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Entry
- #612954 - MYOPATHY, MYOFIBRILLAR, 6; MFM6
- OMIM
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<span class="h4">#612954</span>
<br />
<strong>Table of Contents</strong>
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<li role="presentation">
<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
<a href="/clinicalSynopsis/612954"><strong>Clinical Synopsis</strong></a>
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<li role="presentation">
<a href="/phenotypicSeries/PS601419"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#clinicalFeatures">Clinical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#animalModel">Animal Model</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(MYOPATHY, MYOFIBRILLAR) OR (BAG3)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=18405&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 style="display: table-cell;">Animal Models</div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0080097" 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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<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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<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">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>ORPHA:</strong> 199340<br />
<strong>DO:</strong> 0080097<br />
">ICD+</a>
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<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
612954
</span>
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<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
MYOPATHY, MYOFIBRILLAR, 6; MFM6
</span>
</h3>
</div>
<div>
<br />
</div>
</div>
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<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
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</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/10/613?start=-3&limit=10&highlight=613">
10q26.11
</a>
</span>
</td>
<td>
<span class="mim-font">
Myopathy, myofibrillar, 6
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612954"> 612954 </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">
BAG3
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603883"> 603883 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
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<a href="/clinicalSynopsis/612954" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<a href="/phenotypicSeries/PS601419" class="btn btn-info" role="button"> Phenotypic Series </a>
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PheneGene Graphics <span class="caret"></span>
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<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/612954" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/612954" 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> Face </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Facial weakness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95666008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95666008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R29.810" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R29.810</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.83" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.83</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/781.94" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">781.94</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0427055&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0427055</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007209" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007209</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0030319" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030319</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030319" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030319</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Neck </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Neck weakness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249931001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249931001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0427054&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0427054</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, restrictive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/415295002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">415295002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/90828009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">90828009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I42.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I42.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0007196&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007196</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001723" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001723</a>]</span><br />
- 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 />
<div class="mim-changed mim-change"> - Cardiac failure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/84114007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">84114007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42343007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42343007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I50</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I50.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I50.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/428.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">428.0</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/428" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">428</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/428.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">428.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018802&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018802</a>, <a href="https://bioportal.bioontology.org/search?q=C0018801&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018801</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001635" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001635</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001635" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001635</a>]</span><br /></div>
<div class="mim-changed mim-change"> - Heart transplantation (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32413006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32413006</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/37.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">37.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018823&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018823</a>]</span><br /></div>
<div class="mim-changed mim-change"> - EKG abnormalities <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/102594003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">102594003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0522055&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0522055</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003115" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003115</a>]</span><br /></div>
</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 <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/409622000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">409622000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/409623005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">409623005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/J96.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">J96.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1145670&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1145670</a>, <a href="https://bioportal.bioontology.org/search?q=C0035229&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035229</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002878" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002878</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0002093" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002093</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002093" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002093</a>]</span><br />
- Reduced forced vital capacity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1846678&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1846678</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0032341" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0032341</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0032341" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0032341</a>]</span><br />
<div class="mim-changed mim-change"> - Artificial ventilation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/40617009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">40617009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035205&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035205</a>]</span><br /></div>
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> CHEST </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Ribs Sternum Clavicles & Scapulae </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
<div class="mim-changed mim-change"> - Scapular winging <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/17211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">17211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240953&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240953</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003691" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003691</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003691" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003691</a>]</span><br /></div>
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Diaphragm </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Diaphragmatic paralysis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64228003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64228003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/J98.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">J98.6</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551685&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551685</a>, <a href="https://bioportal.bioontology.org/search?q=C0035232&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035232</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002203" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002203</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0006597" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006597</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006597" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006597</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Spine </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Scoliosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298382003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298382003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20944008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20944008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111266001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111266001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0559260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0559260</a>, <a href="https://bioportal.bioontology.org/search?q=C0036439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036439</a>, <a href="https://bioportal.bioontology.org/search?q=C0700208&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700208</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span><br /> -
Rigid spine <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1858025&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858025</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003306" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003306</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003306" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003306</a>]</span><br /> -
Stiff spine <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2751837&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2751837</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Limbs </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Contractures of the knees and ankles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844514&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844514</a>]</span><br /> -
