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<title>
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Entry
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- #161800 - CONGENITAL MYOPATHY 2A, TYPICAL, AUTOSOMAL DOMINANT; CMYO2A
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- OMIM
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/phenotypicSeries/PS161800,PS117000"> <strong>Phenotypic Series</strong> </a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#pathogenesis">Pathogenesis</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=17906&Typ=Pat" title="Severe congenital nemaline myopathy" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Severe congenital nemaline… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=17907&Typ=Pat" title="Intermediate nemaline myopathy" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Intermediate nemaline myop… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=17908&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Typical nemaline myopathy </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=17909&Typ=Pat" title="Childhood-onset nemaline myopathy" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Childhood-onset nemaline m… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=13921&Typ=Pat" title="Congenital myopathy with excess of thin filaments" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Congenital myopathy with e… </a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/5125" 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="#mimMedlinePlusGeneticsFold" id="mimMedlinePlusGeneticsToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Consumer-friendly information about the effects of genetic variation on human health."><span id="mimMedlinePlusGeneticsToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>MedlinePlus Genetics</div>
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</div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=161800[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 style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=171430" title="Severe congenital nemaline myopathy" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Severe congenital nemaline…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=171433" title="Intermediate nemaline myopathy" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Intermediate nemaline myop…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=171436" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Typical nemaline myopathy</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=171439" title="Childhood-onset nemaline myopathy" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Childhood-onset nemaline m…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98904" title="Congenital myopathy with excess of thin filaments" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Congenital myopathy with e…</a></div>
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<div><a href="http://www.informatics.jax.org/disease/161800" 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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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
|
|
<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</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="mimCellLinesLinksFold" 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://catalog.coriell.org/Search?q=OmimNum:161800" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
|
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
|
|
<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> 702349003<br />
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<strong>ORPHA:</strong> 171430, 171433, 171436, 171439, 98904<br />
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<strong>DO:</strong> 0110927<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
|
|
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
|
|
<span class="text-danger"><strong>#</strong></span>
|
|
161800
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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>
|
|
<a id="preferredTitle" class="mim-anchor"></a>
|
|
<h3>
|
|
<span class="mim-font">
|
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|
|
CONGENITAL MYOPATHY 2A, TYPICAL, AUTOSOMAL DOMINANT; CMYO2A
|
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</span>
|
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</h3>
|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
|
|
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|
|
<div>
|
|
<a id="alternativeTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
NEMALINE MYOPATHY 3; NEM3<br />
|
|
MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS<br />
|
|
NEMALINE MYOPATHY 3, WITH INTRANUCLEAR RODS<br />
|
|
MYOPATHY, ACTIN, CONGENITAL, WITH CORES
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
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</div>
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|
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<div>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/1/1785?start=-3&limit=10&highlight=1785">
|
|
1q42.13
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Congenital myopathy 2A, typical, autosomal dominant
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/161800"> 161800 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
ACTA1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/102610"> 102610 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
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|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/161800" 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>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS161800,PS117000" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<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/161800" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/161800" 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">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Other </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Slender build <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850573&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850573</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001533" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001533</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001533" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001533</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Facial muscle weakness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95666008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95666008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R29.810" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R29.810</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.83" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.83</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/781.94" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">781.94</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0427055&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0427055</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007209" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007209</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0030319" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030319</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030319" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030319</a>]</span><br /> -
|
|
Myopathic facies <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26432009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26432009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0332615&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0332615</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002058" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002058</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002058" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002058</a>]</span><br /> -
|
|
Elongated face <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845270&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845270</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=729bf273c6a346c2f07ab0965824ffb2" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Face,Long-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=729bf273c6a346c2f07ab0965824ffb2" 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 />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Mouth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- High-arched palate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/27272007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">27272007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q38.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q38.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240635&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240635</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span><br />
|
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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|
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Dilated cardiomyopathy (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399020009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399020009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/195021004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">195021004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I42.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I42.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0007193&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007193</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001644" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001644</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001644" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001644</a>]</span><br />
|
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</span>
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</div>
|
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</div>
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</div>
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</div>
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> RESPIRATORY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Respiratory insufficiency <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/409622000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">409622000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/409623005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">409623005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/J96.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">J96.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1145670&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1145670</a>, <a href="https://bioportal.bioontology.org/search?q=C0035229&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035229</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002878" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002878</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0002093" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002093</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002093" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002093</a>]</span><br /> -
|
|
Nocturnal hypoventilation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843643&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843643</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002877" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002877</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002877" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002877</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
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|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Gastrointestinal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Poor feeding <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/299698007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">299698007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/78164000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">78164000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R63.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R63.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0576456&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0576456</a>, <a href="https://bioportal.bioontology.org/search?q=C0232466&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0232466</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011968" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011968</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011968" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011968</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>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spine </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Scoliosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298382003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298382003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20944008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20944008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111266001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111266001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0559260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0559260</a>, <a href="https://bioportal.bioontology.org/search?q=C0036439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036439</a>, <a href="https://bioportal.bioontology.org/search?q=C0700208&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700208</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</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">
|
|
|
|
- Congenital myopathy <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G71.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G71.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0270960&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0270960</a>]</span><br /> -
|
|
Hypotonia, neonatal <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205294008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205294008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2267233&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2267233</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001319" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001319</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001319" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001319</a>]</span><br /> -
|
|
Muscle weakness, generalized <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M62.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M62.81</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/728.87" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">728.87</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0746674&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0746674</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003324" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003324</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003324" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003324</a>]</span><br /> -
|
|
Proximal limb muscle weakness <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">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221629&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221629</a> 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> <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 /> -
|
|
Reduced muscle bulk <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2750540&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2750540</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><br /> -
|
|
Frequent falls <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0850703&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0850703</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002359" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002359</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002359" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002359</a>]</span><br /> -
|
|
Variable findings on muscle biopsy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5829403&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5829403</a>]</span><br /> -
|
|
Nemaline bodies (rods) seen on muscle biopsy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5829404&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5829404</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003798" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003798</a>]</span><br /> -
|
|
Nemaline bodies are usually subsarcolemmal or sarcoplasmic <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850583&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850583</a>]</span><br /> -
|
|
Nemaline bodies are rarely intranuclear <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850584&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850584</a>]</span><br /> -
|
|
Zebra bodies <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/51529008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">51529008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0333776&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0333776</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0031361" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0031361</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0031361" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0031361</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Delayed motor development <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854301&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854301</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001270</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001270</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Normal or mildly increased serum creatine kinase <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864981&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864981</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Onset usually at birth or in infancy<br /> -
|
|
