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<title>
Entry
- #608358 - CONGENITAL MYOPATHY 7A, MYOSIN STORAGE, AUTOSOMAL DOMINANT; CMYO7A
- OMIM
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<span class="h4">#608358</span>
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/608358"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS117000"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<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="#pathogenesis">Pathogenesis</a>
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<a href="#history">History</a>
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<a href="#references"><strong>References</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(CONGENITAL MYOPATHY 7A, MYOSIN STORAGE, AUTOSOMAL DOMINANT) OR (MYH7)" 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="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">&#9658;</span>EuroGentest</div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=10740&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Myosin storage myopathy&nbsp;</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=31700&Typ=Pat" title="Autosomal dominant myosin storage myopathy" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Autosomal dominant myosin …&nbsp;</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/8959" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=608358[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=53698" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Myosin storage myopathy</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=636965" title="Autosomal dominant myosin storage myopathy" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Autosomal dominant myosin …</a></div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111269" 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>
<a id="title" class="mim-anchor"></a>
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<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>SNOMEDCT:</strong> 129620000<br />
<strong>ICD10CM:</strong> G71.09<br />
<strong>ORPHA:</strong> 53698, 636965<br />
<strong>DO:</strong> 0111269<br />
">ICD+</a>
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<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
608358
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<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
CONGENITAL MYOPATHY 7A, MYOSIN STORAGE, AUTOSOMAL DOMINANT; CMYO7A
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</h3>
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<br />
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<a id="alternativeTitles" class="mim-anchor"></a>
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<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT; MSMA<br />
MYOPATHY, HYALINE BODY, AUTOSOMAL DOMINANT<br />
MYOPATHY WITH LYSIS OF TYPE I MYOFIBRILS<br />
SCAPULOPERONEAL MYOPATHY, MYH7-RELATED; SPMM<br />
SCAPULOPERONEAL MUSCULAR DYSTROPHY; SPMD<br />
SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE
</span>
</h4>
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<br />
</div>
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<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/92?start=-3&limit=10&highlight=92">
14q11.2
</a>
</span>
</td>
<td>
<span class="mim-font">
Congenital myopathy 7A, myosin storage, autosomal dominant
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608358"> 608358 </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">
MYH7
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/160760"> 160760 </a>
</span>
</td>
</tr>
</tbody>
</table>
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<a href="/phenotypicSeries/PS117000" class="btn btn-info" role="button"> Phenotypic Series </a>
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PheneGene Graphics <span class="caret"></span>
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<li><a href="/graph/linear/608358" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
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<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GROWTH </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Other </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Thin body habitus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/61294007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">61294007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0039870&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039870</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001533" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001533</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001533" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001533</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Face </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Facial muscle weakness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95666008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95666008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R29.810" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R29.810</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.83" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.83</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/781.94" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">781.94</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0427055&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0427055</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007209" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007209</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0030319" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030319</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030319" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030319</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Mouth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- High-arched palate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/27272007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">27272007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q38.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q38.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240635&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240635</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> RESPIRATORY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Lung </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Reduced vital capacity due to muscle weakness <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842172&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842172</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R94.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R94.2</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002792" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002792</a>]</span><br /> -
Restrictive lung disease <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/36485005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">36485005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0085581&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085581</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002091" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002091</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002091" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002091</a>]</span><br /> -
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 />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> CHEST </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> External Features </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Pectus abnormalities (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4693855&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4693855</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Ribs Sternum Clavicles & Scapulae </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Scapular winging <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/17211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">17211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240953&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240953</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003691" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003691</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003691" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003691</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Spine </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Scoliosis (in some patients) <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 /> -
Kyphosis (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/71311003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">71311003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/414564002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">414564002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/413428007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">413428007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M40.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M40.20</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q76.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q76.41</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/737.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">737.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0265673&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265673</a>, <a href="https://bioportal.bioontology.org/search?q=C0022821&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022821</a>, <a href="https://bioportal.bioontology.org/search?q=C2115817&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2115817</a>, <a href="https://bioportal.bioontology.org/search?q=C0022822&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022822</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002808" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002808</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002808" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002808</a>]</span><br /> -
Hyperlordosis (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/61960001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">61960001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249710008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249710008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1187290008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1187290008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M40.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M40.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0024003&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0024003</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003307" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003307</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003307" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003307</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">
- Joint contractures (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7890003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7890003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M24.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M24.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/718.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">718.4</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/718.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">718.40</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009918&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009918</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034392" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034392</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Feet </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Pes cavus (in some patients) <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">
- Proximal muscle weakness, lower and upper limbs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3149600&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3149600</a>]</span><br /> -
Generalized muscle atrophy <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 /> -
'Waddling' gait <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271706000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271706000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0231712&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0231712</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002515" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002515</a>]</span><br /> -
Difficulty walking <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/719232003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">719232003</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/719.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">719.7</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0311394&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0311394</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002355" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002355</a>]</span><br /> -
Clumsiness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7006003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7006003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0233844&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0233844</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002312" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002312</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002312" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002312</a>]</span><br /> -