Valgus ankle deformity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868564&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868564</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Feet </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Pes cavus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205091006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205091006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/36755004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">36755004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86900005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86900005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/736.73" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">736.73</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/754.71" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.71</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0728829&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0728829</a>, <a href="https://bioportal.bioontology.org/search?q=C0039273&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039273</a>, <a href="https://bioportal.bioontology.org/search?q=C2239098&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2239098</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001761" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001761</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001761" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001761</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=2ad12e53b20f47e5685234fa29da6610" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Pes_Cavus-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=2ad12e53b20f47e5685234fa29da6610&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MUSCLE, SOFT TISSUES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Muscle weakness, severe, diffuse <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2751834&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2751834</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26544005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26544005</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001324" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001324</a>]</span><br />
- Muscle atrophy, diffuse <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1389113&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1389113</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003700" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003700</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003700" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003700</a>]</span><br />
<div class="mim-changed mim-change"> - Proximal muscles affected<br /></div>
<div class="mim-changed mim-change"> - Generalized myopathy<br /></div>
- Easy fatigability <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837098&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837098</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003388" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003388</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003388" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003388</a>]</span><br />
<div class="mim-changed mim-change"> - Fatty replacement of affected muscles in lower limbs seen on MRI<br /></div>
<div class="mim-changed mim-change"> - Dystrophic changes seen on skeletal muscle biopsy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3277016&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3277016</a>]</span><br /></div>
- Necrotic fibers <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836058&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836058</a>]</span><br />
- Internal nuclei <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836163&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836163</a>]</span><br />
- Variation in fiber size <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 />
- Apoptotic nuclei <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2751835&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2751835</a>]</span><br />
- Myofibrillar myopathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/699269005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">699269005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2678065&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2678065</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003715" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003715</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003715" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003715</a>]</span><br />
<div class="mim-changed mim-change"> - Rimmed vacuoles <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/40236008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">40236008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853932&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853932</a>, <a href="https://bioportal.bioontology.org/search?q=C0333773&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0333773</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003805" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003805</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003805" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003805</a>]</span><br /></div>
- Sarcoplasmic accumulation of electron-dense granulofilamentous material <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3552622&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3552622</a>]</span><br />
- Myopathic and neurogenic changes seen on EMG <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4013685&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4013685</a>]</span><br />
- Z-disk streaming <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2751836&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2751836</a>]</span><br />
- Z-disk degeneration <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836165&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836165</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Central Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Toe-walking in early childhood <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2751832&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2751832</a>]</span><br /> -
Clumsy gait <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842201&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842201</a>]</span><br /> -
Loss of ambulation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836843&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836843</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002505" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002505</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002505" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002505</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Peripheral Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
<div class="mim-changed mim-change"> - Axonal and demyelinating peripheral neuropathy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2677557&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2677557</a>]</span><br /> -
Chronic denervation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4013684&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4013684</a>]</span><br /> -
Distal sensory impairment <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1847584&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1847584</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002936" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002936</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002936" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002936</a>]</span><br /> -
Hyporeflexia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/835279003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">835279003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405946002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405946002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0700078&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700078</a>, <a href="https://bioportal.bioontology.org/search?q=C0151888&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151888</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001265" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001265</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001315" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001315</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001265" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001265</a>]</span><br /> -
Areflexia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/37280007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">37280007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234146&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234146</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001284" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001284</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001284" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001284</a>]</span><br /> -
Giant axonal neuropathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/128207002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">128207002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5200933&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5200933</a>]</span><br /> -
Axonal loss <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1832338&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1832338</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003447" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003447</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003447" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003447</a>]</span><br /> -
Thin myelin sheaths <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843178&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843178</a>]</span><br /></div>
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> VOICE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Hypernasal speech <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/229645001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">229645001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0454555&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0454555</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001611" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001611</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001611" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001611</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> LABORATORY ABNORMALITIES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Markedly increased serum creatine kinase <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2751838&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2751838</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 />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Onset in late childhood or early teens<br />
<div class="mim-changed mim-change"> - Death in the first decade often occurs<br /></div>
- De novo mutation (in most patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2985439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2985439</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Caused by mutation in the BCL2-associated athanogene 3 gene (BAG3, <a href="/entry/603883#0001">603883.0001</a>)<br />
</span>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
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/3/703?start=-3&limit=10&highlight=703"> 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">
<a href="/entry/609524"> Myopathy, myofibrillar, 5 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609524"> 609524 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102565"> FLNC </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102565"> 102565 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/129?start=-3&limit=10&highlight=129"> 10p11.23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619040"> Myofibrillar myopathy 10 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
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<span class="mim-font">
<a href="/entry/619040"> 619040 </a>
</span>
</td>
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<span class="mim-font">
<a href="/entry/604126"> SVIL </a>
</span>
</td>