Childhood onset may occur <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837352&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837352</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011463" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011463</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011463" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011463</a>]</span><br /> -
|
|
Slowly progressive or nonprogressive<br /> -
|
|
Highly variable severity, even within families<br /> -
|
|
De novo mutation (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2985439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2985439</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<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 alpha-actin-1 gene (ACTA1, <a href="/entry/102610#0002">102610.0002</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Nemaline myopathy
|
|
- <a href="/phenotypicSeries/PS161800">PS161800</a>
|
|
- 13 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1184?start=-3&limit=10&highlight=1184"> 1q21.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609284"> Congenital myopathy 4B, autosomal recessive </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609284"> 609284 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/191030"> TPM3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/191030"> 191030 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1785?start=-3&limit=10&highlight=1785"> 1q42.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/161800"> Congenital myopathy 2A, typical, autosomal dominant </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/161800"> 161800 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/102610"> ACTA1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/102610"> 102610 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/688?start=-3&limit=10&highlight=688"> 2q23.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/256030"> Nemaline myopathy 2, autosomal recessive </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/256030"> 256030 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/161650"> NEB </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/161650"> 161650 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/758?start=-3&limit=10&highlight=758"> 2q31.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615731"> Nemaline myopathy 9 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615731"> 615731 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607701"> KLHL41 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607701"> 607701 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/208?start=-3&limit=10&highlight=208"> 3p22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615348"> Nemaline myopathy 8, autosomal recessive </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615348"> 615348 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615340"> KLHL40 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615340"> 615340 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/452?start=-3&limit=10&highlight=452"> 3p14.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616165"> Nemaline myopathy 10 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616165"> 616165 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616112"> LMOD3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616112"> 616112 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/172?start=-3&limit=10&highlight=172"> 9p13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609285"> Congenital myopathy 23 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609285"> 609285 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/190990"> TPM2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/190990"> 190990 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/239?start=-3&limit=10&highlight=239"> 10q21.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617336"> Congenital myopathy 24 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617336"> 617336 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608517"> MYPN </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608517"> 608517 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/164?start=-3&limit=10&highlight=164"> 14q13.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610687"> Nemaline myopathy 7, autosomal recessive </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610687"> 610687 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601443"> CFL2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601443"> 601443 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/15/292?start=-3&limit=10&highlight=292"> 15q22.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609273"> Nemaline myopathy 6, autosomal dominant </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609273"> 609273 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613727"> KBTBD13 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613727"> 613727 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/1155?start=-3&limit=10&highlight=1155"> 19q13.42 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620386"> Nemaline myopathy 5B, autosomal recessive, childhood-onset </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620386"> 620386 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/191041"> TNNT1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/191041"> 191041 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/1155?start=-3&limit=10&highlight=1155"> 19q13.42 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605355"> Nemaline myopathy 5A, autosomal recessive, severe infantile </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605355"> 605355 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/191041"> TNNT1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/191041"> 191041 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/1155?start=-3&limit=10&highlight=1155"> 19q13.42 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620389"> Nemaline myopathy 5C, autosomal dominant </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620389"> 620389 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/191041"> TNNT1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/191041"> 191041 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Myopathy, congenital (see also nemaline myopathy (<a href="/phenotypicSeries/PS161800">PS161800</a>), myofibrillar myopathy (<a href="/phenotypicSeries/PS601419">PS601419</a>), and centronuclear myopathy (<a href="/phenotypicSeries/PS160150">PS160150</a>)
|
|
- <a href="/phenotypicSeries/PS117000">PS117000</a>
|
|
- 33 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/217?start=-3&limit=10&highlight=217"> 1p36.13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618578"> Congenital myopathy 19 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618578"> 618578 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/167410"> PAX7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/167410"> 167410 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/303?start=-3&limit=10&highlight=303"> 1p36.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602771"> Congenital myopathy 3 with rigid spine </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602771"> 602771 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606210"> SELENON </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606210"> 606210 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/741?start=-3&limit=10&highlight=741"> 1p31.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620326"> Congenital myopathy 21 with early respiratory failure </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620326"> 620326 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611327"> DNAJB4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611327"> 611327 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1184?start=-3&limit=10&highlight=1184"> 1q21.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/255310"> Congenital myopathy 4A, autosomal dominant </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/255310"> 255310 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/191030"> TPM3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/191030"> 191030 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1184?start=-3&limit=10&highlight=1184"> 1q21.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609284"> Congenital myopathy 4B, autosomal recessive </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609284"> 609284 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/191030"> TPM3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/191030"> 191030 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1558?start=-3&limit=10&highlight=1558"> 1q32.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620246"> Congenital myopathy 18 due to dihydropyridine receptor defect </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620246"> 620246 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/114208"> CACNA1S </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/114208"> 114208 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1785?start=-3&limit=10&highlight=1785"> 1q42.13 </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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<a href="/entry/620278"> Congenital myopathy 2C, severe infantile, autosomal dominant </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/620278"> 620278 </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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|
<a href="/entry/102610"> ACTA1 </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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<a href="/entry/102610"> 102610 </a>
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</span>
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</td>
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</tr>
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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/1/1785?start=-3&limit=10&highlight=1785"> 1q42.13 </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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<a href="/entry/620265"> Congenital myopathy 2B, severe infantile, autosomal recessive </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
|
|
<td>
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|
<span class="mim-font">
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|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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|
<a href="/entry/620265"> 620265 </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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|
<a href="/entry/102610"> ACTA1 </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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<a href="/entry/102610"> 102610 </a>
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</span>
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</td>
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</tr>
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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/1/1785?start=-3&limit=10&highlight=1785"> 1q42.13 </a>
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</span>
|
|
</td>
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|
<td>
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|
<span class="mim-font">
|
|
<a href="/entry/161800"> Congenital myopathy 2A, typical, autosomal dominant </a>
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|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
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|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/161800"> 161800 </a>
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</span>
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</td>
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|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/102610"> ACTA1 </a>
|
|
</span>
|
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</td>
|
|
<td>
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|
<span class="mim-font">
|
|
<a href="/entry/102610"> 102610 </a>
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</span>
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</td>
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</tr>
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<tr>
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|
<td>
|
|
<span class="mim-font">
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|
<a href="/geneMap/1/1828?start=-3&limit=10&highlight=1828"> 1q43 </a>
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|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618654"> Congenital myopathy 8 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618654"> 618654 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/102573"> ACTN2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/102573"> 102573 </a>
|
|
</span>
|
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</td>
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</tr>
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|
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|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
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|
|
<a href="/geneMap/2/823?start=-3&limit=10&highlight=823"> 2q31.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611705"> Congenital myopathy 5 with cardiomyopathy </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611705"> 611705 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/188840"> TTN </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/188840"> 188840 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/973?start=-3&limit=10&highlight=973"> 2q34 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618414"> Congenital myopathy 14 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618414"> 618414 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/160780"> MYL1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/160780"> 160780 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/887?start=-3&limit=10&highlight=887"> 3q26.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618823"> Congenital myopathy 9B, proximal, with minicore lesions </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618823"> 618823 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600819"> FXR1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600819"> 600819 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/887?start=-3&limit=10&highlight=887"> 3q26.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618822"> ?Congenital myopathy 9A with respiratory insufficiency and bone fractures </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618822"> 618822 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600819"> FXR1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600819"> 600819 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/410?start=-3&limit=10&highlight=410"> 5q23.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614399"> Congenital myopathy 10A, severe variant </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614399"> 614399 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612453"> MEGF10 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612453"> 612453 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/410?start=-3&limit=10&highlight=410"> 5q23.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620249"> Congenital myopathy 10B, mild variant </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620249"> 620249 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612453"> MEGF10 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612453"> 612453 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/350?start=-3&limit=10&highlight=350"> 8q21.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620964"> Congenital myopathy 25 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620964"> 620964 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605266"> JPH1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605266"> 605266 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/172?start=-3&limit=10&highlight=172"> 9p13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609285"> Congenital myopathy 23 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609285"> 609285 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/190990"> TPM2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/190990"> 190990 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/84?start=-3&limit=10&highlight=84"> 10p12.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619967"> Congenital myopathy 11 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619967"> 619967 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610467"> HACD1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610467"> 610467 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/239?start=-3&limit=10&highlight=239"> 10q21.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617336"> Congenital myopathy 24 </a>
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</span>
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|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617336"> 617336 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608517"> MYPN </a>
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608517"> 608517 </a>
|
|
</span>
|
|
</td>
|
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</tr>
|
|
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|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/212?start=-3&limit=10&highlight=212"> 11p15.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618975"> Congenital myopathy 17 </a>
|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618975"> 618975 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/159970"> MYOD1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/159970"> 159970 </a>
|
|
</span>
|
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</td>
|
