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<title>
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Entry
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- #300695 - SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT; SPM
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- OMIM
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<span class="h4">#300695</span>
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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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<a href="/clinicalSynopsis/300695"><strong>Clinical Synopsis</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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<li role="presentation" style="margin-left: 1em">
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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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<li role="presentation">
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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><a href="https://clinicaltrials.gov/search?cond=(SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT) OR (FHL1)" class="mim-tip-hint" title="Clinical Trials" 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=23241&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.diseaseinfosearch.org/x/6427" 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=300695[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=431272" 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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<div style="display: table-row">
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0060253" 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/300695" 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>
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<span>
|
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 431272<br />
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<strong>DO:</strong> 0060253<br />
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">ICD+</a>
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</div>
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<div>
|
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
|
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<span class="text-danger"><strong>#</strong></span>
|
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300695
|
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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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SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT; SPM
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</span>
|
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</h3>
|
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</div>
|
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="alternativeTitles" class="mim-anchor"></a>
|
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<div>
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
|
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</div>
|
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
SCAPULOPERONEAL MYOPATHY, FHL1-RELATED
|
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</span>
|
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</h4>
|
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</div>
|
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</div>
|
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<div>
|
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<br />
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</div>
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</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>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
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</tr>
|
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</thead>
|
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<tbody>
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/X/717?start=-3&limit=10&highlight=717">
|
|
Xq26.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Scapuloperoneal myopathy, X-linked dominant
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300695"> 300695 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked dominant">XLD</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">
|
|
FHL1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300163"> 300163 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
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</tbody>
|
|
</table>
|
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</div>
|
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</div>
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<div>
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|
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|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/300695" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<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')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
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|
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|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/300695" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/300695" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- X-linked dominant <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1847879&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1847879</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001423" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001423</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001423" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001423</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Arrhythmias may occur <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2678066&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2678066</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/698247007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">698247007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I49.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I49.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/427.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">427.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/427" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">427</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011675" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011675</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CHEST </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ribs Sternum Clavicles & Scapulae </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Scapular winging <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/17211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">17211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240953&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240953</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003691" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003691</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003691" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003691</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Joint contractures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7890003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7890003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M24.