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Entry
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- #608810 - MYOPATHY, MYOFIBRILLAR, 2; MFM2
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- OMIM
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<span class="h4">#608810</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/608810"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS601419"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(MYOPATHY, MYOFIBRILLAR) OR (CRYAB)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=22745&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/7669" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=608810[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=399058" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div style="display: table-cell;">Animal Models</div>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0080093" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/608810" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/OMIA002330/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0080093" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 399058<br />
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<strong>DO:</strong> 0080093<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
|
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608810
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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MYOPATHY, MYOFIBRILLAR, 2; MFM2
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
MYOPATHY, MYOFIBRILLAR, ALPHA-B CRYSTALLIN-RELATED<br />
|
|
MYOPATHY, DESMIN-RELATED, ASSOCIATED WITH MUTATION IN THE CRYAB GENE<br />
|
|
ALPHA-B CRYSTALLINOPATHY<br />
|
|
MYOPATHY, MYOFIBRILLAR, WITH OR WITHOUT CATARACT AND/OR CARDIOMYOPATHY
|
|
</span>
|
|
</h4>
|
|
</div>
|
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</div>
|
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<div>
|
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<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/11/925?start=-3&limit=10&highlight=925">
|
|
11q23.1
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Myopathy, myofibrillar, 2
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608810"> 608810 </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">
|
|
CRYAB
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/123590"> 123590 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/608810" 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/PS601419" 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/608810" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/608810" 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> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cataracts <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/193570009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">193570009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247053007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247053007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95722004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95722004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H26.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H26.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/366" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">366</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/366.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">366.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0086543&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0086543</a>, <a href="https://bioportal.bioontology.org/search?q=C0521707&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0521707</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000518</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000518</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cardiomyopathy, hypertrophic <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/233873004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">233873004</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/425.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">425.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0007194&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007194</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001639</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001639</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> RESPIRATORY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Respiratory insufficiency due to muscle weakness <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806467&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806467</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002747" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002747</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002747" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002747</a>]</span> <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><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MUSCLE, SOFT TISSUES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Distal muscle weakness, occurs initially <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837322&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837322</a>]</span><br /> -
|
|
Proximal muscle weakness occurs later <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864709&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864709</a>]</span><br /> -
|
|
Limb-girdle muscle weakness <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1858127&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858127</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003325" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003325</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003325" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003325</a>]</span><br /> -
|
|
Foot drop <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/6077001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">6077001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/735601009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">735601009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M21.37" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M21.37</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2894499&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2894499</a>, <a href="https://bioportal.bioontology.org/search?q=C0085684&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085684</a>, <a href="https://bioportal.bioontology.org/search?q=C1866141&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866141</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009027" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009027</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009027" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009027</a>]</span><br /> -
|
|
Hyporeflexia at ankle joints <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837323&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837323</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009072" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009072</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009072" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009072</a>]</span><br /> -
|
|