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</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/292?start=-3&limit=10&highlight=292"> 12q12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612540"> Congenital myopathy 12 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612540"> 612540 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600016"> CNTN1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600016"> 600016 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/536?start=-3&limit=10&highlight=536"> 12q13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/255995"> Congenital myopathy 13 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/255995"> 255995 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615521"> STAC3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615521"> 615521 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/728?start=-3&limit=10&highlight=728"> 12q23.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618524"> Congenital myopathy 16 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618524"> 618524 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/160794"> MYBPC1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/160794"> 160794 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/92?start=-3&limit=10&highlight=92"> 14q11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/255160"> Congenital myopathy 7B, myosin storage, autosomal recessive </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/255160"> 255160 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/160760"> MYH7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/160760"> 160760 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/92?start=-3&limit=10&highlight=92"> 14q11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608358"> Congenital myopathy 7A, myosin storage, autosomal dominant </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608358"> 608358 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/160760"> MYH7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/160760"> 160760 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/15/63?start=-3&limit=10&highlight=63"> 15q13.3-q14 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620310"> Congenital myopathy 20 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620310"> 620310 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/180903"> RYR3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/180903"> 180903 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/226?start=-3&limit=10&highlight=226"> 17p13.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605637"> Congenital myopathy 6 with ophthalmoplegia </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605637"> 605637 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/160740"> MYH2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/160740"> 160740 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/852?start=-3&limit=10&highlight=852"> 17q23.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620369"> Congenital myopathy 22B, severe fetal </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620369"> 620369 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603967"> SCN4A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603967"> 603967 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/852?start=-3&limit=10&highlight=852"> 17q23.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620351"> Congenital myopathy 22A, classic </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620351"> 620351 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603967"> SCN4A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603967"> 603967 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/649?start=-3&limit=10&highlight=649"> 19q13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/255320"> Congenital myopathy 1B, autosomal recessive </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/255320"> 255320 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/180901"> RYR1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/180901"> 180901 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/649?start=-3&limit=10&highlight=649"> 19q13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/117000"> Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/117000"> 117000 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/180901"> RYR1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/180901"> 180901 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/20/342?start=-3&limit=10&highlight=342"> 20q13.12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620161"> Congenital myopathy 15 </a>
|
|
</span>
|
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<p>A number sign (#) is used with this entry because of evidence that autosomal dominant typical congenital myopathy-2A (CMYO2A) is caused by heterozygous mutation in the ACTA1 gene (<a href="/entry/102610">102610</a>) on chromosome 1q42.</p><p>Heterozygous mutation in the ACTA1 gene can also cause severe infantile congenital myopathy-2C (CMYO2C; <a href="/entry/620278">620278</a>). Biallelic mutation in the ACTA1 gene causes autosomal recessive autosomal recessive congenital myopathy-2B (CMYO2B; <a href="/entry/620265">620265</a>).</p>
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<p>Congenital myopathy-2A (CMYO2A) is an autosomal dominant disorder of the skeletal muscle characterized by infantile- or childhood-onset myopathy with delayed motor milestones and nonprogressive muscle weakness. Of the patients with congenital myopathy caused by mutation in the ACTA1 gene, about 90% carry heterozygous mutations that are usually de novo and cause the severe infantile phenotype (CMYO2C; <a href="/entry/620278">620278</a>). Some patients with de novo mutations have a more typical and milder disease course with delayed motor development and proximal muscle weakness, but are able to achieve independent ambulation. Less frequently, autosomal dominant transmission of the disorder within a family may occur when the ACTA1 mutation produces a phenotype compatible with adult life. Of note, intrafamilial variability has also been reported: a severely affected proband may be identified and then mildly affected or even asymptomatic relatives are found to carry the same mutation. The severity of the disease most likely depends on the detrimental effect of the mutation, although there are probably additional modifying factors (<a href="#23" class="mim-tip-reference" title="Ryan, M. M., Schnell, C., Strickland, C. D., Shield, L. K., Morgan, G., Iannaccone, S. T., Laing, N. G., Beggs, A. H., North, K. N. <strong>Nemaline myopathy: a clinical study of 143 cases.</strong> Ann. Neurol. 50: 312-320, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11558787/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11558787</a>] [<a href="https://doi.org/10.1002/ana.1080" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11558787">Ryan et al., 2001</a>; <a href="#14" class="mim-tip-reference" title="Laing, N. G., Dye, D. E., Wallgren-Pettersson, C., Richard, G., Monnier, N., Lillis, S., Winder, T. L., Lochmuller, H., Graziano, C., Mitrani-Rosenbaum, S., Twomey, D., Sparrow, J. C., Beggs, A. H., Nowak, K. J. <strong>Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).</strong> Hum. Mutat. 30: 1267-1277, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19562689/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19562689</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19562689[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/10.1002/humu.21059" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19562689">Laing et al., 2009</a>; <a href="#24" class="mim-tip-reference" title="Sanoudou, D., Beggs, A. H. <strong>Clinical and genetic heterogeneity in nemaline myopathy--a disease of skeletal muscle thin filaments.</strong> Trends Molec. Med. 7: 362-368, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11516997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11516997</a>] [<a href="https://doi.org/10.1016/s1471-4914(01)02089-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11516997">Sanoudou and Beggs, 2001</a>; <a href="#2" class="mim-tip-reference" title="Agrawal, P. B., Strickland, C. D., Midgett, C., Morales, A., Newburger, D. E., Poulos, M. A., Tomczak, K. K., Ryan, M. M., Iannaccone, S. T., Crawford, T. O., Laing, N. G., Beggs, A. H. <strong>Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations.</strong> Ann. Neurol. 56: 86-96, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15236405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15236405</a>] [<a href="https://doi.org/10.1002/ana.20157" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15236405">Agrawal et al., 2004</a>; <a href="#18" class="mim-tip-reference" title="Nowak, K. J., Ravenscroft, G., Laing, N. G. <strong>Skeletal muscle alpha-actin diseases (actinopathies): pathology and mechanisms.</strong> Acta Neuropath. 125: 19-32, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22825594/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22825594</a>] [<a href="https://doi.org/10.1007/s00401-012-1019-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22825594">Nowak et al., 2013</a>; <a href="#27" class="mim-tip-reference" title="Sewry, C. A., Laitila, J. M., Wallgren-Pettersson, C. <strong>Nemaline myopathies: a current view.</strong> J. Muscle Res. Cell Motil. 40: 111-126, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31228046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31228046</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31228046[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/10.1007/s10974-019-09519-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31228046">Sewry et al., 2019</a>; <a href="#15" class="mim-tip-reference" title="Laitila, J., Wallgren-Pettersson, C. <strong>Recent advances in nemaline myopathy.</strong> Neuromusc. Disord. 31: 955-967, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34561123/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34561123</a>] [<a href="https://doi.org/10.1016/j.nmd.2021.07.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34561123">Laitila and Wallgren-Pettersson, 2021</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11558787+15236405+19562689+22825594+31228046+34561123+11516997" 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>The most common histologic finding on muscle biopsy in patients with ACTA1 mutations is the presence of 'nemaline rods,' which represent abnormal thread- or rod-like structures ('nema' is Greek for 'thread'). However, skeletal muscle biopsy from patients with mutations in the ACTA1 gene can show a range of pathologic phenotypes. These include classic rods, intranuclear rods, clumped filaments, cores, or fiber-type disproportion, all of which are nonspecific pathologic findings and not pathognomonic of a specific congenital myopathy. Most patients have clinically severe disease, regardless of the histopathologic phenotype (<a href="#19" class="mim-tip-reference" title="Nowak, K. J., Sewry, C. A., Navarro, C., Squier, W., Reina, C., Ricoy, J. R., Jayawant, S. S., Childs, A. M., Dobbie, J. A., Appleton, R. E., Mountford, R. C., Walker, K. R., Clement, S., Barois, A., Muntoni, F., Romero, N. B., Laing, N. G. <strong>Nemaline myopathy caused by absence of alpha-skeletal muscle actin.</strong> Ann. Neurol. 61: 175-184, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17187373/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17187373</a>] [<a href="https://doi.org/10.1002/ana.21035" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17187373">Nowak et al., 2007</a>; <a href="#27" class="mim-tip-reference" title="Sewry, C. A., Laitila, J. M., Wallgren-Pettersson, C. <strong>Nemaline myopathies: a current view.</strong> J. Muscle Res. Cell Motil. 40: 111-126, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31228046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31228046</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31228046[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/10.1007/s10974-019-09519-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31228046">Sewry et al., 2019</a>). ACTA1 mutations are the second most common cause of congenital myopathies classified histologically as 'nemaline myopathy' after mutations in the NEB gene (<a href="/entry/161650">161650</a>). ACTA1 mutations are overrepresented in the severe phenotype with early death (<a href="#14" class="mim-tip-reference" title="Laing, N. G., Dye, D. E., Wallgren-Pettersson, C., Richard, G., Monnier, N., Lillis, S., Winder, T. L., Lochmuller, H., Graziano, C., Mitrani-Rosenbaum, S., Twomey, D., Sparrow, J. C., Beggs, A. H., Nowak, K. J. <strong>Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).</strong> Hum. Mutat. 30: 1267-1277, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19562689/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19562689</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19562689[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/10.1002/humu.21059" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19562689">Laing et al., 2009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17187373+31228046+19562689" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For a discussion of genetic heterogeneity of congenital myopathy, see CMYO1A (<a href="/entry/117000">117000</a>).</p><p>For a discussion of genetic heterogeneity of nemaline myopathy, see NEM2 (<a href="/entry/256030">256030</a>).</p>
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<p><a href="#8" class="mim-tip-reference" title="Ilkovski, B., Cooper, S. T., Nowak, K., Ryan, M. M., Yang, N., Schnell, C., Durling, H. J., Roddick, L. G., Wilkinson, I., Kornberg, A. J., Collins, K. J., Wallace, G., Gunning, P., Hardeman, E. C., Laing, N. G., North, K. N. <strong>Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.</strong> Am. J. Hum. Genet. 68: 1333-1343, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11333380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11333380</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11333380[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/320605" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11333380">Ilkovski et al. (2001)</a> reported 2 unrelated patients with a typical form of CMYO2A. P3 had no problems during the neonatal period. At age 5 years, he presented with inability to run and frequent falls. He had poor muscle bulk, pes cavus, and bilateral foot drop. By age 10 years, he showed slowly progressive weakness and involvement of the proximal muscles. P4 had been weak and hypotonic at birth with poor feeding, recurrent infections, and delayed motor development, but the muscle weakness was nonprogressive. At age 45 years, he was physically active and regularly engaged in long-distance competitive cycling, although he had a weak cough and frequent respiratory infections. Genetic analysis identified 2 different heterozygous missense mutations in the ACTA1 gene: P3 carried a de novo G286C mutation (<a href="/entry/102610#0007">102610.0007</a>), whereas P4 carried a heterozygous I136M mutation (<a href="/entry/102610#0008">102610.0008</a>) that likely occurred de novo since he had no family history of a similar disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11333380" 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="#8" class="mim-tip-reference" title="Ilkovski, B., Cooper, S. T., Nowak, K., Ryan, M. M., Yang, N., Schnell, C., Durling, H. J., Roddick, L. G., Wilkinson, I., Kornberg, A. J., Collins, K. J., Wallace, G., Gunning, P., Hardeman, E. C., Laing, N. G., North, K. N. <strong>Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.</strong> Am. J. Hum. Genet. 68: 1333-1343, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11333380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11333380</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11333380[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/320605" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11333380">Ilkovski et al. (2001)</a> reported a family (family A) in which a mother and her 2 children were affected with CMYO2A. The 35-year-old mother had typical congenital myopathy with neonatal onset of feeding difficulties, respiratory tract infections, hypotonia, facial diplegia, and proximal muscle weakness in the first weeks of life. Her disease was very slowly progressive or nonprogressive. She had 2 affected children, a daughter aged 19 years and a son aged 4 years at the time of the report. The daughter had onset of disease at age 6 years, with mild proximal weakness and frequent falls, and developed progressive scoliosis requiring surgery at age 14 years. The son had feature of congenital myopathy in infancy, and showed nonprogressive weakness with improvement of mild nocturnal hypoventilation over time. Skeletal muscle biopsy from all patients showed nemaline bodies, although there was marked variability in the percentage of fibers with rods. Genetic analysis identified a heterozygous missense mutation in the ACTA1 gene in all 3 patients (N115S; <a href="/entry/102610#0002">102610.0002</a>). The intrafamilial variability observed suggested that the ACTA1 genotype is not the sole determinant of the phenotype and that modifying factors, both genetic and stochastic influence the clinical presentation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11333380" 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="#23" class="mim-tip-reference" title="Ryan, M. M., Schnell, C., Strickland, C. D., Shield, L. K., Morgan, G., Iannaccone, S. T., Laing, N. G., Beggs, A. H., North, K. N. <strong>Nemaline myopathy: a clinical study of 143 cases.</strong> Ann. Neurol. 50: 312-320, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11558787/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11558787</a>] [<a href="https://doi.org/10.1002/ana.1080" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11558787">Ryan et al. (2001)</a> reviewed the clinical features of 143 Australian and North American patients with congenital myopathy associated with nemaline rods on skeletal muscle biopsy. Mutations in the ACTA1 gene were identified in 22 of 71 patients tested; some of the patients had previously been reported by <a href="#20" class="mim-tip-reference" title="Nowak, K. J., Wattanasirichaigoon, D., Goebel, H. H., Wilce, M., Pelin, K., Donner, K., Jacob, R. L., Hubner, C., Oexle, K., Anderson, J. R., Verity, C. M., North, K. N., and 13 others. <strong>Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.</strong> Nature Genet. 