2227 lines
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Entry
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- #300489 - NEURONOPATHY, DISTAL HEREDITARY MOTOR, X-LINKED; HMNX
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- OMIM
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<p>
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<span class="h4">#300489</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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<li role="presentation">
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/300489"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#clinicalFeatures">Clinical Features</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="#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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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=16919&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1413/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/8276" 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=300489[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=139557" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div style="display: table-cell;">Animal Models</div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111196" 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/300489" 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:0111196" 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 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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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 766764008<br />
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<strong>ORPHA:</strong> 139557<br />
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<strong>DO:</strong> 0111196<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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300489
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</span>
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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, X-LINKED; HMNX
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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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</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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NEUROPATHY, DISTAL HEREDITARY MOTOR, X-LINKED<br />
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SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3; SMAX3<br />
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SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE<br />
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DSMAX
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<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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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/X/450?start=-3&limit=10&highlight=450">
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Xq21.1
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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, X-linked
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<td>
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<span class="mim-font">
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<a href="/entry/300489"> 300489 </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="X-linked recessive">XLR</abbr>
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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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</td>
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<td>
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<span class="mim-font">
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ATP7A
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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/300011"> 300011 </a>
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</span>
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</td>
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</tr>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/300489" 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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<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/300489" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/300489" 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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- X-linked recessive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845977&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845977</a>, <a href="https://bioportal.bioontology.org/search?q=C1279481&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1279481</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</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> SKELETAL </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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<div>
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<span class="h5 mim-font">
|
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<em> Feet </em>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
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|
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- 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 varus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/766243008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">766243008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/275345001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">275345001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249809005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249809005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42162004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42162004</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.50</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/754.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551569&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551569</a>, <a href="https://bioportal.bioontology.org/search?q=C0410773&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0410773</a>, <a href="https://bioportal.bioontology.org/search?q=C0158722&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158722</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025802" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025802</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
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|
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</div>
|
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|
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</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> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Gait instability <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22631008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22631008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0231686&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0231686</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002317" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002317</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002317" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002317</a>]</span><br /> -
|
|