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<span class="mim-font">
<a href="/entry/604126"> 604126 </a>
</span>
</td>
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<span class="mim-font">
<a href="/geneMap/10/355?start=-3&limit=10&highlight=355"> 10q23.2 </a>
</span>
</td>
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<span class="mim-font">
<a href="/entry/609452"> Myopathy, myofibrillar, 4 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
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<span class="mim-font">
<a href="/entry/609452"> 609452 </a>
</span>
</td>
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<span class="mim-font">
<a href="/entry/605906"> LDB3 </a>
</span>
</td>
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<span class="mim-font">
<a href="/entry/605906"> 605906 </a>
</span>
</td>
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<span class="mim-font">
<a href="/geneMap/10/613?start=-3&limit=10&highlight=613"> 10q26.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612954"> Myopathy, myofibrillar, 6 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
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<span class="mim-font">
<a href="/entry/612954"> 612954 </a>
</span>
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<span class="mim-font">
<a href="/entry/603883"> BAG3 </a>
</span>
</td>
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<span class="mim-font">
<a href="/entry/603883"> 603883 </a>
</span>
</td>
</tr>
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<span class="mim-font">
<a href="/geneMap/11/925?start=-3&limit=10&highlight=925"> 11q23.1 </a>
</span>
</td>
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<span class="mim-font">
<a href="/entry/608810"> Myopathy, myofibrillar, 2 </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>
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<span class="mim-font">
<a href="/entry/608810"> 608810 </a>
</span>
</td>
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<span class="mim-font">
<a href="/entry/123590"> CRYAB </a>
</span>
</td>
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<span class="mim-font">
<a href="/entry/123590"> 123590 </a>
</span>
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<span class="mim-font">
<a href="/geneMap/11/925?start=-3&limit=10&highlight=925"> 11q23.1 </a>
</span>
</td>
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<span class="mim-font">
<a href="/entry/613869"> Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
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<span class="mim-font">
<a href="/entry/613869"> 613869 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123590"> CRYAB </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123590"> 123590 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/223?start=-3&limit=10&highlight=223"> 12p12.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617258"> Myopathy, myofibrillar, 8 </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>
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<span class="mim-font">
<a href="/entry/617258"> 617258 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617220"> PYROXD1 </a>
</span>
</td>
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<span class="mim-font">
<a href="/entry/617220"> 617220 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/809?start=-3&limit=10&highlight=809"> 12q24.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619424"> Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
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<span class="mim-font">
<a href="/entry/619424"> 619424 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/160781"> MYL2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/160781"> 160781 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/858?start=-3&limit=10&highlight=858"> 12q24.23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/621078"> Myopathy, myofibrillar, 13, with rimmed vacuoles </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/621078"> 621078 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608014"> HSPB8 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608014"> 608014 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/417?start=-3&limit=10&highlight=417"> 17q12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619178"> Myofibrillar myopathy 11 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619178"> 619178 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611220"> UNC45B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611220"> 611220 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
<div class="text-right small">
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon &lt;span class='glyphicon glyphicon-plus-sign'&gt;&lt;/span&gt at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that myofibrillar myopathy-6 (MFM6) is caused by heterozygous mutation in the BAG3 gene (<a href="/entry/603883">603883</a>) on chromosome 10q26.</p>
<div class="mim-changed mim-change"><p>Heterozygous mutations in the BAG3 gene can also cause autosomal dominant distal hereditary motor neuronopathy-15 (HMND15; <a href="/entry/621094">621094</a>), axonal Charcot-Marie-Tooth disease 2JJ (CMT2JJ; <a href="/entry/621095">621095</a>), and dilated cardiomyopathy-1HH (CMD1HH; <a href="/entry/613881">613881</a>). These allelic disorders have overlapping features.</p></div>
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<a id="description" class="mim-anchor"></a>
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Description</strong>
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<div class="mim-changed mim-change"><p>Myofibrillar myopathy-6 (MFM6) is an autosomal dominant severe neuromuscular disorder characterized by onset in the first decade of progressive generalized and proximal muscle weakness, respiratory insufficiency, cardiomyopathy, and skeletal deformities related to muscle weakness. Most patients also have a motor or sensorimotor axonal peripheral neuropathy. Muscle biopsy shows fiber-type grouping, disruption of the Z lines, rimmed vacuoles, and filamentous inclusions, consistent with a myofibrillar myopathy. The disorder may cause severe disability by the second decade, leading to cardiac transplant, ventilation, and/or loss of ambulation (summary by <a href="#3" class="mim-tip-reference" title="Jaffer, F., Murphy, S. M., Scoto, M., Healy, E., Rossor, A. M., Brandner, S., Phadke, R., Selcen, D., Jungbluth, H., Muntoni, F., Reilly, M. M. &lt;strong&gt;BAG3 mutations: another cause of giant axonal neuropathy.&lt;/strong&gt; J. Peripher. Nerv. Syst. 17: 210-216, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22734908/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;22734908&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1529-8027.2012.00409.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="22734908">Jaffer et al., 2012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22734908" 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>
<p>For a phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy (MFM), see MFM1 (<a href="/entry/601419">601419</a>).</p>
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<div>
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<strong>Clinical Features</strong>
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<p><a href="#9" class="mim-tip-reference" title="Selcen, D., Muntoni, F., Burton, B. K., Pegoraro, E., Sewry, C., Bite, A. V., Engel, A. G. &lt;strong&gt;Mutation in BAG3 causes severe dominant childhood muscular dystrophy.&lt;/strong&gt; Ann. Neurol. 65: 83-89, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19085932/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19085932&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19085932[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ana.21553&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19085932">Selcen et al. (2009)</a> reported 3 unrelated children, 2 boys and a girl, with early-onset rapidly progressive myofibrillar myopathy. The first patients had been a toe walker since early childhood. In his early teens, he experienced a restrictive cardiomyopathy and received a heart transplant at age 13 years. Two years later, he had severe diffuse muscle weakness and atrophy, contractures at the knees and ankles, bilateral diaphragm paralysis, and respiratory insufficiency. The second patient presented at age 13 years with scoliosis, rigid spine, and easy fatigability. By the age of 14 years, she had restrictive respiratory insufficiency, and at age 15, she had hypernasal speech, and axial and progressively severe distal, more than proximal, muscle weakness. EMG conduction studies demonstrated myopathic motor unit potentials, and nerve conduction studies showed axonal and demyelinating peripheral neuropathy. EKG showed a hypertrophic cardiomyopathy. The third patient walked on his toes since toddler age. From 7 years of age, he had progressive leg weakness, fatigability, and a valgus ankle deformity. At the age of 11 years, he had moderate proximal muscle weakness, thoracic scoliosis, and a rigid spine predominantly affecting the cervical region. EKG showed a restrictive cardiomyopathy with trivial pulmonary and mitral regurgitation. His symptoms progressed rapidly, and by age 12, he had marked weakness of axial and proximal limb muscles, scapular winging, and reduced forced vital capacity. He died from respiratory insufficiency and a chest infection at age 13. <a href="#9" class="mim-tip-reference" title="Selcen, D., Muntoni, F., Burton, B. K., Pegoraro, E., Sewry, C., Bite, A. V., Engel, A. G. &lt;strong&gt;Mutation in BAG3 causes severe dominant childhood muscular dystrophy.&lt;/strong&gt; Ann. Neurol. 65: 83-89, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19085932/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19085932&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19085932[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ana.21553&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19085932">Selcen et al. (2009)</a> noted that serum creatine kinase was significantly increased in all 3 patients. Skeletal muscle biopsy showed dystrophic changes with fiber size variation, fiber splitting, necrotic fibers, internal nuclei, and structural alterations consisting of replacement of the normal myofibrillar markings by small, dense granules, or larger hyaline masses, or amorphous material. Numerous abnormal fibers displayed intense congophilia, consistent with the presence of beta-pleated sheets. The abnormal fibers displayed strong ectopic immunoreactivity for Bag3. Electron microscopy studies showed that minimally affected myofibers displayed Z disc streaming and accumulation of small pleomorphic dense structures between the myofibrils, More severely affected fibers had large lakes of small, pleomorphic, dense structures surrounded by myofibrillar remnants. Apoptotic nuclei were also observed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19085932" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
