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Entry
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- #600794 - NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 5; HMND5
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- OMIM
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<p>
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<span class="h4">#600794</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/600794"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS182960"> <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="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</h4>
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<div style="display: table-cell;">Clinical Resources</div>
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</a>
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<div><a href="https://clinicaltrials.gov/search?cond=NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT" 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=16916&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="#mimGeneReviewsFold" id="mimGeneReviewsToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling."><span id="mimGeneReviewsToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Gene Reviews</div>
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<div id="mimGeneReviewsFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.ncbi.nlm.nih.gov/books/NBK1242/" title="GARS-Associated Axonal Neuropathy" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">GARS-Associated Axonal Neu…</a></div><div style="margin-left: 0.5em;"><a href="https://www.ncbi.nlm.nih.gov/books/NBK1307/" title="BSCL2-Related Neurologic Disorders / Seipinopathy" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">BSCL2-Related Neurologic D…</a></div><div style="margin-left: 0.5em;"><a href="https://www.ncbi.nlm.nih.gov/books/NBK1358/" title="Charcot-Marie-Tooth Hereditary Neuropathy Overview" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Charcot-Marie-Tooth Heredi…</a></div>
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</div>
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<div><a href="https://www.diseaseinfosearch.org/x/8273" 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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=600794[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=139536" 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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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</a>
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</span>
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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:0111203" 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/600794" 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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<div><a href="https://wormbase.org/resources/disease/DOID:0111203" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</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> 1197152005<br />
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<strong>ORPHA:</strong> 139536<br />
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<strong>DO:</strong> 0111203<br />
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">ICD+</a>
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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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600794
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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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NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 5; HMND5
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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NEURONOPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE VA; HMN5A<br />
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HMN 5A<br />
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NEURONOPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE V; HMN5<br />
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NEUROPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE VA; DHMN5A<br />
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DHMN VA<br />
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SPINAL MUSCULAR ATROPHY, DISTAL, HARDING TYPE VA; DSMAVA<br />
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SPINAL MUSCULAR ATROPHY, DISTAL, HARDING TYPE V; DSMAV<br />
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SPINAL MUSCULAR ATROPHY, DISTAL, WITH UPPER LIMB PREDOMINANCE
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</span>
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</h4>
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<br />
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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Location
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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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<a href="/geneMap/7/165?start=-3&limit=10&highlight=165">
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7p14.3
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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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Neuronopathy, distal hereditary motor, autosomal dominant 5
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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/600794"> 600794 </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 dominant">AD</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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GARS1
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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/600287"> 600287 </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/600794" 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/PS182960" 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/600794" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/600794" 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 dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</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">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Feet </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Foot deformities <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/229844004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">229844004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0016506&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0016506</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001760" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001760</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001760" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001760</a>]</span><br /> -
|
|
Pes cavus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205091006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205091006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/36755004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">36755004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86900005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86900005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/736.73" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">736.73</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/754.71" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.71</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0728829&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0728829</a>, <a href="https://bioportal.bioontology.org/search?q=C0039273&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039273</a>, <a href="https://bioportal.bioontology.org/search?q=C2239098&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2239098</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001761" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001761</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001761" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001761</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=2ad12e53b20f47e5685234fa29da6610" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Pes_Cavus-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=2ad12e53b20f47e5685234fa29da6610" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Pes planus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/23407003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">23407003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/203534009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">203534009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/53226007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">53226007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M21.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M21.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.61" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.61</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/734" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">734</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0016202&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0016202</a>, <a href="https://bioportal.bioontology.org/search?q=C0392477&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0392477</a>, <a href="https://bioportal.bioontology.org/search?q=C0264133&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0264133</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001763" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001763</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001763" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001763</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=1f893093d35c2d1df583eed57a47b6cb" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Pes_Planus-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=1f893093d35c2d1df583eed57a47b6cb" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Hammertoes <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/122481008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">122481008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1136179&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1136179</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001765" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001765</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001765" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001765</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
<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> Peripheral Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Distal limb muscle weakness due to peripheral neuropathy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864696&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864696</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> <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><br /> -
