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<title>
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Entry
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- #160150 - MYOPATHY, CENTRONUCLEAR, 1; CNM1
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- OMIM
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<span class="h4">#160150</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/160150"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS160150"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#pathogenesis">Pathogenesis</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=169189" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111223" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/160150" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/OMIA002534/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0111223" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:160150" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 716696006<br />
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<strong>ICD10CM:</strong> G71.228<br />
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<strong>ORPHA:</strong> 169189<br />
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<strong>DO:</strong> 0111223<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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160150
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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MYOPATHY, CENTRONUCLEAR, 1; CNM1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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|
<span class="mim-font">
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|
MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT<br />
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MYOTUBULAR MYOPATHY, AUTOSOMAL DOMINANT
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
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|
<tr class="active">
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<th>
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Location
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</th>
|
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<th>
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|
Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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|
Phenotype <br /> mapping key
|
|
</th>
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<th>
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Gene/Locus
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</th>
|
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<th>
|
|
Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
|
|
<tbody>
|
|
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|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/3/33?start=-3&limit=10&highlight=33">
|
|
3p25.3
|
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</a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
{Centronuclear myopathy, autosomal, modifier of}
|
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|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/160150"> 160150 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
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|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
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|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
MTMR14
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611089"> 611089 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/19/281?start=-3&limit=10&highlight=281">
|
|
19p13.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Centronuclear myopathy 1
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/160150"> 160150 </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">
|
|
DNM2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602378"> 602378 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
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|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/160150" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS160150" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/160150" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/160150" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
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|
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|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Facial 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> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Ptosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/11934000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">11934000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29696001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29696001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.409" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.409</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.40</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/374.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.3</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/374.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.30</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0005745&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0005745</a>, <a href="https://bioportal.bioontology.org/search?q=C0033377&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033377</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000508</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=76abf29563d4adc64d21da86221224b1" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Ptosis-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=76abf29563d4adc64d21da86221224b1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Ophthalmoparesis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0751401&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0751401</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000597" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000597</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000597" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000597</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
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|
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|
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|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Contractures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57048009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57048009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/55033002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">55033002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M62.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M62.40</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M62.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M62.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009917&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009917</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MUSCLE, SOFT TISSUES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Muscle weakness, primarily proximal <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3805757&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3805757</a>]</span><br /> -