Myopathic changes seen on EMG <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3276190&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3276190</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/129565002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">129565002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G72.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G72.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M62.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M62.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M60-M63" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M60-M63</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/359.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">359.9</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003198" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003198</a>]</span><br /> -
|
|
Neck muscle weakness <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240479&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240479</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000467" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000467</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000467" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000467</a>]</span><br /> -
|
|
Trunk muscle weakness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249937002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249937002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241492&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241492</a>]</span><br /> -
|
|
Velopharyngeal muscle weakness <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837324&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837324</a>]</span><br /> -
|
|
Muscle biopsy shows dystrophic changes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864711&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864711</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003560" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003560</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003560" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003560</a>]</span><br /> -
|
|
Fiber size variation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837325&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837325</a>]</span><br /> -
|
|
Fiber splitting <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836057&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836057</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003555" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003555</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003555" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003555</a>]</span><br /> -
|
|
Accumulation of intrasarcoplasmic granulofilamentous aggregates that are immunoreactive to desmin and alpha-beta-crystallin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837326&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837326</a>]</span><br /> -
|
|
Autophagic vacuoles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0544966&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0544966</a>, <a href="https://bioportal.bioontology.org/search?q=C3887595&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3887595</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003736" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003736</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003736" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003736</a>]</span><br /> -
|
|
Z-disks with abnormal homogeneous material <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837327&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837327</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
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|
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<div>
|
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<span class="mim-font">
|
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|
|
- Increased serum creatine kinase <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241005&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241005</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003236" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003236</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003236" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003236</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> MISCELLANEOUS </strong>
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</span>
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</div>
|
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Adult onset <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853562&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853562</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003581" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003581</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003581" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003581</a>]</span><br /> -
|
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Slowly progressive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854494&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854494</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003677</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003677</a>]</span><br /> -
|
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Clinical variability<br /> -
|
|
Two patients without cardiomyopathy or cataracts have been reported<br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<strong> MOLECULAR BASIS </strong>
|
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</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
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|
|
- Caused by mutation in the alpha-B-crystallin gene (CRYAB, <a href="/entry/123590#0001">123590.0001</a>)<br />
|
|
|
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</span>
|
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</div>
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</div>
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</div>
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<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
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|
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<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Myopathy, myofibrillar
|
|
- <a href="/phenotypicSeries/PS601419">PS601419</a>
|
|
- 14 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/2/823?start=-3&limit=10&highlight=823"> 2q31.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603689"> Myopathy, myofibrillar, 9, with early respiratory failure </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/603689"> 603689 </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/2/1040?start=-3&limit=10&highlight=1040"> 2q35 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601419"> Myopathy, myofibrillar, 1 </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/601419"> 601419 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/125660"> DES </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/125660"> 125660 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/702?start=-3&limit=10&highlight=702"> 3q22.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617114"> Myopathy, myofibrillar, 7 </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/617114"> 617114 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605739"> KY </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605739"> 605739 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/497?start=-3&limit=10&highlight=497"> 5q31.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609200"> Myopathy, myofibrillar, 3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609200"> 609200 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604103"> MYOT </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604103"> 604103 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/659?start=-3&limit=10&highlight=659"> 7q32.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
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<a href="/entry/609524"> Myopathy, myofibrillar, 5 </a>
