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Entry
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- #605820 - NONAKA MYOPATHY; NM
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- OMIM
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<p>
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<span class="h4">#605820</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/605820"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS160500"> <strong>Phenotypic Series</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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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#nomenclature">Nomenclature</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#mapping">Mapping</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#history">History</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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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 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=" 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 in 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://clinicaltrials.gov/search?cond=NONAKA MYOPATHY" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=8729&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1262/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/5252" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/gne-myopathy" 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=605820[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><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=602" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="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/disease/DOID:0080718" 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="http://www.informatics.jax.org/disease/605820" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></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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<a id="title" class="mim-anchor"></a>
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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> 702382000<br />
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<strong>ORPHA:</strong> 602<br />
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<strong>DO:</strong> 0080718<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="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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605820
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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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NONAKA MYOPATHY; NM
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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">
|
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NONAKA DISTAL MYOPATHY<br />
|
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MYOPATHY, DISTAL, WITH OR WITHOUT RIMMED VACUOLES<br />
|
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INCLUSION BODY MYOPATHY, HEREDITARY, AUTOSOMAL RECESSIVE; HIBM<br />
|
|
INCLUSION BODY MYOPATHY, QUADRICEPS-SPARING; QSM<br />
|
|
GNE MYOPATHY<br />
|
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INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE, FORMERLY; IBM2, FORMERLY
|
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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="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene 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 table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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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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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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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>
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<span class="mim-font">
|
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<a href="/geneMap/9/187?start=-3&limit=10&highlight=187">
|
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9p13.3
|
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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Nonaka myopathy
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/605820"> 605820 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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GNE
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/603824"> 603824 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/605820" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<a href="/phenotypicSeries/PS160500" class="btn btn-info" role="button"> Phenotypic Series </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/605820" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/605820" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<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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<div>
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<p />
|
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> MUSCLE, SOFT TISSUES </strong>
|
|
</span>
|
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</div>
|
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<div style="margin-left: 2em;">
|
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|
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<div>
|
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<span class="mim-font">
|
|
|
|
- Distal muscle weakness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249942005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249942005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0427065&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0427065</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002460" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002460</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002460" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002460</a>]</span><br /> -
|
|
Distal muscle atrophy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848736&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848736</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003693" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003693</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003693" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003693</a>]</span><br /> -
|
|
Hamstring muscle affected <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853929&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853929</a>]</span><br /> -
|
|
Tibialis anterior muscle affected <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853930&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853930</a>]</span><br /> -
|
|
Quadriceps muscle spared <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853931&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853931</a>]</span><br /> -
|
|
Myopathic changes seen on EMG <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3276190&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3276190</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/129565002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">129565002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G72.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G72.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M62.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M62.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M60-M63" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M60-M63</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/359.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">359.9</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003198" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003198</a>]</span><br /> -
|
|
'Rimmed' vacuoles on biopsy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853932&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853932</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003805" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003805</a>]</span><br /> -
|
|
Tubulofilamentous nuclear or cytoplasmic inclusions on biopsy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853933&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853933</a>]</span><br /> -
|
|
Deposits immunoreactive to beta-amyloid protein <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853934&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853934</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003791" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003791</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003791" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003791</a>]</span><br /> -
|
|
Congophilic amyloid material <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853935&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853935</a>]</span><br /> -
|
|
Inflammatory cells absent <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853936&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853936</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Gait abnormalities <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22325002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22325002</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/781.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">781.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0575081&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0575081</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001288" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001288</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001288" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001288</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Increased creatine phosphokinase (CPK) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/432352001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">432352001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151576&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151576</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003236" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003236</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
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|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Onset in early adulthood (average 26 years) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853562&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853562</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003581" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003581</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003581" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003581</a>]</span><br /> -
|
|
Wheelchair-bound average 12 years after onset<br />
|
|
|
|
</span>
|
|
</div>
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|
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</div>
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</div>
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene (GNE, <a href="/entry/603824#0012">603824.0012</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
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</div>
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</div>
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<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
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</div>
|
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</div>
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
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<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Myopathy, distal
|
|
- <a href="/phenotypicSeries/PS160500">PS160500</a>
|
|
- 10 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
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|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
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<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
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</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
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</th>
|
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Phenotype<br />MIM number</strong>
|
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</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Gene/Locus</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Gene/Locus<br />MIM number</strong>
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</th>
|
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</tr>
|
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</thead>
|
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<tbody>
|
|
|
|
<tr>
|
|