Gowers sign <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/85905009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">85905009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234182&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234182</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003391" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003391</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003391" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003391</a>]</span><br /> -
Loss of ambulation (uncommon) <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 /> -
Distal muscle weakness (predominantly lower limb) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3808836&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3808836</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249942005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249942005</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002460" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002460</a>]</span><br /> -
Weakness of foot dorsiflexors <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1866141&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866141</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009027" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009027</a>]</span><br /> -
Scapuloperoneal weakness <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842161&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842161</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003704" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003704</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003704" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003704</a>]</span><br /> -
Scapuloperoneal atrophy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842162&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842162</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003697" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003697</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003697" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003697</a>]</span><br /> -
Foot drop <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/6077001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">6077001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/735601009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">735601009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M21.37" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M21.37</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2894499&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2894499</a>, <a href="https://bioportal.bioontology.org/search?q=C0085684&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085684</a>, <a href="https://bioportal.bioontology.org/search?q=C1866141&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866141</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009027" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009027</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009027" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009027</a>]</span><br /> -
Pseudohypertrophy of the calves <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839666&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839666</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003707" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003707</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003707" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003707</a>]</span><br /> -
Myopathy seen on EMG <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230767&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230767</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/129565002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">129565002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G72.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G72.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M62.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M62.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M60-M63" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M60-M63</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/359.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">359.9</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003198" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003198</a>]</span><br /> -
Variable findings seen on muscle biopsy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5829494&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5829494</a>]</span><br /> -
Hyaline bodies in type 1 fibers <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5829872&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5829872</a>]</span><br /> -
Type 1 fiber predominance <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673678&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673678</a>]</span><br /> -
Type 1 fibers with inclusions containing MYH7 protein aggregates <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842169&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842169</a>]</span><br /> -
Centralized nuclei <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842170&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842170</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003687" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003687</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003687" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003687</a>]</span><br /> -
Fiber-type disproportion <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/240084007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">240084007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0546264&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0546264</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Central Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Delayed motor development (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854301&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854301</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001270</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001270</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Peripheral Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- 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 />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> LABORATORY ABNORMALITIES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Normal or increased serum creatine kinase <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837349&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837349</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 ranges from childhood to adulthood<br /> -
Slowly progressive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854494&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854494</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003677</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003677</a>]</span><br /> -
Clinical variability<br /> -
Intrafamilial variability<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 beta cardiac myosin heavy chain gene (MYH7, <a href="/entry/160760#0028">160760.0028</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, congenital (see also nemaline myopathy (<a href="/phenotypicSeries/PS161800">PS161800</a>), myofibrillar myopathy (<a href="/phenotypicSeries/PS601419">PS601419</a>), and centronuclear myopathy (<a href="/phenotypicSeries/PS160150">PS160150</a>)
- <a href="/phenotypicSeries/PS117000">PS117000</a>
- 33 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/217?start=-3&limit=10&highlight=217"> 1p36.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618578"> Congenital myopathy 19 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618578"> 618578 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/167410"> PAX7 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/167410"> 167410 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/303?start=-3&limit=10&highlight=303"> 1p36.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602771"> Congenital myopathy 3 with rigid spine </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602771"> 602771 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606210"> SELENON </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606210"> 606210 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/741?start=-3&limit=10&highlight=741"> 1p31.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620326"> Congenital myopathy 21 with early respiratory failure </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620326"> 620326 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611327"> DNAJB4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611327"> 611327 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1184?start=-3&limit=10&highlight=1184"> 1q21.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609284"> Congenital myopathy 4B, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609284"> 609284 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191030"> TPM3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191030"> 191030 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1184?start=-3&limit=10&highlight=1184"> 1q21.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/255310"> Congenital myopathy 4A, autosomal dominant </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/255310"> 255310 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191030"> TPM3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191030"> 191030 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1558?start=-3&limit=10&highlight=1558"> 1q32.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620246"> Congenital myopathy 18 due to dihydropyridine receptor defect </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620246"> 620246 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114208"> CACNA1S </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114208"> 114208 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1785?start=-3&limit=10&highlight=1785"> 1q42.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620265"> Congenital myopathy 2B, severe infantile, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620265"> 620265 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102610"> ACTA1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102610"> 102610 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1785?start=-3&limit=10&highlight=1785"> 1q42.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/161800"> Congenital myopathy 2A, typical, autosomal dominant </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/161800"> 161800 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102610"> ACTA1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102610"> 102610 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1785?start=-3&limit=10&highlight=1785"> 1q42.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620278"> Congenital myopathy 2C, severe infantile, autosomal dominant </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620278"> 620278 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102610"> ACTA1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102610"> 102610 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1828?start=-3&limit=10&highlight=1828"> 1q43 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618654"> Congenital myopathy 8 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618654"> 618654 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102573"> ACTN2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102573"> 102573 </a>
</span>
</td>
</tr>