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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 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 class="mim-font">
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<a href="/entry/609524"> 609524 </a>
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<span class="mim-font">
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<a href="/entry/102565"> FLNC </a>
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<span class="mim-font">
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<a href="/entry/102565"> 102565 </a>
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<a href="/geneMap/10/129?start=-3&limit=10&highlight=129"> 10p11.23 </a>
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<span class="mim-font">
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<a href="/entry/619040"> Myofibrillar myopathy 10 </a>
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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 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 class="mim-font">
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<a href="/entry/619040"> 619040 </a>
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<span class="mim-font">
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<a href="/entry/604126"> SVIL </a>
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<span class="mim-font">
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<a href="/entry/604126"> 604126 </a>
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<span class="mim-font">
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<a href="/geneMap/10/355?start=-3&limit=10&highlight=355"> 10q23.2 </a>
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/609452"> Myopathy, myofibrillar, 4 </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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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<td>
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<span class="mim-font">
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<a href="/entry/609452"> 609452 </a>
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<span class="mim-font">
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<a href="/entry/605906"> LDB3 </a>
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<span class="mim-font">
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<a href="/entry/605906"> 605906 </a>
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<span class="mim-font">
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<a href="/geneMap/10/613?start=-3&limit=10&highlight=613"> 10q26.11 </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/612954"> Myopathy, myofibrillar, 6 </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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</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 class="mim-font">
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<a href="/entry/612954"> 612954 </a>
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<span class="mim-font">
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<a href="/entry/603883"> BAG3 </a>
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<span class="mim-font">
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<a href="/entry/603883"> 603883 </a>
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<span class="mim-font">
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<a href="/geneMap/11/925?start=-3&limit=10&highlight=925"> 11q23.1 </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/613869"> Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/613869"> 613869 </a>
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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/123590"> CRYAB </a>
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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/123590"> 123590 </a>
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</span>
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<td>
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<span class="mim-font">
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<a href="/geneMap/11/925?start=-3&limit=10&highlight=925"> 11q23.1 </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/608810"> Myopathy, myofibrillar, 2 </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/608810"> 608810 </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/123590"> CRYAB </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/123590"> 123590 </a>
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<td>
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<span class="mim-font">
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<a href="/geneMap/12/223?start=-3&limit=10&highlight=223"> 12p12.1 </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/617258"> Myopathy, myofibrillar, 8 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/617258"> 617258 </a>
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/617220"> PYROXD1 </a>
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/617220"> 617220 </a>
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</span>
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<td>
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<span class="mim-font">
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<a href="/geneMap/12/809?start=-3&limit=10&highlight=809"> 12q24.11 </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/619424"> Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/619424"> 619424 </a>
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</span>
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</td>
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<span class="mim-font">
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<a href="/entry/160781"> MYL2 </a>
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/160781"> 160781 </a>
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</span>
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<span class="mim-font">
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<a href="/geneMap/12/858?start=-3&limit=10&highlight=858"> 12q24.23 </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/621078"> Myopathy, myofibrillar, 13, with rimmed vacuoles </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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<span class="mim-font">
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<a href="/entry/621078"> 621078 </a>
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/608014"> HSPB8 </a>
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</span>
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<span class="mim-font">
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<a href="/entry/608014"> 608014 </a>
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</span>
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<td>
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<span class="mim-font">
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<a href="/geneMap/17/417?start=-3&limit=10&highlight=417"> 17q12 </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/619178"> Myofibrillar myopathy 11 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/619178"> 619178 </a>
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<span class="mim-font">
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<a href="/entry/611220"> UNC45B </a>
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<span class="mim-font">
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<a href="/entry/611220"> 611220 </a>
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</tbody>
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</table>