<p><a href="#7" class="mim-tip-reference" title="Odgerel, Z., Sarkozy, A., Lee, H.-S., McKenna, C., Rankin, J., Straub, V., Lochmuller, H., Paola, F., D&#x27;Amico, A., Bertini, E., Bushby, K., Goldfarb, L. G. &lt;strong&gt;Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation.&lt;/strong&gt; Neuromusc. Disord. 20: 438-442, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20605452/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20605452&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=20605452[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.nmd.2010.05.004&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20605452">Odgerel et al. (2010)</a> reported 4 patients from 3 unrelated families with MFM6. One of the patients was an Italian girl who had previously been reported by <a href="#8" class="mim-tip-reference" title="Sabatelli, M., Bertini, E., Ricci, E., Salviati, G., Magi, S., Papacci, M., Tonali, P. &lt;strong&gt;Peripheral neuropathy with giant axons and cardiomyopathy associated with desmin type intermediate filaments in skeletal muscle.&lt;/strong&gt; J. Neurol. Sci. 109: 1-10, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1517757/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1517757&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0022-510x(92)90086-z&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1517757">Sabatelli et al. (1992)</a>. Between ages 5 and 12 years, all developed a skeletal myopathy with severe generalized and proximal muscle weakness and atrophy and respiratory insufficiency, as well as cardiomyopathy. Muscle biopsy showed abnormal desmin (DES; <a href="/entry/125660">125660</a>)-positive inclusions and myofibrillar breakdown with loss of Z-line streaming. All patients also had peripheral neuropathy with axonal loss, thin myelin sheaths, and giant axons on nerve biopsy. Two patients underwent cardiac transplant in their teens and were ventilator-dependent; the other 2 patients died at ages 9 and 20 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20605452+1517757" 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="Lee, H. C., Cherk, S. W., Chan, S. K., Wong, S., Tong, T. W., Ho, W. S., Chan, A. Y., Lee, K. C., Mak, C. M. &lt;strong&gt;BAG3-related myofibrillar myopathy in a Chinese family.&lt;/strong&gt; Clin. Genet. 81: 394-398, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21361913/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21361913&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2011.01659.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21361913">Lee et al. (2012)</a> reported a Chinese girl with myofibrillar myopathy. At age 6 years, she developed difficulty walking due to proximal muscle weakness, although she remained ambulatory at age 12. Both upper and lower extremities were affected. She developed rapidly progressive contractures of the Achilles tendons and limited spine movement due to scoliosis. Other features included hypertrophic cardiomyopathy, prolonged QT interval, and mild restrictive lung disease. Nerve conduction studies and electromyography suggested a neurogenic axonal disease. Skeletal muscle biopsy showed atrophic fibers, focal myofibrillar disorganization, and type 1 fiber predominance. Electron microscopy showed sarcoplasmic accumulation of electron-dense granulofilamentous material and myofibrillar degeneration with minicores. Sural nerve biopsy showed axonopathy in some large myelinated fibers and occasional giant axons with thin myelin sheaths. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21361913" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
<p><a href="#3" class="mim-tip-reference" title="Jaffer, F., Murphy, S. M., Scoto, M., Healy, E., Rossor, A. M., Brandner, S., Phadke, R., Selcen, D., Jungbluth, H., Muntoni, F., Reilly, M. M. &lt;strong&gt;BAG3 mutations: another cause of giant axonal neuropathy.&lt;/strong&gt; J. Peripher. Nerv. Syst. 17: 210-216, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22734908/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;22734908&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1529-8027.2012.00409.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="22734908">Jaffer et al. (2012)</a> reported 5 patients with MFM6, including 1 boy previously described by <a href="#9" class="mim-tip-reference" title="Selcen, D., Muntoni, F., Burton, B. K., Pegoraro, E., Sewry, C., Bite, A. V., Engel, A. G. &lt;strong&gt;Mutation in BAG3 causes severe dominant childhood muscular dystrophy.&lt;/strong&gt; Ann. Neurol. 65: 83-89, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19085932/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19085932&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19085932[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ana.21553&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19085932">Selcen et al. (2009)</a> and 2 affected sisters. The patients had onset of rapidly progressive cardiomyopathy and generalized skeletal muscle weakness in late childhood or early adolescence. Patients showed toe walking due to steppage gait in early childhood, although early motor development was normal. There were skeletal abnormalities due to muscle weakness, such as large and small joint contractures, scoliosis, and pes cavus. Signs of a peripheral neuropathy included distal sensory impairment and hyporeflexia, mainly of the lower limbs. Respiratory compromise was severe, usually requiring nocturnal ventilation. EMG indicated chronic neurogenic changes, and sural nerve biopsy of 2 patients showed axonal loss and thinly myelinated giant axons. Muscle biopsy showed fiber-type grouping, small atrophic fibers, internal nuclei, accumulation of granulomatous material, myofibrillar loss, and Z-line streaming. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22734908+19085932" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
<p><a href="#10" class="mim-tip-reference" title="Semmler, A.-L., Sacconi, S., Bach, J. E., Liebe, C., Burmann, J., Kley, R. A., Ferbert, A., Anderheiden, R., Van den Bergh, P., Martin, J.-J., De Jonghe, P., Neuen-Jacob, E., and 9 others. &lt;strong&gt;Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.&lt;/strong&gt; Orphanet J. Rare Dis. 9: 121, 2014. Note: Electronic Article.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/25208129/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;25208129&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=25208129[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1186/s13023-014-0121-9&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="25208129">Semmler et al. (2014)</a> reported a man with a relatively mild form of MFM6. He developed distal lower limb weakness at age 34 years, which progressed to proximal muscle weakness affecting the upper and lower limbs. Muscle biopsy showed vacuoles, core-like lesions, and some necrotic fibers; ultrastructural examination showed tubulofilamentous accumulations, Z-disc streaming, and the accumulation of granulofilamentous material. The patient also had an axonal sensorimotor polyneuropathy manifest as decreased vibration sense and ataxic gait, but sural nerve biopsy did not show giant axons. He did not have cardiac or respiratory muscle involvement. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25208129" 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 class="mim-changed mim-change"><p><a href="#4" class="mim-tip-reference" title="Kim, S. J., Nam, S. H., Kanwal, S., Nam, D. E., Yoo, D. H., Chae, J.-H., Suh, Y.-L., Chung, K. W., Choi, B.-O. &lt;strong&gt;BAG3 mutation in a patient with atypical phenotypes of myofibrillar myopathy and Charcot-Marie-Tooth disease.&lt;/strong&gt; Genes Genomics 40: 1269-1277, 2018.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/30145633/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;30145633&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s13258-018-0721-1&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="30145633">Kim et al. (2018)</a> reported a 15-year-old girl, born of unrelated Korean parents, who developed gait disturbances and rigid spine at 11 years of age. She had toe-walking, contractures of the hips, knees, and ankles, and restrictive pulmonary disease due to diaphragmatic paralysis, but no cardiomyopathy. Muscle biopsy showed myofibrillar myopathy, and MRI studies showed fatty infiltration and atrophy of the lower limb muscles. Electrophysiologic studies were consistent with an axonal sensorimotor peripheral neuropathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30145633" 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>
<div class="mim-changed mim-change"><p><a href="#6" class="mim-tip-reference" title="Malatesta, L., Arya, K., Gokden, M., Stefans, V., Veerapandiyan, A. &lt;strong&gt;BAG3 myopathy presenting with prominent neuropathic phenotype and no cardiac or respiratory involvement: a case report and literature review.&lt;/strong&gt; J. Clin. Neuromusc. Dis. 21: 230-239, 2020.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/32453099/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;32453099&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/CND.0000000000000300&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="32453099">Malatesta et al. (2020)</a> reported a 13-year-old Caucasian girl who presented at 3 years of age with toe-walking, clumsiness, and falls associated with distal leg muscle weakness and atrophy, absent deep tendon reflexes, and length-dependent sensory impairment in the lower limbs. She had pes cavus, scoliosis, and high-arched palate, but not rigid spine. She did not have respiratory insufficiency or cardiomyopathy. Sural nerve biopsy showed loss of small and large myelinated fibers, thin myelin sheaths, and degenerating axons. Electrophysiologic studies suggested a demyelinating sensorimotor polyneuropathy, consistent with Charcot-Marie-Tooth disease. Serum creatine kinase was elevated, and muscle biopsy was consistent with myofibrillar myopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32453099" 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>
<div class="mim-changed mim-change"><p><a href="#1" class="mim-tip-reference" title="Hamaguchi, M., Kokubun, N., Inoue, M., Komagamine, T., Aoki, R., Nishino, I., Hirata, K. &lt;strong&gt;A family with adult-onset myofibrillar myopathy with BAG3 mutation (P470S) presenting with axonal polyneuropathy.&lt;/strong&gt; Neuromusc. Disord. 30: 727-731, 2020.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/32859500/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;32859500&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.nmd.2020.07.012&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="32859500">Hamaguchi et al. (2020)</a> reported a Japanese man who developed slowly progressive muscle weakness of the lower limbs at 34 years of age. He had difficulty with tip-toeing, increased stumbling, and difficulty climbing stairs. Physical examination at age 42 showed distal muscle weakness, hyporeflexia, and decreased sensations in the feet. Electrophysiologic studies showed decreased CMAP amplitude and decreased amplitudes of sensory nerve action potentials in the sural nerve. EMG was consistent with a myopathy. MRI showed atrophy of the lumbar paraspinal muscles and proximal and distal muscles of the lower limbs. Muscle biopsy showed features of myofibrillar myopathy with fiber size variability, disorganized intermyofibrillar network, and rimmed vacuoles. Immunostaining showed reactivity with desmin (<a href="/entry/125660">125660</a>), BAG2 (<a href="/entry/603882">603882</a>), HSPB8 (<a href="/entry/608014">608014</a>), filamin C (<a href="/entry/102565">102565</a>), p62 (SQSTM1; <a href="/entry/601530">601530</a>), and ubiquitin, particularly in atrophic fibers, rimmed vacuoles, and cytoplasmic inclusions. The patient's affected mother was a 68-year-old farmer who had onset of distal sensory impairment and difficulty walking in her forties. Nerve conduction studies at age 50 were consistent with a sensorimotor axonal polyneuropathy; MRI showed marked muscle atrophy in the lower limbs. Muscle biopsy was not performed in the mother. Serum creatine kinase was increased in both. Both patients also had restrictive pulmonary function, prolonged cardiac QT intervals and infrequent premature atrial contractions. Family history suggested other affected relatives. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32859500" 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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<a id="inheritance" class="mim-anchor"></a>