|
|
Distal limb muscle atrophy due to peripheral neuropathy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864697&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864697</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 /> -
|
|
Thenar muscle weakness <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1832276&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1832276</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003427" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003427</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003427" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003427</a>]</span><br /> -
|
|
Thenar muscle atrophy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864715&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864715</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003393" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003393</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003393" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003393</a>]</span><br /> -
|
|
First dorsal interossei muscle weakness <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1832277&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1832277</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003392" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003392</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003392" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003392</a>]</span><br /> -
|
|
First dorsal interossei muscle atrophy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1832278&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1832278</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003426" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003426</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003426" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003426</a>]</span><br /> -
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|
Cold-induced hand cramps <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1832279&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1832279</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003435" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003435</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003435" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003435</a>]</span><br /> -
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Mildly reduced vibratory sense (in 10% of patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5435793&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5435793</a>]</span><br /> -
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|
Normal motor nerve conduction velocity (except in severely wasted muscles) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1833310&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1833310</a>]</span><br /> -
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Hyperreflexia (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86854008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86854008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151889&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151889</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001347</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001347</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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<div>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </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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- Onset in the first few decades of life<br /> -
|
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Predominantly upper limb weakness and atrophy<br /> -
|
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Slow disease progression <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854494&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854494</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003677</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003677</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> MOLECULAR BASIS </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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|
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- Caused by mutation in the glycyl tRNA synthetase gene (GARS, <a href="/entry/600287#0002">600287.0002</a>)<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 class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" 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 id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small">
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<div class="row">
|
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
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<h5>
|
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Neuronopathy, distal hereditary motor, autosomal dominant
|
|
- <a href="/phenotypicSeries/PS182960">PS182960</a>
|
|
- 15 Entries
|
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</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>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</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>
|
|
</th>
|
|
<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">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/118?start=-3&limit=10&highlight=118"> 2p23.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620080"> Neuronopathy, distal hereditary motor, autosomal dominant 10 </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/620080"> 620080 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/130660"> EMILIN1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/130660"> 130660 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/377?start=-3&limit=10&highlight=377"> 2p13.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607641"> Neuronopathy, distal hereditary motor, autosomal dominant 14 </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/607641"> 607641 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601143"> DCTN1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601143"> 601143 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/441?start=-3&limit=10&highlight=441"> 2p11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614751"> ?Neuronopathy, distal hereditary motor, autosomal dominant 12 </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/614751"> 614751 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609139"> REEP1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609139"> 609139 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/542?start=-3&limit=10&highlight=542"> 2q12.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/158580"> Neuronopathy, distal hereditary motor, autosomal dominant 7 </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/158580"> 158580 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608761"> SLC5A7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608761"> 608761 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/160?start=-3&limit=10&highlight=160"> 5q11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613376"> ?Neuronopathy, distal hereditary motor, autosomal dominant 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/613376"> 613376 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604624"> HSPB3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604624"> 604624 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/643?start=-3&limit=10&highlight=643"> 5q32 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615575"> Neuronopathy, distal hereditary motor, autosomal dominant 6 </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/615575"> 615575 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608533"> FBXO38 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608533"> 608533 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/165?start=-3&limit=10&highlight=165"> 7p14.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600794"> Neuronopathy, distal hereditary motor, autosomal dominant 5 </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/600794"> 600794 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600287"> GARS1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600287"> 600287 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/355?start=-3&limit=10&highlight=355"> 7q11.23 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608634"> Neuronopathy, distal hereditary motor, autosomal dominant 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/608634"> 608634 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602195"> HSPB1 </a>
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<a href="/entry/620528"> Neuronopathy, distal hereditary motor, autosomal dominant 11 </a>
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<a href="/entry/621094"> ?Neuronopathy, distal hereditary motor, autosomal dominant 15 </a>
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<a href="/entry/617721"> Neuronopathy, distal hereditary motor, autosomal dominant 9 </a>
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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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<p>A number sign (#) is used with this entry because of evidence that autosomal dominant distal hereditary motor neuronopathy-5 (HMND5) is caused by heterozygous mutation in the GARS gene (<a href="/entry/600287">600287</a>) on chromosome 7p14.</p><p>Heterozygous mutation in the GARS1 gene can also cause Charcot-Marie-Tooth disease type 2D (CMT2D; <a href="/entry/601472">601472</a>), which has some overlapping features.</p>