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<div class="text-right small">
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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<br />
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because myofibrillar myopathy-2 (MFM2) is caused by heterozygous mutation in the alpha-B-crystallin gene (CRYAB; <a href="/entry/123590">123590</a>) on chromosome 11q23.</p>
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<br />
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<div>
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<a id="description" class="mim-anchor"></a>
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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<div class="mim-changed mim-change"><p>Myofibrillar myopathy-2 (MFM2) is an autosomal dominant muscular disorder characterized by adult onset of progressive muscle weakness affecting both the proximal and distal muscles and associated with respiratory insufficiency, cardiomyopathy, and cataracts. There is phenotypic variability both within and between families (<a href="#1" class="mim-tip-reference" title="Fardeau, M., Godet-Guillain, J., Tome, F. M., Collin, H., Gardeau, S., Boffety, C., Vernant, P. <strong>Une nouvelle affection musculaire familiale, definie par l'accumulation intra-sarco-plasmique d'un materiel granulo-filamentaire dense en microscopie electronique.</strong> Rev. Neurol. 134: 411-425, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/570292/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">570292</a>]" pmid="570292">Fardeau et al., 1978</a>; <a href="#3" class="mim-tip-reference" title="Selcen, D., Engel, A. G. <strong>Myofibrillar myopathy caused by novel dominant negative alpha-B-crystallin mutations.</strong> Ann. Neurol. 54: 804-810, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14681890/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14681890</a>] [<a href="https://doi.org/10.1002/ana.10767" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14681890">Selcen and Engel, 2003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14681890+570292" 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></div>
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<p>A homozygous founder mutation in the CRYAB gene has been identified in Canadian aboriginal infants of Cree origin who have a severe fatal infantile hypertonic form of myofibrillar myopathy; see <a href="/entry/613869">613869</a>.</p>
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<p>For a phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (<a href="/entry/601419">601419</a>).</p>
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<strong>Clinical Features</strong>
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<p><a href="#1" class="mim-tip-reference" title="Fardeau, M., Godet-Guillain, J., Tome, F. M., Collin, H., Gardeau, S., Boffety, C., Vernant, P. <strong>Une nouvelle affection musculaire familiale, definie par l'accumulation intra-sarco-plasmique d'un materiel granulo-filamentaire dense en microscopie electronique.</strong> Rev. Neurol. 134: 411-425, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/570292/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">570292</a>]" pmid="570292">Fardeau et al. (1978)</a> described an autosomal dominant muscle disorder with involvement of skeletal and velopharyngeal muscles, associated with hypertrophic cardiomyopathy, respiratory disturbances, and lens opacities. The proband had a history of mild muscle weakness and easy fatigability with dyspnea in childhood. At age 33 years, he was diagnosed with hypertrophic cardiomyopathy. The muscle weakness progressed during adulthood, primarily affecting proximal muscles of the upper and lower limbs. His father died at age 49 years following cataract surgery, and reportedly had progressive muscle weakness and recurrent falls. The proband's paternal uncle and paternal grandfather had a similar disorder, with onset in young adulthood. All affected individuals had a nasal voice, presumably from velopharyngeal muscle weakness, respiratory difficulties, cataracts, and cardiac involvement. A first cousin of the proband's father, who was also examined, showed a similar disorder, with the addition of distal muscle weakness and atrophy; his cardiac examination showed incomplete right heart block. None of the affected individuals had facial muscle involvement. EMG studies showed neither spontaneous activity nor myotonic discharges. Muscle biopsy of 2 patients showed dystrophic findings with 'rubbing out' of the intermyofibrillar network along with split fibers. Electron microscopy showed an intrasarcoplasmic accumulation of an electron-dense granulofilamentous material. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=570292" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Vicart, P., Dupret, J.-M., Hazan, J., Li, Z., Gyapay, G., Krishnamoorthy, R., Weissenbach, J., Fardeau, M., Paulin, D. <strong>Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy.</strong> Hum. Genet. 98: 422-429, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8792816/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8792816</a>] [<a href="https://doi.org/10.1007/s004390050233" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8792816">Vicart et al. (1996)</a> studied 28 members from 3 families with desmin-related myopathy, 1 of whom had been reported by <a href="#1" class="mim-tip-reference" title="Fardeau, M., Godet-Guillain, J., Tome, F. M., Collin, H., Gardeau, S., Boffety, C., Vernant, P. <strong>Une nouvelle affection musculaire familiale, definie par l'accumulation intra-sarco-plasmique d'un materiel granulo-filamentaire dense en microscopie electronique.</strong> Rev. Neurol. 134: 411-425, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/570292/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">570292</a>]" pmid="570292">Fardeau et al. (1978)</a>. Sixteen affected members fulfilled the diagnostic criteria of <a href="#1" class="mim-tip-reference" title="Fardeau, M., Godet-Guillain, J., Tome, F. M., Collin, H., Gardeau, S., Boffety, C., Vernant, P. <strong>Une nouvelle affection musculaire familiale, definie par l'accumulation intra-sarco-plasmique d'un materiel granulo-filamentaire dense en microscopie electronique.</strong> Rev. Neurol. 134: 411-425, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/570292/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">570292</a>]" pmid="570292">Fardeau et al. (1978)</a>, which included proximal and distal limb muscle weakness often associated with neck, trunk, and velopharynx muscle involvement, signs of cardiomyopathy, presence of numerous desmin-reactive aggregates in the muscle fibers, and intrasarcoplasmic accumulation of dense granulofilamentous material on electron microscopy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8792816+570292" 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="Vicart, P., Caron, A., Guicheney, P., Li, Z., Prevost, M.-C., Faure, A., Chateau, D., Chapon, F., Tome, F., Dupret, J.-M., Paulin, D., Fardeau, M. <strong>A missense mutation in the alpha-B-crystallin chaperone gene causes a desmin-related myopathy.</strong> Nature Genet. 20: 92-95, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9731540/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9731540</a>] [<a href="https://doi.org/10.1038/1765" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9731540">Vicart et al. (1998)</a> studied 9 affected members of the family originally described by <a href="#1" class="mim-tip-reference" title="Fardeau, M., Godet-Guillain, J., Tome, F. M., Collin, H., Gardeau, S., Boffety, C., Vernant, P. <strong>Une nouvelle affection musculaire familiale, definie par l'accumulation intra-sarco-plasmique d'un materiel granulo-filamentaire dense en microscopie electronique.