<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/611705"> Congenital myopathy 5 with cardiomyopathy </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611705"> 611705 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/188840"> TTN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/188840"> 188840 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/973?start=-3&limit=10&highlight=973"> 2q34 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618414"> Congenital myopathy 14 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618414"> 618414 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/160780"> MYL1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/160780"> 160780 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/887?start=-3&limit=10&highlight=887"> 3q26.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618822"> ?Congenital myopathy 9A with respiratory insufficiency and bone fractures </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618822"> 618822 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600819"> FXR1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600819"> 600819 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/887?start=-3&limit=10&highlight=887"> 3q26.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618823"> Congenital myopathy 9B, proximal, with minicore lesions </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618823"> 618823 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600819"> FXR1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600819"> 600819 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/410?start=-3&limit=10&highlight=410"> 5q23.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620249"> Congenital myopathy 10B, mild variant </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620249"> 620249 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612453"> MEGF10 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612453"> 612453 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/410?start=-3&limit=10&highlight=410"> 5q23.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614399"> Congenital myopathy 10A, severe variant </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614399"> 614399 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612453"> MEGF10 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612453"> 612453 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/350?start=-3&limit=10&highlight=350"> 8q21.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620964"> Congenital myopathy 25 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620964"> 620964 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605266"> JPH1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605266"> 605266 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/172?start=-3&limit=10&highlight=172"> 9p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609285"> Congenital myopathy 23 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609285"> 609285 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/190990"> TPM2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/190990"> 190990 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/84?start=-3&limit=10&highlight=84"> 10p12.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619967"> Congenital myopathy 11 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619967"> 619967 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610467"> HACD1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610467"> 610467 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/239?start=-3&limit=10&highlight=239"> 10q21.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617336"> Congenital myopathy 24 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617336"> 617336 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608517"> MYPN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608517"> 608517 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/212?start=-3&limit=10&highlight=212"> 11p15.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618975"> Congenital myopathy 17 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618975"> 618975 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/159970"> MYOD1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/159970"> 159970 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/292?start=-3&limit=10&highlight=292"> 12q12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612540"> Congenital myopathy 12 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612540"> 612540 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600016"> CNTN1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600016"> 600016 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/536?start=-3&limit=10&highlight=536"> 12q13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/255995"> Congenital myopathy 13 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/255995"> 255995 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615521"> STAC3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615521"> 615521 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/728?start=-3&limit=10&highlight=728"> 12q23.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618524"> Congenital myopathy 16 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618524"> 618524 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/160794"> MYBPC1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/160794"> 160794 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/92?start=-3&limit=10&highlight=92"> 14q11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608358"> Congenital myopathy 7A, myosin storage, autosomal dominant </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608358"> 608358 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/160760"> MYH7 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/160760"> 160760 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/92?start=-3&limit=10&highlight=92"> 14q11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/255160"> Congenital myopathy 7B, myosin storage, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/255160"> 255160 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/160760"> MYH7 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/160760"> 160760 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/63?start=-3&limit=10&highlight=63"> 15q13.3-q14 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620310"> Congenital myopathy 20 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620310"> 620310 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180903"> RYR3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180903"> 180903 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/226?start=-3&limit=10&highlight=226"> 17p13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605637"> Congenital myopathy 6 with ophthalmoplegia </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605637"> 605637 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/160740"> MYH2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/160740"> 160740 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/852?start=-3&limit=10&highlight=852"> 17q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620351"> Congenital myopathy 22A, classic </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620351"> 620351 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603967"> SCN4A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603967"> 603967 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/852?start=-3&limit=10&highlight=852"> 17q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620369"> Congenital myopathy 22B, severe fetal </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620369"> 620369 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603967"> SCN4A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603967"> 603967 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/649?start=-3&limit=10&highlight=649"> 19q13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/255320"> Congenital myopathy 1B, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/255320"> 255320 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180901"> RYR1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180901"> 180901 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/649?start=-3&limit=10&highlight=649"> 19q13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/117000"> Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/117000"> 117000 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180901"> RYR1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180901"> 180901 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/342?start=-3&limit=10&highlight=342"> 20q13.12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620161"> Congenital myopathy 15 </a>
</span>
</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/620161"> 620161 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191039"> TNNC2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191039"> 191039 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
<div class="text-right small">
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
</div>
<div>
<br />
</div>
<div>
<a id="text" class="mim-anchor"></a>
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<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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</span>
</h4>
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<span class="mim-text-font">
<p>A number sign (#) is used with this entry because of evidence that autosomal dominant myosin storage congenital myopathy-7A (CMYO7A) is caused by heterozygous mutation in the MYH7 gene (<a href="/entry/160760">160760</a>) on chromosome 14q11.</p><p>Biallelic mutation in the MYH7 gene causes autosomal recessive myosin storage congenital myopathy-7B (CMYO7B; <a href="/entry/255160">255160</a>).</p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="description" class="mim-anchor"></a>
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Description</strong>
</span>
</h4>
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<div id="mimDescriptionFold" class="collapse in ">
<span class="mim-text-font">
<p>Autosomal dominant myosin storage congenital myopathy-7A (CMYO7A) is a skeletal muscle disorder with wide phenotypic variability. The age at symptom onset can range from early childhood to late adulthood. Affected individuals have proximal muscle weakness affecting the upper and lower limbs and distal muscle weakness of the lower limbs, resulting in gait difficulties and scapular winging (scapuloperoneal myopathy). Additional features may include thin habitus, high-arched palate, foot drop, pes cavus, calf pseudohypertrophy, and decreased reflexes. The severity is also variable: some patients develop respiratory insufficiency, joint contractures, and scoliosis in the first decades, whereas others are clinically unaffected, but show subtle signs of the disorder on examination. Serum creatine kinase may be normal or elevated. The disease is usually slowly progressive and most patients remain ambulatory. Skeletal muscle biopsy can show different abnormalities, including hyaline bodies, type 1 fiber predominance, congenital fiber-type disproportion (CFTD), and nonspecific myopathic changes with myofibrillar disarray. Intrafamilial variability is common (<a href="#7" class="mim-tip-reference" title="Dye, D. E., Azzarelli, B., Goebel, H. H., Laing, N. G. &lt;strong&gt;Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred.&lt;/strong&gt; Neuromusc. Disord. 16: 357-360, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16684601/&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;16684601&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.nmd.2006.03.011&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="16684601">Dye et al., 2006</a>; <a href="#15" class="mim-tip-reference" title="Pegoraro, E., Gavassini, B. F., Borsato, C., Melacini, P., Vianello, A., Stramere, R., Cenacchi, G., Angelini, C. &lt;strong&gt;MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy.&lt;/strong&gt; Neuromusc. Disord. 17: 321-329, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17336526/&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;17336526&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.nmd.2007.01.010&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="17336526">Pegoraro et al., 2007</a>; review by <a href="#20" class="mim-tip-reference" title="Tajsharghi, H., Oldfors, A. &lt;strong&gt;Myosinopathies: pathology and mechanisms.&lt;/strong&gt; Acta Neuropath. 125: 3-18, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22918376/&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;22918376&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=22918376[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/10.1007/s00401-012-1024-2&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="22918376">Tajsharghi and Oldfors, 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17336526+16684601+22918376" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For a discussion of genetic heterogeneity of congenital myopathy, see CMYO1A (<a href="/entry/117000">117000</a>).</p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="clinicalFeatures" class="mim-anchor"></a>
<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Clinical Features</strong>
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</h4>
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<p><a href="#5" class="mim-tip-reference" title="Cancilla, P. A., Kalyanaraman, K., Verity, M. A., Munsat, T., Pearson, C. M. &lt;strong&gt;Familial myopathy with probable lysis of myofibrils in type I fibers.&lt;/strong&gt; Neurology 21: 579-585, 1971.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4104682/&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;4104682&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.21.6.579&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="4104682">Cancilla et al. (1971)</a> described a brother and sister with a congenital myopathy in which they noted probable lysis of type I myofibrils. A fine granular material that stained intensely with the myosin ATPase reaction had accumulated within the fibers. <a href="#7" class="mim-tip-reference" title="Dye, D. E., Azzarelli, B., Goebel, H. H., Laing, N. G. &lt;strong&gt;Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred.&lt;/strong&gt; Neuromusc. Disord. 16: 357-360, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16684601/&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;16684601&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.nmd.2006.03.011&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="16684601">Dye et al. (2006)</a> stated that the disease progressed over the years in the patients reported by <a href="#5" class="mim-tip-reference" title="Cancilla, P. A., Kalyanaraman, K., Verity, M. A., Munsat, T., Pearson, C. M. &lt;strong&gt;Familial myopathy with probable lysis of myofibrils in type I fibers.&lt;/strong&gt; Neurology 21: 579-585, 1971.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4104682/&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;4104682&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.21.6.579&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="4104682">Cancilla et al. (1971)</a>. The sister developed joint contractures of her limbs, severe scoliosis, and required ventilatory assistance. She died at age 25 years from bronchopneumonia after exploratory abdominal surgery for appendicitis. Her younger brother had scoliosis with fusion rod and tracheotomy at the age of 30 years. In 1 of the affected sibs originally reported by <a href="#5" class="mim-tip-reference" title="Cancilla, P. A., Kalyanaraman, K., Verity, M. A., Munsat, T., Pearson, C. M. &lt;strong&gt;Familial myopathy with probable lysis of myofibrils in type I fibers.