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<p>Autosomal dominant distal hereditary motor neuronopathy-5 (HMND5), also known as distal hereditary motor neuronopathy type VA (dHMN5A or HMN5A), is a neuromuscular disorder characterized by onset of distal muscle weakness and atrophy predominantly affecting the upper limbs in the first few decades of life. The disorder is slowly progressive, and most patients eventually have lower limb involvement with foot deformities. Although sensory impairment is uncommon, some patients show this feature, illustrating the phenotypic overlap with CMT2D. Rare patients may have pyramidal signs or hyperreflexia (summary by <a href="#3" class="mim-tip-reference" title="Christodoulou, K., Kyriakides, T., Hristova, A. H., Georgiou, D.-M., Kalaydjieva, L., Yshpekova, B., Ivanova, T., Weber, J. L., Middleton, L. T. <strong>Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p.</strong> Hum. Molec. Genet. 4: 1629-1632, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8541851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8541851</a>] [<a href="https://doi.org/10.1093/hmg/4.9.1629" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8541851">Christodoulou et al., 1995</a> and <a href="#4" class="mim-tip-reference" title="Dubourg, O., Azzedine, H., Ben Yaou, R., Pouget, J., Barois, A., Meininger, V., Bouteiller, D., Ruberg, M., Brice, A., LeGuern, E. <strong>The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V.</strong> Neurology 66: 1721-1726, 2006. Note: Erratum: Neurology, 67: 727 only, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16769947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16769947</a>] [<a href="https://doi.org/10.1212/01.wnl.0000218304.02715.04" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16769947">Dubourg et al., 2006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8541851+16769947" 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>For a discussion of genetic heterogeneity of autosomal dominant distal HMN, see HMND1 (<a href="/entry/182960">182960</a>).</p>
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<p><a href="#11" class="mim-tip-reference" title="Meadows, J. C., Marsden, C. D. <strong>A distal form of chronic spinal muscular atrophy.</strong> Neurology 19: 53-58, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5813127/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5813127</a>] [<a href="https://doi.org/10.1212/wnl.19.1.53" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5813127">Meadows and Marsden (1969)</a> reported 3 sibs with a form of distal muscular atrophy confined largely to the upper extremities. All had weakness of the hands since early childhood, manifest by difficulty writing. The condition worsened significantly much later in life, in the sixth and seventh decades. Hand weakness and atrophy were apparent in all, and 2 sibs had lower limb weakness with hyporeflexia/areflexia; the remaining sib had hyporeflexia/areflexia without lower limb weakness. EMG and muscle biopsy confirmed a neurogenic disorder. The mode of inheritance was unclear. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5813127" 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="Christodoulou, K., Kyriakides, T., Hristova, A. H., Georgiou, D.-M., Kalaydjieva, L., Yshpekova, B., Ivanova, T., Weber, J. L., Middleton, L. T. <strong>Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p.</strong> Hum. Molec. Genet. 4: 1629-1632, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8541851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8541851</a>] [<a href="https://doi.org/10.1093/hmg/4.9.1629" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8541851">Christodoulou et al. (1995)</a> identified a large 5-generation Bulgarian family from Burgass with an autosomal dominant distal spinal muscular atrophy (dSMA) with upper limb predominance. Afflicted members had weakness and wasting which was more prominent in the upper limbs and more selectively involved the thenar muscles and the first dorsal interossei. They had clinical information on 114 family members, of whom 30 were affected. The disease commenced with hand involvement at a mean age of 17 years (median 16 years). In 40% of patients, symptoms subsequently developed in their feet within about 2 years. In 1 branch of the family, mild pyramidal features and, rarely, up-going plantar responses were observed. There were no sensory symptoms or signs except for slightly reduced vibratory sense in the feet in 10% of the patients. Progression of the disease was very slow, with patients still ambulant at the age of 64. Electrophysiologic investigations showed reduced or, in severely wasted muscles, unobtainable compound motor action potentials. Motor conduction velocities and distal latencies were normal, except in severely wasted muscles, where the former were reduced. <a href="#3" class="mim-tip-reference" title="Christodoulou, K., Kyriakides, T., Hristova, A. H., Georgiou, D.-M., Kalaydjieva, L., Yshpekova, B., Ivanova, T., Weber, J. L., Middleton, L. T. <strong>Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p.</strong> Hum. Molec. Genet. 4: 1629-1632, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8541851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8541851</a>] [<a href="https://doi.org/10.1093/hmg/4.9.1629" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8541851">Christodoulou et al. (1995)</a> concluded that the family fell into the type V category of distal spinal muscular atrophy according to <a href="#7" class="mim-tip-reference" title="Harding, A. E. <strong>Inherited neuronal atrophy and degeneration predominantly of lower motor neurons. In: Dyck, P. J.; Thomas, P. K. (eds.): Peripheral Neuropathy. Vol. 2. (3rd ed.)</strong> Philadelphia: W. B. Saunders (pub.) 1993. Pp. 1051-1064."None>Harding (1993)</a>, who proposed a classification into 7 types of distal SMA according to their clinical and genetic features. The family was similar to the one reported by <a href="#10" class="mim-tip-reference" title="Lander, C. M., Eadie, M. J., Tyrer, J. H. <strong>Hereditary motor peripheral neuropathy predominantly affecting the arms.</strong> J. Neurol. Sci. 28: 389-394, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/180264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">180264</a>] [<a href="https://doi.org/10.1016/0022-510x(76)90032-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="180264">Lander et al. (1976)</a>, but differed in that weakness and wasting were more severe in the thenar muscles and first dorsal interossei. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=180264+8541851" 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="#12" class="mim-tip-reference" title="Sambuughin, N., Sivakumar, K., Selenge, B., Lee, H. S., Friedlich, D., Baasanjav, D., Dalakas, M. C., Goldfarb, L. G. <strong>Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot-Marie-Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15.</strong> J. Neurol. Sci. 161: 23-28, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9879677/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9879677</a>] [<a href="https://doi.org/10.1016/s0022-510x(98)00264-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9879677">Sambuughin et al. (1998)</a> reported a family in which autosomal dominant CMT2D and distal spinal muscular atrophy type V segregated in the same kindred. All 17 affected members had bilateral weakness and wasting in thenar and first dorsal interossei muscles starting commonly with cold-induced cramps in the hands in their late teens. The mean age at onset was 18 years (range 12 to 36) and progression of illness was very slow. DSMAV was diagnosed in 11 patients based on the presence of hand and peroneal muscle weakness and atrophy without sensory deficits. CMT2D was diagnosed in 6 other patients based on the presence of weakness and atrophy in the same muscle groups, hypoactive knee and ankle reflexes, stocking and glove distribution sensory loss, and reduced sensory nerve action potential amplitudes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9879677" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Antonellis, A., Ellsworth, R. E., Sambuughin, N., Puls, I., Abel, A., Lee-Lin, S.-Q., Jordanova, A., Kremensky, I., Christodoulou, K., Middleton, L. T., Sivakumar, K., Ionasescu, V., Funalot, B., Vance, J. M., Goldfarb, L. G., Fischbeck, K. H., Green, E. D. <strong>Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.</strong> Am. J. Hum. Genet. 72: 1293-1299, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12690580/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12690580</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12690580[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/375039" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12690580">Antonellis et al. (2003)</a> reported an Algerian Sephardic Jewish family with autosomal dominant DSMAV. A father and daughter had bilateral hand amyotrophy and weakness, particularly in the thenar and dorsal interosseus muscles. Motor and sensory nerve conduction velocities were normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12690580" 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="#6" class="mim-tip-reference" title="Forrester, N., Rattihalli, R., Horvath, R., Maggi, L., Manzur, A., Fuller, G., Gutowski, N., Rankin, J., Dick, D., Buxton, C., Greenslade, M., Majumdar, A. <strong>Clinical and genetic features in a series of eight unrelated patients with neuropathy due to glycyl-tRNA synthetase (GARS) variants.</strong> J. Neuromusc. Dis. 7: 137-143, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31985473/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31985473</a>] [<a href="https://doi.org/10.3233/JND-200472" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31985473">Forrester et al. (2020)</a> reported 7 unrelated probands (patients 1, 3-8) with peripheral neuropathy associated with heterozygous missense variants in the GARS1 gene that were identified through next-generation sequencing. Common features included distal muscle weakness and atrophy of the upper and lower limbs, often with pes cavus, hammertoes, or tight Achilles tendon. Patient 5 was an 11-year-old boy with frequent falls, hyporeflexia, pes cavus, and weakness and atrophy of the hand muscles. His father and paternal grandmother were similarly affected, and there was a family history of the disorder on the paternal side, although the severity was variable. Patient 8, who was 52 years old, was the only one to report sensory deficits with numbness of the hands and foot drop, suggestive of CMT2D. The authors noted the phenotypic variability both within families with the same mutation and between patients with different mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31985473" 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 HMN5A in the family reported by <a href="#3" class="mim-tip-reference" title="Christodoulou, K., Kyriakides, T., Hristova, A. H., Georgiou, D.-M., Kalaydjieva, L., Yshpekova, B., Ivanova, T., Weber, J. L., Middleton, L. T. <strong>Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p.</strong> Hum. Molec. Genet. 4: 1629-1632, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8541851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8541851</a>] [<a href="https://doi.org/10.1093/hmg/4.9.1629" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8541851">Christodoulou et al. (1995)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8541851" 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 3 French families with the disorder, <a href="#4" class="mim-tip-reference" title="Dubourg, O., Azzedine, H., Ben Yaou, R., Pouget, J., Barois, A., Meininger, V., Bouteiller, D., Ruberg, M., Brice, A., LeGuern, E. <strong>The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V.