Muscle weakness, distal <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249942005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249942005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0427065&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0427065</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002460" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002460</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002460" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002460</a>]</span><br /> -
|
|
Muscle atrophy, distal <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848736&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848736</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003693" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003693</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003693" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003693</a>]</span><br /> -
|
|
Lower limbs affected before upper limbs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845360&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845360</a>]</span><br /> -
|
|
Hyporeflexia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/835279003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">835279003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405946002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405946002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0700078&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700078</a>, <a href="https://bioportal.bioontology.org/search?q=C0151888&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151888</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001265" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001265</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001315" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001315</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001265" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001265</a>]</span><br /> -
|
|
EMG shows neurogenic changes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843506&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843506</a>]</span><br /> -
|
|
Muscle biopsy shows neurogenic changes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845361&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845361</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
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|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Peripheral Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Peripheral nerve biopsy is normal <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845362</a>]</span><br /> -
|
|
Mild distal sensory impairment (in some) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2676708&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2676708</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002936" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002936</a>]</span><br />
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|
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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">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Onset in first decade<br /> -
|
|
Adult onset may also occur<br /> -
|
|
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 /> -
|
|
Affected individuals remain ambulatory in old age<br />
|
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|
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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>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the ATPase, Cu(2+)-transporting, alpha polypeptide (ATP7A, <a href="/entry/300011#0015">300011.0015</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>
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<p>A number sign (#) is used with this entry because X-linked distal hereditary motor neuronopathy (HMNX) is caused by mutation in the copper transport gene ATP7A (<a href="/entry/300011">300011</a>) on Xq21.</p><p>For a discussion of genetic heterogeneity of distal hereditary motor neuronopathy, see HMND1 (<a href="/entry/182960">182960</a>).</p>
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<p><a href="#3" class="mim-tip-reference" title="Takata, R. I., Speck Martins, C. E., Passosbueno, M. R., Abe, K. T., Nishimura, A. L., Morvalina Da Silva, M. D., Monteiro, A., Jr., Lima, M. I., Kok, F., Zatz, M. <strong>A new locus for recessive distal spinal muscular atrophy at Xq13.1-q21.</strong> J. Med. Genet. 41: 224-229, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14985388/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14985388</a>] [<a href="https://doi.org/10.1136/jmg.2003.013201" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14985388">Takata et al. (2004)</a> reported a white Brazilian family in which 17 males were affected with a distal form of spinal muscular atrophy affecting both the upper and lower limbs. The disorder was transmitted in an X-linked recessive pattern of inheritance. In 6 of 9 patients who were examined, age at onset ranged from 1 to 10 years, and the first detected symptom was foot deformity (pes cavus or pes varus); gait instability was reported in 2 other individuals. Subsequently, distal lower limb weakness and atrophy were observed, and finally, the hands were affected. Despite the large clinical variability, the disease progression was very slow and independent gait was maintained even late in life. There was no cognitive, pyramidal, or sensory impairment. EMG showed chronic denervation, muscle biopsy showed a neurogenic pattern, and sural nerve biopsy was normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14985388" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Kennerson, M., Nicholson, G., Kowalski, B., Krajewski, K., El-Khechen, D., Feely, S., Chu, S., Shy, M., Garbern, J. <strong>X-linked distal hereditary motor neuropathy maps to the DSMAX locus on chromosome Xq13.1-q21.</strong> Neurology 72: 246-252, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19153371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19153371</a>] [<a href="https://doi.org/10.1212/01.wnl.0000339483.86094.a5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19153371">Kennerson et al. (2009)</a> reported a 3-generation family with X-linked distal motor neuropathy. Age at onset ranged from 10 to 30 years and was characterized by distal motor weakness particularly of the lower limbs that resulted in gait abnormalities and atrophy of lower limb muscles. There was either little or no sensory involvement in affected individuals. Obligate female heterozygotes were unaffected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19153371" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In the family reported by <a href="#3" class="mim-tip-reference" title="Takata, R. I., Speck Martins, C. E., Passosbueno, M. R., Abe, K. T., Nishimura, A. L., Morvalina Da Silva, M. D., Monteiro, A., Jr., Lima, M. I., Kok, F., Zatz, M. <strong>A new locus for recessive distal spinal muscular atrophy at Xq13.1-q21.</strong> J. Med. Genet. 41: 224-229, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14985388/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14985388</a>] [<a href="https://doi.org/10.1136/jmg.2003.013201" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14985388">Takata et al. (2004)</a>, linkage analysis identified a disease locus in a 4.3-cM region between markers DXS8046 and DXS990 at chromosome Xq13.1-q21 (maximum 2-point lod score of 5.74 at marker DXS986). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14985388" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By linkage analysis of a family with X-linked distal motor neuropathy, <a href="#2" class="mim-tip-reference" title="Kennerson, M., Nicholson, G., Kowalski, B., Krajewski, K., El-Khechen, D., Feely, S., Chu, S., Shy, M., Garbern, J. <strong>X-linked distal hereditary motor neuropathy maps to the DSMAX locus on chromosome Xq13.1-q21.