<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1828?start=-3&limit=10&highlight=1828"> 1q43 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618655"> Myopathy, distal, 6, adult onset </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618655"> 618655 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/102573"> ACTN2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/102573"> 102573 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/333?start=-3&limit=10&highlight=333"> 2p13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604454"> Welander distal myopathy </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604454"> 604454 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603518"> TIA1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603518"> 603518 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/351?start=-3&limit=10&highlight=351"> 2p13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606768"> Myopathy, distal, with anterior tibial onset </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606768"> 606768 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603009"> DYSF </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603009"> 603009 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/27?start=-3&limit=10&highlight=27"> 3p25.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614321"> Myopathy, distal, Tateyama type </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614321"> 614321 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601253"> CAV3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601253"> 601253 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/659?start=-3&limit=10&highlight=659"> 7q32.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614065"> Myopathy, distal, 4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614065"> 614065 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/102565"> FLNC </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/102565"> 102565 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/187?start=-3&limit=10&highlight=187"> 9p13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605820"> Nonaka myopathy </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605820"> 605820 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603824"> GNE </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603824"> 603824 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/462?start=-3&limit=10&highlight=462"> 12q13.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610099"> ?Myopathy, distal, 3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610099"> 610099 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/164017"> HNRNPA1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/164017"> 164017 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/92?start=-3&limit=10&highlight=92"> 14q11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/160500"> Laing distal myopathy </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/160500"> 160500 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/160760"> MYH7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/160760"> 160760 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/591?start=-3&limit=10&highlight=591"> 14q32.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617030"> Myopathy, distal, 5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617030"> 617030 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612498"> ADSS1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612498"> 612498 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/111?start=-3&limit=10&highlight=111"> Xp22.12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/301075"> Myopathy, distal, 7, adult-onset, X-linked </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/301075"> 301075 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300226"> SMPX </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300226"> 300226 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
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|
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<div class="text-right small">
|
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
|
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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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<br />
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</div>
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<div>
|
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that Nonaka myopathy (NM) is caused by homozygous or compound heterozygous mutation in the gene encoding UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE; <a href="/entry/603824">603824</a>) on chromosome 9p13.</p><p>Biallelic mutation in the GNE gene also causes congenital thrombocytopenia-12 with or without myopathy (THC12; <a href="/entry/620757">620757</a>), which shows overlapping clinical features.</p>
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</span>
|
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<div>
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<br />
|
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</div>
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</div>
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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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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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Nonaka myopathy (NM) is an autosomal recessive progressive adult-onset myopathy with a predeliction for distal muscle involvement, usually affecting the lower limbs and resulting in gait abnormalities or loss of ambulation. Some individuals may have involvement of the upper limbs or proximal muscles (<a href="#3" class="mim-tip-reference" title="Argov, Z., Eisenberg, I., Grabov-Nardini, G., Sadeh, M., Wirguin, I., Soffer, D., Mitrani-Rosenbaum, S. <strong>Hereditary inclusion body myopathy: the Middle Eastern genetic cluster.</strong> Neurology 60: 1519-1523, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12743242/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12743242</a>] [<a href="https://doi.org/10.1212/01.wnl.0000061617.71839.42" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12743242">Argov et al., 2003</a>). In rare cases (up to 2.5%), the myopathy can be associated with mild, asymptomatic thrombocytopenia, as observed in the allelic disorder THC12 (summary by <a href="#25" class="mim-tip-reference" title="Revel-Vilk, S., Shai, E., Turro, E., Jahshan, N., Hi-Am, E., Spectre, G., Daum, H., Kalish, Y., Althaus, K., Greinacher, A., Kaplinsky, C., Izraeli, S., Mapeta, R., Deevi, S. V. V., Jarocha, D., Ouwehand, W. H., Downes, K., Poncz, M., Varon, D., Lambert, M. P. <strong>GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting.</strong> Blood 132: 1851-1854, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30171045/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30171045</a>] [<a href="https://doi.org/10.1182/blood-2018-04-845545" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30171045">Revel-Vilk et al., 2018</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12743242+30171045" 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>Historically, the disorder has had several different names, including distal myopathy with rimmed vacuoles, inclusion body myopathy, and quadriceps-sparing myopathy. <a href="#13" class="mim-tip-reference" title="Huizing, M., Carrillo-Carrasco, N., Malicdan, M. C. V., Noguchi, S., Gahl, W. A., Mitrani-Rosenbaum, S., Argov, Z., Nishino, I. <strong>GNE myopathy: new name and new mutation nomenclature.</strong> Neuromusc. Disord. 24: 387-389, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24685570/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24685570</a>] [<a href="https://doi.org/10.1016/j.nmd.2014.03.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24685570">Huizing et al. (2014)</a> proposed using the term 'GNE myopathy' to refer to this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24685570" 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="#24" class="mim-tip-reference" title="Nonaka, I., Sunohara, N., Ishiura, S., Satoyoshi, E. <strong>Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation.</strong> J. Neurol. Sci. 51: 141-155, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7252518/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7252518</a>] [<a href="https://doi.org/10.1016/0022-510x(81)90067-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7252518">Nonaka et al. (1981)</a> described a form of muscular dystrophy with predilection for distal muscles, especially the anterior tibial muscles, and onset in early adulthood. The EMG demonstrated a myopathic pattern and creatine phosphokinase (CPK) was mildly elevated. Rapid clinical progression was observed. <a href="#24" class="mim-tip-reference" title="Nonaka, I., Sunohara, N., Ishiura, S., Satoyoshi, E. <strong>Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation.</strong> J. Neurol. Sci. 51: 141-155, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7252518/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7252518</a>] [<a href="https://doi.org/10.1016/0022-510x(81)90067-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7252518">Nonaka et al. (1981)</a> thought the disorder in their families was autosomal recessive. They stated that the disorder appears to be common in Japan. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7252518" 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="#2" class="mim-tip-reference" title="Argov, A., Yarom, R. <strong>'Rimmed vacuole myopathy' sparing the quadriceps: a unique disorder in Iranian Jews.</strong> J. Neurol. Sci. 64: 33-43, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6737002/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6737002</a>] [<a href="https://doi.org/10.1016/0022-510x(84)90053-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6737002">Argov and Yarom (1984)</a> described a 'rimmed vacuole myopathy' in Jews of Persian origin. The onset of this disorder usually occurred after the age of 20 years but before the middle of the fourth decade of life. Proximal and distal muscle weakness and wasting of the upper and lower limbs were progressive and resulted in severe incapacitation within 10 to 20 years. Despite this, there typically was sparing of the quadriceps muscles even in advanced stages of the disease, a feature unique to this form of inclusion body myopathy. It was not clear to the authors whether this disorder was primarily neurogenic or myopathic. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6737002" 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="#20" class="mim-tip-reference" title="Massa, R., Weller, B., Karpati, G., Shoubridge, E., Carpenter, S. <strong>Familial inclusion body myositis among Kurdish-Iranian Jews.</strong> Arch. Neurol. 48: 519-522, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1850594/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1850594</a>] [<a href="https://doi.org/10.1001/archneur.1991.00530170083024" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1850594">Massa et al. (1991)</a> reported 2 unrelated patients with IBM2, each from a family of Iranian-Kurdish-Jewish origin. The picture was that of adult-onset, slowly progressive limb-girdle muscle weakness with a remarkable sparing of quadriceps muscles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1850594" 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="#32" class="mim-tip-reference" title="Zlotogora, J. <strong>Hereditary disorders among Iranian Jews.</strong> Am. J. Med. Genet. 58: 32-37, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7573153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7573153</a>] [<a href="https://doi.org/10.1002/ajmg.1320580108" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7573153">Zlotogora (1995)</a> reported that rimmed vacuole myopathy had been identified in 19 subjects of Iranian Jewish extraction and 3 others, possibly of that origin. They cited the reports of <a href="#1" class="mim-tip-reference" title="Adam, A., Josefsberg, Z., Pertzelan, A., Zadik, Z., Chemke, J. M., Laron, Z. <strong>Occurrence of four types of growth hormone-related dwarfism in Israeli communities.</strong> Europ. J. Pediat. 137: 35-39, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7274298/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7274298</a>] [<a href="https://doi.org/10.1007/BF00441167" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7274298">Adam et al. (1981)</a>, <a href="#2" class="mim-tip-reference" title="Argov, A., Yarom, R. <strong>'Rimmed vacuole myopathy' sparing the quadriceps: a unique disorder in Iranian Jews.</strong> J. Neurol. Sci. 64: 33-43, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6737002/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6737002</a>] [<a href="https://doi.org/10.1016/0022-510x(84)90053-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6737002">Argov and Yarom (1984)</a>, and <a href="#27" class="mim-tip-reference" title="Sadeh, M., Gadoth, N., Hadar, H., Ben-David, E. <strong>Vacuolar myopathy sparing the quadriceps.