</strong> Neurology 66: 1721-1726, 2006. Note: Erratum: Neurology, 67: 727 only, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16769947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16769947</a>] [<a href="https://doi.org/10.1212/01.wnl.0000218304.02715.04" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16769947">Dubourg et al. (2006)</a> observed autosomal dominant inheritance with incomplete penetrance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16769947" 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>Linkage studies in the Bulgarian family reported by <a href="#3" class="mim-tip-reference" title="Christodoulou, K., Kyriakides, T., Hristova, A. H., Georgiou, D.-M., Kalaydjieva, L., Yshpekova, B., Ivanova, T., Weber, J. L., Middleton, L. T. <strong>Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p.</strong> Hum. Molec. Genet. 4: 1629-1632, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8541851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8541851</a>] [<a href="https://doi.org/10.1093/hmg/4.9.1629" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8541851">Christodoulou et al. (1995)</a> excluded the SMA locus (<a href="/entry/253300">253300</a>) on chromosome 5. Using more than 140 microsatellite polymorphic markers for a genome screen, <a href="#3" class="mim-tip-reference" title="Christodoulou, K., Kyriakides, T., Hristova, A. H., Georgiou, D.-M., Kalaydjieva, L., Yshpekova, B., Ivanova, T., Weber, J. L., Middleton, L. T. <strong>Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p.</strong> Hum. Molec. Genet. 4: 1629-1632, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8541851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8541851</a>] [<a href="https://doi.org/10.1093/hmg/4.9.1629" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8541851">Christodoulou et al. (1995)</a> found a maximum lod score of 5.99 at theta = 0.007 for locus D7S795 located on 7p. <a href="#12" class="mim-tip-reference" title="Sambuughin, N., Sivakumar, K., Selenge, B., Lee, H. S., Friedlich, D., Baasanjav, D., Dalakas, M. C., Goldfarb, L. G. <strong>Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot-Marie-Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15.</strong> J. Neurol. Sci. 161: 23-28, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9879677/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9879677</a>] [<a href="https://doi.org/10.1016/s0022-510x(98)00264-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9879677">Sambuughin et al. (1998)</a> mapped the disorder in their family to a region on 7p15 between markers D7S2496 and D7S1514. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8541851+9879677" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Ellsworth, R. E., Ionasescu, V., Searby, C., Sheffield, V. C., Braden, V. V., Kucaba, T. A., McPherson, J. D., Marra, M. A., Green, E. D. <strong>The CMT2D locus: refined genetic position and construction of a bacterial clone-based physical map.</strong> Genome Res. 9: 568-574, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10400924/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10400924</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10400924[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>]" pmid="10400924">Ellsworth et al. (1999)</a> performed a more detailed linkage analysis of the region on 7p and found overlap between the areas defined by <a href="#3" class="mim-tip-reference" title="Christodoulou, K., Kyriakides, T., Hristova, A. H., Georgiou, D.-M., Kalaydjieva, L., Yshpekova, B., Ivanova, T., Weber, J. L., Middleton, L. T. <strong>Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p.</strong> Hum. Molec. Genet. 4: 1629-1632, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8541851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8541851</a>] [<a href="https://doi.org/10.1093/hmg/4.9.1629" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8541851">Christodoulou et al. (1995)</a> and <a href="#12" class="mim-tip-reference" title="Sambuughin, N., Sivakumar, K., Selenge, B., Lee, H. S., Friedlich, D., Baasanjav, D., Dalakas, M. C., Goldfarb, L. G. <strong>Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot-Marie-Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15.</strong> J. Neurol. Sci. 161: 23-28, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9879677/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9879677</a>] [<a href="https://doi.org/10.1016/s0022-510x(98)00264-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9879677">Sambuughin et al. (1998)</a> and the area defined by <a href="#8" class="mim-tip-reference" title="Ionasescu, V., Searby, C., Sheffield, V. C., Roklina, T., Nishimura, D., Ionasescu, R. <strong>Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D).</strong> Hum. Molec. Genet. 5: 1373-1375, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8872480/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8872480</a>] [<a href="https://doi.org/10.1093/hmg/5.9.1373" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8872480">Ionasescu et al. (1996)</a> in a CMT2D family. <a href="#5" class="mim-tip-reference" title="Ellsworth, R. E., Ionasescu, V., Searby, C., Sheffield, V. C., Braden, V. V., Kucaba, T. A., McPherson, J. D., Marra, M. A., Green, E. D. <strong>The CMT2D locus: refined genetic position and construction of a bacterial clone-based physical map.</strong> Genome Res. 9: 568-574, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10400924/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10400924</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10400924[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>]" pmid="10400924">Ellsworth et al. (1999)</a> determined that the most likely location of the CMT2D gene is between markers D7S2496 and D7S632. They suggested that defects in a single gene account for the disease in all of the families. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8541851+9879677+10400924+8872480" 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="#9" class="mim-tip-reference" title="Irobi, J., De Jonghe, P., Timmerman, V. <strong>Molecular genetics of distal hereditary motor neuropathies.</strong> Hum. Molec. Genet. 13: R195-R202, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15358725/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15358725</a>] [<a href="https://doi.org/10.1093/hmg/ddh226" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15358725">Irobi et al. (2004)</a> reviewed the molecular genetics of the distal motor neuropathies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15358725" 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 affected members of the families with DSMAV reported by <a href="#3" class="mim-tip-reference" title="Christodoulou, K., Kyriakides, T., Hristova, A. H., Georgiou, D.-M., Kalaydjieva, L., Yshpekova, B., Ivanova, T., Weber, J. L., Middleton, L. T. <strong>Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p.</strong> Hum. Molec. Genet. 4: 1629-1632, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8541851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8541851</a>] [<a href="https://doi.org/10.1093/hmg/4.9.1629" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8541851">Christodoulou et al. (1995)</a> and <a href="#1" class="mim-tip-reference" title="Antonellis, A., Ellsworth, R. E., Sambuughin, N., Puls, I., Abel, A., Lee-Lin, S.-Q., Jordanova, A., Kremensky, I., Christodoulou, K., Middleton, L. T., Sivakumar, K., Ionasescu, V., Funalot, B., Vance, J. M., Goldfarb, L. G., Fischbeck, K. H., Green, E. D. <strong>Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.</strong> Am. J. Hum. Genet. 72: 1293-1299, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12690580/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12690580</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12690580[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/375039" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12690580">Antonellis et al. (2003)</a> and the family with both DSMAV and CMT2D reported by <a href="#12" class="mim-tip-reference" title="Sambuughin, N., Sivakumar, K., Selenge, B., Lee, H. S., Friedlich, D., Baasanjav, D., Dalakas, M. C., Goldfarb, L. G. <strong>Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot-Marie-Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15.</strong> J. Neurol. Sci. 161: 23-28, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9879677/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9879677</a>] [<a href="https://doi.org/10.1016/s0022-510x(98)00264-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9879677">Sambuughin et al. (1998)</a>, <a href="#1" class="mim-tip-reference" title="Antonellis, A., Ellsworth, R. E., Sambuughin, N., Puls, I., Abel, A., Lee-Lin, S.-Q., Jordanova, A., Kremensky, I., Christodoulou, K., Middleton, L. T., Sivakumar, K., Ionasescu, V., Funalot, B., Vance, J. M., Goldfarb, L. G., Fischbeck, K. H., Green, E. D. <strong>Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.</strong> Am. J. Hum. Genet. 72: 1293-1299, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12690580/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12690580</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12690580[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/375039" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12690580">Antonellis et al. (2003)</a> identified heterozygous missense mutations in the GARS gene (<a href="/entry/600287#0002">600287.0002</a>-<a href="/entry/600287#0004">600287.0004</a>) that segregated with the disorder in the families. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8541851+9879677+12690580" 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="Dubourg, O., Azzedine, H., Ben Yaou, R., Pouget, J., Barois, A., Meininger, V., Bouteiller, D., Ruberg, M., Brice, A., LeGuern, E. <strong>The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V.</strong> Neurology 66: 1721-1726, 2006. Note: Erratum: Neurology, 67: 727 only, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16769947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16769947</a>] [<a href="https://doi.org/10.1212/01.wnl.0000218304.02715.04" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16769947">Dubourg et al. (2006)</a> identified a heterozygous missense mutation in the GARS gene (G526R; <a href="/entry/600287#0004">600287.0004</a>) in 12 affected members from 3 French families of Sephardic Jewish origin with HMN type V. Four mutation carriers were clinically asymptomatic, suggesting incomplete penetrance. Most presented with distal upper limb involvement between the second and fourth decades; none had sensory involvement. Haplotype analysis suggested a founder effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16769947" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a patient (patient 1) and his mother with HMN5A, <a href="#2" class="mim-tip-reference" title="Boczonadi, V., Meyer, K., Gonczarowska-Jorge, H., Griffin, H., Roos, A., Bartsakoulia, M., Bansagi, B., Ricci, G., Palinkas, F., Zahedi, R. P., Bruni, F., Kaspar, B., Lochmuller, H., Boycott, K. M., Muller, J. S., Horvath, R. <strong>Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons.</strong> Hum. Molec. Genet. 27: 2187-2204, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29648643/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29648643</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29648643[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddy127" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29648643">Boczonadi et al. (2018)</a> identified a heterozygous missense mutation in the GARS1 gene (H216R; <a href="/entry/600287#0008">600287.0008</a>). The mutation was identified through sequencing of a gene panel. Patient fibroblasts did not show a defect in mitochondrial translation, but detailed studies on induced neuronal progenitor cells derived from patient fibroblasts showed decreased levels of mitochondrial respiratory chain complexes, impaired mitochondrial respiration and metabolism, defects in calcium flux dynamics, and increased autophagic vacuoles. These findings were consistent with tissue-specific effects of the mutation; the authors postulated a dominant gain-of-function mechanism. The patients had onset of upper limb-predominant distal neuropathy in their early twenties. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29648643" 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 unrelated patients with DMHN5A, <a href="#6" class="mim-tip-reference" title="Forrester, N., Rattihalli, R., Horvath, R., Maggi, L., Manzur, A., Fuller, G., Gutowski, N., Rankin, J., Dick, D., Buxton, C., Greenslade, M., Majumdar, A. <strong>Clinical and genetic features in a series of eight unrelated patients with neuropathy due to glycyl-tRNA synthetase (GARS) variants.</strong> J. Neuromusc. Dis. 7: 137-143, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31985473/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31985473</a>] [<a href="https://doi.org/10.3233/JND-200472" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31985473">Forrester et al. (2020)</a> identified heterozygous missense variants in the GARS1 gene (see, e.g., H472R; <a href="/entry/600287#0013">600287.0013</a>). The mutations, which were found by next-generation sequencing and confirmed by Sanger sequencing, segregated with the disorder in affected family members of 6 probands, whereas it occurred de novo in 1 patient. Although functional studies of the variants were not performed, 3 (H216R, G327R, and H472R) were classified as pathogenic or likely pathogenic, and 3 were considered to be of uncertain pathogenic significance (R27P, K510Q, and M555V), according to ACMG criteria. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31985473" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Sobue1978" class="mim-tip-reference" title="Sobue, I., Saito, N., Iida, M., Ando, K. <strong>Juvenile type of distal and segmental muscular atrophy of upper extremities.</strong> Ann. Neurol. 3: 429-432, 1978.">Sobue et al. (1978)</a>
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Antonellis, A., Ellsworth, R. E., Sambuughin, N., Puls, I., Abel, A., Lee-Lin, S.-Q., Jordanova, A., Kremensky, I., Christodoulou, K., Middleton, L. T., Sivakumar, K., Ionasescu, V., Funalot, B., Vance, J. M., Goldfarb, L. G., Fischbeck, K. H., Green, E. D.
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<strong>Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.</strong>
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Am. J. Hum. Genet. 72: 1293-1299, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12690580/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12690580</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12690580[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12690580" 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/10.1086/375039" target="_blank">Full Text</a>]
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Boczonadi, V., Meyer, K., Gonczarowska-Jorge, H., Griffin, H., Roos, A., Bartsakoulia, M., Bansagi, B., Ricci, G., Palinkas, F., Zahedi, R. P., Bruni, F., Kaspar, B., Lochmuller, H., Boycott, K. M., Muller, J. S., Horvath, R.
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<strong>Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons.</strong>
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Hum. Molec. Genet. 27: 2187-2204, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29648643/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29648643</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29648643[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29648643" 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/ddy127" target="_blank">Full Text</a>]
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Christodoulou, K., Kyriakides, T., Hristova, A. H., Georgiou, D.-M., Kalaydjieva, L., Yshpekova, B., Ivanova, T., Weber, J. L., Middleton, L. T.
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<strong>Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p.</strong>
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Hum. Molec. Genet. 4: 1629-1632, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8541851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8541851</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8541851" 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/4.9.1629" target="_blank">Full Text</a>]
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Dubourg, O., Azzedine, H., Ben Yaou, R., Pouget, J., Barois, A., Meininger, V., Bouteiller, D., Ruberg, M., Brice, A., LeGuern, E.
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<strong>The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V.</strong>
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Neurology 66: 1721-1726, 2006. Note: Erratum: Neurology, 67: 727 only, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16769947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16769947</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16769947" 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.0000218304.02715.04" target="_blank">Full Text</a>]
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Ellsworth, R. E., Ionasescu, V., Searby, C., Sheffield, V. C., Braden, V. V., Kucaba, T. A., McPherson, J. D., Marra, M. A., Green, E. D.
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<strong>The CMT2D locus: refined genetic position and construction of a bacterial clone-based physical map.</strong>
|
|
Genome Res. 9: 568-574, 1999.
|
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10400924/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10400924</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10400924[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10400924" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Forrester, N., Rattihalli, R., Horvath, R., Maggi, L., Manzur, A., Fuller, G., Gutowski, N., Rankin, J., Dick, D., Buxton, C., Greenslade, M., Majumdar, A.
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<strong>Clinical and genetic features in a series of eight unrelated patients with neuropathy due to glycyl-tRNA synthetase (GARS) variants.</strong>
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J. Neuromusc. Dis. 7: 137-143, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31985473/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31985473</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31985473" 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/10.3233/JND-200472" target="_blank">Full Text</a>]
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<a id="Harding1993" class="mim-anchor"></a>
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Harding, A. E.
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<strong>Inherited neuronal atrophy and degeneration predominantly of lower motor neurons. In: Dyck, P. J.; Thomas, P. K. (eds.): Peripheral Neuropathy. Vol. 2. (3rd ed.)</strong>
|
|
Philadelphia: W. B. Saunders (pub.) 1993. Pp. 1051-1064.
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Ionasescu, V., Searby, C., Sheffield, V. C., Roklina, T., Nishimura, D., Ionasescu, R.
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<strong>Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D).</strong>
|
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Hum. Molec. Genet. 5: 1373-1375, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8872480/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8872480</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8872480" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/5.9.1373" target="_blank">Full Text</a>]
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<a id="9" class="mim-anchor"></a>
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<a id="Irobi2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Irobi, J., De Jonghe, P., Timmerman, V.
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<strong>Molecular genetics of distal hereditary motor neuropathies.</strong>
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Hum. Molec. Genet. 13: R195-R202, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15358725/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15358725</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15358725" 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/ddh226" target="_blank">Full Text</a>]
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<a id="10" class="mim-anchor"></a>
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<a id="Lander1976" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lander, C. M., Eadie, M. J., Tyrer, J. H.
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<strong>Hereditary motor peripheral neuropathy predominantly affecting the arms.</strong>
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J. Neurol. Sci. 28: 389-394, 1976.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/180264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">180264</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=180264" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0022-510x(76)90032-0" target="_blank">Full Text</a>]
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<a id="11" class="mim-anchor"></a>
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<a id="Meadows1969" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Meadows, J. C., Marsden, C. D.