&lt;/strong&gt; Neurology 21: 579-585, 1971.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4104682/&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;4104682&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.21.6.579&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="4104682">Cancilla et al. (1971)</a>, <a href="#7" class="mim-tip-reference" title="Dye, D. E., Azzarelli, B., Goebel, H. H., Laing, N. G. &lt;strong&gt;Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred.&lt;/strong&gt; Neuromusc. Disord. 16: 357-360, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16684601/&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;16684601&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.nmd.2006.03.011&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="16684601">Dye et al. (2006)</a> identified a heterozygous mutation in the MYH7 gene (L1793P; <a href="/entry/160760#0037">160760.0037</a>), confirming that the disease in that family was autosomal dominant myosin storage myopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16684601+4104682" 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="#6" class="mim-tip-reference" title="Ceuterick, C., Martin, J. J., Martens, C. &lt;strong&gt;Hyaline bodies in skeletal muscle of a patient with a mild chronic nonprogressive congenital myopathy.&lt;/strong&gt; Clin. Neuropath. 12: 79-83, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7682901/&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;7682901&lt;/a&gt;]" pmid="7682901">Ceuterick et al. (1993)</a> reported a 10-year-old Belgian boy with nonprogressive myopathy. Muscle biopsy showed hyaline bodies in type I fibers that stained with the myosin ATPase reaction at pH 4.2 and with polyclonal antiskeletal myosin. Immunoreactive deposits to antidesmin were observed at the border of some hyaline bodies. Ultrastructurally, the hyaline bodies were not surrounded by a limiting membrane and were only localized in subsarcolemmal areas. Periodic acid Schiff (PAS) staining for polysaccharides was negative. <a href="#11" class="mim-tip-reference" title="Laing, N. G., Ceuterick-de Groote, C., Dye, D. E., Liyanage, K., Duff, R. M., Dubois, B., Robberecht, W., Sciot, R., Martin, J.-J., Goebel, H. H. &lt;strong&gt;Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases.&lt;/strong&gt; Neurology 64: 527-529, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15699387/&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;15699387&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.WNL.0000150581.37514.30&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="15699387">Laing et al. (2005)</a> reported follow-up of this patient, who was 21 years of age and worked as an electrician. He had a nonprogressive limb-girdle myopathy since childhood, but did not show muscle weakness. Physical examination showed a thin man with high-arched palate, kyphosis, mild scapular winging, and enlarged calves. An unrelated 57-year-old Belgian woman presented at age 53 with proximal muscle weakness affecting the upper and lower limbs. She had scapular winging, hyperlordosis with a waddling gait, and weak reflexes. Neither patient had a family history of a similar disorder. Genetic analysis identified a heterozygous mutation in the MYH7 gene (R1845W; <a href="/entry/160760#0028">160760.0028</a>) in both patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15699387+7682901" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Fananapazir, L., Dalakas, M. C., Cyran, F., Cohn, G., Epstein, N. D. &lt;strong&gt;Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy.&lt;/strong&gt; Proc. Nat. Acad. Sci. 90: 3993-3997, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8483915/&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;8483915&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.90.9.3993&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="8483915">Fananapazir et al. (1993)</a> demonstrated that many patients with hypertrophic cardiomyopathy (CMH1; <a href="/entry/192600">192600</a>) due to mutation in the MYH7 gene have histologic changes on soleus muscle biopsy consistent with central core disease. A few of the patients with CMH1 they reported had 'significant muscle weakness.' Two adults and 3 children from a family with the L908V mutation (<a href="/entry/160760#0010">160760.0010</a>) in the MYH7 gene were observed to have pathologic changes in the soleus muscle with no cardiac hypertrophy as defined by echocardiogram. The histologic hallmark was the absence of mitochondria in the center of many type I fibers as revealed by light microscopic examination of NADH-stained fresh-frozen skeletal muscle sections. <a href="#13" class="mim-tip-reference" title="McKenna, W. J. &lt;strong&gt;Personal Communication.&lt;/strong&gt; London, England 5/30/1993."None>McKenna (1993)</a>, who stated that he had never seen clinical evidence of skeletal myopathy in CMH1, doubted the significance of the findings. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8483915" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Barohn, R. J., Brumback, R. A., Mendell, J. R. &lt;strong&gt;Hyaline body myopathy.&lt;/strong&gt; Neuromusc. Disord. 4: 257-262, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7522681/&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;7522681&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0960-8966(94)90027-2&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="7522681">Barohn et al. (1994)</a> reported 2 patients with sporadic hyaline body myopathy since infancy: a 40-year-old male and a 3-year-old female. Both had numerous subsarcolemmal glassy, hyaline bodies in 20 to 30% of type I muscle fibers. The hyaline bodies stained negative for PAS and oxidative enzymes, contained amorphous granular material, but were not contained within a membrane. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7522681" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Masuzugawa, S., Kuzuhara, S., Narita, Y., Naito, Y., Taniguchi, A., Ibi, T. &lt;strong&gt;Autosomal dominant hyaline body myopathy presenting as scapuloperoneal syndrome: clinical features and muscle pathology.&lt;/strong&gt; Neurology 48: 253-257, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9008527/&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;9008527&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.48.1.253&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="9008527">Masuzugawa et al. (1997)</a> reported a family in which 7 members over 4 generations developed slowly progressive scapuloperoneal muscle weakness and atrophy with an age at onset ranging from the first to fifth decade. Muscle biopsy of 2 patients showed subsarcolemmal hyaline bodies in approximately 20% of type I fibers. The hyaline bodies showed myofibrillar ATPase activity and stained intensely with antibodies to slow myosin heavy chain. Ultrastructurally, the hyaline bodies consisted of granules in linear array, filaments, or amorphous materials. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9008527" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Bohlega, S., Lach, B., Meyer, B. F., Al Said, Y., Kambouris, M., Al Homsi, M., Cupler, E. J. &lt;strong&gt;Autosomal dominant hyaline body myopathy: clinical variability and pathologic findings.&lt;/strong&gt; Neurology 61: 1519-1523, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14663035/&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;14663035&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.wnl.0000096022.09887.9d&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="14663035">Bohlega et al. (2003)</a> reported a Saudi Arabian kindred in which 11 members, including a mother, her father, and 8 of her 13 children, were affected with hyaline body myopathy inherited in an autosomal dominant pattern. The phenotype was clinically heterogeneous. Most patients had symptom onset by 2 years of age with proximal muscle weakness of the lower limbs resulting in difficulty walking; 1 patient had onset at age 12 years. The 47-year-old mother had onset at age 42 years and showed a rapidly progressive course with loss of ambulation at age 45. Some patients had proximal muscle weakness of the upper limbs, resulting in scapular winging, and some had distal muscle weakness of the lower limbs, causing foot drop. More variable features included positive Gowers sign, thin habitus with decreased subcutaneous fat, pectus excavatum, high-arched palate, scoliosis, calf pseudohypertrophy, and restrictive lung disease. Besides the mother, only 1 patient lost ambulation, at age 18. Serum creatine kinase was elevated in all patients. <a href="#4" class="mim-tip-reference" title="Bohlega, S., Lach, B., Meyer, B. F., Al Said, Y., Kambouris, M., Al Homsi, M., Cupler, E. J. &lt;strong&gt;Autosomal dominant hyaline body myopathy: clinical variability and pathologic findings.&lt;/strong&gt; Neurology 61: 1519-1523, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14663035/&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;14663035&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.wnl.0000096022.09887.9d&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="14663035">Bohlega et al. (2003)</a> noted 2 disease patterns: a nonprogressive minimal generalized muscle wasting and weakness since childhood, and a relentlessly progressive weakness starting at age 2 years with proximal arm and hand weakness, scapular winging, and severe functional impairment. Muscle biopsies showed subsarcolemmal hyaline bodies in type I fibers that were positive for ATPase and heavy chain slow myosin. Ultrastructurally, the hyaline bodies were granular and filamentous or amorphous, surrounded by disorganized sarcomeres. There were also many signs of myopathy, including fiber-type grouping, angulated fibers, fiber necrosis, fibrosis, and central nucleation. In affected members of the family reported by <a href="#4" class="mim-tip-reference" title="Bohlega, S., Lach, B., Meyer, B. F., Al Said, Y., Kambouris, M., Al Homsi, M., Cupler, E. J. &lt;strong&gt;Autosomal dominant hyaline body myopathy: clinical variability and pathologic findings.&lt;/strong&gt; Neurology 61: 1519-1523, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14663035/&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;14663035&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.wnl.0000096022.09887.9d&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="14663035">Bohlega et al. (2003)</a>, <a href="#3" class="mim-tip-reference" title="Bohlega, S., Abu-Amero, S. N., Wakil, S. M., Carroll, P., Al-Amr, R., Lach, B., Al-Sayed, Y., Cupler, E. J., Meyer, B. F. &lt;strong&gt;Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy.&lt;/strong&gt; Neurology 62: 1518-1521, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15136674/&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;15136674&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.wnl.0000123255.92062.37&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="15136674">Bohlega et al. (2004)</a> identified a heterozygous mutation in the MYH7 gene (H1904L; <a href="/entry/160760#0031">160760.0031</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14663035+15136674" 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="#21" class="mim-tip-reference" title="Tajsharghi, H., Thornell, L.-E., Lindberg, C., Lindvall, B., Henriksson, K.-G., Oldfors, A. &lt;strong&gt;Myosin storage myopathy associated with a heterozygous missense mutation in MYH7.&lt;/strong&gt; Ann. Neurol. 54: 494-500, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14520662/&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;14520662&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ana.10693&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="14520662">Tajsharghi et al. (2003)</a> reported a patient with slowly progressive muscle weakness since childhood, when his gait was affected by hip weakness, but he was able to climb stairs and even run. He also had shoulder girdle weakness, bilateral winging of the scapulae, and pseudohypertrophy of the calves. By age 71 years, he was severely weak in the proximal muscles and moderately weak in the distal muscles. Lung vital capacity was 57% of normal, serum creatine kinase was elevated, and EMG findings were consistent with a myopathy. There were no signs of cardiomyopathy clinically or by imaging, although he did have atrial fibrillation. His mother had had similar symptoms, with hip and shoulder girdle weakness, as well as atrial fibrillation. One of 3 children (a daughter) of the proband was also affected. <a href="#21" class="mim-tip-reference" title="Tajsharghi, H., Thornell, L.-E., Lindberg, C., Lindvall, B., Henriksson, K.-G., Oldfors, A. &lt;strong&gt;Myosin storage myopathy associated with a heterozygous missense mutation in MYH7.&lt;/strong&gt; Ann. Neurol. 