|
|
Distal muscle weakness may occur <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968625&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968625</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 /> -
|
|
Delayed motor development <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854301&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854301</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001270</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001270</a>]</span><br /> -
|
|
Muscle hypertrophy may occur <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3805758&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3805758</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249829006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249829006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003712" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003712</a>]</span><br /> -
|
|
Muscle biopsy shows centralized nuclei <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968626&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968626</a>]</span><br /> -
|
|
Atrophy of type 1 fibers <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850688&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850688</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 />
|
|
|
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</span>
|
|
</div>
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</div>
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</div>
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Walking difficulties <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 />
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</span>
|
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</div>
|
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</div>
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Peripheral Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Areflexia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/37280007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">37280007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234146&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234146</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001284" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001284</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001284" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001284</a>]</span><br />
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|
|
|
</span>
|
|
</div>
|
|
</div>
|
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|
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|
|
</div>
|
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|
|
</div>
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|
|
|
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|
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|
|
|
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|
|
|
|
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|
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|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Variable age of onset (range early childhood to adult)<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 />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
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|
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|
|
|
|
|
<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 dynamin-2 gene (DNM2, <a href="/entry/602378#0004">602378.0004</a>).<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Myopathy, centronuclear
|
|
- <a href="/phenotypicSeries/PS160150">PS160150</a>
|
|
- 7 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/619?start=-3&limit=10&highlight=619"> 2q14.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/255200"> Centronuclear myopathy 2 </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/255200"> 255200 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601248"> BIN1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601248"> 601248 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/782?start=-3&limit=10&highlight=782"> 2q31.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617760"> Centronuclear myopathy 6 with fiber-type disproportion </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/617760"> 617760 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609479"> MAP3K20 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609479"> 609479 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/1041?start=-3&limit=10&highlight=1041"> 2q35 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615959"> Centronuclear myopathy 5 </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/615959"> 615959 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615950"> SPEG </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615950"> 615950 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/33?start=-3&limit=10&highlight=33"> 3p25.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/160150"> {Centronuclear myopathy, autosomal, modifier of} </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/160150"> 160150 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611089"> MTMR14 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611089"> 611089 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/42?start=-3&limit=10&highlight=42"> 16p13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614807"> ?Centronuclear myopathy 4 </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/614807"> 614807 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614666"> CCDC78 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614666"> 614666 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/281?start=-3&limit=10&highlight=281"> 19p13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/160150"> Centronuclear myopathy 1 </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>
|
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<p>A number sign (#) is used with this entry because of evidence that centronuclear myopathy-1 (CNM1) is caused by heterozygous mutation in the gene encoding dynamin-2 (DNM2; <a href="/entry/602378">602378</a>) on chromosome 19p13.</p>