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<strong>A distal form of chronic spinal muscular atrophy.</strong>
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Neurology 19: 53-58, 1969.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5813127/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5813127</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5813127" 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.19.1.53" target="_blank">Full Text</a>]
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<a id="12" class="mim-anchor"></a>
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<a id="Sambuughin1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sambuughin, N., Sivakumar, K., Selenge, B., Lee, H. S., Friedlich, D., Baasanjav, D., Dalakas, M. C., Goldfarb, L. G.
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<strong>Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot-Marie-Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15.</strong>
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J. Neurol. Sci. 161: 23-28, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9879677/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9879677</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9879677" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0022-510x(98)00264-0" target="_blank">Full Text</a>]
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<a id="13" class="mim-anchor"></a>
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<a id="Sobue1978" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sobue, I., Saito, N., Iida, M., Ando, K.
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<strong>Juvenile type of distal and segmental muscular atrophy of upper extremities.</strong>
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Ann. Neurol. 3: 429-432, 1978.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/727722/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">727722</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=727722" 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.410030512" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 12/01/2020
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 10/08/2020<br>Cassandra L. Kniffin - updated : 3/18/2010<br>Cassandra L. Kniffin - updated : 12/10/2009<br>Cassandra L. Kniffin - updated : 4/4/2008<br>Cassandra L. Kniffin - updated : 6/12/2007<br>George E. Tiller - updated : 4/5/2007<br>Cassandra L. Kniffin - updated : 2/27/2004<br>Cassandra L. Kniffin - reorganized : 4/18/2003<br>Cassandra L. Kniffin - updated : 4/18/2003<br>Victor A. McKusick - updated : 8/5/1999
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 9/23/1995
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 10/18/2023
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<div class="row collapse" id="mimCollapseEditHistory">
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<span class="mim-text-font">
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alopez : 10/17/2023<br>ckniffin : 10/11/2023<br>alopez : 12/17/2020<br>ckniffin : 12/01/2020<br>alopez : 10/15/2020<br>ckniffin : 10/08/2020<br>alopez : 04/11/2018<br>carol : 09/12/2016<br>carol : 07/09/2016<br>carol : 1/2/2014<br>carol : 1/2/2014<br>terry : 9/7/2012<br>carol : 8/1/2012<br>ckniffin : 7/31/2012<br>wwang : 3/23/2010<br>ckniffin : 3/18/2010<br>wwang : 12/28/2009<br>ckniffin : 12/10/2009<br>ckniffin : 10/1/2008<br>wwang : 4/14/2008<br>ckniffin : 4/4/2008<br>wwang : 6/28/2007<br>ckniffin : 6/12/2007<br>ckniffin : 6/8/2007<br>alopez : 4/17/2007<br>terry : 4/5/2007<br>carol : 3/16/2007<br>ckniffin : 3/16/2007<br>carol : 5/14/2004<br>ckniffin : 5/3/2004<br>ckniffin : 3/29/2004<br>ckniffin : 3/29/2004<br>carol : 3/1/2004<br>ckniffin : 2/27/2004<br>tkritzer : 2/25/2004<br>tkritzer : 2/17/2004<br>alopez : 4/30/2003<br>carol : 4/18/2003<br>carol : 4/18/2003<br>ckniffin : 4/17/2003<br>ckniffin : 4/14/2003<br>jlewis : 8/26/1999<br>terry : 8/5/1999<br>mimadm : 11/3/1995<br>terry : 10/30/1995<br>mark : 9/23/1995
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<h3>
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<span class="mim-font">
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<strong>#</strong> 600794
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</span>
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</h3>
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<div>
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<h3>
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NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 5; HMND5
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<div>
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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NEURONOPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE VA; HMN5A<br />
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HMN 5A<br />
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NEURONOPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE V; HMN5<br />
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NEUROPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE VA; DHMN5A<br />
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DHMN VA<br />
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SPINAL MUSCULAR ATROPHY, DISTAL, HARDING TYPE VA; DSMAVA<br />
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SPINAL MUSCULAR ATROPHY, DISTAL, HARDING TYPE V; DSMAV<br />
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SPINAL MUSCULAR ATROPHY, DISTAL, WITH UPPER LIMB PREDOMINANCE
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</span>
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</h4>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 1197152005;
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<strong>ORPHA:</strong> 139536;
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<strong>DO:</strong> 0111203;
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</span>
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<h4>
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<span class="mim-font">
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<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 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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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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7p14.3
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</td>
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<td>
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<span class="mim-font">
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Neuronopathy, distal hereditary motor, autosomal dominant 5
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</td>
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<td>
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<span class="mim-font">
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600794
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<td>
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<span class="mim-font">
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GARS1
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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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600287
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</td>
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</tbody>
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</table>
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<div>
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<br />
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that autosomal dominant distal hereditary motor neuronopathy-5 (HMND5) is caused by heterozygous mutation in the GARS gene (600287) on chromosome 7p14.</p><p>Heterozygous mutation in the GARS1 gene can also cause Charcot-Marie-Tooth disease type 2D (CMT2D; 601472), which has some overlapping 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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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Autosomal dominant distal hereditary motor neuronopathy-5 (HMND5), also known as distal hereditary motor neuronopathy type VA (dHMN5A or HMN5A), is a neuromuscular disorder characterized by onset of distal muscle weakness and atrophy predominantly affecting the upper limbs in the first few decades of life. The disorder is slowly progressive, and most patients eventually have lower limb involvement with foot deformities. Although sensory impairment is uncommon, some patients show this feature, illustrating the phenotypic overlap with CMT2D. Rare patients may have pyramidal signs or hyperreflexia (summary by Christodoulou et al., 1995 and Dubourg et al., 2006). </p><p>For a discussion of genetic heterogeneity of autosomal dominant distal HMN, see HMND1 (182960).</p>
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</span>