</strong> Rev. Neurol. 134: 411-425, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/570292/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">570292</a>]" pmid="570292">Fardeau et al. (1978)</a>, all of whom had similar clinical features with different degrees of severity. They showed symmetric, nonselective proximal and distal weakness in lower and upper limbs with velopharyngeal involvement, clinical and/or electrocardiographic signs of hypertrophic cardiomyopathy, and discrete lens opacities. Serum creatine kinase levels were moderately elevated and electromyogram showed a myopathic pattern of abnormalities. Light microscopy of muscle biopsies from all 9 affected individuals showed similar histologic features, consisting specifically of 'rubbing out' areas of the intermyofibrillar network in type I fibers on oxidative staining. Electron microscopy revealed subsarcolemmal and intermyofibrillar accumulation of dense granulofilamentous material with various degenerative changes in all biopsies. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=570292+9731540" 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="Sacconi, S., Feasson, L., Antoine, J. C., Pecheux, C., Bernard, R., Cobo, A. M., Casarin, A., Salviati, L., Desnuelle, C., Urtizberea, A. <strong>A novel CRYAB mutation resulting in multisystemic disease.</strong> Neuromusc. Disord. 22: 66-72, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21920752/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21920752</a>] [<a href="https://doi.org/10.1016/j.nmd.2011.07.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21920752">Sacconi et al. (2012)</a> reported a family of North African origin in which 5 members over 2 generations presented a syndrome characterized by myofibrillar myopathy, posterior polar cataracts, and dilated cardiomyopathy. Mean age of onset was 40 years. All patients presented with distal lower leg weakness, dysphagia, and dysphonia as initial complaints. Involvement of respiratory muscles was not present at the time of diagnosis, but became evident during follow-up. Posterior polar cataracts were detected in the 4 patients who underwent comprehensive ophthalmologic examination, and 2 affected individuals also had dilated cardiomyopathy on echocardiography. Patient muscle biopsies showed significant variation in muscle fiber diameter, ranging from 40 to 80 micrometers. In addition, there were atrophic fibers, an increased number of internalized nuclei, fiber splitting, core-like lesions, and 'rubbed out' fibers, with some of the latter containing aggregates visible in HE staining. Electron microscopy showed abnormal material in some areas surrounding irregularly oriented bundles of thick filaments in so-called 'sandwich' formations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21920752" 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>Clinical Variability</em></strong></p><p>
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<a href="#3" class="mim-tip-reference" title="Selcen, D., Engel, A. G. <strong>Myofibrillar myopathy caused by novel dominant negative alpha-B-crystallin mutations.</strong> Ann. Neurol. 54: 804-810, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14681890/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14681890</a>] [<a href="https://doi.org/10.1002/ana.10767" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14681890">Selcen and Engel (2003)</a> reported 2 unrelated patients with desmin-related myopathy, which they termed 'myofibrillar myopathy.' The first patient was a 52-year-old man who presented with ventilatory insufficiency associated with paresis of the diaphragm and weakness of cervical, shoulder girdle, and pelvic girdle muscles. He was also found to have scleroderma (see <a href="/entry/181750">181750</a>). The second patient, a 53-year-old man, had slowly progressive leg weakness and atrophy and absent ankle reflexes. EMG and muscle biopsy were consistent with a myopathy. Seventy-five percent of abnormal muscle fiber regions reacted with desmin and alpha-B-crystallin. Ultrastructural analysis showed abnormal expanses of homogeneous material and myofibrillar disintegration involving the Z discs. Small autophagic vacuoles were also present. Unlike the patients reported by <a href="#5" class="mim-tip-reference" title="Vicart, P., Dupret, J.-M., Hazan, J., Li, Z., Gyapay, G., Krishnamoorthy, R., Weissenbach, J., Fardeau, M., Paulin, D. <strong>Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy.</strong> Hum. Genet. 98: 422-429, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8792816/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8792816</a>] [<a href="https://doi.org/10.1007/s004390050233" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8792816">Vicart et al. (1996)</a>, neither of the patients reported by <a href="#3" class="mim-tip-reference" title="Selcen, D., Engel, A. G. <strong>Myofibrillar myopathy caused by novel dominant negative alpha-B-crystallin mutations.</strong> Ann. Neurol. 54: 804-810, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14681890/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14681890</a>] [<a href="https://doi.org/10.1002/ana.10767" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14681890">Selcen and Engel (2003)</a> had cardiomyopathy or cataracts. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14681890+8792816" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of MFM2 in the family reported by <a href="#1" class="mim-tip-reference" title="Fardeau, M., Godet-Guillain, J., Tome, F. M., Collin, H., Gardeau, S., Boffety, C., Vernant, P. <strong>Une nouvelle affection musculaire familiale, definie par l'accumulation intra-sarco-plasmique d'un materiel granulo-filamentaire dense en microscopie electronique.</strong> Rev. Neurol. 134: 411-425, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/570292/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">570292</a>]" pmid="570292">Fardeau et al. (1978)</a> and <a href="#4" class="mim-tip-reference" title="Vicart, P., Caron, A., Guicheney, P., Li, Z., Prevost, M.-C., Faure, A., Chateau, D., Chapon, F., Tome, F., Dupret, J.-M., Paulin, D., Fardeau, M. <strong>A missense mutation in the alpha-B-crystallin chaperone gene causes a desmin-related myopathy.</strong> Nature Genet. 20: 92-95, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9731540/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9731540</a>] [<a href="https://doi.org/10.1038/1765" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9731540">Vicart et al. (1998)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9731540+570292" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 3 families with MFM, <a href="#5" class="mim-tip-reference" title="Vicart, P., Dupret, J.-M., Hazan, J., Li, Z., Gyapay, G., Krishnamoorthy, R., Weissenbach, J., Fardeau, M., Paulin, D. <strong>Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy.</strong> Hum. Genet. 98: 422-429, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8792816/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8792816</a>] [<a href="https://doi.org/10.1007/s004390050233" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8792816">Vicart et al. (1996)</a> used linkage analysis to exclude the desmin gene as the disease defect. By genomewide screening performed on the family with DRM reported by <a href="#1" class="mim-tip-reference" title="Fardeau, M., Godet-Guillain, J., Tome, F. M., Collin, H., Gardeau, S., Boffety, C., Vernant, P. <strong>Une nouvelle affection musculaire familiale, definie par l'accumulation intra-sarco-plasmique d'un materiel granulo-filamentaire dense en microscopie electronique.