54: 494-500, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14520662/&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;14520662&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ana.10693&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="14520662">Tajsharghi et al. (2003)</a> also reported an unrelated 33-year-old woman with a similar phenotype, including waddling gait, winging of the scapulae, pseudohypertrophy of the calves, and normal cardiac findings. None of her family members was affected. Muscle biopsy in the proband of the first family showed type 1 fiber predominance and increased interstitial fat and connective tissue. Inclusion bodies consisting of the beta cardiac myosin heavy chain were present in the majority of type 1 fibers, but not in type 2 fibers. The authors termed the disorder 'myosin storage myopathy.' In affected members of a family and in an unrelated patient with CMYO7A, <a href="#21" class="mim-tip-reference" title="Tajsharghi, H., Thornell, L.-E., Lindberg, C., Lindvall, B., Henriksson, K.-G., Oldfors, A. &lt;strong&gt;Myosin storage myopathy associated with a heterozygous missense mutation in MYH7.&lt;/strong&gt; Ann. Neurol. 54: 494-500, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14520662/&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;14520662&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ana.10693&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="14520662">Tajsharghi et al. (2003)</a> identified a heterozygous mutation in the MYH7 gene (R1845W; <a href="/entry/160760#0028">160760.0028</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14520662" 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="#19" class="mim-tip-reference" title="Sobrido, M. J., Fernandez, J. M., Fontoira, E., Perez-Sousa, C., Cabello, A., Castro, M., Teijeira, S., Alvarez, S., Mederer, S., Rivas, E., Seijo-Martinez, M., Navarro, C. &lt;strong&gt;Autosomal dominant congenital fibre type disproportion: a clinicopathological and imaging study of a large family.&lt;/strong&gt; Brain 128: 1716-1727, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15857933/&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;15857933&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/brain/awh511&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="15857933">Sobrido et al. (2005)</a> reported a large Spanish family with a congenital myopathy inherited in an autosomal dominant pattern. Seven of 25 examined family members were affected. Onset of slowly progressive muscle weakness was in early childhood, manifest by clumsiness and difficulty running, climbing stairs, and getting up from the floor. As adults, all retained independent ambulation but demonstrated waddling gait, proximal upper and lower extremity weakness and atrophy, weakness of foot dorsiflexors, and hypo- or areflexia. Notably, none of the affected individuals had neonatal respiratory or sucking difficulties. MRI studies showed loss of volume and fatty infiltration of proximal muscles; EMG showed myopathic changes. Skeletal muscle biopsies of 2 affected individuals showed characteristic findings of CFTD without dystrophic changes. No mutations were identified in the coding sequence of the ACTA1 gene (<a href="/entry/102610">102610</a>). <a href="#14" class="mim-tip-reference" title="Ortolano, S., Tarrio, R., Blanco-Arias, P., Teijeira, S., Rodriguez-Trelles, F., Garcia-Murias, M., Delague, V., Levy, N., Fernandez, J. M., Quintans, B., Millan, B. S., Carracedo, A., Navarro, C., Sobrido, M.-J. &lt;strong&gt;A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy.&lt;/strong&gt; Neuromusc. Disord. 21: 254-262, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21288719/&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;21288719&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.nmd.2010.12.011&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="21288719">Ortolano et al. (2011)</a> reported follow-up of the family reported by <a href="#19" class="mim-tip-reference" title="Sobrido, M. J., Fernandez, J. M., Fontoira, E., Perez-Sousa, C., Cabello, A., Castro, M., Teijeira, S., Alvarez, S., Mederer, S., Rivas, E., Seijo-Martinez, M., Navarro, C. &lt;strong&gt;Autosomal dominant congenital fibre type disproportion: a clinicopathological and imaging study of a large family.&lt;/strong&gt; Brain 128: 1716-1727, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15857933/&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;15857933&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/brain/awh511&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="15857933">Sobrido et al. (2005)</a>, noting that there were 12 affected members spanning 5 generations. The patients had an early-onset, slowly progressive predominantly proximal myopathy with mild distal involvement and no signs of cardiomyopathy. Skeletal muscle samples were available from 3 patients (at ages 25, 43, and 62). All showed features of CFTD, and the oldest patient demonstrated subsarcolemmal hyaline accumulation in type 1 muscle fibers, suggesting that the pathologic findings can change over time. Genetic analysis of this family identified a heterozygous mutation in the MYH7 gene (<a href="/entry/160760#0048">160760.0048</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21288719+15857933" 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="#15" class="mim-tip-reference" title="Pegoraro, E., Gavassini, B. F., Borsato, C., Melacini, P., Vianello, A., Stramere, R., Cenacchi, G., Angelini, C. &lt;strong&gt;MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy.&lt;/strong&gt; Neuromusc. Disord. 17: 321-329, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17336526/&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;17336526&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.nmd.2007.01.010&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="17336526">Pegoraro et al. (2007)</a> reported a large multigenerational family (family A) in which 9 individuals had variable manifestations of CMYO7A associated with a heterozygous missense mutation in the MYH7 gene (R1845W; <a href="/entry/160760#0028">160760.0028</a>). The proband was a 66-year-old man with a history of progressive weakness since childhood, delayed motor development, and clumsiness. At age 62, he had proximal muscle weakness and atrophy of the upper and lower limbs, a waddling gait, foot drop, pes cavus, scapular winging, and weakness of the anterior compartment of the distal leg. Muscle biopsy showed nonspecific myopathic changes, and he was diagnosed with scapuloperoneal myopathy. His 35-year-old niece had slowly progressive muscle weakness in the upper limbs since 7 to 8 years of age. As an adult, she had proximal muscle weakness of the upper and lower limbs, distal lower limb weakness, a waddling gait, foot drop, scapular winging, pes cavus, and quadriceps and calf hypertrophy. Muscle biopsy showed type 1 fiber predominance and hyaline bodies in type 1 fibers. Serum creatine kinase was elevated in both patients. Other family members with the mutation showed weakness of the upper and/or lower limbs with a variable age at onset ranging from childhood to adulthood. Many had scapular winging and pes cavus. Muscle MRI identified a unique pattern in the posterior compartment of the thigh, characterized by early involvement of the biceps femoris and semimembranosus, with relative sparing of the semitendinosus; distal leg muscles and upper limb muscles were also affected. Disease progression was slow, and all remained ambulatory. Four mutation carriers were asymptomatic at ages 29 to 43 years, but examination showed subtle features of the disease, including hyperCKemia. <a href="#15" class="mim-tip-reference" title="Pegoraro, E., Gavassini, B. F., Borsato, C., Melacini, P., Vianello, A., Stramere, R., Cenacchi, G., Angelini, C. &lt;strong&gt;MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy.&lt;/strong&gt; Neuromusc. Disord. 17: 321-329, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17336526/&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;17336526&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.nmd.2007.01.010&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="17336526">Pegoraro et al. (2007)</a> also identified 2 members of another family (family B) with adult-onset of proximal and distal muscle weakness affecting the upper and lower limbs consistent with scapuloperoneal myopathy; hyaline bodies were found in the muscle biopsy of one. Genetic analysis in family B showed a heterozygous R1845W mutation in the MYH7 gene. The findings indicated that the absence of hyaline bodies in muscle biopsies does not rule out MYH7 gene mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17336526" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a mother with myosin storage myopathy, who later developed hypertrophic cardiomyopathy (CMH1; <a href="/entry/192600">192600</a>), and in her daughter, who had early-symptomatic left ventricular noncompaction (LVNC5; <a href="/entry/613426">613426</a>), <a href="#24" class="mim-tip-reference" title="Uro-Coste, E., Arne-Bes, M.-C., Pellissier, J.-F., Richard, P., Levade, T., Heitz, F., Figarella-Branger, D., Delisle, M.-B. &lt;strong&gt;Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 leu1793pro mutation.&lt;/strong&gt; Neuromusc. Disord. 19: 163-166, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19138847/&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;19138847&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.nmd.2008.11.012&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="19138847">Uro-Coste et al. (2009)</a> identified heterozygosity for a missense mutation in the MYH7 gene (L1793P; <a href="/entry/160760#0037">160760.0037</a>) The mother presented at age 30 years with proximal muscle weakness, which progressed to the point of her being wheelchair-bound by 48 years of age. At age 51, she was diagnosed with CMH. Skeletal muscle biopsy at age 53 showed subsarcolemmal accumulation of hyaline material in type 1 fibers. Her 24-year-old daughter presented with heart failure at 3 months of age and was diagnosed with early-onset cardiomyopathy. Angiography revealed a less-contractile, irregular 'spongiotic' wall in the inferior left ventricle, and echocardiography confirmed the diagnosis of LVNC. The daughter did not complain of muscle weakness, but clinical examination revealed bilateral wasting of the distal leg anterior compartment and she had some difficulty with heel-walking. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19138847" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of CMYO7A in the kindred reported by <a href="#4" class="mim-tip-reference" title="Bohlega, S., Lach, B., Meyer, B. F., Al Said, Y., Kambouris, M., Al Homsi, M., Cupler, E. J. &lt;strong&gt;Autosomal dominant hyaline body myopathy: clinical variability and pathologic findings.&lt;/strong&gt; Neurology 61: 1519-1523, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14663035/&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;14663035&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.wnl.0000096022.09887.9d&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="14663035">Bohlega et al. (2003)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14663035" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a review, <a href="#20" class="mim-tip-reference" title="Tajsharghi, H., Oldfors, A. &lt;strong&gt;Myosinopathies: pathology and mechanisms.&lt;/strong&gt; Acta Neuropath. 125: 3-18, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22918376/&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;22918376&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=22918376[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/10.1007/s00401-012-1024-2&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="22918376">Tajsharghi and Oldfors (2013)</a> noted that mutations in CMYO7A and CMYO7B are usually found in the distal rod region of the MYH7 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22918376" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of a family and in an unrelated patient with CMYO7A, <a href="#21" class="mim-tip-reference" title="Tajsharghi, H., Thornell, L.-E., Lindberg, C., Lindvall, B., Henriksson, K.-G., Oldfors, A. &lt;strong&gt;Myosin storage myopathy associated with a heterozygous missense mutation in MYH7.&lt;/strong&gt; Ann. Neurol. 54: 494-500, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14520662/&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;14520662&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ana.10693&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="14520662">Tajsharghi et al. (2003)</a> identified a heterozygous mutation in the MYH7 gene (R1845W; <a href="/entry/160760#0028">160760.0028</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14520662" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of a Saudi Arabian family with autosomal dominant CMYO7A <a href="#4" class="mim-tip-reference" title="Bohlega, S., Lach, B., Meyer, B. F., Al Said, Y., Kambouris, M., Al Homsi, M., Cupler, E. J. &lt;strong&gt;Autosomal dominant hyaline body myopathy: clinical variability and pathologic findings.&lt;/strong&gt; Neurology 61: 1519-1523, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14663035/&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;14663035&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.wnl.0000096022.09887.9d&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="14663035">Bohlega et al. (2003)</a>, <a href="#3" class="mim-tip-reference" title="Bohlega, S., Abu-Amero, S. N., Wakil, S. M., Carroll, P., Al-Amr, R., Lach, B., Al-Sayed, Y., Cupler, E. J., Meyer, B. F. &lt;strong&gt;Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy.&lt;/strong&gt; Neurology 62: 1518-1521, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15136674/&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;15136674&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.wnl.0000123255.92062.37&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="15136674">Bohlega et al. (2004)</a> identified a heterozygous mutation in the MYH7 gene (H1904L; <a href="/entry/160760#0031">160760.0031</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14663035+15136674" 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 Belgian patient with myosin storage myopathy, originally reported by <a href="#6" class="mim-tip-reference" title="Ceuterick, C., Martin, J. J., Martens, C. &lt;strong&gt;Hyaline bodies in skeletal muscle of a patient with a mild chronic nonprogressive congenital myopathy.&lt;/strong&gt; Clin. Neuropath. 12: 79-83, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7682901/&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;7682901&lt;/a&gt;]" pmid="7682901">Ceuterick et al. (1993)</a>, <a href="#11" class="mim-tip-reference" title="Laing, N. G., Ceuterick-de Groote, C., Dye, D. E., Liyanage, K., Duff, R. M., Dubois, B., Robberecht, W., Sciot, R., Martin, J.-J., Goebel, H. H. &lt;strong&gt;Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases.&lt;/strong&gt; Neurology 64: 527-529, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15699387/&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;15699387&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.WNL.0000150581.37514.30&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="15699387">Laing et al. (2005)</a> identified a heterozygous mutation in the MYH7 gene (R1845W; <a href="/entry/160760#0028">160760.0028</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15699387+7682901" 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 1 of the affected sibs with congenital myopathy originally reported by <a href="#5" class="mim-tip-reference" title="Cancilla, P. A., Kalyanaraman, K., Verity, M. A., Munsat, T., Pearson, C. M. &lt;strong&gt;Familial myopathy with probable lysis of myofibrils in type I fibers.&lt;/strong&gt; Neurology 21: 579-585, 1971.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4104682/&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;4104682&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.21.6.579&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="4104682">Cancilla et al. (1971)</a>, <a href="#7" class="mim-tip-reference" title="Dye, D. E., Azzarelli, B., Goebel, H. H., Laing, N. G. &lt;strong&gt;Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred.&lt;/strong&gt; Neuromusc. Disord. 16: 357-360, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16684601/&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;16684601&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.nmd.2006.03.011&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="16684601">Dye et al. (2006)</a> identified a heterozygous mutation in the MYH7 gene (L1793P; <a href="/entry/160760#0037">160760.0037</a>), confirming that the disease in that family was autosomal dominant myosin storage myopathy. <a href="#7" class="mim-tip-reference" title="Dye, D. E., Azzarelli, B., Goebel, H. H., Laing, N. G. &lt;strong&gt;Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred.&lt;/strong&gt; Neuromusc. Disord. 16: 357-360, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16684601/&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;16684601&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.nmd.2006.03.011&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="16684601">Dye et al. (2006)</a> noted that contact with the family had been lost and DNA studies were performed on archival postmortem sections from the affected sister who died at age 25 years. The sibs presumably had the disease because of gonadal mosaicism in 1 of the unaffected parents, although this could not be confirmed. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16684601+4104682" 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 large multigenerational family (family A) in which 9 individuals had variable manifestations of CMYO7A, <a href="#15" class="mim-tip-reference" title="Pegoraro, E., Gavassini, B. F., Borsato, C., Melacini, P., Vianello, A., Stramere, R., Cenacchi, G., Angelini, C. &lt;strong&gt;MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy.&lt;/strong&gt; Neuromusc. Disord. 17: 321-329, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17336526/&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;17336526&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.nmd.2007.01.010&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="17336526">Pegoraro et al. (2007)</a> identified a heterozygous missense mutation in the MYH7 gene (R1845W; <a href="/entry/160760#0028">160760.0028</a>). Two affected members of another family (family B) carried the same heterozygous mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17336526" 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 12 affected members of a 5-generation Spanish family previously reported by <a href="#19" class="mim-tip-reference" title="Sobrido, M. J., Fernandez, J. M., Fontoira, E., Perez-Sousa, C., Cabello, A., Castro, M., Teijeira, S., Alvarez, S., Mederer, S., Rivas, E., Seijo-Martinez, M., Navarro, C. &lt;strong&gt;Autosomal dominant congenital fibre type disproportion: a clinicopathological and imaging study of a large family.&lt;/strong&gt; Brain 128: 1716-1727, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15857933/&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;15857933&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/brain/awh511&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="15857933">Sobrido et al. (2005)</a> with CMYO7A, <a href="#14" class="mim-tip-reference" title="Ortolano, S., Tarrio, R., Blanco-Arias, P., Teijeira, S., Rodriguez-Trelles, F., Garcia-Murias, M., Delague, V., Levy, N., Fernandez, J. M., Quintans, B., Millan, B. S., Carracedo, A., Navarro, C., Sobrido, M.-J. &lt;strong&gt;A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy.&lt;/strong&gt; Neuromusc. Disord. 21: 254-262, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21288719/&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;21288719&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.nmd.2010.12.011&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="21288719">Ortolano et al. (2011)</a> identified a heterozygous mutation in the C-terminal region of the MYH7 gene (<a href="/entry/160760#0048">160760.0048</a>). The mutation, which was found by a combination of linkage analysis and candidate gene sequencing, segregated with the disorder in the family. It was not present in 202 population controls. Two skeletal muscle samples studied had normal expression of type I and II myosin heavy chains, but only a younger patient showed decreased MYH7 transcript levels compared to controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21288719+15857933" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#10" class="mim-tip-reference" title="Goebel, H. H., Warlo, I. A. P. &lt;strong&gt;Surplus protein myopathies.&lt;/strong&gt; Neuromusc. Disord. 11: 3-6, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11166159/&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;11166159&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0960-8966(00)00165-6&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="11166159">Goebel and Warlo (2001)</a> suggested that hyaline body myopathy may be related to a surplus of proteins present in a granular or filamentous form. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11166159" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Armel, T. Z., Leinwand, L. A. &lt;strong&gt;Mutations in the alpha-myosin rod cause myosin storage myopathy via multiple mechanisms.&lt;/strong&gt; Proc. Nat. Acad. Sci. 106: 6291-6296, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19336582/&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;19336582&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19336582[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/10.1073/pnas.0900107106&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="19336582">Armel and Leinwand (2009)</a> analyzed the functional effects of 4 different MYH7 mutations in the rod or tail domain that were found to be responsible for myosin storage myopathy: R1845W (<a href="/entry/160760#0028">160760.0028</a>), H1901L (<a href="/entry/160760#0031">160760.0031</a>), E1886K (<a href="/entry/160760#0035">160760.0035</a>), and L1793P (<a href="/entry/160760#0037">160760.0037</a>). None of the mutations altered the secondary structure of the protein, but L1793P and H1901L showed decreased thermodynamic stability. All mutations decreased the extent of self-assembly of the light meromyosin rod (less than 50 to 60%) compared to the wildtype protein. R1845W and H1901L showed formation of more stable and larger filaments, whereas L1793P and E1886K showed more rapid filament degradation. <a href="#1" class="mim-tip-reference" title="Armel, T. Z., Leinwand, L. A. &lt;strong&gt;Mutations in the alpha-myosin rod cause myosin storage myopathy via multiple mechanisms.&lt;/strong&gt; Proc. Nat. Acad. Sci. 106: 6291-6296, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19336582/&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;19336582&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19336582[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/10.1073/pnas.0900107106&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="19336582">Armel and Leinwand (2009)</a> noted that the assembly of muscle filaments is a multistep process that involves both the proper folding of alpha-helices into coiled-coils, and the assembly of these coiled-coils, in proper register, into filaments, and concluded that defects in any one of these steps can result in improper filament formation leading to muscle disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19336582" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Scapuloperoneal syndrome was initially described by Jules Broussard (1886) as 'une forme hereditaire d'atrophie musculaire progressive' beginning in the lower legs and affecting the shoulder region earlier and more severely than distal arm.</p><p><a href="#23" class="mim-tip-reference" title="Thomas, P. K., Schott, G. D., Morgan-Hughes, J. A. &lt;strong&gt;Adult onset scapuloperoneal myopathy.&lt;/strong&gt; J. Neurol. Neurosurg. Psychiat. 38: 1008-1015, 1975.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1202162/&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;1202162&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jnnp.38.10.1008&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="1202162">Thomas et al. (1975)</a> described 6 cases of adult-onset scapuloperoneal myopathy. Four were apparently sporadic. The other 2 cases occurred in mother and daughter. Progression was relatively slow. Electromyography and muscle biopsy showed myopathic changes in all. Facial involvement occurred in some. The authors considered that the disorder resembled that described by <a href="#16" class="mim-tip-reference" title="Ricker, K., Mertens, H.-G. &lt;strong&gt;The differential diagnosis of the myogenic (facio)-scapulo-peroneal syndrome.&lt;/strong&gt; Europ. Neurol. 1: 275-307, 1968.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5696602/&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;5696602&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1159/000113669&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="5696602">Ricker and Mertens (1968)</a> and <a href="#18" class="mim-tip-reference" title="Serratrice, G., Roux, H., Aquaron, R., Gambarelli, D., Baret, J. &lt;strong&gt;Myopathies scapuloperonieres. A propos de 14 observations dont 8 avec atteinte faciale.&lt;/strong&gt; Sem. Hop. Paris 45: 2678-2683, 1969.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4311337/&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;4311337&lt;/a&gt;]" pmid="4311337">Serratrice et al. (1969)</a>. The latter group observed 9 cases in which autosomal dominant inheritance was suggested. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4311337+1202162+5696602" 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="#17" class="mim-tip-reference" title="Sahgal, V., Sahgal, S. &lt;strong&gt;A new congenital myopathy.&lt;/strong&gt; Acta Neuropath. 37: 225-230, 1977.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/193343/&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;193343&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00686883&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="193343">Sahgal and Sahgal (1977)</a> reported a patient with sporadic nonprogressive congenital myopathy with weakness and atrophy of the scapuloperoneal muscles. Muscle biopsy showed preferential atrophy of type I muscle fibers and subsarcolemmal bodies composed of an acid protein with ATPase activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=193343" 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="#9" class="mim-tip-reference" title="Goebel, H. H., Schloon, H., Lenard, H. G. &lt;strong&gt;Congenital myopathy with cytoplasmic bodies.&lt;/strong&gt; Neuropediatrics 12: 166-180, 1981.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6267501/&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;6267501&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1055/s-2008-1059649&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="6267501">Goebel et al. (1981)</a> reported a 15-year-old girl with proximal muscle weakness since infancy. Milder distal muscle weakness was also present. Quadriceps muscle biopsy showed a predominance of type I muscle fibers with 'cytoplasmic bodies.' There was no family history. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6267501" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#22" class="mim-tip-reference" title="Tawil, R., Myers, G. J., Weiffenbach, B., Griggs, R. C. &lt;strong&gt;Scapuloperoneal syndromes: absence of linkage of the 4q35 FSHD locus.&lt;/strong&gt; Arch. Neurol. 52: 1069-1072, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7487558/&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;7487558&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archneur.1995.00540350055017&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="7487558">Tawil et al. (1995)</a> described 4 individuals in 2 generations, 1 female and 3 males, affected with a scapuloperoneal myopathy. There was male-to-male transmission. Electromyography demonstrated small polyphasic units, and muscle biopsy demonstrated necrotic and regenerating fibers as well as an increase in endomesial connective tissue, demonstrating this to be a myopathy. Although the index case fulfilled the diagnostic criteria for facioscapulohumeral dystrophy (<a href="/entry/158900">158900</a>), none of the other 3 affected individuals demonstrated facial weakness. Furthermore, linkage to markers on 4q35 was excluded, demonstrating this to be a distinct genetic entity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7487558" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="Armel2009" class="mim-anchor"></a>