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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>Clinical Features</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>Meadows and Marsden (1969) reported 3 sibs with a form of distal muscular atrophy confined largely to the upper extremities. All had weakness of the hands since early childhood, manifest by difficulty writing. The condition worsened significantly much later in life, in the sixth and seventh decades. Hand weakness and atrophy were apparent in all, and 2 sibs had lower limb weakness with hyporeflexia/areflexia; the remaining sib had hyporeflexia/areflexia without lower limb weakness. EMG and muscle biopsy confirmed a neurogenic disorder. The mode of inheritance was unclear. </p><p>Christodoulou et al. (1995) identified a large 5-generation Bulgarian family from Burgass with an autosomal dominant distal spinal muscular atrophy (dSMA) with upper limb predominance. Afflicted members had weakness and wasting which was more prominent in the upper limbs and more selectively involved the thenar muscles and the first dorsal interossei. They had clinical information on 114 family members, of whom 30 were affected. The disease commenced with hand involvement at a mean age of 17 years (median 16 years). In 40% of patients, symptoms subsequently developed in their feet within about 2 years. In 1 branch of the family, mild pyramidal features and, rarely, up-going plantar responses were observed. There were no sensory symptoms or signs except for slightly reduced vibratory sense in the feet in 10% of the patients. Progression of the disease was very slow, with patients still ambulant at the age of 64. Electrophysiologic investigations showed reduced or, in severely wasted muscles, unobtainable compound motor action potentials. Motor conduction velocities and distal latencies were normal, except in severely wasted muscles, where the former were reduced. Christodoulou et al. (1995) concluded that the family fell into the type V category of distal spinal muscular atrophy according to Harding (1993), who proposed a classification into 7 types of distal SMA according to their clinical and genetic features. The family was similar to the one reported by Lander et al. (1976), but differed in that weakness and wasting were more severe in the thenar muscles and first dorsal interossei. </p><p>Sambuughin et al. (1998) reported a family in which autosomal dominant CMT2D and distal spinal muscular atrophy type V segregated in the same kindred. All 17 affected members had bilateral weakness and wasting in thenar and first dorsal interossei muscles starting commonly with cold-induced cramps in the hands in their late teens. The mean age at onset was 18 years (range 12 to 36) and progression of illness was very slow. DSMAV was diagnosed in 11 patients based on the presence of hand and peroneal muscle weakness and atrophy without sensory deficits. CMT2D was diagnosed in 6 other patients based on the presence of weakness and atrophy in the same muscle groups, hypoactive knee and ankle reflexes, stocking and glove distribution sensory loss, and reduced sensory nerve action potential amplitudes. </p><p>Antonellis et al. (2003) reported an Algerian Sephardic Jewish family with autosomal dominant DSMAV. A father and daughter had bilateral hand amyotrophy and weakness, particularly in the thenar and dorsal interosseus muscles. Motor and sensory nerve conduction velocities were normal. </p><p>Forrester et al. (2020) reported 7 unrelated probands (patients 1, 3-8) with peripheral neuropathy associated with heterozygous missense variants in the GARS1 gene that were identified through next-generation sequencing. Common features included distal muscle weakness and atrophy of the upper and lower limbs, often with pes cavus, hammertoes, or tight Achilles tendon. Patient 5 was an 11-year-old boy with frequent falls, hyporeflexia, pes cavus, and weakness and atrophy of the hand muscles. His father and paternal grandmother were similarly affected, and there was a family history of the disorder on the paternal side, although the severity was variable. Patient 8, who was 52 years old, was the only one to report sensory deficits with numbness of the hands and foot drop, suggestive of CMT2D. The authors noted the phenotypic variability both within families with the same mutation and between patients with different mutations. </p>
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<p>The transmission pattern of HMN5A in the family reported by Christodoulou et al. (1995) was consistent with autosomal dominant inheritance. </p><p>In 3 French families with the disorder, Dubourg et al. (2006) observed autosomal dominant inheritance with incomplete penetrance. </p>
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<strong>Mapping</strong>
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<p>Linkage studies in the Bulgarian family reported by Christodoulou et al. (1995) excluded the SMA locus (253300) on chromosome 5. Using more than 140 microsatellite polymorphic markers for a genome screen, Christodoulou et al. (1995) found a maximum lod score of 5.99 at theta = 0.007 for locus D7S795 located on 7p. Sambuughin et al. (1998) mapped the disorder in their family to a region on 7p15 between markers D7S2496 and D7S1514. </p><p>Ellsworth et al. (1999) performed a more detailed linkage analysis of the region on 7p and found overlap between the areas defined by Christodoulou et al. (1995) and Sambuughin et al. (1998) and the area defined by Ionasescu et al. (1996) in a CMT2D family. Ellsworth et al. (1999) determined that the most likely location of the CMT2D gene is between markers D7S2496 and D7S632. They suggested that defects in a single gene account for the disease in all of the families. </p>
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<strong>Molecular Genetics</strong>
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<p>Irobi et al. (2004) reviewed the molecular genetics of the distal motor neuropathies. </p><p>In affected members of the families with DSMAV reported by Christodoulou et al. (1995) and Antonellis et al. (2003) and the family with both DSMAV and CMT2D reported by Sambuughin et al. (1998), Antonellis et al. (2003) identified heterozygous missense mutations in the GARS gene (600287.0002-600287.0004) that segregated with the disorder in the families. </p><p>Dubourg et al. (2006) identified a heterozygous missense mutation in the GARS gene (G526R; 600287.0004) in 12 affected members from 3 French families of Sephardic Jewish origin with HMN type V. Four mutation carriers were clinically asymptomatic, suggesting incomplete penetrance. Most presented with distal upper limb involvement between the second and fourth decades; none had sensory involvement. Haplotype analysis suggested a founder effect. </p><p>In a patient (patient 1) and his mother with HMN5A, Boczonadi et al. (2018) identified a heterozygous missense mutation in the GARS1 gene (H216R; 600287.0008). The mutation was identified through sequencing of a gene panel. Patient fibroblasts did not show a defect in mitochondrial translation, but detailed studies on induced neuronal progenitor cells derived from patient fibroblasts showed decreased levels of mitochondrial respiratory chain complexes, impaired mitochondrial respiration and metabolism, defects in calcium flux dynamics, and increased autophagic vacuoles. These findings were consistent with tissue-specific effects of the mutation; the authors postulated a dominant gain-of-function mechanism. The patients had onset of upper limb-predominant distal neuropathy in their early twenties. </p><p>In 7 unrelated patients with DMHN5A, Forrester et al. (2020) identified heterozygous missense variants in the GARS1 gene (see, e.g., H472R; 600287.0013). The mutations, which were found by next-generation sequencing and confirmed by Sanger sequencing, segregated with the disorder in affected family members of 6 probands, whereas it occurred de novo in 1 patient. Although functional studies of the variants were not performed, 3 (H216R, G327R, and H472R) were classified as pathogenic or likely pathogenic, and 3 were considered to be of uncertain pathogenic significance (R27P, K510Q, and M555V), according to ACMG criteria. </p>
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Sobue et al. (1978)
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<span class="mim-font">
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<strong>REFERENCES</strong>
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Antonellis, A., Ellsworth, R. E., Sambuughin, N., Puls, I., Abel, A., Lee-Lin, S.-Q., Jordanova, A., Kremensky, I., Christodoulou, K., Middleton, L. T., Sivakumar, K., Ionasescu, V., Funalot, B., Vance, J. M., Goldfarb, L. G., Fischbeck, K. H., Green, E. D.
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<strong>Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.</strong>
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Am. J. Hum. Genet. 72: 1293-1299, 2003.
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[PubMed: 12690580]
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[Full Text: https://doi.org/10.1086/375039]
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Boczonadi, V., Meyer, K., Gonczarowska-Jorge, H., Griffin, H., Roos, A., Bartsakoulia, M., Bansagi, B., Ricci, G., Palinkas, F., Zahedi, R. P., Bruni, F., Kaspar, B., Lochmuller, H., Boycott, K. M., Muller, J. S., Horvath, R.