23: 208-212, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10508519/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10508519</a>] [<a href="https://doi.org/10.1038/13837" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10508519">Nowak et al. (1999)</a>. Mutations in the TPM3 gene (<a href="/entry/191030">191030</a>) were found in 4 of 46 patients tested. As classified clinically by the guidelines of the European Neuromuscular Centre, 23 patients had severe congenital, 29 intermediate congenital, 66 typical congenital, 19 childhood-onset, and 6 adult-onset forms of the disease. Inheritance was autosomal recessive in 29 patients, autosomal dominant in 41, sporadic in 72, and indeterminate in 1. Prenatal expression of nemaline myopathy was reflected in its association with the fetal akinesia sequence and the frequency of obstetric complications, which occurred in 35 cases (51%), including polyhydramnios (29%), decreased fetal movements (39%), and abnormal presentation of fetal distress (49%). Significant respiratory disease occurred in the first year of life in 75 patients, and 79 had feeding difficulties. Atypical features in a minority of cases included arthrogryposis, central nervous system involvement, and congenital fractures. Progressive distal weakness developed in a minority of patients. Thirty patients died, most of them during the first 12 months of life. All deaths were due to respiratory insufficiency, which was frequently underrecognized in older patients. Morbidity from respiratory tract infections and feeding difficulties frequently diminished with increasing age. Aggressive early management was considered warranted in most cases of congenital nemaline myopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11558787+10508519" 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="Agrawal, P. B., Strickland, C. D., Midgett, C., Morales, A., Newburger, D. E., Poulos, M. A., Tomczak, K. K., Ryan, M. M., Iannaccone, S. T., Crawford, T. O., Laing, N. G., Beggs, A. H. <strong>Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations.</strong> Ann. Neurol. 56: 86-96, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15236405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15236405</a>] [<a href="https://doi.org/10.1002/ana.20157" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15236405">Agrawal et al. (2004)</a> identified 4 unrelated families (80, 90, 104, and 120) with autosomal dominant CMYO2A associated with heterozygous missense mutations in the ACTA1 gene. One of the 2 patients in family 90 presented at birth with hypotonia, failure to thrive, and recurrent pneumonia. He was tube-fed for several months. He was alive and ambulatory at 34 years of age with restrictive lung disease and easy fatigability. He had a history of surgery for scoliosis at 18 years of age. The other patient in family 90 presented in infancy with delayed motor development, but no acute issues. He was alive and ambulatory at 7 years of age. Genetic analysis identified a heterozygous K373Q mutation in the ACTA1 gene. Five females in another family (104) segregated typical congenital myopathy associated with a heterozygous Q246R mutation in the ACTA1 gene. The inheritance pattern was clearly autosomal dominant. Four of the patients, ranging from 9 to 41 years of age, had weakness in early childhood, resulting in frequent falls and difficulty with steps. All were ambulatory and had no respiratory or feeding issues. The fifth member of the family had only mild leg weakness in childhood and was ambulatory with no other symptoms at 15 years of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15236405" 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="Agrawal, P. B., Strickland, C. D., Midgett, C., Morales, A., Newburger, D. E., Poulos, M. A., Tomczak, K. K., Ryan, M. M., Iannaccone, S. T., Crawford, T. O., Laing, N. G., Beggs, A. H. <strong>Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations.</strong> Ann. Neurol. 56: 86-96, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15236405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15236405</a>] [<a href="https://doi.org/10.1002/ana.20157" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15236405">Agrawal et al. (2004)</a> reported several patients with typical or mild CMYO2A confirmed by genetic analysis and no family history of the disorder. Although most patients had symptom onset at birth or in infancy, they were alive and ambulatory in childhood and adulthood. Some had easy fatigability or mild respiratory symptoms. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15236405" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Kaindl, A. M., Ruschendorf, F., Krause, S., Goebel, H.-H., Koehler, K., Becker, C., Pongratz, D., Muller-Hocker, J., Nurnberg, P., Stoltenburg-Didinger, G., Lochmuller, H., Huebner, A. <strong>Missense mutations of ACTA1 cause dominant congenital myopathy with cores.</strong> J. Med. Genet. 41: 842-848, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15520409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15520409</a>] [<a href="https://doi.org/10.1136/jmg.2004.020271" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15520409">Kaindl et al. (2004)</a> reported 2 unrelated families with onset of proximal or generalized weakness in early childhood. There was moderate muscle weakness with delayed motor milestones, facial weakness, and mild skeletal anomalies, including scoliosis, high-arched palate, genu valgum or varum, and funnel chest. One family had onset in infancy. In the second family, 2 affected individuals developed hypertrophic cardiomyopathy associated with respiratory difficulties in the middle adult years. The disease course in both families was nonprogressive. Histologically, 'cores' were detected in the muscle fibers of at least 1 patient in each family, whereas nemaline bodies or rods and actin filament accumulation were absent. The cores were unstructured, poorly circumscribed, central or eccentric, and were atypical of central core disease. One patient did not have cores on biopsy. There was type 1 fiber type predominance. Genetic analysis identified heterozygous missense mutations in the ACTA1 gene in the 2 families (<a href="/entry/102610#0009">102610.0009</a> and <a href="/entry/102610#0010">102610.0010</a>, respectively). <a href="#12" class="mim-tip-reference" title="Kaindl, A. M., Ruschendorf, F., Krause, S., Goebel, H.-H., Koehler, K., Becker, C., Pongratz, D., Muller-Hocker, J., Nurnberg, P., Stoltenburg-Didinger, G., Lochmuller, H., Huebner, A. <strong>Missense mutations of ACTA1 cause dominant congenital myopathy with cores.</strong> J. Med. Genet. 41: 842-848, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15520409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15520409</a>] [<a href="https://doi.org/10.1136/jmg.2004.020271" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15520409">Kaindl et al. (2004)</a> concluded that their findings established mutation in the ACTA1 gene as a cause of dominant congenital myopathy with cores, and delineated another clinicopathologic phenotype for ACTA1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15520409" 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="#7" class="mim-tip-reference" title="Hutchinson, D. O., Charlton, A., Laing, N. G., Ilkovski, B., North, K. N. <strong>Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred.</strong> Neuromusc. Disord. 16: 113-121, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16427282/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16427282</a>] [<a href="https://doi.org/10.1016/j.nmd.2005.11.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16427282">Hutchinson et al. (2006)</a> reported 4 patients from a 3-generation family with autosomal dominant CMYO2A. Three of the patients had onset in infancy with hypotonia and failure to thrive; the fourth patient had onset before age 5 years. All had muscle weakness throughout life and a thin face with thin limbs. Skeletal muscle biopsies showed variation in fiber diameter, type 1 fiber predominance, and intranuclear rods within muscle fibers, although the number of nemaline rods varied between patients. Genetic analysis identified a heterozygous mutation in the ACTA1 gene (V163M; <a href="/entry/102610#0014">102610.0014</a>) that segregated with the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16427282" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Gatayama, R., Ueno, K., Nakamura, H., Yanagi, S., Ueda, H., Yamagishi, H., Yasui, S. <strong>Nemaline myopathy with dilated cardiomyopathy in childhood.</strong> Pediatrics 131: e1986-1990, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23650303/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23650303</a>] [<a href="https://doi.org/10.1542/peds.2012-1139" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23650303">Gatayama et al. (2013)</a> reported a 9-year-old Japanese boy with congenital myopathy associated with a heterozygous mutation in the ACTA1 gene (W358C; <a href="/entry/102610#0017">102610.0017</a>) who developed fatal dilated cardiomyopathy in childhood. He had no family history of the disorder, suggesting that the mutation occurred de novo. The patient had normal motor development in early childhood, but showed mild nonprogressive skeletal muscle weakness, such as slowed running compared to his peers. Other features included hypotonia, myopathic facies, high-arched palate, and mild weakness of proximal and distal muscles. He presented at age 9 years with acute deterioration of cardiac function, and died of cardiac failure 6 months later. Postmortem examination of cardiac muscle showed variation in myocardial fiber size and a few electron-dense fine structures related to Z lines. Skeletal muscle biopsy had previously shown typical nemaline rods. <a href="#4" class="mim-tip-reference" title="Gatayama, R., Ueno, K., Nakamura, H., Yanagi, S., Ueda, H., Yamagishi, H., Yasui, S. <strong>Nemaline myopathy with dilated cardiomyopathy in childhood.</strong> Pediatrics 131: e1986-1990, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23650303/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23650303</a>] [<a href="https://doi.org/10.1542/peds.2012-1139" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23650303">Gatayama et al. (2013)</a> noted that childhood-onset dilated cardiomyopathy is rare in patients with ACTA1 mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23650303" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#26" class="mim-tip-reference" title="Sewry, C. A., Holton, J. L., Dick, D. J., Muntoni, F., Hanna, M. G. <strong>Zebra body myopathy is caused by a mutation in the skeletal muscle actin gene (ACTA1).</strong> Neuromusc. Disord. 25: 388-391, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25747004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25747004</a>] [<a href="https://doi.org/10.1016/j.nmd.2015.02.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25747004">Sewry et al. (2015)</a> provided follow-up of a patient previously reported by <a href="#16" class="mim-tip-reference" title="Lake, B. D., Wilson, J. <strong>Zebra body myopathy. Clinical, histochemical and ultrastructural studies.</strong> J. Neurol. Sci. 24: 437-446, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/163896/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">163896</a>] [<a href="https://doi.org/10.1016/0022-510x(75)90169-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="163896">Lake and Wilson (1975)</a> as having congenital myopathy associated with 'zebra bodies' on skeletal muscle biopsy. He had hypotonia at birth and delayed motor development with inability to run or climb stairs. At age 14, he had 2 episodes of torticollis and showed a waddling gait and positive Gowers sign. Serum creatine kinase had been normal in childhood, but was later elevated. A repeat muscle biopsy at age 29 years showed wide variation in fiber size, internal nuclei, nemaline rods, a few zebra bodies, and accumulation of actin-like thin filaments. He was wheelchair-bound at age 55. Genetic analysis identified a heterozygous, likely de novo, missense mutation in the ACTA1 gene (L348Q). This case demonstrated some patients with ACTA1 mutations can have a milder phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=25747004+163896" 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>Most heterozygous ACTA1 mutations causing typical congenital myopathy-2A occur de novo. Less frequently, autosomal dominant transmission of the disorder within a family may occur when the ACTA1 mutation produces a phenotype compatible with adult life (summary by <a href="#14" class="mim-tip-reference" title="Laing, N. G., Dye, D. E., Wallgren-Pettersson, C., Richard, G., Monnier, N., Lillis, S., Winder, T. L., Lochmuller, H., Graziano, C., Mitrani-Rosenbaum, S., Twomey, D., Sparrow, J. C., Beggs, A. H., Nowak, K. J. <strong>Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).</strong> Hum. Mutat. 30: 1267-1277, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19562689/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19562689</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19562689[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/10.1002/humu.21059" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19562689">Laing et al., 2009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19562689" 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>The transmission pattern of CMYO2A in the 4 families reported by <a href="#2" class="mim-tip-reference" title="Agrawal, P. B., Strickland, C. D., Midgett, C., Morales, A., Newburger, D. E., Poulos, M. A., Tomczak, K. K., Ryan, M. M., Iannaccone, S. T., Crawford, T. O., Laing, N. G., Beggs, A. H. <strong>Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations.</strong> Ann. Neurol. 56: 86-96, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15236405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15236405</a>] [<a href="https://doi.org/10.1002/ana.20157" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15236405">Agrawal et al. (2004)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15236405" 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="#2" class="mim-tip-reference" title="Agrawal, P. B., Strickland, C. D., Midgett, C., Morales, A., Newburger, D. E., Poulos, M. A., Tomczak, K. K., Ryan, M. M., Iannaccone, S. T., Crawford, T. O., Laing, N. G., Beggs, A. H. <strong>Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations.</strong> Ann. Neurol. 56: 86-96, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15236405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15236405</a>] [<a href="https://doi.org/10.1002/ana.20157" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15236405">Agrawal et al. (2004)</a> identified 29 mutations in the ACTA1 gene (see, e.g., <a href="/entry/102610#0025">102610.0025</a> and <a href="/entry/102610#0026">102610.0026</a>) in 38 patients from 28 families with congenital myopathy. Most had no family history of the disorder (24 of 28) and carried de novo heterozygous missense variants. Four families showing autosomal dominant transmission of the mutation were identified, and 1 family with recessive transmission was identified (see CMYO2B, <a href="/entry/620265">620265</a>). Although there was phenotypic variability, even within families, most individuals had a severe clinical presentation in the neonatal period, sometimes resulting in death. The authors noted that heterozygous missense mutations in the ACTA1 gene most likely result in a dominant-negative effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15236405" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#14" class="mim-tip-reference" title="Laing, N. G., Dye, D. E., Wallgren-Pettersson, C., Richard, G., Monnier, N., Lillis, S., Winder, T. L., Lochmuller, H., Graziano, C., Mitrani-Rosenbaum, S., Twomey, D., Sparrow, J. C., Beggs, A. H., Nowak, K. J. <strong>Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).</strong> Hum. Mutat. 30: 1267-1277, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19562689/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19562689</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19562689[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/10.1002/humu.21059" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19562689">Laing et al. (2009)</a> described 177 different disease-causing variants in the ACTA1 gene, including ones previously reported in the literature and ones identified in their study. Of the 177 mutations, 74 arose de novo, 21 showed dominant inheritance within a family, and 17 showed recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19562689" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Typical Congenital Myopathy 2A</em></strong></p><p>