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<p>Centronuclear myopathy-1 (CNM1) is an autosomal dominant congenital myopathy characterized by slowly progressive muscular weakness and wasting. The disorder involves mainly limb girdle, trunk, and neck muscles but may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life, and some affected individuals become wheelchair-bound in their fifties. Ptosis and limitation of eye movements occur frequently. The most prominent histopathologic features include high frequency of centrally located nuclei in a large number of extrafusal muscle fibers (which is the basis of the name of the disorder), radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers (summary by <a href="#4" class="mim-tip-reference" title="Bitoun, M., Maugenre, S., Jeannet, P.-Y., Lacene, E., Ferrer, X., Laforet, P., Martin, J.-J., Laporte, J., Lochmuller, H., Beggs, A. H., Fardeau, M., Eymard, B., Romero, N. B., Guicheney, P. <strong>Mutations in dynamin 2 cause dominant centronuclear myopathy.</strong> Nature Genet. 37: 1207-1209, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16227997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16227997</a>] [<a href="https://doi.org/10.1038/ng1657" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16227997">Bitoun et al., 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16227997" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Genetic Heterogeneity of Centronuclear Myopathy</em></strong></p><p>
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Centronuclear myopathy is a genetically heterogeneous disorder. See also X-linked CNM (CNMX; <a href="/entry/310400">310400</a>), caused by mutation in the MTM1 gene (<a href="/entry/300415">300415</a>) on chromosome Xq28; CNM2 (<a href="/entry/255200">255200</a>), caused by mutation in the BIN1 gene (<a href="/entry/601248">601248</a>) on chromosome 2q14; CNM4 (<a href="/entry/614807">614807</a>), caused by mutation in the CCDC78 gene (<a href="/entry/614666">614666</a>) on chromosome 16p13; CNM5 (<a href="/entry/615959">615959</a>), caused by mutation in the SPEG gene (<a href="/entry/615950">615950</a>) on chromosome 2q35; and CNM6 (<a href="/entry/617760">617760</a>), caused by mutation in the ZAK gene (<a href="/entry/609479">609479</a>) on chromosome 2q31.</p><p>The mutation in the MYF6 gene that was reported to cause a form of CNM, formerly designated CNM3, has been reclassified as a variant of unknown significance; see <a href="/entry/159991#0001">159991.0001</a>.</p><p>Some patients with mutation in the RYR1 gene (<a href="/entry/180901">180901</a>) have findings of centronuclear myopathy on skeletal muscle biopsy (see <a href="/entry/255320">255320</a>).</p>
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<p><a href="#10" class="mim-tip-reference" title="Spiro, A. J., Shy, G. M., Gonatas, N. K. <strong>Myotubular myopathy.</strong> Arch. Neurol. 14: 1-14, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4954227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4954227</a>] [<a href="https://doi.org/10.1001/archneur.1966.00470070005001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4954227">Spiro et al. (1966)</a> reported an isolated case of what the authors referred to as 'myotubular myopathy.' There was slowly progressive muscle weakness; muscle biopsy showed centrally located nuclei. In the development of skeletal muscle a 'myotubular' stage with centrally located nuclei occurs in utero at about 10 weeks of age. <a href="#10" class="mim-tip-reference" title="Spiro, A. J., Shy, G. M., Gonatas, N. K. <strong>Myotubular myopathy.</strong> Arch. Neurol. 14: 1-14, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4954227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4954227</a>] [<a href="https://doi.org/10.1001/archneur.1966.00470070005001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4954227">Spiro et al. (1966)</a> thought this disease may represent persistence of fetal muscle. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4954227" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="McLeod, J. G., Baker, W. de C., Lethlean, A. K., Shorey, C. D. <strong>Centronuclear myopathy with autosomal dominant inheritance.</strong> J. Neurol. Sci. 15: 375-388, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5016690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5016690</a>] [<a href="https://doi.org/10.1016/0022-510x(72)90166-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5016690">McLeod et al. (1972)</a> reported a family that displayed autosomal dominant inheritance. Slowly progressive muscle weakness began between the first and third decades. It was primarily proximal in distribution but sometimes involved the facial musculature. External ophthalmoplegia and pharyngeal weakness were not features. Sixteen members of the family were affected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5016690" 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="Karpati, G., Carpenter, S., Nelson, R. F. <strong>Type I muscle fibre atrophy and central nuclei: a rare familial neuromuscular disease.</strong> J. Neurol. Sci. 10: 489-500, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4910660/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4910660</a>] [<a href="https://doi.org/10.1016/0022-510x(70)90027-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4910660">Karpati et al. (1970)</a> reported affected mother and daughter. Skeletal muscle pathology showed atrophy predominantly of type 1 muscle fibers, with central nuclei and pale central zones with variably staining granules. These changes were indistinguishable from those in the other genetic varieties of centronuclear myopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4910660" 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="Mortier, W., Michaelis, E., Becker, J., Gerhard, L. <strong>Centronucleare Myopathie mit autosomal dominatem Erbgang.</strong> Humangenetik 27: 199-215, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1150240/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1150240</a>] [<a href="https://doi.org/10.1007/BF00278346" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1150240">Mortier et al. (1975)</a> described centronuclear myopathy in teenaged brother and sister whose father may have been affected. Symptoms began in the children at 4 or 5 years of age with a 'sleepy facial expression,' clumsy gait, and easy fatigability. The disease progressed in a few years to generalized muscle weakness and atrophy, ptosis, ophthalmoplegia externa, and areflexia. Distal muscles in the lower limbs were severely affected. The father of the children had ptosis from at least age 20 years and generalized muscle atrophy had been noted at age 25. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1150240" 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="Wallgren-Pettersson, C., Clarke, A., Samson, F., Fardeau, M., Dubowitz, V., Moser, H., Grimm, T., Barohn, R. J., Barth, P. G. <strong>The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies.</strong> J. Med. Genet. 