156
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Japanese male (patient 1) with Danon disease (300257) diagnosed after muscle biopsy, Nishino et al. (2000) identified a 2-bp deletion (1097delAA) in exon 9b of the LAMP2 gene, resulting in a frameshift. </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>.0002 DANON DISEASE</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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LAMP2, LEU113TER
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<br />
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SNP: rs137852527,
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ClinVar: RCV000010655
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Japanese male (patient 2) with Danon disease (300257), Nishino et al. (2000) identified a 440T-A transversion in the LAMP2 gene, resulting in a leu113-to-ter (L113X) substitution. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>.0003 DANON DISEASE</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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LAMP2, IVS6DS, G-C, +5
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<br />
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|
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SNP: rs1352584474,
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ClinVar: RCV000010656
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|
|
|
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</span>
|
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</div>
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|
|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Japanese male (patient 3) with Danon disease (300257), Nishino et al. (2000) identified a G-to-C transversion at the +5 position of intron 6 of the LAMP2 gene. This mutation resulted in the skipping of exon 6. </p>
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|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0004 DANON DISEASE</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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LAMP2, 1-BP INS, 974A
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<br />
|
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ClinVar: RCV000010657
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|
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</span>
|
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</div>
|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In an Italian male (patient 4) with Danon disease (300257), Nishino et al. (2000) identified a 1-bp insertion (974insA) in exon 8 of the LAMP2 gene, resulting in a frameshift. This patient was initially described by Dworzak et al. (1994). </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>.0005 DANON DISEASE</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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LAMP2, IVS5DS, G-A, +1
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<br />
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SNP: rs1251075016,
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ClinVar: RCV000010658, RCV002381247
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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 affected males from 3 different families with Danon disease (300257), Nishino et al. (2000) identified a 6-bp insertion at the junctions of exons 5 and 6 of the LAMP2 gene. The inserted nucleotides had the same sequence as the 5-prime end of intron 5. Conceivably, nucleotides 7 and 8 (GT) immediately after the inserted sequence in intron 5 were recognized as an alternative splice donor site. The inserted sequence encoded an in-frame stop codon, which predicted premature termination of the nascent polypeptide. This mutation was found in a Japanese family (patient 6), an African American family (patient 7), and an Anglo-Saxon family (patient 8). The African American family was originally reported by Danon et al. (1981), and the Anglo-Saxon family had been reported by Riggs et al. (1983). </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>.0006 DANON DISEASE</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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LAMP2, 1-BP DEL, 14G
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<br />
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SNP: rs1183994410,
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ClinVar: RCV000010659
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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 male patient (patient 9) from a large Greek family with Danon disease (300257) initially reported by Byrne et al. (1986), Nishino et al. (2000) identified a 1-bp deletion (14delG) in exon 1 of the LAMP2 gene, resulting in a frameshift. </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>.0007 DANON DISEASE</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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LAMP2, 1-BP INS, 883T
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<br />
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SNP: rs1327363415,
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ClinVar: RCV000010660
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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>Takahashi et al. (2002) described a brother and sister with Danon disease (300257) who had 1-bp insertion (883insT) in the LAMP2 gene. The mutation was not detected in their mother's peripheral blood or buccal cells, thus indicating germline mosaicism. The proband was a 7-year-old boy with normal early motor and cognitive development, found to have an abnormal EKG and elevated blood creatinine kinase. EKG indicated left ventricular hypertrophy, confirmed by echocardiogram. Neurologic examination showed normal mentation and mild weakness of the neck muscles. He attended regular school. The 6-year-old sister had developed normally and had an unremarkable clinical examination, but on EKG showed left ventricular hypertrophy and by echocardiogram hypertrophic cardiomyopathy. </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>.0008 DANON DISEASE</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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LAMP2, 7-BP DEL
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<br />
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SNP: rs1436181133,
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ClinVar: RCV000010661
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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 24-year-old male with Danon disease (300257), Charron et al. (2004) identified a 7-bp deletion (173del7) in the LAMP2 gene, resulting in a frameshift and a premature stop at codon 17. The patient's mother also carried the mutation; 3 of her brothers and her mother had premature cardiac deaths at ages ranging from 7 to 34 years. The patient had markedly decreased left ventricular function with an ejection fraction of 20%, mild distal muscle weakness, mild amyotrophy of the lower limbs with pes cavus, and no mental retardation; he also had severe decreased visual acuity bilaterally, due to choriocapillary atrophy. He died of heart failure at 25 years of age while awaiting transplantation. </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>.0009 DANON DISEASE</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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LAMP2, GLN174TER