<div class="">
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[<a href="https://doi.org/10.1073/pnas.0900107106" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0960-8966(94)90027-2" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000123255.92062.37" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000096022.09887.9d" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/wnl.21.6.579" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/j.nmd.2006.03.011" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.90.9.3993" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1055/s-2008-1059649" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0960-8966(00)00165-6" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/01.WNL.0000150581.37514.30" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/wnl.48.1.253" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/j.nmd.2010.12.011" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/j.nmd.2007.01.010" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1159/000113669" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00686883" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/brain/awh511" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s00401-012-1024-2" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ana.10693" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archneur.1995.00540350055017" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jnnp.38.10.1008" target="_blank">Full Text</a>]
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<strong>Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 leu1793pro mutation.</strong>
Neuromusc. Disord. 19: 163-166, 2009.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19138847/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19138847</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19138847" 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.2008.11.012" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 03/08/2023
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Marla J. F. O'Neill - updated : 6/7/2010<br>Cassandra L. Kniffin - updated : 10/14/2009<br>Cassandra L. Kniffin - updated : 6/9/2005<br>Cassandra L. Kniffin - updated : 1/25/2005
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Cassandra L. Kniffin : 12/22/2003
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alopez : 07/16/2024
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alopez : 03/10/2023<br>alopez : 03/08/2023<br>ckniffin : 03/08/2023<br>carol : 02/20/2023<br>carol : 08/05/2021<br>carol : 10/20/2016<br>carol : 12/28/2015<br>carol : 6/9/2015<br>carol : 6/9/2015<br>mcolton : 6/2/2015<br>ckniffin : 6/2/2015<br>carol : 9/23/2014<br>ckniffin : 11/8/2010<br>carol : 6/7/2010<br>wwang : 10/26/2009<br>ckniffin : 10/14/2009<br>carol : 3/6/2009<br>carol : 3/6/2009<br>terry : 12/21/2005<br>ckniffin : 6/30/2005<br>wwang : 6/14/2005<br>ckniffin : 6/9/2005<br>ckniffin : 1/25/2005<br>ckniffin : 7/16/2004<br>tkritzer : 12/31/2003<br>ckniffin : 12/24/2003
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<strong>#</strong> 608358
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CONGENITAL MYOPATHY 7A, MYOSIN STORAGE, AUTOSOMAL DOMINANT; CMYO7A
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<em>Alternative titles; symbols</em>
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MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT; MSMA<br />
MYOPATHY, HYALINE BODY, AUTOSOMAL DOMINANT<br />
MYOPATHY WITH LYSIS OF TYPE I MYOFIBRILS<br />
SCAPULOPERONEAL MYOPATHY, MYH7-RELATED; SPMM<br />
SCAPULOPERONEAL MUSCULAR DYSTROPHY; SPMD<br />
SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE
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<strong>SNOMEDCT:</strong> 129620000; &nbsp;
<strong>ICD10CM:</strong> G71.09; &nbsp;
<strong>ORPHA:</strong> 53698, 636965; &nbsp;
<strong>DO:</strong> 0111269; &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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14q11.2
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Congenital myopathy 7A, myosin storage, autosomal dominant
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608358
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Autosomal dominant
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3
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MYH7
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160760
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that autosomal dominant myosin storage congenital myopathy-7A (CMYO7A) is caused by heterozygous mutation in the MYH7 gene (160760) on chromosome 14q11.</p><p>Biallelic mutation in the MYH7 gene causes autosomal recessive myosin storage congenital myopathy-7B (CMYO7B; 255160).</p>
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<strong>Description</strong>
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<p>Autosomal dominant myosin storage congenital myopathy-7A (CMYO7A) is a skeletal muscle disorder with wide phenotypic variability. The age at symptom onset can range from early childhood to late adulthood. Affected individuals have proximal muscle weakness affecting the upper and lower limbs and distal muscle weakness of the lower limbs, resulting in gait difficulties and scapular winging (scapuloperoneal myopathy). Additional features may include thin habitus, high-arched palate, foot drop, pes cavus, calf pseudohypertrophy, and decreased reflexes. The severity is also variable: some patients develop respiratory insufficiency, joint contractures, and scoliosis in the first decades, whereas others are clinically unaffected, but show subtle signs of the disorder on examination. Serum creatine kinase may be normal or elevated. The disease is usually slowly progressive and most patients remain ambulatory. Skeletal muscle biopsy can show different abnormalities, including hyaline bodies, type 1 fiber predominance, congenital fiber-type disproportion (CFTD), and nonspecific myopathic changes with myofibrillar disarray. Intrafamilial variability is common (Dye et al., 2006; Pegoraro et al., 2007; review by Tajsharghi and Oldfors, 2013). </p><p>For a discussion of genetic heterogeneity of congenital myopathy, see CMYO1A (117000).</p>
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<strong>Clinical Features</strong>
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<p>Cancilla et al. (1971) described a brother and sister with a congenital myopathy in which they noted probable lysis of type I myofibrils. A fine granular material that stained intensely with the myosin ATPase reaction had accumulated within the fibers. Dye et al. (2006) stated that the disease progressed over the years in the patients reported by Cancilla et al. (1971). The sister developed joint contractures of her limbs, severe scoliosis, and required ventilatory assistance. She died at age 25 years from bronchopneumonia after exploratory abdominal surgery for appendicitis. Her younger brother had scoliosis with fusion rod and tracheotomy at the age of 30 years. In 1 of the affected sibs originally reported by Cancilla et al. (1971), Dye et al. (2006) identified a heterozygous mutation in the MYH7 gene (L1793P; 160760.0037), confirming that the disease in that family was autosomal dominant myosin storage myopathy. </p><p>Ceuterick et al. (1993) reported a 10-year-old Belgian boy with nonprogressive myopathy. Muscle biopsy showed hyaline bodies in type I fibers that stained with the myosin ATPase reaction at pH 4.2 and with polyclonal antiskeletal myosin. Immunoreactive deposits to antidesmin were observed at the border of some hyaline bodies. Ultrastructurally, the hyaline bodies were not surrounded by a limiting membrane and were only localized in subsarcolemmal areas. Periodic acid Schiff (PAS) staining for polysaccharides was negative. Laing et al. (2005) reported follow-up of this patient, who was 21 years of age and worked as an electrician. He had a nonprogressive limb-girdle myopathy since childhood, but did not show muscle weakness. Physical examination showed a thin man with high-arched palate, kyphosis, mild scapular winging, and enlarged calves. An unrelated 57-year-old Belgian woman presented at age 53 with proximal muscle weakness affecting the upper and lower limbs. She had scapular winging, hyperlordosis with a waddling gait, and weak reflexes. Neither patient had a family history of a similar disorder. Genetic analysis identified a heterozygous mutation in the MYH7 gene (R1845W; 160760.0028) in both patients. </p><p>Fananapazir et al. (1993) demonstrated that many patients with hypertrophic cardiomyopathy (CMH1; 192600) due to mutation in the MYH7 gene have histologic changes on soleus muscle biopsy consistent with central core disease. A few of the patients with CMH1 they reported had 'significant muscle weakness.' Two adults and 3 children from a family with the L908V mutation (160760.0010) in the MYH7 gene were observed to have pathologic changes in the soleus muscle with no cardiac hypertrophy as defined by echocardiogram. The histologic hallmark was the absence of mitochondria in the center of many type I fibers as revealed by light microscopic examination of NADH-stained fresh-frozen skeletal muscle sections. McKenna (1993), who stated that he had never seen clinical evidence of skeletal myopathy in CMH1, doubted the significance of the findings. </p><p>Barohn et al. (1994) reported 2 patients with sporadic hyaline body myopathy since infancy: a 40-year-old male and a 3-year-old female. Both had numerous subsarcolemmal glassy, hyaline bodies in 20 to 30% of type I muscle fibers. The hyaline bodies stained negative for PAS and oxidative enzymes, contained amorphous granular material, but were not contained within a membrane. </p><p>Masuzugawa et al. (1997) reported a family in which 7 members over 4 generations developed slowly progressive scapuloperoneal muscle weakness and atrophy with an age at onset ranging from the first to fifth decade. Muscle biopsy of 2 patients showed subsarcolemmal hyaline bodies in approximately 20% of type I fibers. The hyaline bodies showed myofibrillar ATPase activity and stained intensely with antibodies to slow myosin heavy chain. Ultrastructurally, the hyaline bodies consisted of granules in linear array, filaments, or amorphous materials. </p><p>Bohlega et al. (2003) reported a Saudi Arabian kindred in which 11 members, including a mother, her father, and 8 of her 13 children, were affected with hyaline body myopathy inherited in an autosomal dominant pattern. The phenotype was clinically heterogeneous. Most patients had symptom onset by 2 years of age with proximal muscle weakness of the lower limbs resulting in difficulty walking; 1 patient had onset at age 12 years. The 47-year-old mother had onset at age 42 years and showed a rapidly progressive course with loss of ambulation at age 45. Some patients had proximal muscle weakness of the upper limbs, resulting in scapular winging, and some had distal muscle weakness of the lower limbs, causing foot drop. More variable features included positive Gowers sign, thin habitus with decreased subcutaneous fat, pectus excavatum, high-arched palate, scoliosis, calf pseudohypertrophy, and restrictive lung disease. Besides the mother, only 1 patient lost ambulation, at age 18. Serum creatine kinase was elevated in all patients. Bohlega et al. (2003) noted 2 disease patterns: a nonprogressive minimal generalized muscle wasting and weakness since childhood, and a relentlessly progressive weakness starting at age 2 years with proximal arm and hand weakness, scapular winging, and severe functional impairment. Muscle biopsies showed subsarcolemmal hyaline bodies in type I fibers that were positive for ATPase and heavy chain slow myosin. Ultrastructurally, the hyaline bodies were granular and filamentous or amorphous, surrounded by disorganized sarcomeres. There were also many signs of myopathy, including fiber-type grouping, angulated fibers, fiber necrosis, fibrosis, and central nucleation. In affected members of the family reported by Bohlega et al. (2003), Bohlega et al. (2004) identified a heterozygous mutation in the MYH7 gene (H1904L; 160760.0031). </p><p>Tajsharghi et al. (2003) reported a patient with slowly progressive muscle weakness since childhood, when his gait was affected by hip weakness, but he was able to climb stairs and even run. He also had shoulder girdle