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M24.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/718.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">718.4</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/718.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">718.40</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009918&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009918</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034392" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034392</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MUSCLE, SOFT TISSUES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Muscle weakness, proximal, progressive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836156&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836156</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009073" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009073</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249939004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249939004</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003701" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003701</a>]</span><br /> -
|
|
Muscle wasting, progressive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2678062&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2678062</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/88092000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">88092000</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003202" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003202</a>]</span><br /> -
|
|
Upper limb weakness <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2678063&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2678063</a>]</span><br /> -
|
|
Lower limb weakness <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836296&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836296</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007340" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007340</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007340" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007340</a>]</span><br /> -
|
|
Foot drop <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/6077001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">6077001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/735601009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">735601009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M21.37" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M21.37</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2894499&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2894499</a>, <a href="https://bioportal.bioontology.org/search?q=C0085684&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085684</a>, <a href="https://bioportal.bioontology.org/search?q=C1866141&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866141</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009027" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009027</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009027" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009027</a>]</span><br /> -
|
|
Waddling gait <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271706000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271706000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0231712&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0231712</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002515" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002515</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002515" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002515</a>]</span><br /> -
|
|
Steppage gait <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/27253007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">27253007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0427149&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0427149</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003376" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003376</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003376" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003376</a>]</span><br /> -
|
|
Muscle biopsy shows myopathic changes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836137&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836137</a>]</span><br /> -
|
|
Hyaline inclusions <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2678064&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2678064</a>]</span><br /> -
|
|
Myofibrillar myopathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/699269005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">699269005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2678065&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2678065</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003715" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003715</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003715" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003715</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
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- 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 />
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<strong> LABORATORY ABNORMALITIES </strong>
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- Increased serum creatine kinase <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241005&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241005</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003236" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003236</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003236" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003236</a>]</span><br />
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- One large family has been reported (as of 2008)<br /> -
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Onset in early adulthood <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853562&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853562</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003581" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003581</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003581" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003581</a>]</span><br /> -