32: 673-679, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8544184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8544184</a>] [<a href="https://doi.org/10.1136/jmg.32.9.673" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8544184">Wallgren-Pettersson et al. (1995)</a> reviewed the differential diagnosis of the X-linked, autosomal dominant, and autosomal recessive forms of myotubular myopathy. They were aware of 13 reported pedigrees of which only 2 included histologically verified male-to-male transmission of MTM. Of 26 histologically verified cases, onset of symptoms was in the first decade in 9, in the second decade in 4, and later in 12. The clinical features are generalized muscle weakness, often predominantly proximal, but some patients show a definite additional distal involvement. A few patients have calf hypertrophy. The facial muscles may also be involved and some patients have ptosis or ophthalmoplegia. Of the 26 patients, 24 were alive at the time of writing of the reports, at ages ranging from 11 months to 68 years (mean 37 years). One patient had died at the age of 57 years of cardiorespiratory failure and another at 5 years. The autosomal dominant form for the most part has a later onset and milder course than the X-linked form but the clinical features do not seem to be qualitatively different. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8544184" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Bitoun, M., Bevilacqua, J. A., Prudhon, B., Maugenre, S., Taratuto, A. L., Monges, S., Lubieniecki, F., Cances, C., Uro-Coste, E., Mayer, M., Fardeau, M., Romero, N. B., Guicheney, P. <strong>Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset.</strong> Ann. Neurol. 62: 666-670, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17932957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17932957</a>] [<a href="https://doi.org/10.1002/ana.21235" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17932957">Bitoun et al. (2007)</a> reported 5 unrelated patients with sporadic MTM due to heterozygous mutations in the DNM2 gene (see, e.g., <a href="/entry/602378#0010">602378.0010</a>; <a href="/entry/602378#0011">602378.0011</a>). Three had a more severe form of the disorder, with onset at birth necessitating ventilation and nasogastric feeding, and delayed development. The other 2 patients had normal motor development but developed a restrictive respiratory syndrome at ages 10 and 7 years, respectively. All patients had generalized muscle weakness most prominent in the distal lower limbs, and EMG showed myopathic changes. Other variable features included open mouth, arched palate, ptosis, pes cavus, scoliosis, contractures, and hyperlaxity. Skeletal muscle biopsies showed hypotrophy of type 1 fibers and centralized nuclei. The 2 older patients, who were also the least affected, developed loss of deep tendon reflexes at age 8 and 7 years, respectively. <a href="#3" class="mim-tip-reference" title="Bitoun, M., Bevilacqua, J. A., Prudhon, B., Maugenre, S., Taratuto, A. L., Monges, S., Lubieniecki, F., Cances, C., Uro-Coste, E., Mayer, M., Fardeau, M., Romero, N. B., Guicheney, P. <strong>Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset.</strong> Ann. Neurol. 62: 666-670, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17932957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17932957</a>] [<a href="https://doi.org/10.1002/ana.21235" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17932957">Bitoun et al. (2007)</a> noted that the phenotype in these sporadic patients showed earlier onset and greater severity in general compared to other patients with DNM2-related MTM. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17932957" 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="Bitoun, M., Bevilacqua, J. A., Eymard, B., Prudhon, B., Fardeau, M., Guicheney, P., Romero, N. B. <strong>A new centronuclear myopathy phenotype due to a novel dynamin 2 mutation.</strong> Neurology 72: 93-95, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19122038/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19122038</a>] [<a href="https://doi.org/10.1212/01.wnl.0000338624.25852.12" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19122038">Bitoun et al. (2009)</a> reported a 34-year-old woman from central Africa with MTM confirmed by muscle biopsy and genetic analysis. Onset of symptoms occurred at age 7 years, with difficulty walking and running. She later developed facial weakness, ptosis, and weakness in the paraspinal, upper, and lower limb muscles. Motor nerve conduction velocities were normal. In her teenage years, she had rapid progression, with onset of ophthalmoparesis, dysphagia, and frequent falls. By age 30, she required a wheelchair and showed a progressive restrictive respiratory syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19122038" 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 CNM1 in the families reported by <a href="#4" class="mim-tip-reference" title="Bitoun, M., Maugenre, S., Jeannet, P.-Y., Lacene, E., Ferrer, X., Laforet, P., Martin, J.-J., Laporte, J., Lochmuller, H., Beggs, A. H., Fardeau, M., Eymard, B., Romero, N. B., Guicheney, P. <strong>Mutations in dynamin 2 cause dominant centronuclear myopathy.</strong> Nature Genet. 37: 1207-1209, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16227997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16227997</a>] [<a href="https://doi.org/10.1038/ng1657" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16227997">Bitoun et al. (2005)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16227997" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of 11 families with centronuclear myopathy, <a href="#4" class="mim-tip-reference" title="Bitoun, M., Maugenre, S., Jeannet, P.-Y., Lacene, E., Ferrer, X., Laforet, P., Martin, J.-J., Laporte, J., Lochmuller, H., Beggs, A. H., Fardeau, M., Eymard, B., Romero, N. B., Guicheney, P. <strong>Mutations in dynamin 2 cause dominant centronuclear myopathy.</strong> Nature Genet. 37: 1207-1209, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16227997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16227997</a>] [<a href="https://doi.org/10.1038/ng1657" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16227997">Bitoun et al. (2005)</a> identified recurrent and de novo heterozygous missense mutations in the DNM2 gene (see, e.g., <a href="/entry/602378#0004">602378.0004</a>-<a href="/entry/602378#0007">602378.0007</a>), which encodes a protein involved in endocytosis and membrane trafficking, actin assembly, and centrosome cohesion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16227997" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Genetic Modifiers</em></strong></p><p>