</strong> Rev. Neurol. 134: 411-425, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/570292/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">570292</a>]" pmid="570292">Fardeau et al. (1978)</a>, <a href="#4" class="mim-tip-reference" title="Vicart, P., Caron, A., Guicheney, P., Li, Z., Prevost, M.-C., Faure, A., Chateau, D., Chapon, F., Tome, F., Dupret, J.-M., Paulin, D., Fardeau, M. <strong>A missense mutation in the alpha-B-crystallin chaperone gene causes a desmin-related myopathy.</strong> Nature Genet. 20: 92-95, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9731540/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9731540</a>] [<a href="https://doi.org/10.1038/1765" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9731540">Vicart et al. (1998)</a> found linkage to a 26-cM interval between D11S917 and D11S925 on chromosome 11q21-q23 (maximum 2-point lod score of 3.38 at marker D11S4090). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9731540+8792816+570292" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members from the family reported by <a href="#1" class="mim-tip-reference" title="Fardeau, M., Godet-Guillain, J., Tome, F. M., Collin, H., Gardeau, S., Boffety, C., Vernant, P. <strong>Une nouvelle affection musculaire familiale, definie par l'accumulation intra-sarco-plasmique d'un materiel granulo-filamentaire dense en microscopie electronique.</strong> Rev. Neurol. 134: 411-425, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/570292/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">570292</a>]" pmid="570292">Fardeau et al. (1978)</a>, <a href="#4" class="mim-tip-reference" title="Vicart, P., Caron, A., Guicheney, P., Li, Z., Prevost, M.-C., Faure, A., Chateau, D., Chapon, F., Tome, F., Dupret, J.-M., Paulin, D., Fardeau, M. <strong>A missense mutation in the alpha-B-crystallin chaperone gene causes a desmin-related myopathy.</strong> Nature Genet. 20: 92-95, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9731540/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9731540</a>] [<a href="https://doi.org/10.1038/1765" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9731540">Vicart et al. (1998)</a> identified a heterozygous mutation in the CRYAB gene (<a href="/entry/123590#0001">123590.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9731540+570292" 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 adult patients with myofibrillar myopathy, <a href="#3" class="mim-tip-reference" title="Selcen, D., Engel, A. G. <strong>Myofibrillar myopathy caused by novel dominant negative alpha-B-crystallin mutations.</strong> Ann. Neurol. 54: 804-810, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14681890/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14681890</a>] [<a href="https://doi.org/10.1002/ana.10767" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14681890">Selcen and Engel (2003)</a> identified truncating mutations in the CRYAB gene (<a href="/entry/123590#0003">123590.0003</a>-<a href="/entry/123590#0004">123590.0004</a>). The authors noted the phenotypic variability and suggested a dominant-negative effect of the mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14681890" 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 all affected members of a family of North African origin with myofibrillar myopathy, posterior polar cataract, and dilated cardiomyopathy, <a href="#2" class="mim-tip-reference" title="Sacconi, S., Feasson, L., Antoine, J. C., Pecheux, C., Bernard, R., Cobo, A. M., Casarin, A., Salviati, L., Desnuelle, C., Urtizberea, A. <strong>A novel CRYAB mutation resulting in multisystemic disease.</strong> Neuromusc. Disord. 22: 66-72, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21920752/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21920752</a>] [<a href="https://doi.org/10.1016/j.nmd.2011.07.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21920752">Sacconi et al. (2012)</a> identified heterozygosity for a missense mutation in the CRYAB gene (D109H: <a href="/entry/123590#0011">123590.0011</a>). The mutation was not found in unaffected family members or 50 ethnically matched controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21920752" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
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<a id="Fardeau1978" class="mim-anchor"></a>
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<div class="">
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Fardeau, M., Godet-Guillain, J., Tome, F. M., Collin, H., Gardeau, S., Boffety, C., Vernant, P.
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<strong>Une nouvelle affection musculaire familiale, definie par l'accumulation intra-sarco-plasmique d'un materiel granulo-filamentaire dense en microscopie electronique.</strong>
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Rev. Neurol. 134: 411-425, 1978.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/570292/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">570292</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=570292" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Sacconi2012" class="mim-anchor"></a>
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Sacconi, S., Feasson, L., Antoine, J. C., Pecheux, C., Bernard, R., Cobo, A. M., Casarin, A., Salviati, L., Desnuelle, C., Urtizberea, A.
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<strong>A novel CRYAB mutation resulting in multisystemic disease.</strong>
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Neuromusc. Disord. 22: 66-72, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21920752/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21920752</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21920752" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.nmd.2011.07.004" target="_blank">Full Text</a>]
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<a id="3" class="mim-anchor"></a>
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<a id="Selcen2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Selcen, D., Engel, A. G.
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<strong>Myofibrillar myopathy caused by novel dominant negative alpha-B-crystallin mutations.</strong>
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Ann. Neurol. 54: 804-810, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14681890/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14681890</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14681890" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ana.10767" target="_blank">Full Text</a>]
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<a id="4" class="mim-anchor"></a>
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<a id="Vicart1998" class="mim-anchor"></a>
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Vicart, P., Caron, A., Guicheney, P., Li, Z., Prevost, M.-C., Faure, A., Chateau, D., Chapon, F., Tome, F., Dupret, J.-M., Paulin, D., Fardeau, M.
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<strong>A missense mutation in the alpha-B-crystallin chaperone gene causes a desmin-related myopathy.</strong>
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Nature Genet. 20: 92-95, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9731540/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9731540</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9731540" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/1765" target="_blank">Full Text</a>]
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<a id="Vicart1996" class="mim-anchor"></a>
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Vicart, P., Dupret, J.-M., Hazan, J., Li, Z., Gyapay, G., Krishnamoorthy, R., Weissenbach, J., Fardeau, M., Paulin, D.