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In 2 unrelated patients (P7 and P10) with a milder form of CMYO2A, <a href="#20" class="mim-tip-reference" title="Nowak, K. J., Wattanasirichaigoon, D., Goebel, H. H., Wilce, M., Pelin, K., Donner, K., Jacob, R. L., Hubner, C., Oexle, K., Anderson, J. R., Verity, C. M., North, K. N., and 13 others. <strong>Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.</strong> Nature Genet. 23: 208-212, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10508519/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10508519</a>] [<a href="https://doi.org/10.1038/13837" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10508519">Nowak et al. (1999)</a> identified heterozygous missense mutations in the ACTA1 gene (M132V and G182D). Clinical details were limited, but these patients were classified as having a milder disease; they were alive at 3 and 39 years of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10508519" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a mother and her 2 affected children with variable manifestations of CMYO2A, <a href="#20" class="mim-tip-reference" title="Nowak, K. J., Wattanasirichaigoon, D., Goebel, H. H., Wilce, M., Pelin, K., Donner, K., Jacob, R. L., Hubner, C., Oexle, K., Anderson, J. R., Verity, C. M., North, K. N., and 13 others. <strong>Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.</strong> Nature Genet. 23: 208-212, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10508519/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10508519</a>] [<a href="https://doi.org/10.1038/13837" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10508519">Nowak et al. (1999)</a> identified a heterozygous missense mutation in the ACTA1 gene (N115S; <a href="/entry/102610#0002">102610.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10508519" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 3 affected members of a 2-generation family (family A) with autosomal dominant CMYO2A, <a href="#8" class="mim-tip-reference" title="Ilkovski, B., Cooper, S. T., Nowak, K., Ryan, M. M., Yang, N., Schnell, C., Durling, H. J., Roddick, L. G., Wilkinson, I., Kornberg, A. J., Collins, K. J., Wallace, G., Gunning, P., Hardeman, E. C., Laing, N. G., North, K. N. <strong>Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.</strong> Am. J. Hum. Genet. 68: 1333-1343, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11333380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11333380</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11333380[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/320605" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11333380">Ilkovski et al. (2001)</a> identified a heterozygosity for the N115S missense mutation in the ACTA1 gene (<a href="/entry/102610#0002">102610.0002</a>). The intrafamilial variability observed suggested that the ACTA1 genotype is not the sole determinant of the phenotype and that modifying factors, both genetic and stochastic influence the clinical presentation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11333380" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 unrelated patients (P3 and P4) with a typical form of CMYO2A, <a href="#8" class="mim-tip-reference" title="Ilkovski, B., Cooper, S. T., Nowak, K., Ryan, M. M., Yang, N., Schnell, C., Durling, H. J., Roddick, L. G., Wilkinson, I., Kornberg, A. J., Collins, K. J., Wallace, G., Gunning, P., Hardeman, E. C., Laing, N. G., North, K. N. <strong>Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.</strong> Am. J. Hum. Genet. 68: 1333-1343, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11333380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11333380</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11333380[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/320605" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11333380">Ilkovski et al. (2001)</a> identified 2 different heterozygous missense mutations in the ACTA1 gene: P3 carried a de novo G286C mutation (<a href="/entry/102610#0007">102610.0007</a>), whereas P4 carried a heterozygous I136M mutation (<a href="/entry/102610#0008">102610.0008</a>) that likely occurred de novo since he had no family history of a similar disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11333380" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of 2 unrelated families with CMYO2A, <a href="#12" class="mim-tip-reference" title="Kaindl, A. M., Ruschendorf, F., Krause, S., Goebel, H.-H., Koehler, K., Becker, C., Pongratz, D., Muller-Hocker, J., Nurnberg, P., Stoltenburg-Didinger, G., Lochmuller, H., Huebner, A. <strong>Missense mutations of ACTA1 cause dominant congenital myopathy with cores.</strong> J. Med. Genet. 41: 842-848, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15520409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15520409</a>] [<a href="https://doi.org/10.1136/jmg.2004.020271" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15520409">Kaindl et al. (2004)</a> identified heterozygous missense mutations in the ACTA1 gene (D1Y; <a href="/entry/102610#0009">102610.0009</a> and E334A; <a href="/entry/102610#0010">102610.0010</a>, respectively). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15520409" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 4 patients from a 3-generation family with autosomal dominant CMYO2A, <a href="#7" class="mim-tip-reference" title="Hutchinson, D. O., Charlton, A., Laing, N. G., Ilkovski, B., North, K. N. <strong>Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred.</strong> Neuromusc. Disord. 16: 113-121, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16427282/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16427282</a>] [<a href="https://doi.org/10.1016/j.nmd.2005.11.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16427282">Hutchinson et al. (2006)</a> identified a heterozygous mutation in the ACTA1 gene (V163M; <a href="/entry/102610#0014">102610.0014</a>) that segregated with the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16427282" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Japanese boy with CMYO2A who died of cardiomyopathy at age 9.5 years, <a href="#4" class="mim-tip-reference" title="Gatayama, R., Ueno, K., Nakamura, H., Yanagi, S., Ueda, H., Yamagishi, H., Yasui, S. <strong>Nemaline myopathy with dilated cardiomyopathy in childhood.</strong> Pediatrics 131: e1986-1990, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23650303/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23650303</a>] [<a href="https://doi.org/10.1542/peds.2012-1139" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23650303">Gatayama et al. (2013)</a> identified a heterozygous missense mutation in the ACTA1 gene (W358C; <a href="/entry/102610#0017">102610.0017</a>). <a href="#4" class="mim-tip-reference" title="Gatayama, R., Ueno, K., Nakamura, H., Yanagi, S., Ueda, H., Yamagishi, H., Yasui, S. <strong>Nemaline myopathy with dilated cardiomyopathy in childhood.</strong> Pediatrics 131: e1986-1990, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23650303/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23650303</a>] [<a href="https://doi.org/10.1542/peds.2012-1139" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23650303">Gatayama et al. (2013)</a> noted that childhood-onset dilated cardiomyopathy is rare in patients with ACTA1 mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23650303" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 55-year-old man with CMYO2A previously reported by <a href="#16" class="mim-tip-reference" title="Lake, B. D., Wilson, J. <strong>Zebra body myopathy. Clinical, histochemical and ultrastructural studies.</strong> J. Neurol. Sci. 24: 437-446, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/163896/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">163896</a>] [<a href="https://doi.org/10.1016/0022-510x(75)90169-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="163896">Lake and Wilson (1975)</a>, <a href="#26" class="mim-tip-reference" title="Sewry, C. A., Holton, J. L., Dick, D. J., Muntoni, F., Hanna, M. G. <strong>Zebra body myopathy is caused by a mutation in the skeletal muscle actin gene (ACTA1).</strong> Neuromusc. Disord. 25: 388-391, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25747004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25747004</a>] [<a href="https://doi.org/10.1016/j.nmd.2015.02.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25747004">Sewry et al. (2015)</a> identified a heterozygous, likely de novo, missense mutation in the ACTA1 gene (L348Q). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=25747004+163896" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By pathologic investigations of muscle biopsies from 3 patients with nemaline myopathy, <a href="#21" class="mim-tip-reference" title="Price, H. M., Gordon, G. B., Pearson, C. M., Munsat, T. L., Blumberg, J. M. <strong>New evidence for excessive accumulation of Z-band material in nemaline myopathy.</strong> Proc. Nat. Acad. Sci. 54: 1398-1406, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5218258/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5218258</a>] [<a href="https://doi.org/10.1073/pnas.54.5.1398" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5218258">Price et al. (1965)</a> determined that the pathologic fibrillar material was similar to and continuous with the material that constituted the Z band, and suggested that it was excessive accumulation of tropomyosin B (<a href="/entry/190990">190990</a>). <a href="#21" class="mim-tip-reference" title="Price, H. M., Gordon, G. B., Pearson, C. M., Munsat, T. L., Blumberg, J. M. <strong>New evidence for excessive accumulation of Z-band material in nemaline myopathy.</strong> Proc. Nat. Acad. Sci. 54: 1398-1406, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5218258/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5218258</a>] [<a href="https://doi.org/10.1073/pnas.54.5.1398" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5218258">Price et al. (1965)</a> noted that central core disease (<a href="/entry/117000">117000</a>) and nemaline myopathy had been reported in the same family (<a href="#1" class="mim-tip-reference" title="Afifi, A. K., Smith, J. W., Zellweger, H. <strong>Congenital nonprogressive myopathy: central core disease and nemaline myopathy in one family.</strong> Neurology 15: 371-381, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14280602/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14280602</a>] [<a href="https://doi.org/10.1212/wnl.15.4.371" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14280602">Afifi et al., 1965</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5218258+14280602" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Jennekens, F. G. I., Roord, J. J., Veldman, H., Willemse, J., Jockusch, B. M. <strong>Congenital nemaline myopathy. I. Defective organization of alpha-actinin is restricted to muscle.</strong> Muscle Nerve 6: 61-68, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6302502/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6302502</a>] [<a href="https://doi.org/10.1002/mus.880060111" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6302502">Jennekens et al. (1983)</a> reviewed the evidence that the nemaline bodies could be derived from lateral expansions of Z discs, and found that alpha-actinin (see, e.g., ACTN2; <a href="/entry/102573">102573</a>) was one of the main protein components of both the Z disc and the nemaline body. The defect in alpha-actinin was restricted to skeletal muscle cells; there was no abnormality of actin or alpha-actinin in nonmuscle cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6302502" 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="#35" class="mim-tip-reference" title="Wallgren-Pettersson, C., Rapola, J., Donner, M. <strong>Pathology of congenital nemaline myopathy: a follow-up study.</strong> J. Neurol. Sci. 83: 243-257, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3356991/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3356991</a>] [<a href="https://doi.org/10.1016/0022-510x(88)90072-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3356991">Wallgren-Pettersson et al. (1988)</a> studied repeated biopsies for periods varying from 5 to 18 years in 13 patients with congenital nemaline myopathy. Their most important conclusion was that this is a progressive disorder. One of the patients, a brother of the proband, had no nemaline bodies in his first biopsy, taken from the same muscle as the later biopsy which was diagnostic. A deficiency of type 2 fibers was suggested as the basis of the inability of the patients to run and otherwise engage in fast gross motor activity. In 9 of 13 patients with nemaline myopathy, <a href="#31" class="mim-tip-reference" title="Wallgren-Pettersson, C., Arjomaa, P., Holmberg, C. <strong>Alpha-actinin and myosin light chains in congenital nemaline myopathy.</strong> Pediat. Neurol. 6: 171-174, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2360957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2360957</a>] [<a href="https://doi.org/10.1016/0887-8994(90)90058-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2360957">Wallgren-Pettersson et al. (1990)</a> found reduced or absent alpha-actinin, which led them to conclude that the abnormality in this disorder resides in that molecule. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3356991+2360957" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#22" class="mim-tip-reference" title="Rifai, Z., Kazee, A. M., Kamp, C., Griggs, R. C. <strong>Intranuclear rods in severe congenital nemaline myopathy.</strong> Neurology 43: 2372-2377, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8232959/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8232959</a>] [<a href="https://doi.org/10.1212/wnl.43.11.2372" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8232959">Rifai et al. (1993)</a> compared the muscle pathology and clinical course in 8 patients with congenital nemaline myopathy. The family history was positive in 2 cases: one had 2 affected sisters and another had a single affected sister. In 1 patient with a negative family history and a rapid, fatal course, they found an abundance of large intranuclear rods in the muscle fibers, whereas these were absent in the muscles of the other 7 patients with a benign course. The large intranuclear rods and the smaller sarcoplasmic rods were similar ultrastructurally and exhibited positive immunoperoxidase staining with anti-alpha-actinin antibodies. <a href="#22" class="mim-tip-reference" title="Rifai, Z., Kazee, A. M., Kamp, C., Griggs, R. C. <strong>Intranuclear rods in severe congenital nemaline myopathy.</strong> Neurology 43: 2372-2377, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8232959/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8232959</a>] [<a href="https://doi.org/10.1212/wnl.43.11.2372" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8232959">Rifai et al. (1993)</a> suggested that the accumulation of alpha-actinin within myonuclei may reflect a severe disturbance of normal intracellular processes regulating myofibrillar synthesis. Since 2 previously reported infants with intranuclear nemaline rods also had a fatal outcome, <a href="#22" class="mim-tip-reference" title="Rifai, Z., Kazee, A. M., Kamp, C., Griggs, R. C. <strong>Intranuclear rods in severe congenital nemaline myopathy.</strong> Neurology 43: 2372-2377, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8232959/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8232959</a>] [<a href="https://doi.org/10.1212/wnl.43.11.2372" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8232959">Rifai et al. (1993)</a> suggested that the presence of intranuclear rods may represent a marker for a severe form of congenital nemaline myopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8232959" 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 immunoblot analysis, <a href="#9" class="mim-tip-reference" title="Ilkovski, B., Nowak, K. J., Domazetovska, A., Maxwell, A. L., Clement, S., Davies, K. E., Laing, N. G., North, K. N., Cooper, S. T. <strong>Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms.</strong> Hum. Molec. Genet. 13: 1727-1743, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15198992/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15198992</a>] [<a href="https://doi.org/10.1093/hmg/ddh185" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15198992">Ilkovski et al. (2004)</a> showed that muscle from patients with CMYO2A had increased levels of gamma-filamin (FLNC; <a href="/entry/102565">102565</a>), myotilin (TTID; <a href="/entry/604103">604103</a>), desmin (DES; <a href="/entry/125660">125660</a>), and alpha-actinin (ACTN1; <a href="/entry/102575">102575</a>), consistent with accumulation of Z line-derived nemaline bodies. Intranuclear aggregates were observed upon transfecting myoblasts with V163L- (<a href="/entry/102610#0004">102610.0004</a>), V163M- (<a href="/entry/102610#0014">102610.0014</a>), and R183G-null acting transgene constructs, and modeling showed these residues to be adjacent to the nuclear export signal of actin. Transfection studies further showed significant alterations in the ability of V136L and R183G actin mutants to polymerize and contribute to insoluble acting filaments. In vitro studies suggested that abnormal folding, altered polymerization, and aggregation of mutant actin isoforms may be common properties of ACTA1 mutants. A combination of these effects may contribute to the common pathologic hallmarks of NM, namely intranuclear and cytoplasmic rod formation, accumulation of thin filaments, and myofibrillar disorganization. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15198992" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Garcia-Angarita2009" class="mim-tip-reference" title="Garcia-Angarita, N., Kirschner, J., Heiliger, M., Thirion, C., Walter, M. C., Schnittfeld-Acarlioglu, S., Albrecht, M., Muller, K., Wieczorek, D., Lochmuller, H., Krause, S. <strong>Severe nemaline myopathy associated with consecutive mutations E74D and H75Y on a single ACTA1 allele.</strong> Neuromusc. Disord. 19: 481-484, 2009.">Garcia-Angarita et al. (2009)</a>; <a href="#Gillies1979" class="mim-tip-reference" title="Gillies, C., Raye, J., Vasan, U., Hart, W. E., Goldblatt, P. J. <strong>Nemaline rod myopathy: a possible cause of rapidly fatal infantile hypotonia.</strong> Arch. Path. Lab. Med. 103: 1-5, 1979.">Gillies et al. (1979)</a>; <a href="#Goebel1997" class="mim-tip-reference" title="Goebel, H. H., Anderson, J. R., Hubner, C., Oexle, K., Warlo, I. <strong>Congenital myopathy with excess of thin myofilaments.</strong> Neuromusc. Disord. 7: 160-168, 1997.">Goebel et al.
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(1997)</a>; <a href="#Jockusch1980" class="mim-tip-reference" title="Jockusch, B. M., Veldman, H., Griffiths, G. W., van Oost, B. A., Jennekens, F. G. I. <strong>Immunofluorescence microscopy of a myopathy: alpha-actinin is a major constituent of nemaline rods.</strong> Exp. Cell Res. 127: 409-420, 1980.">Jockusch et al. (1980)</a>; <a href="#Laing2004" class="mim-tip-reference" title="Laing, N. G., Clarke, N. F., Dye, D. E., Liyanage, K., Walker, K. R., Kobayashi, Y., Shimakawa, S., Hagiwara, T., Ouvrier, R., Sparrow, J. C., Nishino, I., North, K. N., Nonaka, I. <strong>Actin mutations are one cause of congenital fibre type disproportion.</strong> Ann. Neurol. 56: 689-694, 2004.">Laing et al. (2004)</a>; <a href="#North1997" class="mim-tip-reference" title="North, K. N., Laing, N. G., Wallgren-Pettersson, C., the ENMC International Consortium of Nemaline Myopathy. <strong>Nemaline myopathy: current concepts.</strong> J. Med. Genet. 34: 705-713, 1997. Note: Erratum: J. Med. Genet. 34: 879 only, 1997.">North et al.