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<p><a href="#9" class="mim-tip-reference" title="Selcen, D., Muntoni, F., Burton, B. K., Pegoraro, E., Sewry, C., Bite, A. V., Engel, A. G. &lt;strong&gt;Mutation in BAG3 causes severe dominant childhood muscular dystrophy.&lt;/strong&gt; Ann. Neurol. 65: 83-89, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19085932/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19085932&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19085932[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ana.21553&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19085932">Selcen et al. (2009)</a> determined that MFM6 is an autosomal dominant disorder. The mutation occurs de novo in most affected patients, but transmission from an unaffected parent who is somatic mosaic has been reported (<a href="#7" class="mim-tip-reference" title="Odgerel, Z., Sarkozy, A., Lee, H.-S., McKenna, C., Rankin, J., Straub, V., Lochmuller, H., Paola, F., D&#x27;Amico, A., Bertini, E., Bushby, K., Goldfarb, L. G. &lt;strong&gt;Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation.&lt;/strong&gt; Neuromusc. Disord. 20: 438-442, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20605452/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20605452&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=20605452[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.nmd.2010.05.004&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20605452">Odgerel et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20605452+19085932" 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 class="mim-changed mim-change"><p>The transmission pattern of MFM6 in the family reported by <a href="#1" class="mim-tip-reference" title="Hamaguchi, M., Kokubun, N., Inoue, M., Komagamine, T., Aoki, R., Nishino, I., Hirata, K. &lt;strong&gt;A family with adult-onset myofibrillar myopathy with BAG3 mutation (P470S) presenting with axonal polyneuropathy.&lt;/strong&gt; Neuromusc. Disord. 30: 727-731, 2020.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/32859500/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;32859500&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.nmd.2020.07.012&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="32859500">Hamaguchi et al. (2020)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32859500" 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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<div class="mim-changed mim-change"><p>In 3 unrelated patients with childhood onset of rapidly progressive myofibrillar myopathy, <a href="#9" class="mim-tip-reference" title="Selcen, D., Muntoni, F., Burton, B. K., Pegoraro, E., Sewry, C., Bite, A. V., Engel, A. G. &lt;strong&gt;Mutation in BAG3 causes severe dominant childhood muscular dystrophy.&lt;/strong&gt; Ann. Neurol. 65: 83-89, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19085932/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19085932&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19085932[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ana.21553&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19085932">Selcen et al. (2009)</a> identified the same heterozygous mutation in the BAG3 gene (P209L; <a href="/entry/603883#0001">603883.0001</a>). The mutation was absent in both parents of 2 of the patients, indicating de novo occurrence; parental DNA from the third patient was not available. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19085932" 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>
<p>In 4 patients from 3 unrelated families with MFM6, <a href="#7" class="mim-tip-reference" title="Odgerel, Z., Sarkozy, A., Lee, H.-S., McKenna, C., Rankin, J., Straub, V., Lochmuller, H., Paola, F., D&#x27;Amico, A., Bertini, E., Bushby, K., Goldfarb, L. G. &lt;strong&gt;Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation.&lt;/strong&gt; Neuromusc. Disord. 20: 438-442, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20605452/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20605452&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=20605452[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.nmd.2010.05.004&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20605452">Odgerel et al. (2010)</a> identified a heterozygous P209L mutation. The mutation occurred de novo in 2 patients. Two brothers inherited the mutation from their unaffected father, who was somatic mosaic for the mutation, with an expression level of 17% in the peripheral blood lymphocytes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20605452" 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="Lee, H. C., Cherk, S. W., Chan, S. K., Wong, S., Tong, T. W., Ho, W. S., Chan, A. Y., Lee, K. C., Mak, C. M. &lt;strong&gt;BAG3-related myofibrillar myopathy in a Chinese family.&lt;/strong&gt; Clin. Genet. 81: 394-398, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21361913/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21361913&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2011.01659.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21361913">Lee et al. (2012)</a> identified a de novo heterozygous P209L mutation in the BAG3 gene in a Chinese girl with myofibrillar myopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21361913" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
<p>In 4 patients with MFM6, <a href="#3" class="mim-tip-reference" title="Jaffer, F., Murphy, S. M., Scoto, M., Healy, E., Rossor, A. M., Brandner, S., Phadke, R., Selcen, D., Jungbluth, H., Muntoni, F., Reilly, M. M. &lt;strong&gt;BAG3 mutations: another cause of giant axonal neuropathy.&lt;/strong&gt; J. Peripher. Nerv. Syst. 17: 210-216, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22734908/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;22734908&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1529-8027.2012.00409.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="22734908">Jaffer et al. (2012)</a> identified a heterozygous P209L mutation. One of the patients had a sister who was similarly affected, but DNA was not available. Their father had died of a similar but milder disorder at age 30 years, suggesting that he may have been somatic mosaic for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22734908" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
<p>In a man with adult-onset MFM6, <a href="#10" class="mim-tip-reference" title="Semmler, A.-L., Sacconi, S., Bach, J. E., Liebe, C., Burmann, J., Kley, R. A., Ferbert, A., Anderheiden, R., Van den Bergh, P., Martin, J.-J., De Jonghe, P., Neuen-Jacob, E., and 9 others. &lt;strong&gt;Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.&lt;/strong&gt; Orphanet J. Rare Dis. 9: 121, 2014. Note: Electronic Article.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/25208129/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;25208129&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=25208129[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1186/s13023-014-0121-9&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="25208129">Semmler et al. (2014)</a> identified a de novo heterozygous missense mutation in the BAG3 gene (P209Q; <a href="/entry/603883#0010">603883.0010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25208129" 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 class="mim-changed mim-change"><p>In a 15-year-old Korean girl with MFM6 and a peripheral axonal sensorimotor neuropathy consistent with Charcot-Marie-Tooth disease, <a href="#4" class="mim-tip-reference" title="Kim, S. J., Nam, S. H., Kanwal, S., Nam, D. E., Yoo, D. H., Chae, J.-H., Suh, Y.-L., Chung, K. W., Choi, B.-O. &lt;strong&gt;BAG3 mutation in a patient with atypical phenotypes of myofibrillar myopathy and Charcot-Marie-Tooth disease.&lt;/strong&gt; Genes Genomics 40: 1269-1277, 2018.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/30145633/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;30145633&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s13258-018-0721-1&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="30145633">Kim et al. (2018)</a> identified a de novo heterozygous P209L mutation in the BAG3 gene. The mutation was found by whole-exome sequencing; functional studies of the variant were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30145633" 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>
<div class="mim-changed mim-change"><p>In a 13-year-old Caucasian girl with MFM6 and a peripheral sensorimotor neuropathy consistent with Charcot-Marie-Tooth disease, <a href="#6" class="mim-tip-reference" title="Malatesta, L., Arya, K., Gokden, M., Stefans, V., Veerapandiyan, A. &lt;strong&gt;BAG3 myopathy presenting with prominent neuropathic phenotype and no cardiac or respiratory involvement: a case report and literature review.&lt;/strong&gt; J. Clin. Neuromusc. Dis. 21: 230-239, 2020.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/32453099/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;32453099&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/CND.0000000000000300&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="32453099">Malatesta et al. (2020)</a> identified a de novo heterozygous P209L mutation in the BAG3 gene. The mutation was found by trio-based exome sequencing; functional studies of the variant were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32453099" 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>
<div class="mim-changed mim-change"><p>In a Japanese man and his mother with MFM6 and an axonal sensorimotor peripheral neuropathy consistent with Charcot-Marie-Tooth disease, <a href="#1" class="mim-tip-reference" title="Hamaguchi, M., Kokubun, N., Inoue, M., Komagamine, T., Aoki, R., Nishino, I., Hirata, K. &lt;strong&gt;A family with adult-onset myofibrillar myopathy with BAG3 mutation (P470S) presenting with axonal polyneuropathy.&lt;/strong&gt; Neuromusc. Disord. 30: 727-731, 2020.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/32859500/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;32859500&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.nmd.2020.07.012&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="32859500">Hamaguchi et al. (2020)</a> identified a heterozygous missense mutation in the BAG3 gene (P470S; <a href="/entry/603883#0012">603883.0012</a>). The mutation was found by sequencing a MFM-targeted gene panel and confirmed by Sanger sequencing. No other family members were sequenced. Functional studies of the variant were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32859500" 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 href="#2" class="mim-tip-reference" title="Homma, S., Iwasaki, M., Shelton, G. D., Engvall, E., Reed, J. C., Takayama, S. &lt;strong&gt;BAG3 deficiency results in fulminant myopathy and early lethality.&lt;/strong&gt; Am. J. Path. 169: 761-773, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16936253/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16936253&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=16936253[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.2353/ajpath.2006.060250&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16936253">Homma et al. (2006)</a> showed that Bag3 is prominently expressed in striated muscle and colocalizes with Z discs. Mice with homozygous disruption of the Bag3 gene developed normally, but deteriorated postnatally with stunted growth evident by 1 to 2 weeks of age and death by 4 weeks. Bag3-deficient mice developed a fulminant myopathy characterized by noninflammatory myofibrillar degeneration with apoptotic features. Knockdown of Bag3 expression in cultured myoblasts increased apoptosis on induction of differentiation, suggesting that Bag3 is needed for maintenance of myotube survival and confirming a cell autonomous role for Bag3 in muscle. <a href="#2" class="mim-tip-reference" title="Homma, S., Iwasaki, M., Shelton, G. D., Engvall, E., Reed, J. C., Takayama, S. &lt;strong&gt;BAG3 deficiency results in fulminant myopathy and early lethality.&lt;/strong&gt; Am. J. Path. 169: 761-773, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16936253/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16936253&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=16936253[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.2353/ajpath.2006.060250&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16936253">Homma et al. (2006)</a> concluded that, although BAG3 is not required for muscle development, it appears to be critically important for maintenance of mature skeletal muscle. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16936253" 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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<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
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<a id="1" class="mim-anchor"></a>
<a id="Hamaguchi2020" class="mim-anchor"></a>
<div class="mim-changed mim-change">
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Hamaguchi, M., Kokubun, N., Inoue, M., Komagamine, T., Aoki, R., Nishino, I., Hirata, K.
<strong>A family with adult-onset myofibrillar myopathy with BAG3 mutation (P470S) presenting with axonal polyneuropathy.</strong>
Neuromusc. Disord. 30: 727-731, 2020.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32859500/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32859500</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32859500" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.nmd.2020.07.012" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
<a id="Homma2006" class="mim-anchor"></a>
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Homma, S., Iwasaki, M., Shelton, G. D., Engvall, E., Reed, J. C., Takayama, S.