</strong> Brain 116: 217-232, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8453459/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8453459</a>] [<a href="https://doi.org/10.1093/brain/116.1.217" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8453459">Sadeh et al. (1993)</a>. Muscular weakness usually appeared in the third decade as gait difficulties. Progression was gradual, and most patients became severely incapacitated a decade after onset. Ocular, pharyngeal, and cardiac muscles were not involved. The muscles of the shoulder girdle were severely affected in advanced cases, with relative sparing of the deltoid, biceps, and triceps. In the lower limbs, foot dorsiflexion was usually very weak at an early stage of the disease. When leg muscle weakness becomes widespread, the most characteristic finding becomes evident, namely sparing of the quadriceps. The quadriceps muscles stayed strong even in advanced stages of the disorder, and thus the patients were able to stand and walk until late in the course of the disease. Creatine kinase levels were normal or moderately elevated, and nerve conduction velocity was normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7573153+8453459+6737002+7274298" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Asaka, T., Ikeuchi, K., Okino, S., Takizawa, Y., Satake, R., Nitta, E., Komai, K., Endo, K., Higuchi, S., Oyake, T., Yoshimura, T., Suenaga, A., and 14 others. <strong>Homozygosity and linkage disequilibrium mapping of autosomal recessive distal myopathy (Nonaka distal myopathy).</strong> J. Hum. Genet. 46: 649-655, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11721884/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11721884</a>] [<a href="https://doi.org/10.1007/s100380170016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11721884">Asaka et al. (2001)</a> pointed out the unique distribution of muscular weakness and wasting in Nonaka distal myopathy. Although the hamstring and tibialis anterior muscles are affected severely by early adulthood, the quadriceps muscles are spared even in a late stage of the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11721884" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Pathologic Findings</em></strong></p><p>
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<a href="#24" class="mim-tip-reference" title="Nonaka, I., Sunohara, N., Ishiura, S., Satoyoshi, E. <strong>Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation.</strong> J. Neurol. Sci. 51: 141-155, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7252518/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7252518</a>] [<a href="https://doi.org/10.1016/0022-510x(81)90067-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7252518">Nonaka et al. (1981)</a> noted that a striking morphologic change on muscle biopsy was the presence of 'rimmed' vacuoles that had acid phosphatase-positive autophagocytic activity and contained numerous concentric lamellar bodies in various forms. There was almost no histologic sign of regeneration. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7252518" 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="#2" class="mim-tip-reference" title="Argov, A., Yarom, R. <strong>'Rimmed vacuole myopathy' sparing the quadriceps: a unique disorder in Iranian Jews.</strong> J. Neurol. Sci. 64: 33-43, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6737002/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6737002</a>] [<a href="https://doi.org/10.1016/0022-510x(84)90053-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6737002">Argov and Yarom (1984)</a> found that muscle biopsies from affected patients showed a rimmed vacuole myopathy and that the degenerating muscle fibers contained abnormal accumulations of beta-amyloid protein (<a href="/entry/104760">104760</a>) and other pathologic markers found in brain specimens from neurodegenerative disorders such as Alzheimer disease (see <a href="/entry/104300">104300</a>). However, there was no central nervous system disease in these patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6737002" 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="#20" class="mim-tip-reference" title="Massa, R., Weller, B., Karpati, G., Shoubridge, E., Carpenter, S. <strong>Familial inclusion body myositis among Kurdish-Iranian Jews.</strong> Arch. Neurol. 48: 519-522, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1850594/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1850594</a>] [<a href="https://doi.org/10.1001/archneur.1991.00530170083024" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1850594">Massa et al. (1991)</a> reported that muscle biopsies of affected patients showed abundant lined vacuoles and characteristic cytoplasmic inclusions of 15- to 18-nm filaments. Many vacuolated muscle fibers showed immunoreactivity to neural cell adhesion molecule (NCAM1; <a href="/entry/116930">116930</a>), a fetal muscle antigen. In muscle biopsies, <a href="#32" class="mim-tip-reference" title="Zlotogora, J. <strong>Hereditary disorders among Iranian Jews.</strong> Am. J. Med. Genet. 58: 32-37, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7573153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7573153</a>] [<a href="https://doi.org/10.1002/ajmg.1320580108" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7573153">Zlotogora (1995)</a> found many muscle fibers containing clefts or round vacuoles rimmed by granular material that stained basophilic on hematoxylin and eosin. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1850594+7573153" 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="#22" class="mim-tip-reference" title="Murakami, N., Ihara, Y., Nonaka, I. <strong>Muscle fiber degeneration in distal myopathy with rimmed vacuole formation.</strong> Acta Neuropath. 89: 29-34, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7709728/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7709728</a>] [<a href="https://doi.org/10.1007/BF00294256" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7709728">Murakami et al. (1995)</a> compared Congo red and immunohistochemical staining of 11 biopsies of distal myopathy with rimmed vacuoles to that of inclusion body myositis (IBM; <a href="/entry/147421">147421</a>). All biopsies had characteristic tubulofilamentous inclusions in their nuclei on electron microscopy. Similarly, all specimens had deposits immunoreactive for beta-amyloid protein, ubiquitin, and tau protein. Most DMRV and IBM specimens had Congophilic amyloid material. Indeed, only the presence of inflammatory cell infiltrates in IBM cases distinguished them from DMRV. The authors suggested that the degenerative process involved in rimmed vacuole formation may share a common pathogenetic mechanism with that in Alzheimer disease brain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7709728" 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 2 Japanese brothers with distal myopathy with rimmed vacuoles, confirmed by compound heterozygous mutations in the GNE gene, <a href="#31" class="mim-tip-reference" title="Yabe, I., Higashi, T., Kikuchi, S., Sasaki, H., Fukazawa, T., Yoshida, K., Tashiro, K. <strong>GNE mutations causing distal myopathy with rimmed vacuoles with inflammation.</strong> Neurology 61: 384-386, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12913203/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12913203</a>] [<a href="https://doi.org/10.1212/01.wnl.0000061520.63546.8f" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12913203">Yabe et al. (2003)</a> reported the presence of inflammatory cells in affected muscle biopsies. Immunohistochemical characterization detected CD8 T cells, fewer CD4 T cells and macrophages, and no B cells. The authors noted that the inflammatory cells are an unusual finding in this disorder, and are usually seen in familial IBM. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12913203" 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="#26" class="mim-tip-reference" title="Ricci, E., Broccolini, A., Gidaro, T., Morosetti, R., Gliubizzi, C., Frusciante, R., Di Lella, G. M., Tonali, P. A., Mirabella, M. <strong>NCAM is hyposialylated in hereditary inclusion body myopathy due to GNE mutations.</strong> Neurology 66: 755-758, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16534119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16534119</a>] [<a href="https://doi.org/10.1212/01.wnl.0000200956.76449.3f" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16534119">Ricci et al. (2006)</a> found that NCAM1 was hyposialylated in IBM2 muscle, as suggested by its decreased molecular weight on Western blot analysis. NCAM1 was identified as a discrete band of 130 kD in affected muscle compared to a broad band of 150 to 200 kD in other myopathies. NCAM1 was almost undetectable in normal control muscles, since it is usually detectable in regenerating fibers. <a href="#26" class="mim-tip-reference" title="Ricci, E., Broccolini, A., Gidaro, T., Morosetti, R., Gliubizzi, C., Frusciante, R., Di Lella, G. M., Tonali, P. A., Mirabella, M. <strong>NCAM is hyposialylated in hereditary inclusion body myopathy due to GNE mutations.</strong> Neurology 66: 755-758, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16534119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16534119</a>] [<a href="https://doi.org/10.1212/01.wnl.0000200956.76449.3f" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16534119">Ricci et al. (2006)</a> suggested that this specific abnormality could be used for diagnosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16534119" 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 muscle biopsies from 5 patients with IBM2, <a href="#17" class="mim-tip-reference" title="Krause, S., Aleo, A., Hinderlich, S., Merlini, L., Tournev, I., Walter, M. C., Argov, Z., Mitrani-Rosenbaum, S., Lochmuller, H. <strong>GNE protein expression and subcellular distribution are unaltered in HIBM.</strong> Neurology 69: 655-659, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17698786/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17698786</a>] [<a href="https://doi.org/10.1212/01.wnl.0000267426.97138.fd" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17698786">Krause et al. (2007)</a> found that the GNE protein was expressed at normal levels and showed normal localization, suggesting that the disorder results from impaired GNE function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17698786" 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 gene expression profiling of muscle specimens from 10 patients with the Persian Jewish founder GNE mutation M712T (<a href="/entry/603824#0005">603824.0005</a>) compared to controls, <a href="#10" class="mim-tip-reference" title="Eisenberg, I., Novershtern, N., Itzhaki, Z., Becker-Cohen, M., Sadeh, M., Willems, P. H. G. M., Friedman, N., Koopman, W. J. H., Mitrani-Rosenbaum, S. <strong>Mitochondrial processes are impaired in hereditary inclusion body myopathy.</strong> Hum. Molec. Genet. 17: 3663-3674, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18723858/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18723858</a>] [<a href="https://doi.org/10.1093/hmg/ddn261" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18723858">Eisenberg et al. (2008)</a> found that a large proportion (56 of 300, 18.6%) of differentially expressed mRNAs of known function in this disorder encoded proteins implicated in various mitochondrial processes. Morphologic analysis of mitochondria using video-rate confocal microscopy showed a high degree of mitochondrial branching in patient cells, which may represent compensatory mechanisms. The results indicated that dysregulation of mitochondrial pathways, such as apoptosis, may be involved in the pathophysiology of the disorder. <a href="#10" class="mim-tip-reference" title="Eisenberg, I., Novershtern, N., Itzhaki, Z., Becker-Cohen, M., Sadeh, M., Willems, P. H. G. M., Friedman, N., Koopman, W. J. H., Mitrani-Rosenbaum, S. <strong>Mitochondrial processes are impaired in hereditary inclusion body myopathy.</strong> Hum. Molec. Genet. 17: 3663-3674, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18723858/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18723858</a>] [<a href="https://doi.org/10.1093/hmg/ddn261" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18723858">Eisenberg et al. (2008)</a> suggested that these subtle changes may partially explain the slow evolution of the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18723858" 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="#13" class="mim-tip-reference" title="Huizing, M., Carrillo-Carrasco, N., Malicdan, M. C. V., Noguchi, S., Gahl, W. A., Mitrani-Rosenbaum, S., Argov, Z., Nishino, I. <strong>GNE myopathy: new name and new mutation nomenclature.</strong> Neuromusc. Disord. 24: 387-389, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24685570/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24685570</a>] [<a href="https://doi.org/10.1016/j.nmd.2014.03.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24685570">Huizing et al. (2014)</a> noted the many names that have been used for this disorder and suggested that the disorder be called 'GNE myopathy.' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24685570" 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="#26" class="mim-tip-reference" title="Ricci, E., Broccolini, A., Gidaro, T., Morosetti, R., Gliubizzi, C., Frusciante, R., Di Lella, G. M., Tonali, P. A., Mirabella, M. <strong>NCAM is hyposialylated in hereditary inclusion body myopathy due to GNE mutations.</strong> Neurology 66: 755-758, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16534119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16534119</a>] [<a href="https://doi.org/10.1212/01.wnl.0000200956.76449.3f" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16534119">Ricci et al. (2006)</a> found that NCAM1 (<a href="/entry/116930">116930</a>) was hyposialylated in HIBM muscle, as suggested by its increased electrophoretic mobility on Western blot analysis. NCAM1 was identified as a discrete band of 130 kD in affected muscle compared to a broad band of 150 to 200 kD in other myopathies. In a follow-up report, <a href="#5" class="mim-tip-reference" title="Broccolini, A., Gidaro, T., Tasca, G., Morosetti, R., Rodolico, C., Ricci, E., Mirabella, M. <strong>Analysis of NCAM helps identify unusual phenotypes of hereditary inclusion-body myopathy.</strong> Neurology 75: 265-272, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20644153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20644153</a>] [<a href="https://doi.org/10.1212/WNL.0b013e3181e8e8f1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20644153">Broccolini et al. (2010)</a> demonstrated that Western blot analysis of muscle NCAM1 could be used for diagnosis of HIBM in patients with unusual phenotypes. Three of 84 patients with proximal or distal muscle weakness were found to have a 130-kD NCAM1 band, and all 3 patients were subsequently found to have homozygous or compound heterozygous mutations in the GNE gene. These 3 patients had features not typical for inclusion body myopathy, including lack of rimmed vacuoles on biopsy, severe early onset, and mild, very late onset with distal muscle weakness, respectively. The hyposialylated NCAM1 was expressed by abnormal nonregenerating muscle fibers. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16534119+20644153" 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="#21" class="mim-tip-reference" title="Mitrani-Rosenbaum, S., Argov, Z., Blumenfeld, A., Seidman, C. E., Seidman, J. G. <strong>Hereditary inclusion body myopathy maps to chromosome 9p1-q1.</strong> Hum. Molec. Genet. 5: 159-163, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8789455/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8789455</a>] [<a href="https://doi.org/10.1093/hmg/5.1.159" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8789455">Mitrani-Rosenbaum et al. (1996)</a> performed linkage analyses in 9 Persian Jewish families selected for study because at least 1 member was previously diagnosed with hereditary IBM. Clinical studies provided evidence for autosomal recessive inheritance. A genomewide analysis demonstrated linkage to 9p1-q1 (D9S166); maximum lod score of 5.32 at theta = 0.0. <a href="#14" class="mim-tip-reference" title="Ikeuchi, T., Asaka, T., Saito, M., Tanaka, H., Higuchi, S., Tanaka, K., Saida, K., Uyama, E., Mizusawa, H., Fukuhara, N., Nonaka, I., Takamori, M., Tsuji, S. <strong>Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9.</strong> Ann. Neurol. 41: 432-437, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9124799/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9124799</a>] [<a href="https://doi.org/10.1002/ana.410410405" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9124799">Ikeuchi et al. (1997)</a> found linkage to 9p1-q1 in Japanese families with autosomal recessive distal myopathy (Nonaka myopathy), suggesting that NM and HIBM are allelic. <a href="#7" class="mim-tip-reference" title="Christodoulou, K., Papadopoulou, E., Tsingis, M., Askanas, V., Engel, W. K., McFerrin, J., Dalakas, M., Rowland, L. P., Mirabella, M., Middleton, L. T. <strong>Narrowing of the gene locus for autosomal-recessive quadriceps sparing inclusion-body myopathy (ARQS-IBM) to chromosome 9p1.</strong> Acta Myol. 2: 7-9, 1998."None>Christodoulou et al. (1998)</a> performed linkage analysis in 10 families, 6 of Iranian-Jewish origin and 4 from other ethnic groups, with autosomal recessive quadriceps-sparing inclusion body myopathy. They confirmed linkage to chromosome 9p1, with a maximum lod score of 11.33 at a recombination fraction of 0.001 between the disease and locus D9S1859. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8789455+9124799" 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="#14" class="mim-tip-reference" title="Ikeuchi, T., Asaka, T., Saito, M., Tanaka, H., Higuchi, S., Tanaka, K., Saida, K., Uyama, E., Mizusawa, H., Fukuhara, N., Nonaka, I., Takamori, M., Tsuji, S. <strong>Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9.</strong> Ann. Neurol. 41: 432-437, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9124799/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9124799</a>] [<a href="https://doi.org/10.1002/ana.410410405" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9124799">Ikeuchi et al. (1997)</a> found linkage to 9p1-q1 in Japanese families with autosomal recessive distal myopathy with rimmed vacuoles and suggested that this disorder may be allelic to the autosomal recessive HIBM identified in Persian Jewish families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9124799" 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>Eisenberg et al. (<a href="#11" class="mim-tip-reference" title="Eisenberg, I., Thiel, C., Levi, T., Tiram, E., Argov, Z., Sadeh, M., Jackson, C. L., Thierfelder, L., Mitrani-Rosenbaum, S. <strong>Fine structure mapping of the hereditary inclusion body myopathy locus.</strong> Genomics 55: 43-48, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9888997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9888997</a>] [<a href="https://doi.org/10.1006/geno.1998.5630" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9888997">1999</a>, <a href="#9" class="mim-tip-reference" title="Eisenberg, I., Hochner, H., Shemesh, M., Levi, T., Potikha, T., Sadeh, M., Argov, Z., Jackson, C. L., Mitrani-Rosenbaum, S. <strong>Physical and transcriptional map of the hereditary inclusion body myopathy locus on chromosome 9p12-p13.</strong> Europ. J. Hum. Genet. 9: 501-509, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11464241/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11464241</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200665" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11464241">2001</a>) localized the locus for inclusion body myopathy in Middle Eastern Jews to 9p13-p12 within a genomic interval of about 700 kb. Haplotype analysis of the chromosomal region in 104 affected people from 47 Middle Eastern families indicated 1 unique ancestral founder chromosome. By contrast, single non-Jewish families from India, U.S., and the Bahamas, with quadriceps-sparing myopathy and linkage to the same 9p13-p12 region, showed 3 distinct haplotypes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9888997+11464241" 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 homozygosity and linkage disequilibrium mapping, <a href="#4" class="mim-tip-reference" title="Asaka, T., Ikeuchi, K., Okino, S., Takizawa, Y., Satake, R., Nitta, E., Komai, K., Endo, K., Higuchi, S., Oyake, T., Yoshimura, T., Suenaga, A., and 14 others. <strong>Homozygosity and linkage disequilibrium mapping of autosomal recessive distal myopathy (Nonaka distal myopathy).</strong> J. Hum. Genet. 46: 649-655, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11721884/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11721884</a>] [<a href="https://doi.org/10.1007/s100380170016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11721884">Asaka et al. (2001)</a> refined the assignment of the NM locus to a 1.5-Mb region between markers D9S2178 and D9S1791. Haplotype analysis indicated that a majority of NM chromosomes were derived from a single ancestral founder. They concluded that the cytogenetic location of the locus is 9p13. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11721884" 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>The transmission pattern of Nonaka myopathy in the families reported by <a href="#8" class="mim-tip-reference" title="Eisenberg, I., Avidan, N., Potikha, T., Hochner, H., Chen, M., Olender, T., Barash, M., Shemesh, M., Sadeh, M., Grabov-Nardini, G., Shmilevich, I., Friedmann, A., Karpati, G., Bradley, W. G., Baumbach, L., Lancet, D., Ben Asher, E., Beckmann, J. S., Argov, Z., Mitrani-Rosenbaum, S. <strong>The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.</strong> Nature Genet. 29: 83-87, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11528398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11528398</a>] [<a href="https://doi.org/10.1038/ng718" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11528398">Eisenberg et al. (2001)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11528398" 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>After excluding other potential candidate genes that mapped to the 9p13-p12 region, <a href="#8" class="mim-tip-reference" title="Eisenberg, I., Avidan, N., Potikha, T., Hochner, H., Chen, M., Olender, T., Barash, M., Shemesh, M., Sadeh, M., Grabov-Nardini, G., Shmilevich, I., Friedmann, A., Karpati, G., Bradley, W. G., Baumbach, L., Lancet, D., Ben Asher, E., Beckmann, J. S., Argov, Z., Mitrani-Rosenbaum, S. <strong>The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.</strong> Nature Genet. 29: 83-87, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11528398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11528398</a>] [<a href="https://doi.org/10.1038/ng718" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11528398">Eisenberg et al. (2001)</a> identified mutations in the GNE gene in affected members of families with hereditary inclusion body myopathy; all patients of Middle Eastern descent shared a single homozygous missense mutation (M712T; <a href="/entry/603824#0005">603824.0005</a>), whereas affected individuals of families of other ethnic origins were compound heterozygous for distinct mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11528398" 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 sequence and haplotype analyses of the GNE gene in 2 sibs with Nonaka myopathy in a Japanese family, <a href="#15" class="mim-tip-reference" title="Kayashima, T., Matsuo, H., Satoh, A., Ohta, T., Yoshiura, K., Matsumoto, N., Nakane, Y., Niikawa, N., Kishino, T. <strong>Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE).</strong> J. Hum. Genet. 47: 77-79, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11916006/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11916006</a>] [<a href="https://doi.org/10.1007/s100380200004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11916006">Kayashima et al. (2002)</a> found that both were compound heterozygous for 2 missense mutations (<a href="/entry/603284#0012">603284.0012</a>-<a href="/entry/603284#0013">603284.0013</a>). Their normal parents and a normal older brother were all carriers for one or the other of the mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11916006" 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 2 second cousins from an Italian family with hereditary inclusion body myopathy, <a href="#6" class="mim-tip-reference" title="Broccolini, A., Pescatori, M., D'Amico, A., Sabino, A., Silvestri, G., Ricci, E., Servidei, S., Tonali, P. A., Mirabella, M. <strong>An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene.</strong> Neurology 59: 1808-1809, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12473780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12473780</a>] [<a href="https://doi.org/10.1212/01.wnl.0000031808.04545.e0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12473780">Broccolini et al. (2002)</a> identified compound heterozygous mutations in the GNE gene: a novel mutation (met171 to val; <a href="/entry/603824#0016">603824.0016</a>) and M712T (<a href="/entry/603824#0005">603824.0005</a>). The authors noted that this was the first report of the M712T mutation in patients of non-Middle Eastern descent. In an American patient with inclusion body myopathy, <a href="#30" class="mim-tip-reference" title="Vasconcelos, O. M., Raju, R., Dalakas, M. C. <strong>GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM.</strong> Neurology 59: 1776-1779, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12473769/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12473769</a>] [<a href="https://doi.org/10.1212/01.wnl.0000039780.13681.ad" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12473769">Vasconcelos et al. (2002)</a> identified compound heterozygous mutations in the GNE gene (<a href="/entry/603824#0015">603824.0015</a>; <a href="/entry/603824#0017">603824.0017</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12473780+12473769" 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 7 of 9 unrelated Japanese patients with Nonaka myopathy, <a href="#29" class="mim-tip-reference" title="Tomimitsu, H., Ishikawa, K., Shimizu, J., Ohkoshi, N., Kanazawa, I., Mizusawa, H. <strong>Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene.</strong> Neurology 59: 451-454, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12177386/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12177386</a>] [<a href="https://doi.org/10.1212/wnl.59.3.451" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12177386">Tomimitsu et al. (2002)</a> identified a homozygous val572-to-leu (V572L; <a href="/entry/603824#0013">603824.0013</a>) mutation in the GNE gene. The eighth patient was compound heterozygous for V572L and cys303-to-val (C303V; <a href="/entry/603824#0014">603824.0014</a>) mutations, and the ninth patient was homozygous for an ala631-to-val (A631V; <a href="/entry/602824#0015">602824.0015</a>) mutation. <a href="#29" class="mim-tip-reference" title="Tomimitsu, H., Ishikawa, K., Shimizu, J., Ohkoshi, N., Kanazawa, I., Mizusawa, H. <strong>Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene.</strong> Neurology 59: 451-454, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12177386/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12177386</a>] [<a href="https://doi.org/10.1212/wnl.59.3.451" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12177386">Tomimitsu et al. (2002)</a> noted that patients with different mutations showed different clinical characteristics and that some showed overlap with the characteristics of hereditary inclusion body myopathy. <a href="#29" class="mim-tip-reference" title="Tomimitsu, H., Ishikawa, K., Shimizu, J., Ohkoshi, N., Kanazawa, I., Mizusawa, H. <strong>Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene.</strong> Neurology 59: 451-454, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12177386/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12177386</a>] [<a href="https://doi.org/10.1212/wnl.59.3.451" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12177386">Tomimitsu et al. (2002)</a> suggested that Nonaka myopathy and hereditary inclusion body myopathy may be the same entity rather than allelic disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12177386" 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>Among 33 Japanese patients and 1 patient of German and Irish ancestry with Nonaka myopathy, <a href="#23" class="mim-tip-reference" title="Nishino, I., Noguchi, S., Murayama, K., Driss, A., Sugie, K., Oya, Y., Nagata, T., Chida, K., Takahashi, T., Takusa, Y., Ohi, T., Nishiyama, J., Sunohara, N., Ciafaloni, E., Kawai, M., Aoki, M., Nonaka, I. <strong>Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy.</strong> Neurology 59: 1689-1693, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12473753/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12473753</a>] [<a href="https://doi.org/10.1212/01.wnl.0000041631.28557.c6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12473753">Nishino et al. (2002)</a> identified homozygous or compound heterozygous mutations in the GNE gene in 27 unrelated patients. An unaffected father of 1 patient had a homozygous mutation that presumably caused disease in other patients. The V572L mutation (<a href="/entry/603824#0013">603824.0013</a>) accounted for 61% of the abnormal alleles in the study, indicating a high frequency of carriers of this mutation in Japan. The authors noted that the patient of German and Irish ancestry had a compound mutation, although not the V572L mutation, indicating that the disorder is not restricted to Japan. Epimerase activity of GNE was significantly reduced in patient lymphocytes, suggesting that loss-of-function mutations are responsible for the disease. <a href="#12" class="mim-tip-reference" title="Hinderlich, S., Salama, I., Eisenberg, I., Mitrani-Rosenbaum, S. <strong>Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy. (Letter)</strong> Neurology 61: 145 only, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12847185/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12847185</a>] [<a href="https://doi.org/10.1212/wnl.61.1.145" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12847185">Hinderlich et al. (2003)</a> commented on the difficulties in detecting GNE epimerase activity, but noted that they had found slightly reduced, although clearly active, levels of essential epimerase activity in lymphoblastoid cells derived from patients with hereditary inclusion body myopathy who had the M712T mutation in the kinase portion of the gene. <a href="#23" class="mim-tip-reference" title="Nishino, I., Noguchi, S., Murayama, K., Driss, A., Sugie, K., Oya, Y., Nagata, T., Chida, K., Takahashi, T., Takusa, Y., Ohi, T., Nishiyama, J., Sunohara, N., Ciafaloni, E., Kawai, M., Aoki, M., Nonaka, I. <strong>Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy.</strong> Neurology 59: 1689-1693, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12473753/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12473753</a>] [<a href="https://doi.org/10.1212/01.wnl.0000041631.28557.c6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12473753">Nishino et al. (2002)</a> noted that Nonaka myopathy and hereditary inclusion body myopathy may be the same disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12473753+12847185" 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="#16" class="mim-tip-reference" title="Kim, B. J., Ki, C.-S., Kim, J.-W., Sung, D. H., Choi, Y.-C., Kim, S. H. <strong>Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles.</strong> J. Hum. Genet. 51: 137-140, 2006. Note: Erratum: J. Hum. Genet. 51: 840 only, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16372135/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16372135</a>] [<a href="https://doi.org/10.1007/s10038-005-0338-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16372135">Kim et al. (2006)</a> performed clinical and genetic analysis of 9 unrelated Korean patients suspected of having Nonaka myopathy and found that 8 of the 9 were homozygous or compound heterozygous for mutations in the GNE gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16372135" 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>This disorder, affecting mainly leg muscles but with an unusual distribution that spares the quadriceps, was first described in Japanese patients by <a href="#24" class="mim-tip-reference" title="Nonaka, I., Sunohara, N., Ishiura, S., Satoyoshi, E. <strong>Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation.</strong> J. Neurol. Sci. 51: 141-155, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7252518/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7252518</a>] [<a href="https://doi.org/10.1016/0022-510x(81)90067-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7252518">Nonaka et al. (1981)</a> and later in Jews of Persian descent by <a href="#2" class="mim-tip-reference" title="Argov, A., Yarom, R. <strong>'Rimmed vacuole myopathy' sparing the quadriceps: a unique disorder in Iranian Jews.</strong> J. Neurol. Sci. 64: 33-43, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6737002/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6737002</a>] [<a href="https://doi.org/10.1016/0022-510x(84)90053-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6737002">Argov and Yarom (1984)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7252518+6737002" 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="#3" class="mim-tip-reference" title="Argov, Z., Eisenberg, I., Grabov-Nardini, G., Sadeh, M., Wirguin, I., Soffer, D., Mitrani-Rosenbaum, S. <strong>Hereditary inclusion body myopathy: the Middle Eastern genetic cluster.</strong> Neurology 60: 1519-1523, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12743242/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12743242</a>] [<a href="https://doi.org/10.1212/01.wnl.0000061617.71839.42" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12743242">Argov et al. (2003)</a> identified homozygosity for the GNE M712T mutation (<a href="/entry/603824#0005">603824.0005</a>) in 129 Middle Eastern patients from 55 families with this disorder. Eleven patients had atypical features: 5 had involvement of the quadriceps muscle, 2 patients did not have distal weakness, 3 patients had facial weakness, and 1 patient had perivascular inflammation. There were 5 unaffected individuals with the homozygous mutation from 5 different families, including 2 who were 50 and 68 years old. The families included Middle Eastern Jews, Karaites, and Arab Muslims of Palestinian and Bedouin origin. <a href="#3" class="mim-tip-reference" title="Argov, Z., Eisenberg, I., Grabov-Nardini, G., Sadeh, M., Wirguin, I., Soffer, D., Mitrani-Rosenbaum, S. <strong>Hereditary inclusion body myopathy: the Middle Eastern genetic cluster.</strong> Neurology 60: 1519-1523, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12743242/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12743242</a>] [<a href="https://doi.org/10.1212/01.wnl.0000061617.71839.42" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12743242">Argov et al. (2003)</a> offered a detailed historical perspective of the different cultures, and concluded that this founder mutation is approximately 1,300 years old and is not limited to those of Jewish descent. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12743242" 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="#19" class="mim-tip-reference" title="Malicdan, M. C. V., Noguchi, S., Nonaka, I., Hayashi, Y. K., Nishino, I. <strong>A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.</strong> Hum. Molec. Genet. 16: 2669-2682, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17704511/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17704511</a>] [<a href="https://doi.org/10.1093/hmg/ddm220" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17704511">Malicdan et al. (2007)</a> generated Gne-deficient mice expressing the human D176V-GNE mutation as a mouse model of DMRV-HIBM. Complete knockout of the Gne gene was embryonic lethal. Mice with the D176V mutation showed marked hyposialylation in serum, muscle, and other organs. Reduction in motor performance in these mice could only be seen from 30 weeks of age. By 32 weeks, myofibers developed beta-amyloid deposition, which preceded rimmed vacuole formation at 42 weeks. The findings also suggested that hyposialylation plays an important role in the pathomechanism of DMRV-HIBM. <a href="#18" class="mim-tip-reference" title="Malicdan, M. C. V., Noguchi, S., Hayashi, Y. K., Nonaka, I., Nishino, I. <strong>Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model.</strong> Nature Med. 15: 690-695, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19448634/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19448634</a>] [<a href="https://doi.org/10.1038/nm.1956" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19448634">Malicdan et al. (2009)</a> found that D176V-mutant mice treated orally with sialic acid showed increased survival, increased motor performance, and decreased number of rimmed vacuoles in skeletal muscle compared to untreated mice with the disorder. Prophylactic treatment prevented development of the myopathic phenotype. The findings indicated that hyposialylation is a key factor in the pathomechanism of DMRV-HIBM. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19448634+17704511" 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="#28" class="mim-tip-reference" title="Sivakumar, K., Cervenakova, L., Dalakas, M. C., Leon-Monzon, M., Isaacson, S. H., Nagle, J. W., Vasconcelos, O., Goldfarb, I. G. <strong>Exons 16 and 17 of the amyloid precursor protein gene in familial inclusion body myopathy.</strong> Ann. Neurol. 38: 267-269, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7654077/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7654077</a>] [<a href="https://doi.org/10.1002/ana.410380222" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7654077">Sivakumar et al. (1995)</a> analyzed the sequence of exons 16 and 17 of amyloid precursor protein in 8 individuals with familial inclusion body myopathy, including 5 patients from Caucasian families segregating IBM in autosomal dominant fashion and 3 individuals who had apparent autosomal recessive inheritance, one of whom was of Iranian-Jewish ancestry. No mutations were demonstrated in these exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7654077" 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/10.1016/0022-510x(84)90053-4" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000061617.71839.42" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s100380170016" target="_blank">Full Text</a>]
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<a id="Broccolini2010" class="mim-anchor"></a>
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Broccolini, A., Gidaro, T., Tasca, G., Morosetti, R., Rodolico, C., Ricci, E., Mirabella, M.