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(1997)</a>; <a href="#Seidahmed2016" class="mim-tip-reference" title="Seidahmed, M. Z., Salih, M. A., Abdelbasit, O. B., Alassiri, A. H., Hussein, K. A., Miqdad, A., Samadi, A., Rasheed, A. A., Alorainy, I. A., Shaheen, R., Alkuraya, F. S. <strong>Gonadal mosaicism for ACTA1 gene masquerading as autosomal recessive nemaline myopathy.</strong> Am. J. Med. Genet. 170A: 2219-2221, 2016.">Seidahmed et al. (2016)</a>; <a href="#Stuhlfauth1983" class="mim-tip-reference" title="Stuhlfauth, I., Jennekens, F. G. I., Willemse, J., Jockusch, B. M. <strong>Congenital nemaline myopathy. II. Quantitative changes in alpha-actinin and myosin in skeletal muscle.</strong> Muscle Nerve 6: 69-74, 1983.">Stuhlfauth et al. (1983)</a>; <a href="#Tahvanainen1994" class="mim-tip-reference" title="Tahvanainen, E., Beggs, A. H., Wallgren-Pettersson, C. <strong>Exclusion of two candidate loci for autosomal recessive nemaline myopathy.</strong> J. Med. Genet. 31: 79-80, 1994.">Tahvanainen et al. (1994)</a>; <a href="#Topaloglu1994" class="mim-tip-reference" title="Topaloglu, H., Gogus, S., Yalaz, K., Kucukali, T., Serdaroglu, A. <strong>Two siblings with nemaline myopathy presenting with rigid spine syndrome.</strong> Neuromusc. Disord. 4: 263-267, 1994.">Topaloglu et al. (1994)</a>; <a href="#Wallgren-Pettersson1995" class="mim-tip-reference" title="Wallgren-Pettersson, C., Jasani, B., Newman, G. R., Morris, G. E., Jones, S., Singhrao, S., Clarke, A., Virtanen, I., Holmberg, C., Rapola, J. <strong>Alpha-actinin in nemaline bodies in congenital nemaline myopathy: immunological confirmation by light and electron microscopy.</strong> Neuromusc. Disord. 5: 93-104, 1995.">Wallgren-Pettersson et al. (1995)</a>; <a href="#Wallgren-Pettersson1990" class="mim-tip-reference" title="Wallgren-Pettersson, C., Kaariainen, H., Rapola, J., Salmi, T., Jaaskelainen, J., Donner, M. <strong>Genetics of congenital nemaline myopathy: a study of 10 families.</strong> J. Med. Genet. 27: 480-487, 1990.">Wallgren-Pettersson et al. (1990)</a>; <a href="#Wallgren-Pettersson1999" class="mim-tip-reference" title="Wallgren-Pettersson, C., Pelin, K., Hilpela, P., Donner, K., Porfirio, B., Graziano, C., Swoboda, K. J., Fardeau, M., Urtizberea, J. A., Muntoni, F., Sewry, C., Dubowitz, V., and 10 others. <strong>Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy.</strong> Neuromusc. Disord. 9: 564-572, 1999.">Wallgren-Pettersson et al. (1999)</a>; <a href="#Wallgren-Pettersson1989" class="mim-tip-reference" title="Wallgren-Pettersson, C. <strong>Congenital nemaline myopathy: a clinical follow-up study of twelve patients.</strong> J. Neurol. Sci. 89: 1-14, 1989.">Wallgren-Pettersson (1989)</a>
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Garcia-Angarita, N., Kirschner, J., Heiliger, M., Thirion, C., Walter, M. C., Schnittfeld-Acarlioglu, S., Albrecht, M., Muller, K., Wieczorek, D., Lochmuller, H., Krause, S.
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[<a href="https://doi.org/10.1016/j.nmd.2009.05.001" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1542/peds.2012-1139" target="_blank">Full Text</a>]
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Goebel, H. H., Anderson, J. R., Hubner, C., Oexle, K., Warlo, I.
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[<a href="https://doi.org/10.1016/j.nmd.2005.11.004" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11333380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11333380</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11333380[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=11333380" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/320605" target="_blank">Full Text</a>]
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<strong>Immunofluorescence microscopy of a myopathy: alpha-actinin is a major constituent of nemaline rods.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6991264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6991264</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6991264" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.2004.020271" target="_blank">Full Text</a>]
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<a id="Tahvanainen1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tahvanainen, E., Beggs, A. H., Wallgren-Pettersson, C.
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<strong>Exclusion of two candidate loci for autosomal recessive nemaline myopathy.</strong>
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|
J. Med. Genet. 31: 79-80, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8151647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8151647</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8151647" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.31.1.79" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="30" class="mim-anchor"></a>
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<a id="Topaloglu1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Topaloglu, H., Gogus, S., Yalaz, K., Kucukali, T., Serdaroglu, A.
|
|
<strong>Two siblings with nemaline myopathy presenting with rigid spine syndrome.</strong>
|
|
Neuromusc. Disord. 4: 263-267, 1994.
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|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7919974/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7919974</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7919974" 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/10.1016/0960-8966(94)90028-0" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="31" class="mim-anchor"></a>
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<a id="Wallgren-Pettersson1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wallgren-Pettersson, C., Arjomaa, P., Holmberg, C.
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|
<strong>Alpha-actinin and myosin light chains in congenital nemaline myopathy.</strong>
|
|
Pediat. Neurol. 6: 171-174, 1990.
|
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2360957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2360957</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2360957" 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/10.1016/0887-8994(90)90058-9" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="32" class="mim-anchor"></a>
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<a id="Wallgren-Pettersson1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wallgren-Pettersson, C., Jasani, B., Newman, G. R., Morris, G. E., Jones, S., Singhrao, S., Clarke, A., Virtanen, I., Holmberg, C., Rapola, J.
|
|
<strong>Alpha-actinin in nemaline bodies in congenital nemaline myopathy: immunological confirmation by light and electron microscopy.</strong>
|
|
Neuromusc. Disord. 5: 93-104, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7767098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7767098</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7767098" 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/10.1016/0960-8966(94)00035-8" target="_blank">Full Text</a>]
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<li>
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<a id="33" class="mim-anchor"></a>
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<a id="Wallgren-Pettersson1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wallgren-Pettersson, C., Kaariainen, H., Rapola, J., Salmi, T., Jaaskelainen, J., Donner, M.
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<strong>Genetics of congenital nemaline myopathy: a study of 10 families.</strong>
|
|
J. Med. Genet. 27: 480-487, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2213842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2213842</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2213842" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.27.8.480" target="_blank">Full Text</a>]
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<li>
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<a id="34" class="mim-anchor"></a>
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<a id="Wallgren-Pettersson1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wallgren-Pettersson, C., Pelin, K., Hilpela, P., Donner, K., Porfirio, B., Graziano, C., Swoboda, K. J., Fardeau, M., Urtizberea, J. A., Muntoni, F., Sewry, C., Dubowitz, V., and 10 others.
|
|
<strong>Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy.</strong>
|
|
Neuromusc. Disord. 9: 564-572, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10619714/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10619714</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10619714" 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/s0960-8966(99)00061-9" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="35" class="mim-anchor"></a>
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<a id="Wallgren-Pettersson1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wallgren-Pettersson, C., Rapola, J., Donner, M.
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<strong>Pathology of congenital nemaline myopathy: a follow-up study.</strong>
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J. Neurol. Sci. 83: 243-257, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3356991/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3356991</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3356991" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0022-510x(88)90072-x" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="36" class="mim-anchor"></a>
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<a id="Wallgren-Pettersson1989" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wallgren-Pettersson, C.
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<strong>Congenital nemaline myopathy: a clinical follow-up study of twelve patients.</strong>
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J. Neurol. Sci. 89: 1-14, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2926439/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2926439</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2926439" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0022-510x(89)90002-6" target="_blank">Full Text</a>]
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</p>
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</ol>
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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="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 03/01/2023
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</span>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 09/25/2019<br>Cassandra L. Kniffin - updated : 09/12/2016<br>Cassandra L. Kniffin - updated : 4/30/2014<br>Cassandra L. Kniffin - updated : 5/6/2013<br>Cassandra L. Kniffin - updated : 11/23/2009<br>Cassandra L. Kniffin - updated : 3/21/2008<br>George E. Tiller - updated : 1/23/2007<br>Cassandra L. Kniffin - updated : 9/19/2006<br>Cassandra L. Kniffin - updated : 1/11/2006<br>Cassandra L. Kniffin - reorganized : 4/7/2005<br>Cassandra L. Kniffin - updated : 1/21/2005<br>Victor A. McKusick - updated : 11/7/2001<br>Victor A. McKusick - updated : 10/8/2001<br>George E. Tiller - updated : 4/23/2001<br>Victor A. McKusick - updated : 4/28/1999
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</span>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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</span>
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<a id="editHistory" class="mim-anchor"></a>
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 07/16/2024
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 03/10/2023<br>ckniffin : 03/10/2023<br>alopez : 03/09/2023<br>ckniffin : 03/08/2023<br>carol : 03/08/2023<br>carol : 03/08/2023<br>carol : 03/06/2023<br>carol : 03/03/2023<br>carol : 03/03/2023<br>ckniffin : 03/01/2023<br>carol : 02/22/2022<br>carol : 10/30/2019<br>alopez : 09/25/2019<br>ckniffin : 09/25/2019<br>carol : 07/18/2018<br>carol : 02/08/2017<br>ckniffin : 02/06/2017<br>carol : 09/15/2016<br>ckniffin : 09/12/2016<br>carol : 08/18/2016<br>carol : 07/09/2016<br>carol : 5/23/2016<br>carol : 8/20/2015<br>carol : 1/5/2015<br>mcolton : 1/2/2015<br>ckniffin : 1/2/2015<br>carol : 5/1/2014<br>mcolton : 5/1/2014<br>ckniffin : 4/30/2014<br>carol : 4/9/2014<br>ckniffin : 4/7/2014<br>carol : 8/2/2013<br>carol : 8/2/2013<br>ckniffin : 8/1/2013<br>alopez : 5/10/2013<br>ckniffin : 5/6/2013<br>carol : 3/15/2013<br>terry : 4/10/2012<br>terry : 3/20/2012<br>terry : 3/3/2011<br>wwang : 2/9/2011<br>wwang : 12/10/2009<br>ckniffin : 11/23/2009<br>ckniffin : 9/28/2009<br>terry : 7/3/2008<br>wwang : 3/31/2008<br>ckniffin : 3/21/2008<br>carol : 3/11/2008<br>wwang : 1/23/2007<br>alopez : 1/5/2007<br>wwang : 9/21/2006<br>ckniffin : 9/19/2006<br>wwang : 1/18/2006<br>ckniffin : 1/11/2006<br>carol : 4/8/2005<br>ckniffin : 4/8/2005<br>carol : 4/7/2005<br>ckniffin : 4/5/2005<br>ckniffin : 4/4/2005<br>terry : 3/11/2005<br>tkritzer : 1/26/2005<br>ckniffin : 1/21/2005<br>carol : 6/12/2003<br>carol : 11/28/2001<br>mcapotos : 11/19/2001<br>terry : 11/7/2001<br>carol : 10/8/2001<br>cwells : 5/1/2001<br>cwells : 4/23/2001<br>alopez : 10/11/1999<br>terry : 4/28/1999<br>jenny : 11/5/1997<br>terry : 3/26/1996<br>mark : 2/1/1996<br>terry : 1/24/1996<br>carol : 1/20/1995<br>mimadm : 12/2/1994<br>davew : 8/19/1994<br>terry : 5/10/1994<br>pfoster : 4/1/1994<br>carol : 5/1/1992
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</span>
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 161800
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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CONGENITAL MYOPATHY 2A, TYPICAL, AUTOSOMAL DOMINANT; CMYO2A
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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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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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NEMALINE MYOPATHY 3; NEM3<br />