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Most patients become wheelchair-bound <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1846606&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1846606</a>]</span><br />
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<strong> MOLECULAR BASIS </strong>
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<span class="mim-font">
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- Caused by mutation in the four-and-a-half lim domains 1 gene (FHL1, <a href="/entry/300163#0001">300163.0001</a>)<br />
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that X-linked dominant scapuloperoneal myopathy is caused by mutation in the FHL1 gene (<a href="/entry/300163">300163</a>).</p>
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<strong>Clinical Features</strong>
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<p><a href="#3" class="mim-tip-reference" title="Wilhelmsen, K. C., Blake, D. M., Lynch, T., Mabutas, J., De Vera, M., Neystat, M., Bernstein, M., Hirano, M., Gilliam, T. C., Murphy, P. L., Sola, M. D., Bonilla, E., Schotland, D. L., Hays, A. P., Rowland, L. P. <strong>Chromosome 12-linked autosomal dominant scapuloperoneal muscular dystrophy.</strong> Ann. Neurol. 39: 507-520, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8619529/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8619529</a>] [<a href="https://doi.org/10.1002/ana.410390413" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8619529">Wilhelmsen et al. (1996)</a> examined 44 members of an Italian-American family segregating scapuloperoneal muscular dystrophy which affected 14 individuals. The diagnosis of scapuloperoneal syndrome was based on clinical features including foot drop as an 'invariable early sign,' proximal arm weakness always preceding hand weakness, and scapular winging on examination of all patients. Serum creatine kinase (CK) levels were elevated in all patients. Quantitative electromyography as well as 2 autopsies demonstrated a myopathy with normal motor neurons and peripheral nerves. In the 2 autopsies there were hyaline desmin (<a href="/entry/125660">125660</a>)-containing cytoplasmic inclusions in combination with focal myopathic changes, possibly a specific marker of this disorder. There was no documented male-to-male transmission although 1 patient may have inherited the disease from his father who died while still at risk. <a href="#3" class="mim-tip-reference" title="Wilhelmsen, K. C., Blake, D. M., Lynch, T., Mabutas, J., De Vera, M., Neystat, M., Bernstein, M., Hirano, M., Gilliam, T. C., Murphy, P. L., Sola, M. D., Bonilla, E., Schotland, D. L., Hays, A. P., Rowland, L. P. <strong>Chromosome 12-linked autosomal dominant scapuloperoneal muscular dystrophy.</strong> Ann. Neurol. 39: 507-520, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8619529/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8619529</a>] [<a href="https://doi.org/10.1002/ana.410390413" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8619529">Wilhelmsen et al. (1996)</a> stated that focal atrophy in the muscle biopsy as well as inconclusive electromyography in other individuals could give rise to confusion of this disorder with neurogenic scapuloperoneal amyotrophy (see <a href="/entry/181400">181400</a> and <a href="/entry/181405">181405</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8619529" 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="Quinzii, C. M., Vu, T. H., Min, K. C., Tanji, K., Barral, S., Grewal, R. P., Kattah, A., Camano, P., Otaegui, D., Kunimatsu, T., Blake, D. M., Wilhelmsen, K. C., Rowland, L. P., Hays, A. P., Bonilla, E., Hirano, M. <strong>X-linked dominant scapuloperoneal myopathy is due to mutation in the gene encoding four-and-a-half-LIM protein 1.</strong> Am. J. Hum. Genet. 82: 208-213, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18179901/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18179901</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18179901[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.2007.09.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18179901">Quinzii et al. (2008)</a> reevaluated the family originally reported by <a href="#3" class="mim-tip-reference" title="Wilhelmsen, K. C., Blake, D. M., Lynch, T., Mabutas, J., De Vera, M., Neystat, M., Bernstein, M., Hirano, M., Gilliam, T. C., Murphy, P. L., Sola, M. D., Bonilla, E., Schotland, D. L., Hays, A. P., Rowland, L. P. <strong>Chromosome 12-linked autosomal dominant scapuloperoneal muscular dystrophy.</strong> Ann. Neurol. 39: 507-520, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8619529/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8619529</a>] [<a href="https://doi.org/10.1002/ana.410390413" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8619529">Wilhelmsen et al. (1996)</a>, including 14 affected individuals, 8 women and 6 men, in 5 generations. Two of these affected individuals had been considered unaffected in the previous report. Affected men had earlier age at onset than affected women, and were more severely affected. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8619529+18179901" 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="Schessl, J., Taratuto, A. L., Sewry, C., Battini, R., Chin, S. S., Maiti, B., Dubrovsky, A. L., Erro, M. G., Espada, G., Robertella, M., Saccoliti, M., Olmos, P., and 11 others. <strong>Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1.</strong> Brain 132: 452-464, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19181672/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19181672</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19181672[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/brain/awn325" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19181672">Schessl et al. (2009)</a> stated that muscle biopsies from patients from the family reported by <a href="#1" class="mim-tip-reference" title="Quinzii, C. M., Vu, T. H., Min, K. C., Tanji, K., Barral, S., Grewal, R. P., Kattah, A., Camano, P., Otaegui, D., Kunimatsu, T., Blake, D. M., Wilhelmsen, K. C., Rowland, L. P., Hays, A. P., Bonilla, E., Hirano, M. <strong>X-linked dominant scapuloperoneal myopathy is due to mutation in the gene encoding four-and-a-half-LIM protein 1.</strong> Am. J. Hum. Genet. 82: 208-213, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18179901/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18179901</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18179901[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.2007.09.