weakness, bilateral winging of the scapulae, and pseudohypertrophy of the calves. By age 71 years, he was severely weak in the proximal muscles and moderately weak in the distal muscles. Lung vital capacity was 57% of normal, serum creatine kinase was elevated, and EMG findings were consistent with a myopathy. There were no signs of cardiomyopathy clinically or by imaging, although he did have atrial fibrillation. His mother had had similar symptoms, with hip and shoulder girdle weakness, as well as atrial fibrillation. One of 3 children (a daughter) of the proband was also affected. Tajsharghi et al. (2003) also reported an unrelated 33-year-old woman with a similar phenotype, including waddling gait, winging of the scapulae, pseudohypertrophy of the calves, and normal cardiac findings. None of her family members was affected. Muscle biopsy in the proband of the first family showed type 1 fiber predominance and increased interstitial fat and connective tissue. Inclusion bodies consisting of the beta cardiac myosin heavy chain were present in the majority of type 1 fibers, but not in type 2 fibers. The authors termed the disorder 'myosin storage myopathy.' In affected members of a family and in an unrelated patient with CMYO7A, Tajsharghi et al. (2003) identified a heterozygous mutation in the MYH7 gene (R1845W; 160760.0028). </p><p>Sobrido et al. (2005) reported a large Spanish family with a congenital myopathy inherited in an autosomal dominant pattern. Seven of 25 examined family members were affected. Onset of slowly progressive muscle weakness was in early childhood, manifest by clumsiness and difficulty running, climbing stairs, and getting up from the floor. As adults, all retained independent ambulation but demonstrated waddling gait, proximal upper and lower extremity weakness and atrophy, weakness of foot dorsiflexors, and hypo- or areflexia. Notably, none of the affected individuals had neonatal respiratory or sucking difficulties. MRI studies showed loss of volume and fatty infiltration of proximal muscles; EMG showed myopathic changes. Skeletal muscle biopsies of 2 affected individuals showed characteristic findings of CFTD without dystrophic changes. No mutations were identified in the coding sequence of the ACTA1 gene (102610). Ortolano et al. (2011) reported follow-up of the family reported by Sobrido et al. (2005), noting that there were 12 affected members spanning 5 generations. The patients had an early-onset, slowly progressive predominantly proximal myopathy with mild distal involvement and no signs of cardiomyopathy. Skeletal muscle samples were available from 3 patients (at ages 25, 43, and 62). All showed features of CFTD, and the oldest patient demonstrated subsarcolemmal hyaline accumulation in type 1 muscle fibers, suggesting that the pathologic findings can change over time. Genetic analysis of this family identified a heterozygous mutation in the MYH7 gene (160760.0048). </p><p>Pegoraro et al. (2007) reported a large multigenerational family (family A) in which 9 individuals had variable manifestations of CMYO7A associated with a heterozygous missense mutation in the MYH7 gene (R1845W; 160760.0028). The proband was a 66-year-old man with a history of progressive weakness since childhood, delayed motor development, and clumsiness. At age 62, he had proximal muscle weakness and atrophy of the upper and lower limbs, a waddling gait, foot drop, pes cavus, scapular winging, and weakness of the anterior compartment of the distal leg. Muscle biopsy showed nonspecific myopathic changes, and he was diagnosed with scapuloperoneal myopathy. His 35-year-old niece had slowly progressive muscle weakness in the upper limbs since 7 to 8 years of age. As an adult, she had proximal muscle weakness of the upper and lower limbs, distal lower limb weakness, a waddling gait, foot drop, scapular winging, pes cavus, and quadriceps and calf hypertrophy. Muscle biopsy showed type 1 fiber predominance and hyaline bodies in type 1 fibers. Serum creatine kinase was elevated in both patients. Other family members with the mutation showed weakness of the upper and/or lower limbs with a variable age at onset ranging from childhood to adulthood. Many had scapular winging and pes cavus. Muscle MRI identified a unique pattern in the posterior compartment of the thigh, characterized by early involvement of the biceps femoris and semimembranosus, with relative sparing of the semitendinosus; distal leg muscles and upper limb muscles were also affected. Disease progression was slow, and all remained ambulatory. Four mutation carriers were asymptomatic at ages 29 to 43 years, but examination showed subtle features of the disease, including hyperCKemia. Pegoraro et al. (2007) also identified 2 members of another family (family B) with adult-onset of proximal and distal muscle weakness affecting the upper and lower limbs consistent with scapuloperoneal myopathy; hyaline bodies were found in the muscle biopsy of one. Genetic analysis in family B showed a heterozygous R1845W mutation in the MYH7 gene. The findings indicated that the absence of hyaline bodies in muscle biopsies does not rule out MYH7 gene mutations. </p><p>In a mother with myosin storage myopathy, who later developed hypertrophic cardiomyopathy (CMH1; 192600), and in her daughter, who had early-symptomatic left ventricular noncompaction (LVNC5; 613426), Uro-Coste et al. (2009) identified heterozygosity for a missense mutation in the MYH7 gene (L1793P; 160760.0037) The mother presented at age 30 years with proximal muscle weakness, which progressed to the point of her being wheelchair-bound by 48 years of age. At age 51, she was diagnosed with CMH. Skeletal muscle biopsy at age 53 showed subsarcolemmal accumulation of hyaline material in type 1 fibers. Her 24-year-old daughter presented with heart failure at 3 months of age and was diagnosed with early-onset cardiomyopathy. Angiography revealed a less-contractile, irregular 'spongiotic' wall in the inferior left ventricle, and echocardiography confirmed the diagnosis of LVNC. The daughter did not complain of muscle weakness, but clinical examination revealed bilateral wasting of the distal leg anterior compartment and she had some difficulty with heel-walking. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of CMYO7A in the kindred reported by Bohlega et al. (2003) was consistent with autosomal dominant inheritance. </p>
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<strong>Molecular Genetics</strong>
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<p>In a review, Tajsharghi and Oldfors (2013) noted that mutations in CMYO7A and CMYO7B are usually found in the distal rod region of the MYH7 gene. </p><p>In affected members of a family and in an unrelated patient with CMYO7A, Tajsharghi et al. (2003) identified a heterozygous mutation in the MYH7 gene (R1845W; 160760.0028). </p><p>In affected members of a Saudi Arabian family with autosomal dominant CMYO7A Bohlega et al. (2003), Bohlega et al. (2004) identified a heterozygous mutation in the MYH7 gene (H1904L; 160760.0031). </p><p>In a Belgian patient with myosin storage myopathy, originally reported by Ceuterick et al. (1993), Laing et al. (2005) identified a heterozygous mutation in the MYH7 gene (R1845W; 160760.0028). </p><p>In 1 of the affected sibs with congenital myopathy originally reported by Cancilla et al. (1971), Dye et al. (2006) identified a heterozygous mutation in the MYH7 gene (L1793P; 160760.0037), confirming that the disease in that family was autosomal dominant myosin storage myopathy. Dye et al. (2006) noted that contact with the family had been lost and DNA studies were performed on archival postmortem sections from the affected sister who died at age 25 years. The sibs presumably had the disease because of gonadal mosaicism in 1 of the unaffected parents, although this could not be confirmed. </p><p>In a large multigenerational family (family A) in which 9 individuals had variable manifestations of CMYO7A, Pegoraro et al. (2007) identified a heterozygous missense mutation in the MYH7 gene (R1845W; 160760.0028). Two affected members of another family (family B) carried the same heterozygous mutation. </p><p>In 12 affected members of a 5-generation Spanish family previously reported by Sobrido et al. (2005) with CMYO7A, Ortolano et al. (2011) identified a heterozygous mutation in the C-terminal region of the MYH7 gene (160760.0048). The mutation, which was found by a combination of linkage analysis and candidate gene sequencing, segregated with the disorder in the family. It was not present in 202 population controls. Two skeletal muscle samples studied had normal expression of type I and II myosin heavy chains, but only a younger patient showed decreased MYH7 transcript levels compared to controls. </p>
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<strong>Pathogenesis</strong>
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<p>Goebel and Warlo (2001) suggested that hyaline body myopathy may be related to a surplus of proteins present in a granular or filamentous form. </p><p>Armel and Leinwand (2009) analyzed the functional effects of 4 different MYH7 mutations in the rod or tail domain that were found to be responsible for myosin storage myopathy: R1845W (160760.0028), H1901L (160760.0031), E1886K (160760.0035), and L1793P (160760.0037). None of the mutations altered the secondary structure of the protein, but L1793P and H1901L showed decreased thermodynamic stability. All mutations decreased the extent of self-assembly of the light meromyosin rod (less than 50 to 60%) compared to the wildtype protein. R1845W and H1901L showed formation of more stable and larger filaments, whereas L1793P and E1886K showed more rapid filament degradation. Armel and Leinwand (2009) noted that the assembly of muscle filaments is a multistep process that involves both the proper folding of alpha-helices into coiled-coils, and the assembly of these coiled-coils, in proper register, into filaments, and concluded that defects in any one of these steps can result in improper filament formation leading to muscle disease. </p>
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<strong>History</strong>
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<p>Scapuloperoneal syndrome was initially described by Jules Broussard (1886) as 'une forme hereditaire d'atrophie musculaire progressive' beginning in the lower legs and affecting the shoulder region earlier and more severely than distal arm.</p><p>Thomas et al. (1975) described 6 cases of adult-onset scapuloperoneal myopathy. Four were apparently sporadic. The other 2 cases occurred in mother and daughter. Progression was relatively slow. Electromyography and muscle biopsy showed myopathic changes in all. Facial involvement occurred in some. The authors considered that the disorder resembled that described by Ricker and Mertens (1968) and Serratrice et al. (1969). The latter group observed 9 cases in which autosomal dominant inheritance was suggested. </p><p>Sahgal and Sahgal (1977) reported a patient with sporadic nonprogressive congenital myopathy with weakness and atrophy of the scapuloperoneal muscles. Muscle biopsy showed preferential atrophy of type I muscle fibers and subsarcolemmal bodies composed of an acid protein with ATPase activity. </p><p>Goebel et al. (1981) reported a 15-year-old girl with proximal muscle weakness since infancy. Milder distal muscle weakness was also present. Quadriceps muscle biopsy showed a predominance of type I muscle fibers with 'cytoplasmic bodies.' There was no family history. </p><p>Tawil et al. (1995) described 4 individuals in 2 generations, 1 female and 3 males, affected with a scapuloperoneal myopathy. There was male-to-male transmission. Electromyography demonstrated small polyphasic units, and muscle biopsy demonstrated necrotic and regenerating fibers as well as an increase in endomesial connective tissue, demonstrating this to be a myopathy. Although the index case fulfilled the diagnostic criteria for facioscapulohumeral dystrophy (158900), none of the other 3 affected individuals demonstrated facial weakness. Furthermore, linkage to markers on 4q35 was excluded, demonstrating this to be a distinct genetic entity. </p>
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<strong>REFERENCES</strong>
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<li>
<p class="mim-text-font">
Armel, T. Z., Leinwand, L. A.
<strong>Mutations in the alpha-myosin rod cause myosin storage myopathy via multiple mechanisms.</strong>
Proc. Nat. Acad. Sci. 106: 6291-6296, 2009.
[PubMed: 19336582]
[Full Text: https://doi.org/10.1073/pnas.0900107106]
</p>
</li>
<li>
<p class="mim-text-font">
Barohn, R. J., Brumback, R. A., Mendell, J. R.
<strong>Hyaline body myopathy.</strong>
Neuromusc. Disord. 4: 257-262, 1994.
[PubMed: 7522681]
[Full Text: https://doi.org/10.1016/0960-8966(94)90027-2]
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</li>
<li>
<p class="mim-text-font">
Bohlega, S., Abu-Amero, S. N., Wakil, S. M., Carroll, P., Al-Amr, R., Lach, B., Al-Sayed, Y., Cupler, E. J., Meyer, B. F.
<strong>Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy.</strong>
Neurology 62: 1518-1521, 2004.
[PubMed: 15136674]
[Full Text: https://doi.org/10.1212/01.wnl.0000123255.92062.37]
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<li>
<p class="mim-text-font">
Bohlega, S., Lach, B., Meyer, B. F., Al Said, Y., Kambouris, M., Al Homsi, M., Cupler, E. J.
<strong>Autosomal dominant hyaline body myopathy: clinical variability and pathologic findings.</strong>
Neurology 61: 1519-1523, 2003.
[PubMed: 14663035]
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