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<br />
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SNP: rs104894857,
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ClinVar: RCV000010662
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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 patient with Danon disease (300257), Charron et al. (2004) identified a de novo 657C-T transition in exon 4 of the LAMP2 gene, resulting in a gln174-to-ter (Q174X) substitution. The patient was diagnosed at age 14 years because of syncope, at which time ECG revealed normal sinus rhythm with high QRS voltage and Wolff-Parkinson-White syndrome and echocardiography showed increased left ventricular wall thickness with no outflow tract gradient and a normal ejection fraction. He had mild skeletal weakness but no mental retardation or ophthalmic abnormality. At 22 years of age, he underwent cardiac transplantation due to severe heart failure and died in the postoperative period. </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>.0010 DANON DISEASE</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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LAMP2, VAL310ILE
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<br />
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SNP: rs104894858,
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ClinVar: RCV000010663, RCV000157981, RCV000844638, RCV002371769
|
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|
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</span>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In a male proband with Danon disease (300257), described as glycogen storage disease presenting as hypertrophic cardiomyopathy, Arad et al. (2005) found a 928G-A transition in the LAMP2 gene that resulted in a val310-to-ile (V310I) amino acid substitution. The mutation affected RNA processing and hence produced a frameshift (K289FS). Genetic studies demonstrated mosaicism: both mutant and wildtype LAMP2 sequences were identified despite a normal XY karyotype. </p>
|
|
</span>
|
|
</div>
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<div>
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|
<br />
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</div>
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</div>
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<div>
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 DANON DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
LAMP2, TRP321ARG
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|
|
<br />
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|
|
SNP: rs104894859,
|
|
|
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|
|
|
|
ClinVar: RCV000010664
|
|
|
|
|
|
</span>
|
|
</div>
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a male patient with hypertrophic cardiomyopathy, exercise intolerance, and hyperCKemia consistent with a mild form of Danon disease (300257), Musumeci et al. (2005) identified a 961T-C transition in exon 8 of the LAMP2 gene, resulting in a trp321-to-arg (W321R) substitution in a highly conserved region of the protein. Muscle biopsy showed LAMP2 deficiency, PAS-positive sarcoplasmic vacuoles, and intense staining for complement C5b-9 membrane attack complex proteins within the vacuoles. The patient did not have muscle weakness or mental retardation. Musumeci et al. (2005) stated that this was the first missense mutation reported in the LAMP2 gene. </p>
|
|
</span>
|
|
</div>
|
|
|
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|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 DANON DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LAMP2, 1-BP DEL, 1219A
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1436664364,
|
|
|
|
|
|
|
|
ClinVar: RCV001783563
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a family with Danon disease (300257), originally studied by Towbin et al. (1993), Taylor et al. (2007) identified a 1-bp deletion (1219delA) in exon 8 of the LAMP2 gene, resulting in a frameshift at codon 361 predicted to obliterate the carboxy sequences for both the lysosomal transmembrane and lysosomal targeting domains. The mutation was present in all affected individuals and obligate carriers tested, and was not found in over 300 control chromosomes. The patients had dilated and hypertrophic cardiomyopathy, cardiac preexcitation, and skeletal myopathy with elevated CK levels. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 DANON DISEASE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
LAMP2, IVS6DS, A-G, +4
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2147281356,
|
|
|
|
|
|
|
|
ClinVar: RCV001731008
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 4 males and 3 females from a family with variable features of Danon disease (300257), Roos et al. (2018) identified hemizygosity or heterozygosity for a splicing mutation in the LAMP2 gene. Skipping of exon 6 was confirmed by sequencing of LAMP2 cDNA in fibroblasts from the proband. LAMP2 expression was decreased in patient fibroblasts. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
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|
|
|
</div>
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
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</h4>
|
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<div>
|
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<p />
|
|
</div>
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<div>
|
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<ol>
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<li>
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<p class="mim-text-font">
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Arad, M., Maron, B. J., Gorham, J. M., Johnson, W. H., Jr., Saul, J. P., Perez-Atayde, A. R., Spirito, P., Wright, G. B., Kanter, R. J., Seidman, C. E., Seidman, J. G.
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<strong>Glycogen storage diseases presenting as hypertrophic cardiomyopathy.</strong>
|
|
New Eng. J. Med. 352: 362-372, 2005.
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[PubMed: 15673802]
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[Full Text: https://doi.org/10.1056/NEJMoa033349]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Bird, A. P.
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<strong>HTF islands as gene markers in the vertebrate nucleus.</strong>
|
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Trends Genet. 3: 342-347, 1987.
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<p class="mim-text-font">
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Blair, H. J., Ho, M., Monaco, A. P., Fisher, S., Craig, I. W., Boyd, Y.