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MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS<br />
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NEMALINE MYOPATHY 3, WITH INTRANUCLEAR RODS<br />
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MYOPATHY, ACTIN, CONGENITAL, WITH CORES
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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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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 702349003;
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<strong>ORPHA:</strong> 171430, 171433, 171436, 171439, 98904;
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<strong>DO:</strong> 0110927;
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</span>
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</p>
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</div>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
|
|
Phenotype <br /> mapping key
|
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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|
Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
|
1q42.13
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
Congenital myopathy 2A, typical, autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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161800
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<td>
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ACTA1
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102610
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that autosomal dominant typical congenital myopathy-2A (CMYO2A) is caused by heterozygous mutation in the ACTA1 gene (102610) on chromosome 1q42.</p><p>Heterozygous mutation in the ACTA1 gene can also cause severe infantile congenital myopathy-2C (CMYO2C; 620278). Biallelic mutation in the ACTA1 gene causes autosomal recessive autosomal recessive congenital myopathy-2B (CMYO2B; 620265).</p>
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<strong>Description</strong>
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<p>Congenital myopathy-2A (CMYO2A) is an autosomal dominant disorder of the skeletal muscle characterized by infantile- or childhood-onset myopathy with delayed motor milestones and nonprogressive muscle weakness. Of the patients with congenital myopathy caused by mutation in the ACTA1 gene, about 90% carry heterozygous mutations that are usually de novo and cause the severe infantile phenotype (CMYO2C; 620278). Some patients with de novo mutations have a more typical and milder disease course with delayed motor development and proximal muscle weakness, but are able to achieve independent ambulation. Less frequently, autosomal dominant transmission of the disorder within a family may occur when the ACTA1 mutation produces a phenotype compatible with adult life. Of note, intrafamilial variability has also been reported: a severely affected proband may be identified and then mildly affected or even asymptomatic relatives are found to carry the same mutation. The severity of the disease most likely depends on the detrimental effect of the mutation, although there are probably additional modifying factors (Ryan et al., 2001; Laing et al., 2009; Sanoudou and Beggs, 2001; Agrawal et al., 2004; Nowak et al., 2013; Sewry et al., 2019; Laitila and Wallgren-Pettersson, 2021). </p><p>The most common histologic finding on muscle biopsy in patients with ACTA1 mutations is the presence of 'nemaline rods,' which represent abnormal thread- or rod-like structures ('nema' is Greek for 'thread'). However, skeletal muscle biopsy from patients with mutations in the ACTA1 gene can show a range of pathologic phenotypes. These include classic rods, intranuclear rods, clumped filaments, cores, or fiber-type disproportion, all of which are nonspecific pathologic findings and not pathognomonic of a specific congenital myopathy. Most patients have clinically severe disease, regardless of the histopathologic phenotype (Nowak et al., 2007; Sewry et al., 2019). ACTA1 mutations are the second most common cause of congenital myopathies classified histologically as 'nemaline myopathy' after mutations in the NEB gene (161650). ACTA1 mutations are overrepresented in the severe phenotype with early death (Laing et al., 2009). </p><p>For a discussion of genetic heterogeneity of congenital myopathy, see CMYO1A (117000).</p><p>For a discussion of genetic heterogeneity of nemaline myopathy, see NEM2 (256030).</p>
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<strong>Clinical Features</strong>
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<p>Ilkovski et al. (2001) reported 2 unrelated patients with a typical form of CMYO2A. P3 had no problems during the neonatal period. At age 5 years, he presented with inability to run and frequent falls. He had poor muscle bulk, pes cavus, and bilateral foot drop. By age 10 years, he showed slowly progressive weakness and involvement of the proximal muscles. P4 had been weak and hypotonic at birth with poor feeding, recurrent infections, and delayed motor development, but the muscle weakness was nonprogressive. At age 45 years, he was physically active and regularly engaged in long-distance competitive cycling, although he had a weak cough and frequent respiratory infections. Genetic analysis identified 2 different heterozygous missense mutations in the ACTA1 gene: P3 carried a de novo G286C mutation (102610.0007), whereas P4 carried a heterozygous I136M mutation (102610.0008) that likely occurred de novo since he had no family history of a similar disorder. </p><p>Ilkovski et al. (2001) reported a family (family A) in which a mother and her 2 children were affected with CMYO2A. The 35-year-old mother had typical congenital myopathy with neonatal onset of feeding difficulties, respiratory tract infections, hypotonia, facial diplegia, and proximal muscle weakness in the first weeks of life. Her disease was very slowly progressive or nonprogressive. She had 2 affected children, a daughter aged 19 years and a son aged 4 years at the time of the report. The daughter had onset of disease at age 6 years, with mild proximal weakness and frequent falls, and developed progressive scoliosis requiring surgery at age 14 years. The son had feature of congenital myopathy in infancy, and showed nonprogressive weakness with improvement of mild nocturnal hypoventilation over time. Skeletal muscle biopsy from all patients showed nemaline bodies, although there was marked variability in the percentage of fibers with rods. Genetic analysis identified a heterozygous missense mutation in the ACTA1 gene in all 3 patients (N115S; 102610.0002). The intrafamilial variability observed suggested that the ACTA1 genotype is not the sole determinant of the phenotype and that modifying factors, both genetic and stochastic influence the clinical presentation. </p><p>Ryan et al. (2001) reviewed the clinical features of 143 Australian and North American patients with congenital myopathy associated with nemaline rods on skeletal muscle biopsy. Mutations in the ACTA1 gene were identified in 22 of 71 patients tested; some of the patients had previously been reported by Nowak et al. (1999). Mutations in the TPM3 gene (191030) were found in 4 of 46 patients tested. As classified clinically by the guidelines of the European Neuromuscular Centre, 23 patients had severe congenital, 29 intermediate congenital, 66 typical congenital, 19 childhood-onset, and 6 adult-onset forms of the disease. Inheritance was autosomal recessive in 29 patients, autosomal dominant in 41, sporadic in 72, and indeterminate in 1. Prenatal expression of nemaline myopathy was reflected in its association with the fetal akinesia sequence and the frequency of obstetric complications, which occurred in 35 cases (51%), including polyhydramnios (29%), decreased fetal movements (39%), and abnormal presentation of fetal distress (49%). Significant respiratory disease occurred in the first year of life in 75 patients, and 79 had feeding difficulties. Atypical features in a minority of cases included arthrogryposis, central nervous system involvement, and congenital fractures. Progressive distal weakness developed in a minority of patients. Thirty patients died, most of them during the first 12 months of life. All deaths were due to respiratory insufficiency, which was frequently underrecognized in older patients. Morbidity from respiratory tract infections and feeding difficulties frequently diminished with increasing age. Aggressive early management was considered warranted in most cases of congenital nemaline myopathy. </p><p>Agrawal et al. (2004) identified 4 unrelated families (80, 90, 104, and 120) with autosomal dominant CMYO2A associated with heterozygous missense mutations in the ACTA1 gene. One of the 2 patients in family 90 presented at birth with hypotonia, failure to thrive, and recurrent pneumonia. He was tube-fed for several months. He was alive and ambulatory at 34 years of age with restrictive lung disease and easy fatigability. He had a history of surgery for scoliosis at 18 years of age. The other patient in family 90 presented in infancy with delayed motor development, but no acute issues. He was alive and ambulatory at 7 years of age. Genetic analysis identified a heterozygous K373Q mutation in the ACTA1 gene. Five females in another family (104) segregated typical congenital myopathy associated with a heterozygous Q246R mutation in the ACTA1 gene. The inheritance pattern was clearly autosomal dominant. Four of the patients, ranging from 9 to 41 years of age, had weakness in early childhood, resulting in frequent falls and difficulty with steps. All were ambulatory and had no respiratory or feeding issues. The fifth member of the family had only mild leg weakness in childhood and was ambulatory with no other symptoms at 15 years of age. </p><p>Agrawal et al. (2004) reported several patients with typical or mild CMYO2A confirmed by genetic analysis and no family history of the disorder. Although most patients had symptom onset at birth or in infancy, they were alive and ambulatory in childhood and adulthood. Some had easy fatigability or mild respiratory symptoms. </p><p>Kaindl et al. (2004) reported 2 unrelated families with onset of proximal or generalized weakness in early childhood. There was moderate muscle weakness with delayed motor milestones, facial weakness, and mild skeletal anomalies, including scoliosis, high-arched palate, genu valgum or varum, and funnel chest. One family had onset in infancy. In the second family, 2 affected individuals developed hypertrophic cardiomyopathy associated with respiratory difficulties in the middle adult years. The disease course in both families was nonprogressive. Histologically, 'cores' were detected in the muscle fibers of at least 1 patient in each family, whereas nemaline bodies or rods and actin filament accumulation were absent. The cores were unstructured, poorly circumscribed, central or eccentric, and were atypical of central core disease. One patient did not have cores on biopsy. There was type 1 fiber type predominance. Genetic analysis identified heterozygous missense mutations in the ACTA1 gene in the 2 families (102610.0009 and 102610.0010, respectively). Kaindl et al. (2004) concluded that their findings established mutation in the ACTA1 gene as a cause of dominant congenital myopathy with cores, and delineated another clinicopathologic phenotype for ACTA1. </p><p>Hutchinson et al. (2006) reported 4 patients from a 3-generation family with autosomal dominant CMYO2A. Three of the patients had onset in infancy with hypotonia and failure to thrive; the fourth patient had onset before age 5 years. All had muscle weakness throughout life and a thin face with thin limbs. Skeletal muscle biopsies showed variation in fiber diameter, type 1 fiber predominance, and intranuclear rods within muscle fibers, although the number of nemaline rods varied between patients. Genetic analysis identified a heterozygous mutation in the ACTA1 gene (V163M; 102610.0014) that segregated with the disorder. </p><p>Gatayama et al. (2013) reported a 9-year-old Japanese boy with congenital myopathy associated with a heterozygous mutation in the ACTA1 gene (W358C; 102610.0017) who developed fatal dilated cardiomyopathy in childhood. He had no family history of the disorder, suggesting that the mutation occurred de novo. The patient had normal motor development in early childhood, but showed mild nonprogressive skeletal muscle weakness, such as slowed running compared to his peers. Other features included hypotonia, myopathic facies, high-arched palate, and mild weakness of proximal and distal muscles. He presented at age 9 years with acute deterioration of cardiac function, and died of cardiac failure 6 months later. Postmortem examination of cardiac muscle showed variation in myocardial fiber size and a few electron-dense fine structures related to Z lines. Skeletal muscle biopsy had previously shown typical nemaline rods. Gatayama et al. (2013) noted that childhood-onset dilated cardiomyopathy is rare in patients with ACTA1 mutations. </p><p>Sewry et al. (2015) provided follow-up of a patient previously reported by Lake and Wilson (1975) as having congenital myopathy associated with 'zebra bodies' on skeletal muscle biopsy. He had hypotonia at birth and delayed motor development with inability to run or climb stairs. At age 14, he had 2 episodes of torticollis and showed a waddling gait and positive Gowers sign. Serum creatine kinase had been normal in childhood, but was later elevated. A repeat muscle biopsy at age 29 years showed wide variation in fiber size, internal nuclei, nemaline rods, a few zebra bodies, and accumulation of actin-like thin filaments. He was wheelchair-bound at age 55. Genetic analysis identified a heterozygous, likely de novo, missense mutation in the ACTA1 gene (L348Q). This case demonstrated some patients with ACTA1 mutations can have a milder phenotype. </p>