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<strong>Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy.</strong>
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Hum. Genet. 98: 422-429, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8792816/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8792816</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8792816" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s004390050233" target="_blank">Full Text</a>]
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 4/18/2013
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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Cassandra L. Kniffin : 7/21/2004
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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carol : 02/07/2025
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alopez : 12/04/2023<br>carol : 09/22/2015<br>carol : 8/21/2013<br>carol : 4/18/2013<br>terry : 6/3/2011<br>terry : 6/3/2011<br>wwang : 4/22/2011<br>wwang : 4/12/2011<br>ckniffin : 4/7/2011<br>terry : 7/30/2008<br>ckniffin : 8/9/2005<br>terry : 3/11/2005<br>tkritzer : 3/10/2005<br>carol : 7/23/2004<br>carol : 7/23/2004<br>ckniffin : 7/22/2004
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<strong>#</strong> 608810
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MYOPATHY, MYOFIBRILLAR, 2; MFM2
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MYOPATHY, MYOFIBRILLAR, ALPHA-B CRYSTALLIN-RELATED<br />
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MYOPATHY, DESMIN-RELATED, ASSOCIATED WITH MUTATION IN THE CRYAB GENE<br />
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ALPHA-B CRYSTALLINOPATHY<br />
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MYOPATHY, MYOFIBRILLAR, WITH OR WITHOUT CATARACT AND/OR CARDIOMYOPATHY
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<strong>ORPHA:</strong> 399058;
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<strong>DO:</strong> 0080093;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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11q23.1
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<span class="mim-font">
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Myopathy, myofibrillar, 2
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<span class="mim-font">
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608810
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<span class="mim-font">
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Autosomal dominant
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<span class="mim-font">
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3
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CRYAB
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<span class="mim-font">
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123590
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because myofibrillar myopathy-2 (MFM2) is caused by heterozygous mutation in the alpha-B-crystallin gene (CRYAB; 123590) on chromosome 11q23.</p>
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<strong>Description</strong>
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<p>Myofibrillar myopathy-2 (MFM2) is an autosomal dominant muscular disorder characterized by adult onset of progressive muscle weakness affecting both the proximal and distal muscles and associated with respiratory insufficiency, cardiomyopathy, and cataracts. There is phenotypic variability both within and between families (Fardeau et al., 1978; Selcen and Engel, 2003). </p><p>A homozygous founder mutation in the CRYAB gene has been identified in Canadian aboriginal infants of Cree origin who have a severe fatal infantile hypertonic form of myofibrillar myopathy; see 613869.</p><p>For a phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419).</p>
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<strong>Clinical Features</strong>
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<p>Fardeau et al. (1978) described an autosomal dominant muscle disorder with involvement of skeletal and velopharyngeal muscles, associated with hypertrophic cardiomyopathy, respiratory disturbances, and lens opacities. The proband had a history of mild muscle weakness and easy fatigability with dyspnea in childhood. At age 33 years, he was diagnosed with hypertrophic cardiomyopathy. The muscle weakness progressed during adulthood, primarily affecting proximal muscles of the upper and lower limbs. His father died at age 49 years following cataract surgery, and reportedly had progressive muscle weakness and recurrent falls. The proband's paternal uncle and paternal grandfather had a similar disorder, with onset in young adulthood. All affected individuals had a nasal voice, presumably from velopharyngeal muscle weakness, respiratory difficulties, cataracts, and cardiac involvement. A first cousin of the proband's father, who was also examined, showed a similar disorder, with the addition of distal muscle weakness and atrophy; his cardiac examination showed incomplete right heart block. None of the affected individuals had facial muscle involvement. EMG studies showed neither spontaneous activity nor myotonic discharges. Muscle biopsy of 2 patients showed dystrophic findings with 'rubbing out' of the intermyofibrillar network along with split fibers. Electron microscopy showed an intrasarcoplasmic accumulation of an electron-dense granulofilamentous material. </p><p>Vicart et al. (1996) studied 28 members from 3 families with desmin-related myopathy, 1 of whom had been reported by Fardeau et al. (1978). Sixteen affected members fulfilled the diagnostic criteria of Fardeau et al. (1978), which included proximal and distal limb muscle weakness often associated with neck, trunk, and velopharynx muscle involvement, signs of cardiomyopathy, presence of numerous desmin-reactive aggregates in the muscle fibers, and intrasarcoplasmic accumulation of dense granulofilamentous material on electron microscopy. </p><p>Vicart et al. (1998) studied 9 affected members of the family originally described by Fardeau et al. (1978), all of whom had similar clinical features with different degrees of severity. They showed symmetric, nonselective proximal and distal weakness in lower and upper limbs with velopharyngeal involvement, clinical and/or electrocardiographic signs of hypertrophic cardiomyopathy, and discrete lens opacities. Serum creatine kinase levels were moderately elevated and electromyogram showed a myopathic pattern of abnormalities. Light microscopy of muscle biopsies from all 9 affected individuals showed similar histologic features, consisting specifically of 'rubbing out' areas of the intermyofibrillar network in type I fibers on oxidative staining. Electron microscopy revealed subsarcolemmal and intermyofibrillar accumulation of dense granulofilamentous material with various degenerative changes in all biopsies. </p><p>Sacconi et al. (2012) reported a family of North African origin in which 5 members over 2 generations presented a syndrome characterized by myofibrillar myopathy, posterior polar cataracts, and dilated cardiomyopathy. Mean age of onset was 40 years. All patients presented with distal lower leg weakness, dysphagia, and dysphonia as initial complaints. Involvement of respiratory muscles was not present at the time of diagnosis, but became evident during follow-up. Posterior polar cataracts were detected in the 4 patients who underwent comprehensive ophthalmologic examination, and 2 affected individuals also had dilated cardiomyopathy on echocardiography. Patient muscle biopsies showed significant variation in muscle fiber diameter, ranging from 40 to 80 micrometers. In addition, there were atrophic fibers, an increased number of internalized nuclei, fiber splitting, core-like lesions, and 'rubbed out' fibers, with some of the latter containing aggregates visible in HE staining. Electron microscopy showed abnormal material in some areas surrounding irregularly oriented bundles of thick filaments in so-called 'sandwich' formations. </p><p><strong><em>Clinical Variability</em></strong></p><p>