<strong>BAG3 deficiency results in fulminant myopathy and early lethality.</strong>
Am. J. Path. 169: 761-773, 2006.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16936253/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16936253</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16936253[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16936253" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.2353/ajpath.2006.060250" target="_blank">Full Text</a>]
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<a id="Jaffer2012" class="mim-anchor"></a>
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Jaffer, F., Murphy, S. M., Scoto, M., Healy, E., Rossor, A. M., Brandner, S., Phadke, R., Selcen, D., Jungbluth, H., Muntoni, F., Reilly, M. M.
<strong>BAG3 mutations: another cause of giant axonal neuropathy.</strong>
J. Peripher. Nerv. Syst. 17: 210-216, 2012.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22734908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22734908</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22734908" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1529-8027.2012.00409.x" target="_blank">Full Text</a>]
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<a id="Kim2018" class="mim-anchor"></a>
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Kim, S. J., Nam, S. H., Kanwal, S., Nam, D. E., Yoo, D. H., Chae, J.-H., Suh, Y.-L., Chung, K. W., Choi, B.-O.
<strong>BAG3 mutation in a patient with atypical phenotypes of myofibrillar myopathy and Charcot-Marie-Tooth disease.</strong>
Genes Genomics 40: 1269-1277, 2018.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30145633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30145633</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30145633" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/s13258-018-0721-1" target="_blank">Full Text</a>]
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Lee, H. C., Cherk, S. W., Chan, S. K., Wong, S., Tong, T. W., Ho, W. S., Chan, A. Y., Lee, K. C., Mak, C. M.
<strong>BAG3-related myofibrillar myopathy in a Chinese family.</strong>
Clin. Genet. 81: 394-398, 2012.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21361913/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21361913</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21361913" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.2011.01659.x" target="_blank">Full Text</a>]
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Malatesta, L., Arya, K., Gokden, M., Stefans, V., Veerapandiyan, A.
<strong>BAG3 myopathy presenting with prominent neuropathic phenotype and no cardiac or respiratory involvement: a case report and literature review.</strong>
J. Clin. Neuromusc. Dis. 21: 230-239, 2020.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32453099/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32453099</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32453099" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1097/CND.0000000000000300" target="_blank">Full Text</a>]
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Odgerel, Z., Sarkozy, A., Lee, H.-S., McKenna, C., Rankin, J., Straub, V., Lochmuller, H., Paola, F., D'Amico, A., Bertini, E., Bushby, K., Goldfarb, L. G.
<strong>Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation.</strong>
Neuromusc. Disord. 20: 438-442, 2010.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20605452/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20605452</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20605452[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20605452" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.nmd.2010.05.004" target="_blank">Full Text</a>]
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Sabatelli, M., Bertini, E., Ricci, E., Salviati, G., Magi, S., Papacci, M., Tonali, P.
<strong>Peripheral neuropathy with giant axons and cardiomyopathy associated with desmin type intermediate filaments in skeletal muscle.</strong>
J. Neurol. Sci. 109: 1-10, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1517757/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1517757</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1517757" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0022-510x(92)90086-z" target="_blank">Full Text</a>]
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<a id="Selcen2009" class="mim-anchor"></a>
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Selcen, D., Muntoni, F., Burton, B. K., Pegoraro, E., Sewry, C., Bite, A. V., Engel, A. G.
<strong>Mutation in BAG3 causes severe dominant childhood muscular dystrophy.</strong>
Ann. Neurol. 65: 83-89, 2009.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19085932/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19085932</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19085932[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19085932" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ana.21553" target="_blank">Full Text</a>]
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<a id="Semmler2014" class="mim-anchor"></a>
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Semmler, A.-L., Sacconi, S., Bach, J. E., Liebe, C., Burmann, J., Kley, R. A., Ferbert, A., Anderheiden, R., Van den Bergh, P., Martin, J.-J., De Jonghe, P., Neuen-Jacob, E., and 9 others.
<strong>Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.</strong>
Orphanet J. Rare Dis. 9: 121, 2014. Note: Electronic Article.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25208129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25208129</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25208129[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25208129" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1186/s13023-014-0121-9" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 02/10/2025
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Cassandra L. Kniffin - updated : 10/14/2014<br>Cassandra L. Kniffin - updated : 6/2/2014<br>Cassandra L. Kniffin - updated : 1/2/2013
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Cassandra L. Kniffin : 8/7/2009
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alopez : 02/10/2025
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ckniffin : 02/10/2025<br>carol : 09/12/2016<br>carol : 09/22/2015<br>mgross : 4/24/2015<br>carol : 11/6/2014<br>carol : 10/17/2014<br>mcolton : 10/15/2014<br>ckniffin : 10/14/2014<br>carol : 6/13/2014<br>carol : 6/13/2014<br>mcolton : 6/6/2014<br>ckniffin : 6/2/2014<br>carol : 8/7/2013<br>joanna : 8/6/2013<br>carol : 1/10/2013<br>ckniffin : 1/2/2013<br>alopez : 2/3/2012<br>terry : 6/3/2011<br>terry : 10/12/2010<br>wwang : 8/28/2009<br>ckniffin : 8/10/2009<br>ckniffin : 8/10/2009
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<strong>#</strong> 612954
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MYOPATHY, MYOFIBRILLAR, 6; MFM6
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<strong>ORPHA:</strong> 199340; &nbsp;
<strong>DO:</strong> 0080097; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
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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
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Gene/Locus <br /> MIM number
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10q26.11
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Myopathy, myofibrillar, 6
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612954
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Autosomal dominant
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3
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BAG3
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603883
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that myofibrillar myopathy-6 (MFM6) is caused by heterozygous mutation in the BAG3 gene (603883) on chromosome 10q26.</p><p>Heterozygous mutations in the BAG3 gene can also cause autosomal dominant distal hereditary motor neuronopathy-15 (HMND15; 621094), axonal Charcot-Marie-Tooth disease 2JJ (CMT2JJ; 621095), and dilated cardiomyopathy-1HH (CMD1HH; 613881). These allelic disorders have overlapping features.</p>
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<strong>Description</strong>