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<strong>Inheritance</strong>
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<p>Most heterozygous ACTA1 mutations causing typical congenital myopathy-2A occur de novo. Less frequently, autosomal dominant transmission of the disorder within a family may occur when the ACTA1 mutation produces a phenotype compatible with adult life (summary by Laing et al., 2009). </p><p>The transmission pattern of CMYO2A in the 4 families reported by Agrawal et al. (2004) was consistent with autosomal dominant inheritance. </p>
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<strong>Molecular Genetics</strong>
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<p>Agrawal et al. (2004) identified 29 mutations in the ACTA1 gene (see, e.g., 102610.0025 and 102610.0026) in 38 patients from 28 families with congenital myopathy. Most had no family history of the disorder (24 of 28) and carried de novo heterozygous missense variants. Four families showing autosomal dominant transmission of the mutation were identified, and 1 family with recessive transmission was identified (see CMYO2B, 620265). Although there was phenotypic variability, even within families, most individuals had a severe clinical presentation in the neonatal period, sometimes resulting in death. The authors noted that heterozygous missense mutations in the ACTA1 gene most likely result in a dominant-negative effect. </p><p>Laing et al. (2009) described 177 different disease-causing variants in the ACTA1 gene, including ones previously reported in the literature and ones identified in their study. Of the 177 mutations, 74 arose de novo, 21 showed dominant inheritance within a family, and 17 showed recessive inheritance. </p><p><strong><em>Typical Congenital Myopathy 2A</em></strong></p><p>
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In 2 unrelated patients (P7 and P10) with a milder form of CMYO2A, Nowak et al. (1999) identified heterozygous missense mutations in the ACTA1 gene (M132V and G182D). Clinical details were limited, but these patients were classified as having a milder disease; they were alive at 3 and 39 years of age. </p><p>In a mother and her 2 affected children with variable manifestations of CMYO2A, Nowak et al. (1999) identified a heterozygous missense mutation in the ACTA1 gene (N115S; 102610.0002). </p><p>In 3 affected members of a 2-generation family (family A) with autosomal dominant CMYO2A, Ilkovski et al. (2001) identified a heterozygosity for the N115S missense mutation in the ACTA1 gene (102610.0002). The intrafamilial variability observed suggested that the ACTA1 genotype is not the sole determinant of the phenotype and that modifying factors, both genetic and stochastic influence the clinical presentation. </p><p>In 2 unrelated patients (P3 and P4) with a typical form of CMYO2A, Ilkovski et al. (2001) identified 2 different heterozygous missense mutations in the ACTA1 gene: P3 carried a de novo G286C mutation (102610.0007), whereas P4 carried a heterozygous I136M mutation (102610.0008) that likely occurred de novo since he had no family history of a similar disorder. </p><p>In affected members of 2 unrelated families with CMYO2A, Kaindl et al. (2004) identified heterozygous missense mutations in the ACTA1 gene (D1Y; 102610.0009 and E334A; 102610.0010, respectively). </p><p>In 4 patients from a 3-generation family with autosomal dominant CMYO2A, Hutchinson et al. (2006) identified a heterozygous mutation in the ACTA1 gene (V163M; 102610.0014) that segregated with the disorder. </p><p>In a Japanese boy with CMYO2A who died of cardiomyopathy at age 9.5 years, Gatayama et al. (2013) identified a heterozygous missense mutation in the ACTA1 gene (W358C; 102610.0017). Gatayama et al. (2013) noted that childhood-onset dilated cardiomyopathy is rare in patients with ACTA1 mutations. </p><p>In a 55-year-old man with CMYO2A previously reported by Lake and Wilson (1975), Sewry et al. (2015) identified a heterozygous, likely de novo, missense mutation in the ACTA1 gene (L348Q). </p>
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<strong>Pathogenesis</strong>
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<p>By pathologic investigations of muscle biopsies from 3 patients with nemaline myopathy, Price et al. (1965) determined that the pathologic fibrillar material was similar to and continuous with the material that constituted the Z band, and suggested that it was excessive accumulation of tropomyosin B (190990). Price et al. (1965) noted that central core disease (117000) and nemaline myopathy had been reported in the same family (Afifi et al., 1965). </p><p>Jennekens et al. (1983) reviewed the evidence that the nemaline bodies could be derived from lateral expansions of Z discs, and found that alpha-actinin (see, e.g., ACTN2; 102573) was one of the main protein components of both the Z disc and the nemaline body. The defect in alpha-actinin was restricted to skeletal muscle cells; there was no abnormality of actin or alpha-actinin in nonmuscle cells. </p><p>Wallgren-Pettersson et al. (1988) studied repeated biopsies for periods varying from 5 to 18 years in 13 patients with congenital nemaline myopathy. Their most important conclusion was that this is a progressive disorder. One of the patients, a brother of the proband, had no nemaline bodies in his first biopsy, taken from the same muscle as the later biopsy which was diagnostic. A deficiency of type 2 fibers was suggested as the basis of the inability of the patients to run and otherwise engage in fast gross motor activity. In 9 of 13 patients with nemaline myopathy, Wallgren-Pettersson et al. (1990) found reduced or absent alpha-actinin, which led them to conclude that the abnormality in this disorder resides in that molecule. </p><p>Rifai et al. (1993) compared the muscle pathology and clinical course in 8 patients with congenital nemaline myopathy. The family history was positive in 2 cases: one had 2 affected sisters and another had a single affected sister. In 1 patient with a negative family history and a rapid, fatal course, they found an abundance of large intranuclear rods in the muscle fibers, whereas these were absent in the muscles of the other 7 patients with a benign course. The large intranuclear rods and the smaller sarcoplasmic rods were similar ultrastructurally and exhibited positive immunoperoxidase staining with anti-alpha-actinin antibodies. Rifai et al. (1993) suggested that the accumulation of alpha-actinin within myonuclei may reflect a severe disturbance of normal intracellular processes regulating myofibrillar synthesis. Since 2 previously reported infants with intranuclear nemaline rods also had a fatal outcome, Rifai et al. (1993) suggested that the presence of intranuclear rods may represent a marker for a severe form of congenital nemaline myopathy. </p><p>By immunoblot analysis, Ilkovski et al. (2004) showed that muscle from patients with CMYO2A had increased levels of gamma-filamin (FLNC; 102565), myotilin (TTID; 604103), desmin (DES; 125660), and alpha-actinin (ACTN1; 102575), consistent with accumulation of Z line-derived nemaline bodies. Intranuclear aggregates were observed upon transfecting myoblasts with V163L- (102610.0004), V163M- (102610.0014), and R183G-null acting transgene constructs, and modeling showed these residues to be adjacent to the nuclear export signal of actin. Transfection studies further showed significant alterations in the ability of V136L and R183G actin mutants to polymerize and contribute to insoluble acting filaments. In vitro studies suggested that abnormal folding, altered polymerization, and aggregation of mutant actin isoforms may be common properties of ACTA1 mutants. A combination of these effects may contribute to the common pathologic hallmarks of NM, namely intranuclear and cytoplasmic rod formation, accumulation of thin filaments, and myofibrillar disorganization. </p>
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<strong>See Also:</strong>
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</h4>
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Garcia-Angarita et al. (2009); Gillies et al. (1979); Goebel et al.
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(1997); Jockusch et al. (1980); Laing et al. (2004); North et al.
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(1997); Seidahmed et al. (2016); Stuhlfauth et al. (1983);
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Tahvanainen et al. (1994); Topaloglu et al. (1994);
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Wallgren-Pettersson et al. (1995); Wallgren-Pettersson et al. (1990);
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Wallgren-Pettersson et al. (1999); Wallgren-Pettersson (1989)
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<strong>REFERENCES</strong>
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Afifi, A. K., Smith, J. W., Zellweger, H.
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<strong>Congenital nonprogressive myopathy: central core disease and nemaline myopathy in one family.</strong>
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Neurology 15: 371-381, 1965.
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[PubMed: 14280602]
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[Full Text: https://doi.org/10.1212/wnl.15.4.371]
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Agrawal, P. B., Strickland, C. D., Midgett, C., Morales, A., Newburger, D. E., Poulos, M. A., Tomczak, K. K., Ryan, M. M., Iannaccone, S. T., Crawford, T. O., Laing, N. G., Beggs, A. H.
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<strong>Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations.</strong>
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Ann. Neurol. 56: 86-96, 2004.
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[PubMed: 15236405]
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[Full Text: https://doi.org/10.1002/ana.20157]
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Garcia-Angarita, N., Kirschner, J., Heiliger, M., Thirion, C., Walter, M. C., Schnittfeld-Acarlioglu, S., Albrecht, M., Muller, K., Wieczorek, D., Lochmuller, H., Krause, S.
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<strong>Severe nemaline myopathy associated with consecutive mutations E74D and H75Y on a single ACTA1 allele.</strong>
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Neuromusc. Disord. 19: 481-484, 2009.
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[PubMed: 19553116]
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[Full Text: https://doi.org/10.1016/j.nmd.2009.05.001]
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Gatayama, R., Ueno, K., Nakamura, H., Yanagi, S., Ueda, H., Yamagishi, H., Yasui, S.
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<strong>Nemaline myopathy with dilated cardiomyopathy in childhood.</strong>
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Pediatrics 131: e1986-1990, 2013. Note: Electronic Article.
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[PubMed: 23650303]
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[Full Text: https://doi.org/10.1542/peds.2012-1139]
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Gillies, C., Raye, J., Vasan, U., Hart, W. E., Goldblatt, P. J.
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<strong>Nemaline rod myopathy: a possible cause of rapidly fatal infantile hypotonia.</strong>
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Arch. Path. Lab. Med. 103: 1-5, 1979.
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[PubMed: 581546]
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Goebel, H. H., Anderson, J. R., Hubner, C., Oexle, K., Warlo, I.
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<strong>Congenital myopathy with excess of thin myofilaments.</strong>
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Neuromusc. Disord. 7: 160-168, 1997.
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[PubMed: 9185179]
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[Full Text: https://doi.org/10.1016/s0960-8966(97)00441-0]
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Hutchinson, D. O., Charlton, A., Laing, N. G., Ilkovski, B., North, K. N.
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<strong>Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred.</strong>
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Neuromusc. Disord. 16: 113-121, 2006.
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[PubMed: 16427282]
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[Full Text: https://doi.org/10.1016/j.nmd.2005.11.004]
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 03/01/2023<br>Cassandra L. Kniffin - updated : 09/25/2019<br>Cassandra L. Kniffin - updated : 09/12/2016<br>Cassandra L. Kniffin - updated : 4/30/2014<br>Cassandra L. Kniffin - updated : 5/6/2013<br>Cassandra L. Kniffin - updated : 11/23/2009<br>Cassandra L. Kniffin - updated : 3/21/2008<br>George E. Tiller - updated : 1/23/2007<br>Cassandra L. Kniffin - updated : 9/19/2006<br>Cassandra L. Kniffin - updated : 1/11/2006<br>Cassandra L. Kniffin - reorganized : 4/7/2005<br>Cassandra L. Kniffin - updated : 1/21/2005<br>Victor A. McKusick - updated : 11/7/2001<br>Victor A. McKusick - updated : 10/8/2001<br>George E. Tiller - updated : 4/23/2001<br>Victor A. McKusick - updated : 4/28/1999
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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