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<strong>Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons.</strong>
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Hum. Molec. Genet. 27: 2187-2204, 2018.
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[PubMed: 29648643]
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[Full Text: https://doi.org/10.1093/hmg/ddy127]
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Christodoulou, K., Kyriakides, T., Hristova, A. H., Georgiou, D.-M., Kalaydjieva, L., Yshpekova, B., Ivanova, T., Weber, J. L., Middleton, L. T.
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<strong>Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p.</strong>
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Hum. Molec. Genet. 4: 1629-1632, 1995.
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[PubMed: 8541851]
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[Full Text: https://doi.org/10.1093/hmg/4.9.1629]
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Dubourg, O., Azzedine, H., Ben Yaou, R., Pouget, J., Barois, A., Meininger, V., Bouteiller, D., Ruberg, M., Brice, A., LeGuern, E.
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<strong>The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V.</strong>
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Neurology 66: 1721-1726, 2006. Note: Erratum: Neurology, 67: 727 only, 2006.
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[PubMed: 16769947]
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[Full Text: https://doi.org/10.1212/01.wnl.0000218304.02715.04]
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Ellsworth, R. E., Ionasescu, V., Searby, C., Sheffield, V. C., Braden, V. V., Kucaba, T. A., McPherson, J. D., Marra, M. A., Green, E. D.
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<strong>The CMT2D locus: refined genetic position and construction of a bacterial clone-based physical map.</strong>
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Genome Res. 9: 568-574, 1999.
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[PubMed: 10400924]
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Forrester, N., Rattihalli, R., Horvath, R., Maggi, L., Manzur, A., Fuller, G., Gutowski, N., Rankin, J., Dick, D., Buxton, C., Greenslade, M., Majumdar, A.
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<strong>Clinical and genetic features in a series of eight unrelated patients with neuropathy due to glycyl-tRNA synthetase (GARS) variants.</strong>
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J. Neuromusc. Dis. 7: 137-143, 2020.
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[PubMed: 31985473]
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[Full Text: https://doi.org/10.3233/JND-200472]
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Harding, A. E.
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<strong>Inherited neuronal atrophy and degeneration predominantly of lower motor neurons. In: Dyck, P. J.; Thomas, P. K. (eds.): Peripheral Neuropathy. Vol. 2. (3rd ed.)</strong>
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Philadelphia: W. B. Saunders (pub.) 1993. Pp. 1051-1064.
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Ionasescu, V., Searby, C., Sheffield, V. C., Roklina, T., Nishimura, D., Ionasescu, R.
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<strong>Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D).</strong>
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Hum. Molec. Genet. 5: 1373-1375, 1996.
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[PubMed: 8872480]
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[Full Text: https://doi.org/10.1093/hmg/5.9.1373]
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Irobi, J., De Jonghe, P., Timmerman, V.
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<strong>Molecular genetics of distal hereditary motor neuropathies.</strong>
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Hum. Molec. Genet. 13: R195-R202, 2004.
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[PubMed: 15358725]
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[Full Text: https://doi.org/10.1093/hmg/ddh226]
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Lander, C. M., Eadie, M. J., Tyrer, J. H.
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<strong>Hereditary motor peripheral neuropathy predominantly affecting the arms.</strong>
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J. Neurol. Sci. 28: 389-394, 1976.
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[PubMed: 180264]
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[Full Text: https://doi.org/10.1016/0022-510x(76)90032-0]
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Meadows, J. C., Marsden, C. D.
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<strong>A distal form of chronic spinal muscular atrophy.</strong>
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Neurology 19: 53-58, 1969.
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[PubMed: 5813127]
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[Full Text: https://doi.org/10.1212/wnl.19.1.53]
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Sambuughin, N., Sivakumar, K., Selenge, B., Lee, H. S., Friedlich, D., Baasanjav, D., Dalakas, M. C., Goldfarb, L. G.
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<strong>Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot-Marie-Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15.</strong>
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J. Neurol. Sci. 161: 23-28, 1998.
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[PubMed: 9879677]
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[Full Text: https://doi.org/10.1016/s0022-510x(98)00264-0]
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Sobue, I., Saito, N., Iida, M., Ando, K.
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<strong>Juvenile type of distal and segmental muscular atrophy of upper extremities.</strong>
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Ann. Neurol. 3: 429-432, 1978.
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[PubMed: 727722]
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[Full Text: https://doi.org/10.1002/ana.410030512]
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Cassandra L. Kniffin - updated : 12/01/2020<br>Cassandra L. Kniffin - updated : 10/08/2020<br>Cassandra L. Kniffin - updated : 3/18/2010<br>Cassandra L. Kniffin - updated : 12/10/2009<br>Cassandra L. Kniffin - updated : 4/4/2008<br>Cassandra L. Kniffin - updated : 6/12/2007<br>George E. Tiller - updated : 4/5/2007<br>Cassandra L. Kniffin - updated : 2/27/2004<br>Cassandra L. Kniffin - reorganized : 4/18/2003<br>Cassandra L. Kniffin - updated : 4/18/2003<br>Victor A. McKusick - updated : 8/5/1999
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Victor A. McKusick : 9/23/1995
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alopez : 10/18/2023<br>alopez : 10/17/2023<br>ckniffin : 10/11/2023<br>alopez : 12/17/2020<br>ckniffin : 12/01/2020<br>alopez : 10/15/2020<br>ckniffin : 10/08/2020<br>alopez : 04/11/2018<br>carol : 09/12/2016<br>carol : 07/09/2016<br>carol : 1/2/2014<br>carol : 1/2/2014<br>terry : 9/7/2012<br>carol : 8/1/2012<br>ckniffin : 7/31/2012<br>wwang : 3/23/2010<br>ckniffin : 3/18/2010<br>wwang : 12/28/2009<br>ckniffin : 12/10/2009<br>ckniffin : 10/1/2008<br>wwang : 4/14/2008<br>ckniffin : 4/4/2008<br>wwang : 6/28/2007<br>ckniffin : 6/12/2007<br>ckniffin : 6/8/2007<br>alopez : 4/17/2007<br>terry : 4/5/2007<br>carol : 3/16/2007<br>ckniffin : 3/16/2007<br>carol : 5/14/2004<br>ckniffin : 5/3/2004<br>ckniffin : 3/29/2004<br>ckniffin : 3/29/2004<br>carol : 3/1/2004<br>ckniffin : 2/27/2004<br>tkritzer : 2/25/2004<br>tkritzer : 2/17/2004<br>alopez : 4/30/2003<br>carol : 4/18/2003<br>carol : 4/18/2003<br>ckniffin : 4/17/2003<br>ckniffin : 4/14/2003<br>jlewis : 8/26/1999<br>terry : 8/5/1999<br>mimadm : 11/3/1995<br>terry : 10/30/1995<br>mark : 9/23/1995
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OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
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