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<p>Myofibrillar myopathy-6 (MFM6) is an autosomal dominant severe neuromuscular disorder characterized by onset in the first decade of progressive generalized and proximal muscle weakness, respiratory insufficiency, cardiomyopathy, and skeletal deformities related to muscle weakness. Most patients also have a motor or sensorimotor axonal peripheral neuropathy. Muscle biopsy shows fiber-type grouping, disruption of the Z lines, rimmed vacuoles, and filamentous inclusions, consistent with a myofibrillar myopathy. The disorder may cause severe disability by the second decade, leading to cardiac transplant, ventilation, and/or loss of ambulation (summary by Jaffer et al., 2012). </p><p>For a phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy (MFM), see MFM1 (601419).</p>
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<strong>Clinical Features</strong>
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<p>Selcen et al. (2009) reported 3 unrelated children, 2 boys and a girl, with early-onset rapidly progressive myofibrillar myopathy. The first patients had been a toe walker since early childhood. In his early teens, he experienced a restrictive cardiomyopathy and received a heart transplant at age 13 years. Two years later, he had severe diffuse muscle weakness and atrophy, contractures at the knees and ankles, bilateral diaphragm paralysis, and respiratory insufficiency. The second patient presented at age 13 years with scoliosis, rigid spine, and easy fatigability. By the age of 14 years, she had restrictive respiratory insufficiency, and at age 15, she had hypernasal speech, and axial and progressively severe distal, more than proximal, muscle weakness. EMG conduction studies demonstrated myopathic motor unit potentials, and nerve conduction studies showed axonal and demyelinating peripheral neuropathy. EKG showed a hypertrophic cardiomyopathy. The third patient walked on his toes since toddler age. From 7 years of age, he had progressive leg weakness, fatigability, and a valgus ankle deformity. At the age of 11 years, he had moderate proximal muscle weakness, thoracic scoliosis, and a rigid spine predominantly affecting the cervical region. EKG showed a restrictive cardiomyopathy with trivial pulmonary and mitral regurgitation. His symptoms progressed rapidly, and by age 12, he had marked weakness of axial and proximal limb muscles, scapular winging, and reduced forced vital capacity. He died from respiratory insufficiency and a chest infection at age 13. Selcen et al. (2009) noted that serum creatine kinase was significantly increased in all 3 patients. Skeletal muscle biopsy showed dystrophic changes with fiber size variation, fiber splitting, necrotic fibers, internal nuclei, and structural alterations consisting of replacement of the normal myofibrillar markings by small, dense granules, or larger hyaline masses, or amorphous material. Numerous abnormal fibers displayed intense congophilia, consistent with the presence of beta-pleated sheets. The abnormal fibers displayed strong ectopic immunoreactivity for Bag3. Electron microscopy studies showed that minimally affected myofibers displayed Z disc streaming and accumulation of small pleomorphic dense structures between the myofibrils, More severely affected fibers had large lakes of small, pleomorphic, dense structures surrounded by myofibrillar remnants. Apoptotic nuclei were also observed. </p><p>Odgerel et al. (2010) reported 4 patients from 3 unrelated families with MFM6. One of the patients was an Italian girl who had previously been reported by Sabatelli et al. (1992). Between ages 5 and 12 years, all developed a skeletal myopathy with severe generalized and proximal muscle weakness and atrophy and respiratory insufficiency, as well as cardiomyopathy. Muscle biopsy showed abnormal desmin (DES; 125660)-positive inclusions and myofibrillar breakdown with loss of Z-line streaming. All patients also had peripheral neuropathy with axonal loss, thin myelin sheaths, and giant axons on nerve biopsy. Two patients underwent cardiac transplant in their teens and were ventilator-dependent; the other 2 patients died at ages 9 and 20 years. </p><p>Lee et al. (2012) reported a Chinese girl with myofibrillar myopathy. At age 6 years, she developed difficulty walking due to proximal muscle weakness, although she remained ambulatory at age 12. Both upper and lower extremities were affected. She developed rapidly progressive contractures of the Achilles tendons and limited spine movement due to scoliosis. Other features included hypertrophic cardiomyopathy, prolonged QT interval, and mild restrictive lung disease. Nerve conduction studies and electromyography suggested a neurogenic axonal disease. Skeletal muscle biopsy showed atrophic fibers, focal myofibrillar disorganization, and type 1 fiber predominance. Electron microscopy showed sarcoplasmic accumulation of electron-dense granulofilamentous material and myofibrillar degeneration with minicores. Sural nerve biopsy showed axonopathy in some large myelinated fibers and occasional giant axons with thin myelin sheaths. </p><p>Jaffer et al. (2012) reported 5 patients with MFM6, including 1 boy previously described by Selcen et al. (2009) and 2 affected sisters. The patients had onset of rapidly progressive cardiomyopathy and generalized skeletal muscle weakness in late childhood or early adolescence. Patients showed toe walking due to steppage gait in early childhood, although early motor development was normal. There were skeletal abnormalities due to muscle weakness, such as large and small joint contractures, scoliosis, and pes cavus. Signs of a peripheral neuropathy included distal sensory impairment and hyporeflexia, mainly of the lower limbs. Respiratory compromise was severe, usually requiring nocturnal ventilation. EMG indicated chronic neurogenic changes, and sural nerve biopsy of 2 patients showed axonal loss and thinly myelinated giant axons. Muscle biopsy showed fiber-type grouping, small atrophic fibers, internal nuclei, accumulation of granulomatous material, myofibrillar loss, and Z-line streaming. </p><p>Semmler et al. (2014) reported a man with a relatively mild form of MFM6. He developed distal lower limb weakness at age 34 years, which progressed to proximal muscle weakness affecting the upper and lower limbs. Muscle biopsy showed vacuoles, core-like lesions, and some necrotic fibers; ultrastructural examination showed tubulofilamentous accumulations, Z-disc streaming, and the accumulation of granulofilamentous material. The patient also had an axonal sensorimotor polyneuropathy manifest as decreased vibration sense and ataxic gait, but sural nerve biopsy did not show giant axons. He did not have cardiac or respiratory muscle involvement. </p><p>Kim et al. (2018) reported a 15-year-old girl, born of unrelated Korean parents, who developed gait disturbances and rigid spine at 11 years of age. She had toe-walking, contractures of the hips, knees, and ankles, and restrictive pulmonary disease due to diaphragmatic paralysis, but no cardiomyopathy. Muscle biopsy showed myofibrillar myopathy, and MRI studies showed fatty infiltration and atrophy of the lower limb muscles. Electrophysiologic studies were consistent with an axonal sensorimotor peripheral neuropathy. </p><p>Malatesta et al. (2020) reported a 13-year-old Caucasian girl who presented at 3 years of age with toe-walking, clumsiness, and falls associated with distal leg muscle weakness and atrophy, absent deep tendon reflexes, and length-dependent sensory impairment in the lower limbs. She had pes cavus, scoliosis, and high-arched palate, but not rigid spine. She did not have respiratory insufficiency or cardiomyopathy. Sural nerve biopsy showed loss of small and large myelinated fibers, thin myelin sheaths, and degenerating axons. Electrophysiologic studies suggested a demyelinating sensorimotor polyneuropathy, consistent with Charcot-Marie-Tooth disease. Serum creatine kinase was elevated, and muscle biopsy was consistent with myofibrillar myopathy. </p><p>Hamaguchi et al. (2020) reported a Japanese man who developed slowly progressive muscle weakness of the lower limbs at 34 years of age. He had difficulty with tip-toeing, increased stumbling, and difficulty climbing stairs. Physical examination at age 42 showed distal muscle weakness, hyporeflexia, and decreased sensations in the feet. Electrophysiologic studies showed decreased CMAP amplitude and decreased amplitudes of sensory nerve action potentials in the sural nerve. EMG was consistent with a myopathy. MRI showed atrophy of the lumbar paraspinal muscles and proximal and distal muscles of the lower limbs. Muscle biopsy showed features of myofibrillar myopathy with fiber size variability, disorganized intermyofibrillar network, and rimmed vacuoles. Immunostaining showed reactivity with desmin (125660), BAG2 (603882), HSPB8 (608014), filamin C (102565), p62 (SQSTM1; 601530), and ubiquitin, particularly in atrophic fibers, rimmed vacuoles, and cytoplasmic inclusions. The patient's affected mother was a 68-year-old farmer who had onset of distal sensory impairment and difficulty walking in her forties. Nerve conduction studies at age 50 were consistent with a sensorimotor axonal polyneuropathy; MRI showed marked muscle atrophy in the lower limbs. Muscle biopsy was not performed in the mother. Serum creatine kinase was increased in both. Both patients also had restrictive pulmonary function, prolonged cardiac QT intervals and infrequent premature atrial contractions. Family history suggested other affected relatives. </p>