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<strong>Analysis of NCAM helps identify unusual phenotypes of hereditary inclusion-body myopathy.</strong>
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Neurology 75: 265-272, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20644153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20644153</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20644153" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/WNL.0b013e3181e8e8f1" target="_blank">Full Text</a>]
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<a id="Broccolini2002" class="mim-anchor"></a>
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<strong>An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene.</strong>
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[<a href="https://doi.org/10.1212/01.wnl.0000031808.04545.e0" target="_blank">Full Text</a>]
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<strong>Narrowing of the gene locus for autosomal-recessive quadriceps sparing inclusion-body myopathy (ARQS-IBM) to chromosome 9p1.</strong>
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Eisenberg, I., Avidan, N., Potikha, T., Hochner, H., Chen, M., Olender, T., Barash, M., Shemesh, M., Sadeh, M., Grabov-Nardini, G., Shmilevich, I., Friedmann, A., Karpati, G., Bradley, W. G., Baumbach, L., Lancet, D., Ben Asher, E., Beckmann, J. S., Argov, Z., Mitrani-Rosenbaum, S.
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<strong>The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11528398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11528398</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11528398" 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/ng718" target="_blank">Full Text</a>]
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<strong>Physical and transcriptional map of the hereditary inclusion body myopathy locus on chromosome 9p12-p13.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11464241/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11464241</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11464241" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/sj.ejhg.5200665" target="_blank">Full Text</a>]
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Eisenberg, I., Novershtern, N., Itzhaki, Z., Becker-Cohen, M., Sadeh, M., Willems, P. H. G. M., Friedman, N., Koopman, W. J. H., Mitrani-Rosenbaum, S.
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<strong>Mitochondrial processes are impaired in hereditary inclusion body myopathy.</strong>
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Hum. Molec. Genet. 17: 3663-3674, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18723858/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18723858</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18723858" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddn261" target="_blank">Full Text</a>]
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<strong>Fine structure mapping of the hereditary inclusion body myopathy locus.</strong>
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[<a href="https://doi.org/10.1006/geno.1998.5630" target="_blank">Full Text</a>]
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<a id="Hinderlich2003" class="mim-anchor"></a>
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Hinderlich, S., Salama, I., Eisenberg, I., Mitrani-Rosenbaum, S.
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<strong>Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy. (Letter)</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12847185/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12847185</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12847185" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/wnl.61.1.145" target="_blank">Full Text</a>]
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<a id="Huizing2014" class="mim-anchor"></a>
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Huizing, M., Carrillo-Carrasco, N., Malicdan, M. C. V., Noguchi, S., Gahl, W. A., Mitrani-Rosenbaum, S., Argov, Z., Nishino, I.
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[<a href="https://doi.org/10.1016/j.nmd.2014.03.004" target="_blank">Full Text</a>]
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<a id="Ikeuchi1997" class="mim-anchor"></a>
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<strong>Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9124799/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9124799</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9124799" 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.410410405" target="_blank">Full Text</a>]
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<a id="Kayashima2002" class="mim-anchor"></a>
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<div class="">
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Kayashima, T., Matsuo, H., Satoh, A., Ohta, T., Yoshiura, K., Matsumoto, N., Nakane, Y., Niikawa, N., Kishino, T.
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<strong>Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE).</strong>
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J. Hum. Genet. 47: 77-79, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11916006/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11916006</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11916006" 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/s100380200004" target="_blank">Full Text</a>]
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<a id="Kim2006" class="mim-anchor"></a>
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Kim, B. J., Ki, C.-S., Kim, J.-W., Sung, D. H., Choi, Y.-C., Kim, S. H.
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<strong>Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16372135/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16372135</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16372135" 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/s10038-005-0338-5" target="_blank">Full Text</a>]
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<a id="Krause2007" class="mim-anchor"></a>
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Krause, S., Aleo, A., Hinderlich, S., Merlini, L., Tournev, I., Walter, M. C., Argov, Z., Mitrani-Rosenbaum, S., Lochmuller, H.
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<strong>GNE protein expression and subcellular distribution are unaltered in HIBM.</strong>
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[<a href="https://doi.org/10.1212/01.wnl.0000267426.97138.fd" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/nm.1956" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/ddm220" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archneur.1991.00530170083024" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/5.1.159" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00294256" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000041631.28557.c6" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0022-510x(81)90067-8" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1182/blood-2018-04-845545" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16534119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16534119</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16534119" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000200956.76449.3f" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/brain/116.1.217" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ana.410380222" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000039780.13681.ad" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000061520.63546.8f" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320580108" target="_blank">Full Text</a>]
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Carol A. Bocchini - updated : 12/10/2015<br>Cassandra L. Kniffin - updated : 7/29/2009<br>Marla J. F. O'Neill - updated : 4/6/2006<br>Cassandra L. Kniffin - updated : 1/22/2004<br>Cassandra L. Kniffin - updated : 8/8/2003<br>Cassandra L. Kniffin - reorganized : 1/24/2003<br>Cassandra L. Kniffin - updated : 10/7/2002<br>Victor A. McKusick - updated : 3/19/2002<br>Victor A. McKusick - updated : 1/7/2002<br>Victor A. McKusick - updated : 8/23/2001
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Creation Date:
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Victor A. McKusick : 4/5/2001
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alopez : 03/20/2024
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ckniffin : 03/18/2024<br>carol : 11/23/2022<br>alopez : 11/15/2016<br>carol : 10/05/2016<br>carol : 12/11/2015<br>carol : 12/10/2015<br>carol : 3/21/2013<br>wwang : 8/10/2009<br>ckniffin : 7/29/2009<br>ckniffin : 3/13/2009<br>wwang : 4/10/2006<br>terry : 4/6/2006<br>tkritzer : 2/4/2004<br>ckniffin : 1/22/2004<br>ckniffin : 1/22/2004<br>tkritzer : 8/12/2003<br>ckniffin : 8/8/2003<br>carol : 1/24/2003<br>ckniffin : 1/21/2003<br>carol : 11/1/2002<br>tkritzer : 10/29/2002<br>ckniffin : 10/7/2002<br>cwells : 4/3/2002<br>cwells : 3/21/2002<br>terry : 3/19/2002<br>carol : 1/10/2002<br>terry : 1/7/2002<br>alopez : 8/27/2001<br>terry : 8/23/2001<br>mgross : 4/5/2001
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<strong>#</strong> 605820
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NONAKA MYOPATHY; NM
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<em>Alternative titles; symbols</em>
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NONAKA DISTAL MYOPATHY<br />
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MYOPATHY, DISTAL, WITH OR WITHOUT RIMMED VACUOLES<br />
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INCLUSION BODY MYOPATHY, HEREDITARY, AUTOSOMAL RECESSIVE; HIBM<br />
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INCLUSION BODY MYOPATHY, QUADRICEPS-SPARING; QSM<br />
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GNE MYOPATHY<br />
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INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE, FORMERLY; IBM2, FORMERLY
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<strong>SNOMEDCT:</strong> 702382000;
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<strong>ORPHA:</strong> 602;
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<strong>DO:</strong> 0080718;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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9p13.3
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Nonaka myopathy
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605820
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Autosomal recessive
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3
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GNE
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603824
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that Nonaka myopathy (NM) is caused by homozygous or compound heterozygous mutation in the gene encoding UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE; 603824) on chromosome 9p13.</p><p>Biallelic mutation in the GNE gene also causes congenital thrombocytopenia-12 with or without myopathy (THC12; 620757), which shows overlapping clinical features.</p>
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<strong>Description</strong>
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<p>Nonaka myopathy (NM) is an autosomal recessive progressive adult-onset myopathy with a predeliction for distal muscle involvement, usually affecting the lower limbs and resulting in gait abnormalities or loss of ambulation. Some individuals may have involvement of the upper limbs or proximal muscles (Argov et al., 2003). In rare cases (up to 2.5%), the myopathy can be associated with mild, asymptomatic thrombocytopenia, as observed in the allelic disorder THC12 (summary by Revel-Vilk et al., 2018). </p><p>Historically, the disorder has had several different names, including distal myopathy with rimmed vacuoles, inclusion body myopathy, and quadriceps-sparing myopathy. Huizing et al. (2014) proposed using the term 'GNE myopathy' to refer to this disorder. </p>