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Selcen and Engel (2003) reported 2 unrelated patients with desmin-related myopathy, which they termed 'myofibrillar myopathy.' The first patient was a 52-year-old man who presented with ventilatory insufficiency associated with paresis of the diaphragm and weakness of cervical, shoulder girdle, and pelvic girdle muscles. He was also found to have scleroderma (see 181750). The second patient, a 53-year-old man, had slowly progressive leg weakness and atrophy and absent ankle reflexes. EMG and muscle biopsy were consistent with a myopathy. Seventy-five percent of abnormal muscle fiber regions reacted with desmin and alpha-B-crystallin. Ultrastructural analysis showed abnormal expanses of homogeneous material and myofibrillar disintegration involving the Z discs. Small autophagic vacuoles were also present. Unlike the patients reported by Vicart et al. (1996), neither of the patients reported by Selcen and Engel (2003) had cardiomyopathy or cataracts. </p>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The transmission pattern of MFM2 in the family reported by Fardeau et al. (1978) and Vicart et al. (1998) was consistent with autosomal dominant inheritance. </p>
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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>Mapping</strong>
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</span>
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</h4>
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</div>
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<p>In 3 families with MFM, Vicart et al. (1996) used linkage analysis to exclude the desmin gene as the disease defect. By genomewide screening performed on the family with DRM reported by Fardeau et al. (1978), Vicart et al. (1998) found linkage to a 26-cM interval between D11S917 and D11S925 on chromosome 11q21-q23 (maximum 2-point lod score of 3.38 at marker D11S4090). </p>
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<strong>Molecular Genetics</strong>
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<p>In affected members from the family reported by Fardeau et al. (1978), Vicart et al. (1998) identified a heterozygous mutation in the CRYAB gene (123590.0001). </p><p>In 2 adult patients with myofibrillar myopathy, Selcen and Engel (2003) identified truncating mutations in the CRYAB gene (123590.0003-123590.0004). The authors noted the phenotypic variability and suggested a dominant-negative effect of the mutations. </p><p>In all affected members of a family of North African origin with myofibrillar myopathy, posterior polar cataract, and dilated cardiomyopathy, Sacconi et al. (2012) identified heterozygosity for a missense mutation in the CRYAB gene (D109H: 123590.0011). The mutation was not found in unaffected family members or 50 ethnically matched controls. </p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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Fardeau, M., Godet-Guillain, J., Tome, F. M., Collin, H., Gardeau, S., Boffety, C., Vernant, P.
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<strong>Une nouvelle affection musculaire familiale, definie par l'accumulation intra-sarco-plasmique d'un materiel granulo-filamentaire dense en microscopie electronique.</strong>
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Rev. Neurol. 134: 411-425, 1978.
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[PubMed: 570292]
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</p>
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Sacconi, S., Feasson, L., Antoine, J. C., Pecheux, C., Bernard, R., Cobo, A. M., Casarin, A., Salviati, L., Desnuelle, C., Urtizberea, A.
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<strong>A novel CRYAB mutation resulting in multisystemic disease.</strong>
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Neuromusc. Disord. 22: 66-72, 2012.
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[PubMed: 21920752]
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[Full Text: https://doi.org/10.1016/j.nmd.2011.07.004]
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<li>
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<p class="mim-text-font">
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Selcen, D., Engel, A. G.
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<strong>Myofibrillar myopathy caused by novel dominant negative alpha-B-crystallin mutations.</strong>
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Ann. Neurol. 54: 804-810, 2003.
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[PubMed: 14681890]
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[Full Text: https://doi.org/10.1002/ana.10767]
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<li>
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<p class="mim-text-font">
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Vicart, P., Caron, A., Guicheney, P., Li, Z., Prevost, M.-C., Faure, A., Chateau, D., Chapon, F., Tome, F., Dupret, J.-M., Paulin, D., Fardeau, M.
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<strong>A missense mutation in the alpha-B-crystallin chaperone gene causes a desmin-related myopathy.</strong>
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Nature Genet. 20: 92-95, 1998.
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[PubMed: 9731540]
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[Full Text: https://doi.org/10.1038/1765]
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</p>
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<p class="mim-text-font">
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Vicart, P., Dupret, J.-M., Hazan, J., Li, Z., Gyapay, G., Krishnamoorthy, R., Weissenbach, J., Fardeau, M., Paulin, D.
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<strong>Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy.</strong>
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Hum. Genet. 98: 422-429, 1996.
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[PubMed: 8792816]
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[Full Text: https://doi.org/10.1007/s004390050233]
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Marla J. F. O'Neill - updated : 4/18/2013
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