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18179901">Quinzii et al. (2008)</a> had been reexamined and found to contain reducing bodies, suggesting that the phenotype in this family may represent a mild form of X-linked reducing body myopathy (<a href="/entry/300718">300718</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19181672+18179901" 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="#3" class="mim-tip-reference" title="Wilhelmsen, K. C., Blake, D. M., Lynch, T., Mabutas, J., De Vera, M., Neystat, M., Bernstein, M., Hirano, M., Gilliam, T. C., Murphy, P. L., Sola, M. D., Bonilla, E., Schotland, D. L., Hays, A. P., Rowland, L. P. <strong>Chromosome 12-linked autosomal dominant scapuloperoneal muscular dystrophy.</strong> Ann. Neurol. 39: 507-520, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8619529/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8619529</a>] [<a href="https://doi.org/10.1002/ana.410390413" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8619529">Wilhelmsen et al. (1996)</a> used linkage analysis to map scapuloperoneal myopathy in a large Italian-American family to chromosome 12q. Ten individuals classified as 'not affected' shared the chromosome 12q haplotype with affected individuals, suggesting incomplete penetrance, double recombination in these 'not affected' individuals, or false-positive linkage. Therefore, <a href="#1" class="mim-tip-reference" title="Quinzii, C. M., Vu, T. H., Min, K. C., Tanji, K., Barral, S., Grewal, R. P., Kattah, A., Camano, P., Otaegui, D., Kunimatsu, T., Blake, D. M., Wilhelmsen, K. C., Rowland, L. P., Hays, A. P., Bonilla, E., Hirano, M. <strong>X-linked dominant scapuloperoneal myopathy is due to mutation in the gene encoding four-and-a-half-LIM protein 1.</strong> Am. J. Hum. Genet. 82: 208-213, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18179901/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18179901</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18179901[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.2007.09.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18179901">Quinzii et al. (2008)</a> performed a new genomewide scan with microsatellite markers in leukocyte DNA from 27 family members (14 affected and 13 unaffected), which established linkage to chromosome Xq26. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8619529+18179901" 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 all affected members of the large family with scapuloperoneal myopathy originally reported by <a href="#3" class="mim-tip-reference" title="Wilhelmsen, K. C., Blake, D. M., Lynch, T., Mabutas, J., De Vera, M., Neystat, M., Bernstein, M., Hirano, M., Gilliam, T. C., Murphy, P. L., Sola, M. D., Bonilla, E., Schotland, D. L., Hays, A. P., Rowland, L. P. <strong>Chromosome 12-linked autosomal dominant scapuloperoneal muscular dystrophy.</strong> Ann. Neurol. 39: 507-520, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8619529/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8619529</a>] [<a href="https://doi.org/10.1002/ana.410390413" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8619529">Wilhelmsen et al. (1996)</a>, <a href="#1" class="mim-tip-reference" title="Quinzii, C. M., Vu, T. H., Min, K. C., Tanji, K., Barral, S., Grewal, R. P., Kattah, A., Camano, P., Otaegui, D., Kunimatsu, T., Blake, D. M., Wilhelmsen, K. C., Rowland, L. P., Hays, A. P., Bonilla, E., Hirano, M. <strong>X-linked dominant scapuloperoneal myopathy is due to mutation in the gene encoding four-and-a-half-LIM protein 1.</strong> Am. J. Hum. Genet. 82: 208-213, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18179901/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18179901</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18179901[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.2007.09.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18179901">Quinzii et al. (2008)</a> detected a missense change (W122S; <a href="/entry/300163#0001">300163.0001</a>) in the FHL1 gene, encoding 4-and-a-half-LIM domains protein-1. The mutation alters a conserved residue in the second LIM domain of the protein. Affected males were hemizygous, and affected females heterozygous, for the mutation. This was the first report of X-linked dominant scapuloperoneal myopathy and the first human mutation in FHL1. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8619529+18179901" 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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Quinzii, C. M., Vu, T. H., Min, K. C., Tanji, K., Barral, S., Grewal, R. P., Kattah, A., Camano, P., Otaegui, D., Kunimatsu, T., Blake, D. M., Wilhelmsen, K. C., Rowland, L. P., Hays, A. P., Bonilla, E., Hirano, M.
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<strong>X-linked dominant scapuloperoneal myopathy is due to mutation in the gene encoding four-and-a-half-LIM protein 1.</strong>
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Am. J. Hum. Genet. 82: 208-213, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18179901/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18179901</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18179901[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=18179901" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2007.09.013" target="_blank">Full Text</a>]
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Schessl, J., Taratuto, A. L., Sewry, C., Battini, R., Chin, S. S., Maiti, B., Dubrovsky, A. L., Erro, M. G., Espada, G., Robertella, M., Saccoliti, M., Olmos, P., and 11 others.
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<strong>Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1.</strong>
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Brain 132: 452-464, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19181672/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19181672</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19181672[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=19181672" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/brain/awn325" target="_blank">Full Text</a>]
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<a id="Wilhelmsen1996" class="mim-anchor"></a>
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Wilhelmsen, K. C., Blake, D. M., Lynch, T., Mabutas, J., De Vera, M., Neystat, M., Bernstein, M., Hirano, M., Gilliam, T. C., Murphy, P. L., Sola, M. D., Bonilla, E., Schotland, D. L., Hays, A. P., Rowland, L. P.
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<strong>Chromosome 12-linked autosomal dominant scapuloperoneal muscular dystrophy.</strong>
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Ann. Neurol. 39: 507-520, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8619529/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8619529</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8619529" 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.410390413" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 12/29/2009
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Victor A. McKusick : 2/21/2008
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alopez : 03/20/2023