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<strong>Clinical Features</strong>
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<p>Nonaka et al. (1981) described a form of muscular dystrophy with predilection for distal muscles, especially the anterior tibial muscles, and onset in early adulthood. The EMG demonstrated a myopathic pattern and creatine phosphokinase (CPK) was mildly elevated. Rapid clinical progression was observed. Nonaka et al. (1981) thought the disorder in their families was autosomal recessive. They stated that the disorder appears to be common in Japan. </p><p>Argov and Yarom (1984) described a 'rimmed vacuole myopathy' in Jews of Persian origin. The onset of this disorder usually occurred after the age of 20 years but before the middle of the fourth decade of life. Proximal and distal muscle weakness and wasting of the upper and lower limbs were progressive and resulted in severe incapacitation within 10 to 20 years. Despite this, there typically was sparing of the quadriceps muscles even in advanced stages of the disease, a feature unique to this form of inclusion body myopathy. It was not clear to the authors whether this disorder was primarily neurogenic or myopathic. </p><p>Massa et al. (1991) reported 2 unrelated patients with IBM2, each from a family of Iranian-Kurdish-Jewish origin. The picture was that of adult-onset, slowly progressive limb-girdle muscle weakness with a remarkable sparing of quadriceps muscles. </p><p>Zlotogora (1995) reported that rimmed vacuole myopathy had been identified in 19 subjects of Iranian Jewish extraction and 3 others, possibly of that origin. They cited the reports of Adam et al. (1981), Argov and Yarom (1984), and Sadeh et al. (1993). Muscular weakness usually appeared in the third decade as gait difficulties. Progression was gradual, and most patients became severely incapacitated a decade after onset. Ocular, pharyngeal, and cardiac muscles were not involved. The muscles of the shoulder girdle were severely affected in advanced cases, with relative sparing of the deltoid, biceps, and triceps. In the lower limbs, foot dorsiflexion was usually very weak at an early stage of the disease. When leg muscle weakness becomes widespread, the most characteristic finding becomes evident, namely sparing of the quadriceps. The quadriceps muscles stayed strong even in advanced stages of the disorder, and thus the patients were able to stand and walk until late in the course of the disease. Creatine kinase levels were normal or moderately elevated, and nerve conduction velocity was normal. </p><p>Asaka et al. (2001) pointed out the unique distribution of muscular weakness and wasting in Nonaka distal myopathy. Although the hamstring and tibialis anterior muscles are affected severely by early adulthood, the quadriceps muscles are spared even in a late stage of the disorder. </p><p><strong><em>Pathologic Findings</em></strong></p><p>
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Nonaka et al. (1981) noted that a striking morphologic change on muscle biopsy was the presence of 'rimmed' vacuoles that had acid phosphatase-positive autophagocytic activity and contained numerous concentric lamellar bodies in various forms. There was almost no histologic sign of regeneration. </p><p>Argov and Yarom (1984) found that muscle biopsies from affected patients showed a rimmed vacuole myopathy and that the degenerating muscle fibers contained abnormal accumulations of beta-amyloid protein (104760) and other pathologic markers found in brain specimens from neurodegenerative disorders such as Alzheimer disease (see 104300). However, there was no central nervous system disease in these patients. </p><p>Massa et al. (1991) reported that muscle biopsies of affected patients showed abundant lined vacuoles and characteristic cytoplasmic inclusions of 15- to 18-nm filaments. Many vacuolated muscle fibers showed immunoreactivity to neural cell adhesion molecule (NCAM1; 116930), a fetal muscle antigen. In muscle biopsies, Zlotogora (1995) found many muscle fibers containing clefts or round vacuoles rimmed by granular material that stained basophilic on hematoxylin and eosin. </p><p>Murakami et al. (1995) compared Congo red and immunohistochemical staining of 11 biopsies of distal myopathy with rimmed vacuoles to that of inclusion body myositis (IBM; 147421). All biopsies had characteristic tubulofilamentous inclusions in their nuclei on electron microscopy. Similarly, all specimens had deposits immunoreactive for beta-amyloid protein, ubiquitin, and tau protein. Most DMRV and IBM specimens had Congophilic amyloid material. Indeed, only the presence of inflammatory cell infiltrates in IBM cases distinguished them from DMRV. The authors suggested that the degenerative process involved in rimmed vacuole formation may share a common pathogenetic mechanism with that in Alzheimer disease brain. </p><p>In 2 Japanese brothers with distal myopathy with rimmed vacuoles, confirmed by compound heterozygous mutations in the GNE gene, Yabe et al. (2003) reported the presence of inflammatory cells in affected muscle biopsies. Immunohistochemical characterization detected CD8 T cells, fewer CD4 T cells and macrophages, and no B cells. The authors noted that the inflammatory cells are an unusual finding in this disorder, and are usually seen in familial IBM. </p><p>Ricci et al. (2006) found that NCAM1 was hyposialylated in IBM2 muscle, as suggested by its decreased molecular weight on Western blot analysis. NCAM1 was identified as a discrete band of 130 kD in affected muscle compared to a broad band of 150 to 200 kD in other myopathies. NCAM1 was almost undetectable in normal control muscles, since it is usually detectable in regenerating fibers. Ricci et al. (2006) suggested that this specific abnormality could be used for diagnosis. </p><p>In muscle biopsies from 5 patients with IBM2, Krause et al. (2007) found that the GNE protein was expressed at normal levels and showed normal localization, suggesting that the disorder results from impaired GNE function. </p><p>By gene expression profiling of muscle specimens from 10 patients with the Persian Jewish founder GNE mutation M712T (603824.0005) compared to controls, Eisenberg et al. (2008) found that a large proportion (56 of 300, 18.6%) of differentially expressed mRNAs of known function in this disorder encoded proteins implicated in various mitochondrial processes. Morphologic analysis of mitochondria using video-rate confocal microscopy showed a high degree of mitochondrial branching in patient cells, which may represent compensatory mechanisms. The results indicated that dysregulation of mitochondrial pathways, such as apoptosis, may be involved in the pathophysiology of the disorder. Eisenberg et al. (2008) suggested that these subtle changes may partially explain the slow evolution of the disorder. </p>
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<strong>Nomenclature</strong>
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<p>Huizing et al. (2014) noted the many names that have been used for this disorder and suggested that the disorder be called 'GNE myopathy.' </p>
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<h4>
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<span class="mim-font">
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<strong>Diagnosis</strong>
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<p>Ricci et al. (2006) found that NCAM1 (116930) was hyposialylated in HIBM muscle, as suggested by its increased electrophoretic mobility on Western blot analysis. NCAM1 was identified as a discrete band of 130 kD in affected muscle compared to a broad band of 150 to 200 kD in other myopathies. In a follow-up report, Broccolini et al. (2010) demonstrated that Western blot analysis of muscle NCAM1 could be used for diagnosis of HIBM in patients with unusual phenotypes. Three of 84 patients with proximal or distal muscle weakness were found to have a 130-kD NCAM1 band, and all 3 patients were subsequently found to have homozygous or compound heterozygous mutations in the GNE gene. These 3 patients had features not typical for inclusion body myopathy, including lack of rimmed vacuoles on biopsy, severe early onset, and mild, very late onset with distal muscle weakness, respectively. The hyposialylated NCAM1 was expressed by abnormal nonregenerating muscle fibers. </p>
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<strong>Mapping</strong>
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<p>Mitrani-Rosenbaum et al. (1996) performed linkage analyses in 9 Persian Jewish families selected for study because at least 1 member was previously diagnosed with hereditary IBM. Clinical studies provided evidence for autosomal recessive inheritance. A genomewide analysis demonstrated linkage to 9p1-q1 (D9S166); maximum lod score of 5.32 at theta = 0.0. Ikeuchi et al. (1997) found linkage to 9p1-q1 in Japanese families with autosomal recessive distal myopathy (Nonaka myopathy), suggesting that NM and HIBM are allelic. Christodoulou et al. (1998) performed linkage analysis in 10 families, 6 of Iranian-Jewish origin and 4 from other ethnic groups, with autosomal recessive quadriceps-sparing inclusion body myopathy. They confirmed linkage to chromosome 9p1, with a maximum lod score of 11.33 at a recombination fraction of 0.001 between the disease and locus D9S1859. </p><p>Ikeuchi et al. (1997) found linkage to 9p1-q1 in Japanese families with autosomal recessive distal myopathy with rimmed vacuoles and suggested that this disorder may be allelic to the autosomal recessive HIBM identified in Persian Jewish families. </p><p>Eisenberg et al. (1999, 2001) localized the locus for inclusion body myopathy in Middle Eastern Jews to 9p13-p12 within a genomic interval of about 700 kb. Haplotype analysis of the chromosomal region in 104 affected people from 47 Middle Eastern families indicated 1 unique ancestral founder chromosome. By contrast, single non-Jewish families from India, U.S., and the Bahamas, with quadriceps-sparing myopathy and linkage to the same 9p13-p12 region, showed 3 distinct haplotypes. </p><p>By homozygosity and linkage disequilibrium mapping, Asaka et al. (2001) refined the assignment of the NM locus to a 1.5-Mb region between markers D9S2178 and D9S1791. Haplotype analysis indicated that a majority of NM chromosomes were derived from a single ancestral founder. They concluded that the cytogenetic location of the locus is 9p13. </p>
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<span class="mim-font">
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<strong>Inheritance</strong>
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<span class="mim-text-font">
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<p>The transmission pattern of Nonaka myopathy in the families reported by Eisenberg et al. (2001) was consistent with autosomal recessive inheritance. </p>
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<strong>Molecular Genetics</strong>