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<strong>Inheritance</strong>
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<p>Selcen et al. (2009) determined that MFM6 is an autosomal dominant disorder. The mutation occurs de novo in most affected patients, but transmission from an unaffected parent who is somatic mosaic has been reported (Odgerel et al., 2010). </p><p>The transmission pattern of MFM6 in the family reported by Hamaguchi et al. (2020) was consistent with autosomal dominant inheritance. </p>
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<strong>Molecular Genetics</strong>
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<p>In 3 unrelated patients with childhood onset of rapidly progressive myofibrillar myopathy, Selcen et al. (2009) identified the same heterozygous mutation in the BAG3 gene (P209L; 603883.0001). The mutation was absent in both parents of 2 of the patients, indicating de novo occurrence; parental DNA from the third patient was not available. </p><p>In 4 patients from 3 unrelated families with MFM6, Odgerel et al. (2010) identified a heterozygous P209L mutation. The mutation occurred de novo in 2 patients. Two brothers inherited the mutation from their unaffected father, who was somatic mosaic for the mutation, with an expression level of 17% in the peripheral blood lymphocytes. </p><p>Lee et al. (2012) identified a de novo heterozygous P209L mutation in the BAG3 gene in a Chinese girl with myofibrillar myopathy. </p><p>In 4 patients with MFM6, Jaffer et al. (2012) identified a heterozygous P209L mutation. One of the patients had a sister who was similarly affected, but DNA was not available. Their father had died of a similar but milder disorder at age 30 years, suggesting that he may have been somatic mosaic for the mutation. </p><p>In a man with adult-onset MFM6, Semmler et al. (2014) identified a de novo heterozygous missense mutation in the BAG3 gene (P209Q; 603883.0010). </p><p>In a 15-year-old Korean girl with MFM6 and a peripheral axonal sensorimotor neuropathy consistent with Charcot-Marie-Tooth disease, Kim et al. (2018) identified a de novo heterozygous P209L mutation in the BAG3 gene. The mutation was found by whole-exome sequencing; functional studies of the variant were not performed. </p><p>In a 13-year-old Caucasian girl with MFM6 and a peripheral sensorimotor neuropathy consistent with Charcot-Marie-Tooth disease, Malatesta et al. (2020) identified a de novo heterozygous P209L mutation in the BAG3 gene. The mutation was found by trio-based exome sequencing; functional studies of the variant were not performed. </p><p>In a Japanese man and his mother with MFM6 and an axonal sensorimotor peripheral neuropathy consistent with Charcot-Marie-Tooth disease, Hamaguchi et al. (2020) identified a heterozygous missense mutation in the BAG3 gene (P470S; 603883.0012). The mutation was found by sequencing a MFM-targeted gene panel and confirmed by Sanger sequencing. No other family members were sequenced. Functional studies of the variant were not performed. </p>
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<strong>Animal Model</strong>
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<p>Homma et al. (2006) showed that Bag3 is prominently expressed in striated muscle and colocalizes with Z discs. Mice with homozygous disruption of the Bag3 gene developed normally, but deteriorated postnatally with stunted growth evident by 1 to 2 weeks of age and death by 4 weeks. Bag3-deficient mice developed a fulminant myopathy characterized by noninflammatory myofibrillar degeneration with apoptotic features. Knockdown of Bag3 expression in cultured myoblasts increased apoptosis on induction of differentiation, suggesting that Bag3 is needed for maintenance of myotube survival and confirming a cell autonomous role for Bag3 in muscle. Homma et al. (2006) concluded that, although BAG3 is not required for muscle development, it appears to be critically important for maintenance of mature skeletal muscle. </p>
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<strong>REFERENCES</strong>
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Hamaguchi, M., Kokubun, N., Inoue, M., Komagamine, T., Aoki, R., Nishino, I., Hirata, K.
<strong>A family with adult-onset myofibrillar myopathy with BAG3 mutation (P470S) presenting with axonal polyneuropathy.</strong>
Neuromusc. Disord. 30: 727-731, 2020.
[PubMed: 32859500]
[Full Text: https://doi.org/10.1016/j.nmd.2020.07.012]
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Homma, S., Iwasaki, M., Shelton, G. D., Engvall, E., Reed, J. C., Takayama, S.
<strong>BAG3 deficiency results in fulminant myopathy and early lethality.</strong>
Am. J. Path. 169: 761-773, 2006.
[PubMed: 16936253]
[Full Text: https://doi.org/10.2353/ajpath.2006.060250]
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Jaffer, F., Murphy, S. M., Scoto, M., Healy, E., Rossor, A. M., Brandner, S., Phadke, R., Selcen, D., Jungbluth, H., Muntoni, F., Reilly, M. M.
<strong>BAG3 mutations: another cause of giant axonal neuropathy.</strong>
J. Peripher. Nerv. Syst. 17: 210-216, 2012.
[PubMed: 22734908]
[Full Text: https://doi.org/10.1111/j.1529-8027.2012.00409.x]
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Kim, S. J., Nam, S. H., Kanwal, S., Nam, D. E., Yoo, D. H., Chae, J.-H., Suh, Y.-L., Chung, K. W., Choi, B.-O.
<strong>BAG3 mutation in a patient with atypical phenotypes of myofibrillar myopathy and Charcot-Marie-Tooth disease.</strong>
Genes Genomics 40: 1269-1277, 2018.
[PubMed: 30145633]
[Full Text: https://doi.org/10.1007/s13258-018-0721-1]
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Lee, H. C., Cherk, S. W., Chan, S. K., Wong, S., Tong, T. W., Ho, W. S., Chan, A. Y., Lee, K. C., Mak, C. M.
<strong>BAG3-related myofibrillar myopathy in a Chinese family.</strong>
Clin. Genet. 81: 394-398, 2012.
[PubMed: 21361913]
[Full Text: https://doi.org/10.1111/j.1399-0004.2011.01659.x]
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Malatesta, L., Arya, K., Gokden, M., Stefans, V., Veerapandiyan, A.
<strong>BAG3 myopathy presenting with prominent neuropathic phenotype and no cardiac or respiratory involvement: a case report and literature review.</strong>
J. Clin. Neuromusc. Dis. 21: 230-239, 2020.
[PubMed: 32453099]
[Full Text: https://doi.org/10.1097/CND.0000000000000300]
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Odgerel, Z., Sarkozy, A., Lee, H.-S., McKenna, C., Rankin, J., Straub, V., Lochmuller, H., Paola, F., D'Amico, A., Bertini, E., Bushby, K., Goldfarb, L. G.
<strong>Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation.</strong>
Neuromusc. Disord. 20: 438-442, 2010.
[PubMed: 20605452]
[Full Text: https://doi.org/10.1016/j.nmd.2010.05.004]
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Sabatelli, M., Bertini, E., Ricci, E., Salviati, G., Magi, S., Papacci, M., Tonali, P.
<strong>Peripheral neuropathy with giant axons and cardiomyopathy associated with desmin type intermediate filaments in skeletal muscle.</strong>
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Selcen, D., Muntoni, F., Burton, B. K., Pegoraro, E., Sewry, C., Bite, A. V., Engel, A. G.
<strong>Mutation in BAG3 causes severe dominant childhood muscular dystrophy.</strong>
Ann. Neurol. 65: 83-89, 2009.
[PubMed: 19085932]
[Full Text: https://doi.org/10.1002/ana.21553]
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Semmler, A.-L., Sacconi, S., Bach, J. E., Liebe, C., Burmann, J., Kley, R. A., Ferbert, A., Anderheiden, R., Van den Bergh, P., Martin, J.-J., De Jonghe, P., Neuen-Jacob, E., and 9 others.
<strong>Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.</strong>
Orphanet J. Rare Dis. 9: 121, 2014. Note: Electronic Article.
[PubMed: 25208129]
[Full Text: https://doi.org/10.1186/s13023-014-0121-9]
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Cassandra L. Kniffin - updated : 02/10/2025<br>Cassandra L. Kniffin - updated : 10/14/2014<br>Cassandra L. Kniffin - updated : 6/2/2014<br>Cassandra L. Kniffin - updated : 1/2/2013
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