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carol : 02/02/2010<br>wwang : 1/15/2010<br>ckniffin : 12/29/2009<br>ckniffin : 10/6/2009<br>ckniffin : 6/16/2008<br>alopez : 2/21/2008<br>alopez : 2/21/2008
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<strong>#</strong> 300695
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SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT; SPM
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SCAPULOPERONEAL MYOPATHY, FHL1-RELATED
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<strong>ORPHA:</strong> 431272;
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<strong>DO:</strong> 0060253;
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Phenotype
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Xq26.3
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Scapuloperoneal myopathy, X-linked dominant
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300695
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X-linked dominant
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3
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FHL1
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300163
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<p>A number sign (#) is used with this entry because of evidence that X-linked dominant scapuloperoneal myopathy is caused by mutation in the FHL1 gene (300163).</p>
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<p>Wilhelmsen et al. (1996) examined 44 members of an Italian-American family segregating scapuloperoneal muscular dystrophy which affected 14 individuals. The diagnosis of scapuloperoneal syndrome was based on clinical features including foot drop as an 'invariable early sign,' proximal arm weakness always preceding hand weakness, and scapular winging on examination of all patients. Serum creatine kinase (CK) levels were elevated in all patients. Quantitative electromyography as well as 2 autopsies demonstrated a myopathy with normal motor neurons and peripheral nerves. In the 2 autopsies there were hyaline desmin (125660)-containing cytoplasmic inclusions in combination with focal myopathic changes, possibly a specific marker of this disorder. There was no documented male-to-male transmission although 1 patient may have inherited the disease from his father who died while still at risk. Wilhelmsen et al. (1996) stated that focal atrophy in the muscle biopsy as well as inconclusive electromyography in other individuals could give rise to confusion of this disorder with neurogenic scapuloperoneal amyotrophy (see 181400 and 181405). </p><p>Quinzii et al. (2008) reevaluated the family originally reported by Wilhelmsen et al. (1996), including 14 affected individuals, 8 women and 6 men, in 5 generations. Two of these affected individuals had been considered unaffected in the previous report. Affected men had earlier age at onset than affected women, and were more severely affected. </p><p>Schessl et al. (2009) stated that muscle biopsies from patients from the family reported by Quinzii et al. (2008) had been reexamined and found to contain reducing bodies, suggesting that the phenotype in this family may represent a mild form of X-linked reducing body myopathy (300718). </p>
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<strong>Mapping</strong>
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<p>Wilhelmsen et al. (1996) used linkage analysis to map scapuloperoneal myopathy in a large Italian-American family to chromosome 12q. Ten individuals classified as 'not affected' shared the chromosome 12q haplotype with affected individuals, suggesting incomplete penetrance, double recombination in these 'not affected' individuals, or false-positive linkage. Therefore, Quinzii et al. (2008) performed a new genomewide scan with microsatellite markers in leukocyte DNA from 27 family members (14 affected and 13 unaffected), which established linkage to chromosome Xq26. </p>
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<strong>Molecular Genetics</strong>
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<p>In all affected members of the large family with scapuloperoneal myopathy originally reported by Wilhelmsen et al. (1996), Quinzii et al. (2008) detected a missense change (W122S; 300163.0001) in the FHL1 gene, encoding 4-and-a-half-LIM domains protein-1. The mutation alters a conserved residue in the second LIM domain of the protein. Affected males were hemizygous, and affected females heterozygous, for the mutation. This was the first report of X-linked dominant scapuloperoneal myopathy and the first human mutation in FHL1. </p>
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<strong>REFERENCES</strong>
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Quinzii, C. M., Vu, T. H., Min, K. C., Tanji, K., Barral, S., Grewal, R. P., Kattah, A., Camano, P., Otaegui, D., Kunimatsu, T., Blake, D. M., Wilhelmsen, K. C., Rowland, L. P., Hays, A. P., Bonilla, E., Hirano, M.
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<strong>X-linked dominant scapuloperoneal myopathy is due to mutation in the gene encoding four-and-a-half-LIM protein 1.</strong>
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Am. J. Hum. Genet. 82: 208-213, 2008.
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[PubMed: 18179901]
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[Full Text: https://doi.org/10.1016/j.ajhg.2007.09.013]
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Schessl, J., Taratuto, A. L., Sewry, C., Battini, R., Chin, S. S., Maiti, B., Dubrovsky, A. L., Erro, M. G., Espada, G., Robertella, M., Saccoliti, M., Olmos, P., and 11 others.
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<strong>Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1.</strong>
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Brain 132: 452-464, 2009.
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[PubMed: 19181672]
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[Full Text: https://doi.org/10.1093/brain/awn325]
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Wilhelmsen, K. C., Blake, D. M., Lynch, T., Mabutas, J., De Vera, M., Neystat, M., Bernstein, M., Hirano, M., Gilliam, T. C., Murphy, P. L., Sola, M. D., Bonilla, E., Schotland, D. L., Hays, A. P., Rowland, L. P.
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<strong>Chromosome 12-linked autosomal dominant scapuloperoneal muscular dystrophy.</strong>
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Ann. Neurol. 39: 507-520, 1996.
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[PubMed: 8619529]
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[Full Text: https://doi.org/10.1002/ana.410390413]
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Cassandra L. Kniffin - updated : 12/29/2009
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Victor A. McKusick : 2/21/2008
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