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<p>After excluding other potential candidate genes that mapped to the 9p13-p12 region, Eisenberg et al. (2001) identified mutations in the GNE gene in affected members of families with hereditary inclusion body myopathy; all patients of Middle Eastern descent shared a single homozygous missense mutation (M712T; 603824.0005), whereas affected individuals of families of other ethnic origins were compound heterozygous for distinct mutations. </p><p>By sequence and haplotype analyses of the GNE gene in 2 sibs with Nonaka myopathy in a Japanese family, Kayashima et al. (2002) found that both were compound heterozygous for 2 missense mutations (603284.0012-603284.0013). Their normal parents and a normal older brother were all carriers for one or the other of the mutations. </p><p>In 2 second cousins from an Italian family with hereditary inclusion body myopathy, Broccolini et al. (2002) identified compound heterozygous mutations in the GNE gene: a novel mutation (met171 to val; 603824.0016) and M712T (603824.0005). The authors noted that this was the first report of the M712T mutation in patients of non-Middle Eastern descent. In an American patient with inclusion body myopathy, Vasconcelos et al. (2002) identified compound heterozygous mutations in the GNE gene (603824.0015; 603824.0017). </p><p>In 7 of 9 unrelated Japanese patients with Nonaka myopathy, Tomimitsu et al. (2002) identified a homozygous val572-to-leu (V572L; 603824.0013) mutation in the GNE gene. The eighth patient was compound heterozygous for V572L and cys303-to-val (C303V; 603824.0014) mutations, and the ninth patient was homozygous for an ala631-to-val (A631V; 602824.0015) mutation. Tomimitsu et al. (2002) noted that patients with different mutations showed different clinical characteristics and that some showed overlap with the characteristics of hereditary inclusion body myopathy. Tomimitsu et al. (2002) suggested that Nonaka myopathy and hereditary inclusion body myopathy may be the same entity rather than allelic disorders. </p><p>Among 33 Japanese patients and 1 patient of German and Irish ancestry with Nonaka myopathy, Nishino et al. (2002) identified homozygous or compound heterozygous mutations in the GNE gene in 27 unrelated patients. An unaffected father of 1 patient had a homozygous mutation that presumably caused disease in other patients. The V572L mutation (603824.0013) accounted for 61% of the abnormal alleles in the study, indicating a high frequency of carriers of this mutation in Japan. The authors noted that the patient of German and Irish ancestry had a compound mutation, although not the V572L mutation, indicating that the disorder is not restricted to Japan. Epimerase activity of GNE was significantly reduced in patient lymphocytes, suggesting that loss-of-function mutations are responsible for the disease. Hinderlich et al. (2003) commented on the difficulties in detecting GNE epimerase activity, but noted that they had found slightly reduced, although clearly active, levels of essential epimerase activity in lymphoblastoid cells derived from patients with hereditary inclusion body myopathy who had the M712T mutation in the kinase portion of the gene. Nishino et al. (2002) noted that Nonaka myopathy and hereditary inclusion body myopathy may be the same disorder. </p><p>Kim et al. (2006) performed clinical and genetic analysis of 9 unrelated Korean patients suspected of having Nonaka myopathy and found that 8 of the 9 were homozygous or compound heterozygous for mutations in the GNE gene. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Population Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>This disorder, affecting mainly leg muscles but with an unusual distribution that spares the quadriceps, was first described in Japanese patients by Nonaka et al. (1981) and later in Jews of Persian descent by Argov and Yarom (1984). </p><p>Argov et al. (2003) identified homozygosity for the GNE M712T mutation (603824.0005) in 129 Middle Eastern patients from 55 families with this disorder. Eleven patients had atypical features: 5 had involvement of the quadriceps muscle, 2 patients did not have distal weakness, 3 patients had facial weakness, and 1 patient had perivascular inflammation. There were 5 unaffected individuals with the homozygous mutation from 5 different families, including 2 who were 50 and 68 years old. The families included Middle Eastern Jews, Karaites, and Arab Muslims of Palestinian and Bedouin origin. Argov et al. (2003) offered a detailed historical perspective of the different cultures, and concluded that this founder mutation is approximately 1,300 years old and is not limited to those of Jewish descent. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Malicdan et al. (2007) generated Gne-deficient mice expressing the human D176V-GNE mutation as a mouse model of DMRV-HIBM. Complete knockout of the Gne gene was embryonic lethal. Mice with the D176V mutation showed marked hyposialylation in serum, muscle, and other organs. Reduction in motor performance in these mice could only be seen from 30 weeks of age. By 32 weeks, myofibers developed beta-amyloid deposition, which preceded rimmed vacuole formation at 42 weeks. The findings also suggested that hyposialylation plays an important role in the pathomechanism of DMRV-HIBM. Malicdan et al. (2009) found that D176V-mutant mice treated orally with sialic acid showed increased survival, increased motor performance, and decreased number of rimmed vacuoles in skeletal muscle compared to untreated mice with the disorder. Prophylactic treatment prevented development of the myopathic phenotype. The findings indicated that hyposialylation is a key factor in the pathomechanism of DMRV-HIBM. </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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<h4>
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<span class="mim-font">
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<strong>History</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>Sivakumar et al. (1995) analyzed the sequence of exons 16 and 17 of amyloid precursor protein in 8 individuals with familial inclusion body myopathy, including 5 patients from Caucasian families segregating IBM in autosomal dominant fashion and 3 individuals who had apparent autosomal recessive inheritance, one of whom was of Iranian-Jewish ancestry. No mutations were demonstrated in these exons. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<strong>The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.</strong>
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Eisenberg, I., Hochner, H., Shemesh, M., Levi, T., Potikha, T., Sadeh, M., Argov, Z., Jackson, C. L., Mitrani-Rosenbaum, S.
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Eisenberg, I., Novershtern, N., Itzhaki, Z., Becker-Cohen, M., Sadeh, M., Willems, P. H. G. M., Friedman, N., Koopman, W. J. H., Mitrani-Rosenbaum, S.
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Eisenberg, I., Thiel, C., Levi, T., Tiram, E., Argov, Z., Sadeh, M., Jackson, C. L., Thierfelder, L., Mitrani-Rosenbaum, S.
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Hinderlich, S., Salama, I., Eisenberg, I., Mitrani-Rosenbaum, S.
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<strong>Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy. (Letter)</strong>
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Huizing, M., Carrillo-Carrasco, N., Malicdan, M. C. V., Noguchi, S., Gahl, W. A., Mitrani-Rosenbaum, S., Argov, Z., Nishino, I.
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Ikeuchi, T., Asaka, T., Saito, M., Tanaka, H., Higuchi, S., Tanaka, K., Saida, K., Uyama, E., Mizusawa, H., Fukuhara, N., Nonaka, I., Takamori, M., Tsuji, S.
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<strong>Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE).</strong>
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Malicdan, M. C. V., Noguchi, S., Hayashi, Y. K., Nonaka, I., Nishino, I.
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Malicdan, M. C. V., Noguchi, S., Nonaka, I., Hayashi, Y. K., Nishino, I.
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<strong>A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.</strong>
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Mitrani-Rosenbaum, S., Argov, Z., Blumenfeld, A., Seidman, C. E., Seidman, J. G.
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<strong>Hereditary inclusion body myopathy maps to chromosome 9p1-q1.</strong>
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<p class="mim-text-font">
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Murakami, N., Ihara, Y., Nonaka, I.
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<strong>Muscle fiber degeneration in distal myopathy with rimmed vacuole formation.</strong>
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Acta Neuropath. 89: 29-34, 1995.
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[PubMed: 7709728]
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<p class="mim-text-font">
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Nishino, I., Noguchi, S., Murayama, K., Driss, A., Sugie, K., Oya, Y., Nagata, T., Chida, K., Takahashi, T., Takusa, Y., Ohi, T., Nishiyama, J., Sunohara, N., Ciafaloni, E., Kawai, M., Aoki, M., Nonaka, I.
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|
<strong>Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy.</strong>
|
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Neurology 59: 1689-1693, 2002.
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[PubMed: 12473753]
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[Full Text: https://doi.org/10.1212/01.wnl.0000041631.28557.c6]
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</p>
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<p class="mim-text-font">
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Nonaka, I., Sunohara, N., Ishiura, S., Satoyoshi, E.
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<strong>Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation.</strong>
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J. Neurol. Sci. 51: 141-155, 1981.
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[PubMed: 7252518]
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[Full Text: https://doi.org/10.1016/0022-510x(81)90067-8]
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Revel-Vilk, S., Shai, E., Turro, E., Jahshan, N., Hi-Am, E., Spectre, G., Daum, H., Kalish, Y., Althaus, K., Greinacher, A., Kaplinsky, C., Izraeli, S., Mapeta, R., Deevi, S. V. V., Jarocha, D., Ouwehand, W. H., Downes, K., Poncz, M., Varon, D., Lambert, M. P.
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<strong>GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting.</strong>
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Blood 132: 1851-1854, 2018.
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Ricci, E., Broccolini, A., Gidaro, T., Morosetti, R., Gliubizzi, C., Frusciante, R., Di Lella, G. M., Tonali, P. A., Mirabella, M.
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<strong>NCAM is hyposialylated in hereditary inclusion body myopathy due to GNE mutations.</strong>
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Neurology 66: 755-758, 2006.
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Sadeh, M., Gadoth, N., Hadar, H., Ben-David, E.
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<strong>Vacuolar myopathy sparing the quadriceps.</strong>
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Sivakumar, K., Cervenakova, L., Dalakas, M. C., Leon-Monzon, M., Isaacson, S. H., Nagle, J. W., Vasconcelos, O., Goldfarb, I. G.
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<strong>Exons 16 and 17 of the amyloid precursor protein gene in familial inclusion body myopathy.</strong>
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Tomimitsu, H., Ishikawa, K., Shimizu, J., Ohkoshi, N., Kanazawa, I., Mizusawa, H.
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<strong>Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene.</strong>
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Vasconcelos, O. M., Raju, R., Dalakas, M. C.
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<strong>GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM.</strong>
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Yabe, I., Higashi, T., Kikuchi, S., Sasaki, H., Fukazawa, T., Yoshida, K., Tashiro, K.
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<strong>GNE mutations causing distal myopathy with rimmed vacuoles with inflammation.</strong>
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Zlotogora, J.
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<strong>Hereditary disorders among Iranian Jews.</strong>
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