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<strong>High-resolution comparative mapping of the proximal region of the mouse X chromosome.</strong>
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Genomics 28: 305-310, 1995.
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[PubMed: 8530041]
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[Full Text: https://doi.org/10.1006/geno.1995.1146]
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<p class="mim-text-font">
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Byrne, E., Dennett, X., Crotty, B., Trounce, I., Sands, J. M., Hawkins, R., Hammond, J., Anderson, S., Haan, E. A., Pollard, A.
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<strong>Dominantly inherited cardioskeletal myopathy with lysosomal glycogen storage and normal acid maltase levels.</strong>
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Brain 109: 523-536, 1986.
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[PubMed: 3087571]
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[Full Text: https://doi.org/10.1093/brain/109.3.523]
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</p>
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<li>
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<p class="mim-text-font">
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Charron, P., Villard, E., Sebillon, P., Laforet, P., Maisonobe, T., Duboscq-Bidot, L., Romero, N., Drouin-Garraud, V., Frebourg, T., Richard, P., Eymard, B., Komajda, M.
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<strong>Danon's disease as a cause of hypertrophic cardiomyopathy: a systematic survey.</strong>
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Heart 90: 842-846, 2004.
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[PubMed: 15253947]
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[Full Text: https://doi.org/10.1136/hrt.2003.029504]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Danon, M. J., Oh, S. J., DiMauro, S., Manaligod, J. R., Eastwood, A., Naidu, S., Schliselfeld, L. H.
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<strong>Lysosomal glycogen storage disease with normal acid maltase.</strong>
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Neurology 31: 51-57, 1981.
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[PubMed: 6450334]
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[Full Text: https://doi.org/10.1212/wnl.31.1.51]
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<li>
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<p class="mim-text-font">
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Dworzak, F., Casazza, F., Mora, C. M., De Maria, R., Gronda, E., Baroldi, G., Rimoldi, M., Morandi, L., Cornelio, F.
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<strong>Lysosomal glycogen storage with normal acid maltase: a familial study with successful heart transplant.</strong>
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Neuromusc. Disord. 4: 243-247, 1994.
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[PubMed: 7919972]
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[Full Text: https://doi.org/10.1016/0960-8966(94)90025-6]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Fukuda, M., Viitala, J., Matteson, J., Carlsson, S. R.
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<strong>Cloning of the cDNAs encoding human lysosomal membrane glycoproteins, h-lamp-1 and h-lamp-2: comparison of their deduced amino acid sequences.</strong>
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J. Biol. Chem. 263: 18920-18928, 1988.
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[PubMed: 3198605]
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<p class="mim-text-font">
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Fukuda, M.
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<strong>Biogenesis of the lysosomal membrane.</strong>
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Subcell. Biochem. 22: 199-230, 1994.
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[PubMed: 8146882]
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[Full Text: https://doi.org/10.1007/978-1-4615-2401-4_7]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Kain, R., Exner, M., Brandes, R., Ziebermayr, R., Cunningham, D., Alderson, C. A., Davidovits, A., Raab, I., Jahn, R., Ashour, O., Spitzauer, S., Sunder-Plassmann, G., Fukuda, M., Klemm, P., Rees, A. J., Kerjaschki, D.
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<strong>Molecular mimicry in pauci-immune focal necrotizing glomerulonephritis.</strong>
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Nature Med. 14: 1088-1096, 2008.
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[PubMed: 18836458]
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[Full Text: https://doi.org/10.1038/nm.1874]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Konecki, D. S., Foetisch, K., Schlotter, M., Lichter-Konecki, U.
|
|
<strong>Complete cDNA sequence of human lysosome-associated membrane protein-2.</strong>
|
|
Biochem. Biophys. Res. Commun. 205: 1-5, 1994.
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|
|
[PubMed: 7999007]
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|
|
|
|
|
[Full Text: https://doi.org/10.1006/bbrc.1994.2620]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Konecki, D. S., Foetisch, K., Zimmer, K.-P., Schlotter, M., Lichter-Konecki, U.
|
|
<strong>An alternatively spliced form of the human lysosome-associated membrane protein-2 gene is expressed in a tissue-specific manner.</strong>
|
|
Biochem. Biophys. Res. Commun. 215: 757-767, 1995.
|
|
|
|
|
|
[PubMed: 7488019]
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|
|
|
|
|
[Full Text: https://doi.org/10.1006/bbrc.1995.2528]
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</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Lindsay, S., Bird, A. P.
|
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<strong>Use of restriction enzymes to detect potential gene sequences in mammalian DNA.</strong>
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