</strong> Neurology 72: 246-252, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19153371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19153371</a>] [<a href="https://doi.org/10.1212/01.wnl.0000339483.86094.a5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19153371">Kennerson et al. (2009)</a> refined the DSMAX locus to a 1.44-cM (14.2-Mb) interval on chromosome Xq13.1-q21 between DXS8046 and DXS8114. Sequence analysis excluded mutation in the GJB1 gene (<a href="/entry/304040">304040</a>) on Xq13, and high-resolution melt analysis excluded mutations in the coding region of 9 additional candidate genes. <a href="#2" class="mim-tip-reference" title="Kennerson, M., Nicholson, G., Kowalski, B., Krajewski, K., El-Khechen, D., Feely, S., Chu, S., Shy, M., Garbern, J. <strong>X-linked distal hereditary motor neuropathy maps to the DSMAX locus on chromosome Xq13.1-q21.</strong> Neurology 72: 246-252, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19153371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19153371</a>] [<a href="https://doi.org/10.1212/01.wnl.0000339483.86094.a5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19153371">Kennerson et al. (2009)</a> postulated that the disorder in this family was allelic to that reported by <a href="#3" class="mim-tip-reference" title="Takata, R. I., Speck Martins, C. E., Passosbueno, M. R., Abe, K. T., Nishimura, A. L., Morvalina Da Silva, M. D., Monteiro, A., Jr., Lima, M. I., Kok, F., Zatz, M. <strong>A new locus for recessive distal spinal muscular atrophy at Xq13.1-q21.</strong> J. Med. Genet. 41: 224-229, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14985388/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14985388</a>] [<a href="https://doi.org/10.1136/jmg.2003.013201" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14985388">Takata et al. (2004)</a> despite the earlier age of onset in the latter family. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19153371+14985388" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of 2 families previously reported by <a href="#3" class="mim-tip-reference" title="Takata, R. I., Speck Martins, C. E., Passosbueno, M. R., Abe, K. T., Nishimura, A. L., Morvalina Da Silva, M. D., Monteiro, A., Jr., Lima, M. I., Kok, F., Zatz, M. <strong>A new locus for recessive distal spinal muscular atrophy at Xq13.1-q21.</strong> J. Med. Genet. 41: 224-229, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14985388/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14985388</a>] [<a href="https://doi.org/10.1136/jmg.2003.013201" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14985388">Takata et al. (2004)</a> and <a href="#2" class="mim-tip-reference" title="Kennerson, M., Nicholson, G., Kowalski, B., Krajewski, K., El-Khechen, D., Feely, S., Chu, S., Shy, M., Garbern, J. <strong>X-linked distal hereditary motor neuropathy maps to the DSMAX locus on chromosome Xq13.1-q21.</strong> Neurology 72: 246-252, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19153371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19153371</a>] [<a href="https://doi.org/10.1212/01.wnl.0000339483.86094.a5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19153371">Kennerson et al. (2009)</a>, <a href="#1" class="mim-tip-reference" title="Kennerson, M. L., Nicholson, G. A., Kaler, S. G., Kowalski, B., Mercer, J. F. B., Tang, J., Llanos, R. M., Chu, S., Takata, R. I., Speck-Martins, C. E., Baets, J., Almeida-Souza, L., and 10 others. <strong>Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy.</strong> Am. J. Hum. Genet. 86: 343-352, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20170900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20170900</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20170900[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.01.027" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20170900">Kennerson et al. (2010)</a> identified 2 different mutations in the ATP7A gene: T994I (<a href="/entry/300011#0015">300011.0015</a>) and P1386S (<a href="/entry/300011#0016">300011.0016</a>), respectively. In vitro functional expression assays indicated that the mutations resulted in impaired copper transport into the secretory pathway for incorporation into nascent proproteins, perhaps due to reduced conformational flexibility. <a href="#1" class="mim-tip-reference" title="Kennerson, M. L., Nicholson, G. A., Kaler, S. G., Kowalski, B., Mercer, J. F. B., Tang, J., Llanos, R. M., Chu, S., Takata, R. I., Speck-Martins, C. E., Baets, J., Almeida-Souza, L., and 10 others. <strong>Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy.</strong> Am. J. Hum. Genet. 86: 343-352, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20170900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20170900</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20170900[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.01.027" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20170900">Kennerson et al. (2010)</a> suggested that the late onset of distal muscular atrophy implies that these mutations produced attenuated effects that required years to provoke pathologic consequences. Motor neurons may be particularly sensitive to perturbations in copper homeostasis or copper deficiency, which may impair normal axonal growth and synaptogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20170900+19153371+14985388" 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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Kennerson, M. L., Nicholson, G. A., Kaler, S. G., Kowalski, B., Mercer, J. F. B., Tang, J., Llanos, R. M., Chu, S., Takata, R. I., Speck-Martins, C. E., Baets, J., Almeida-Souza, L., and 10 others.
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Am. J. Hum. Genet. 86: 343-352, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20170900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20170900</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20170900[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=20170900" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>X-linked distal hereditary motor neuropathy maps to the DSMAX locus on chromosome Xq13.1-q21.</strong>
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Neurology 72: 246-252, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19153371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19153371</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19153371" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Takata, R. I., Speck Martins, C. E., Passosbueno, M. R., Abe, K. T., Nishimura, A. L., Morvalina Da Silva, M. D., Monteiro, A., Jr., Lima, M. I., Kok, F., Zatz, M.
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<strong>A new locus for recessive distal spinal muscular atrophy at Xq13.1-q21.</strong>
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J. Med. Genet. 41: 224-229, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14985388/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14985388</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14985388" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Cassandra L. Kniffin : 3/31/2004
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alopez : 10/17/2023
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ckniffin : 10/11/2023<br>carol : 09/01/2015<br>wwang : 4/28/2010<br>ckniffin : 4/19/2010<br>wwang : 3/24/2009<br>ckniffin : 3/12/2009<br>alopez : 6/26/2008<br>joanna : 4/21/2004<br>tkritzer : 4/21/2004<br>ckniffin : 3/31/2004<br>ckniffin : 3/31/2004
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<strong>#</strong> 300489
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NEURONOPATHY, DISTAL HEREDITARY MOTOR, X-LINKED; HMNX
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NEUROPATHY, DISTAL HEREDITARY MOTOR, X-LINKED<br />
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SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3; SMAX3<br />
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SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE<br />
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DSMAX
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<strong>SNOMEDCT:</strong> 766764008;
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<strong>ORPHA:</strong> 139557;
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<strong>DO:</strong> 0111196;
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<strong>Phenotype-Gene Relationships</strong>
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Xq21.1
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Neuronopathy, distal hereditary motor, X-linked
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300489
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X-linked recessive
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3
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ATP7A
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300011
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<p>A number sign (#) is used with this entry because X-linked distal hereditary motor neuronopathy (HMNX) is caused by mutation in the copper transport gene ATP7A (300011) on Xq21.</p><p>For a discussion of genetic heterogeneity of distal hereditary motor neuronopathy, see HMND1 (182960).</p>
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<p>Takata et al. (2004) reported a white Brazilian family in which 17 males were affected with a distal form of spinal muscular atrophy affecting both the upper and lower limbs. The disorder was transmitted in an X-linked recessive pattern of inheritance. In 6 of 9 patients who were examined, age at onset ranged from 1 to 10 years, and the first detected symptom was foot deformity (pes cavus or pes varus); gait instability was reported in 2 other individuals. Subsequently, distal lower limb weakness and atrophy were observed, and finally, the hands were affected. Despite the large clinical variability, the disease progression was very slow and independent gait was maintained even late in life. There was no cognitive, pyramidal, or sensory impairment. EMG showed chronic denervation, muscle biopsy showed a neurogenic pattern, and sural nerve biopsy was normal. </p><p>Kennerson et al. (2009) reported a 3-generation family with X-linked distal motor neuropathy. Age at onset ranged from 10 to 30 years and was characterized by distal motor weakness particularly of the lower limbs that resulted in gait abnormalities and atrophy of lower limb muscles. There was either little or no sensory involvement in affected individuals. Obligate female heterozygotes were unaffected. </p>
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<strong>Mapping</strong>
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<p>In the family reported by Takata et al. (2004), linkage analysis identified a disease locus in a 4.3-cM region between markers DXS8046 and DXS990 at chromosome Xq13.1-q21 (maximum 2-point lod score of 5.74 at marker DXS986). </p><p>By linkage analysis of a family with X-linked distal motor neuropathy, Kennerson et al. (2009) refined the DSMAX locus to a 1.44-cM (14.2-Mb) interval on chromosome Xq13.1-q21 between DXS8046 and DXS8114. Sequence analysis excluded mutation in the GJB1 gene (304040) on Xq13, and high-resolution melt analysis excluded mutations in the coding region of 9 additional candidate genes. Kennerson et al. (2009) postulated that the disorder in this family was allelic to that reported by Takata et al. (2004) despite the earlier age of onset in the latter family. </p>
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<strong>Molecular Genetics</strong>
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<p>In affected members of 2 families previously reported by Takata et al. (2004) and Kennerson et al. (2009), Kennerson et al. (2010) identified 2 different mutations in the ATP7A gene: T994I (300011.0015) and P1386S (300011.0016), respectively. In vitro functional expression assays indicated that the mutations resulted in impaired copper transport into the secretory pathway for incorporation into nascent proproteins, perhaps due to reduced conformational flexibility. Kennerson et al. (2010) suggested that the late onset of distal muscular atrophy implies that these mutations produced attenuated effects that required years to provoke pathologic consequences. Motor neurons may be particularly sensitive to perturbations in copper homeostasis or copper deficiency, which may impair normal axonal growth and synaptogenesis. </p>
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<strong>REFERENCES</strong>
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Kennerson, M. L., Nicholson, G. A., Kaler, S. G., Kowalski, B., Mercer, J. F. B., Tang, J., Llanos, R. M., Chu, S., Takata, R. I., Speck-Martins, C. E., Baets, J., Almeida-Souza, L., and 10 others.
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<strong>Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy.</strong>
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Am. J. Hum. Genet. 86: 343-352, 2010.
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[PubMed: 20170900]
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[Full Text: https://doi.org/10.1016/j.ajhg.2010.01.027]
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Kennerson, M., Nicholson, G., Kowalski, B., Krajewski, K., El-Khechen, D., Feely, S., Chu, S., Shy, M., Garbern, J.
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<strong>X-linked distal hereditary motor neuropathy maps to the DSMAX locus on chromosome Xq13.1-q21.</strong>
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Neurology 72: 246-252, 2009.
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[PubMed: 19153371]
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[Full Text: https://doi.org/10.1212/01.wnl.0000339483.86094.a5]
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Takata, R. I., Speck Martins, C. E., Passosbueno, M. R., Abe, K. T., Nishimura, A. L., Morvalina Da Silva, M. D., Monteiro, A., Jr., Lima, M. I., Kok, F., Zatz, M.
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<strong>A new locus for recessive distal spinal muscular atrophy at Xq13.1-q21.</strong>
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J. Med. Genet. 41: 224-229, 2004.
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[PubMed: 14985388]
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[Full Text: https://doi.org/10.1136/jmg.2003.013201]
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Cassandra L. Kniffin - updated : 3/12/2009
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Creation Date:
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Cassandra L. Kniffin : 3/31/2004
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alopez : 10/17/2023<br>ckniffin : 10/11/2023<br>carol : 09/01/2015<br>wwang : 4/28/2010<br>ckniffin : 4/19/2010<br>wwang : 3/24/2009<br>ckniffin : 3/12/2009<br>alopez : 6/26/2008<br>joanna : 4/21/2004<br>tkritzer : 4/21/2004<br>ckniffin : 3/31/2004<br>ckniffin : 3/31/2004
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