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<a href="#11" class="mim-tip-reference" title="Tosch, V., Rohde, H. M., Tronchere, H., Zanoteli, E., Monroy, N., Kretz, C., Dondaine, N., Payrastre, B., Mandel, J.-L., Laporte, J. <strong>A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy.</strong> Hum. Molec. Genet. 15: 3098-3106, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17008356/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17008356</a>] [<a href="https://doi.org/10.1093/hmg/ddl250" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17008356">Tosch et al. (2006)</a> provided evidence that mutations in the MTMR14 gene (<a href="/entry/611089">611089</a>) on chromosome 3p25 may act as modifiers of the centronuclear myopathy phenotype. The authors reported patients with sporadic myotubular myopathy in which each proband carried a heterozygous missense mutation in the MTMR14 gene. The first proband and his unaffected father carried an R336Q substitution (<a href="/entry/611089#0001">611089.0001</a>). A second mutation was not identified. The other proband carried a Y462C substitution in MTMR14 (<a href="/entry/611089#0002">611089.0002</a>) and an additional missense mutation in DYN2 (E368K; <a href="/entry/602378#0007">602378.0007</a>). The Y462C mutation was found in a control individual. Both variants impaired enzymatic function, the R336Q mutation strongly, and the Y462C mutation to a lesser extent. Tosch et al. (2006) remarked that myotubular myopathy patients with other characterized mutations in DYN2 usually have an age of onset in childhood or adulthood, whereas the age of onset in their patient was neonatal. The report raised the possibility of MTMR14 being a modifier of the phenotype in some cases of centronuclear myopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17008356" 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="#5" class="mim-tip-reference" title="Bohm, J., Biancalana, V., DeChene, E. T., Bitoun, M., Pierson, C. R., Schaefer, E., Karasoy, H., Dempsey, M. A., Klein, F., Dondaine, N., Kretz, C., Haumesser, N., and 56 others. <strong>Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.</strong> Hum. Mutat. 33: 949-959, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22396310/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22396310</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22396310[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/humu.22067" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22396310">Bohm et al. (2012)</a> reported 60 families with genetically confirmed CNM1, including 36 families with mutations in the MID domain of the DNM2 gene, 22 with mutations in the PH domain, and 2 with mutations in the PH-GED linker domain. Combined with previous reports, the most common mutation in CNM1 in the MID domain is R465W (<a href="/entry/602378#0006">602378.0006</a>), followed by E368K (<a href="/entry/602378#0007">602378.0007</a>), R369W (<a href="/entry/602378#0005">602378.0005</a>), and R369Q (<a href="/entry/602378#0004">602378.0004</a>). The most common mutations in the PH domain are R522H and S619L (<a href="/entry/602378#0010">602378.0010</a>). Mutations in the PH-GED domain are rare. The phenotype displayed marked inter- and intrafamilial variability, but in general, there were 3 major classes, ranging from the most severe with onset of symptoms in infancy to the least severe with onset in adulthood. At a minimum, all patients had areflexia or hyporeflexia, muscle weakness, and hypotrophic fibers with centralized nuclei on muscle biopsy. S619L was associated with a severe neonatal phenotype with hypotonia and delayed motor milestones, E368K with early onset and severe muscle weakness at birth with partial improvement over time, and R552H with a mild phenotype. Functional studies of the variants were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22396310" 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>Although the myofibers in centronuclear myopathy do not share all the histologic features of embryonic myotubes, the centrally placed nuclei have suggested to many investigators that the primary pathology in this disorder is an arrest of muscle fiber maturation at the myotube stage (<a href="#1" class="mim-tip-reference" title="Banker, B. Q. <strong>The congenital myopathies. In: Engel, A. G.; Banker, B. Q.: Myology: Basic and Clinical.</strong> New York: McGraw-Hill (pub.) 1986. Pp. 1527-1581."None>Banker, 1986</a>). <a href="#8" class="mim-tip-reference" title="Mora, M., Morandi, L., Merlini, L., Vita, G., Baradello, A., Barresi, R., Di Blasi, C., Blasevich, F., Gebbia, M., Daniel, S., Cornelio, F. <strong>Fetus-like dystrophin expression and other cytoskeletal protein abnormalities in centronuclear myopathies.</strong> Muscle Nerve 17: 1176-1184, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7935525/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7935525</a>] [<a href="https://doi.org/10.1002/mus.880171008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7935525">Mora et al. (1994)</a> suggested that there is only a partial arrest of fiber maturation because they found an intracytoplasmic distribution of dystrophin and beta-spectrin (see <a href="/entry/182790">182790</a>), an immature pattern, but no evidence of fetal myosin overexpression as is found in immature myotubes. None of these specimens originated from patients with X-linked centronuclear myopathy, although several may have had the autosomal recessive form. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7935525" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The DNM2 gene is mutant in some cases of autosomal dominant centronuclear myopathy. To investigate the ability of DNM2 mutant proteins to localize to the centrosome, <a href="#4" class="mim-tip-reference" title="Bitoun, M., Maugenre, S., Jeannet, P.-Y., Lacene, E., Ferrer, X., Laforet, P., Martin, J.-J., Laporte, J., Lochmuller, H., Beggs, A. H., Fardeau, M., Eymard, B., Romero, N. B., Guicheney, P. <strong>Mutations in dynamin 2 cause dominant centronuclear myopathy.</strong> Nature Genet. 37: 1207-1209, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16227997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16227997</a>] [<a href="https://doi.org/10.1038/ng1657" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16227997">Bitoun et al. (2005)</a> prepared green fluorescent protein (GFP) chimeras using wildtype and mutant DNM2 constructs. Transfected mutants showed reduced labeling in the centrosomes of human fibroblasts, suggesting that DNM2 mutations might cause centronuclear myopathy by interfering with centrosome function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16227997" 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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Banker, B. Q.
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<strong>The congenital myopathies. In: Engel, A. G.; Banker, B. Q.: Myology: Basic and Clinical.</strong>
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New York: McGraw-Hill (pub.) 1986. Pp. 1527-1581.
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Bitoun, M., Bevilacqua, J. A., Eymard, B., Prudhon, B., Fardeau, M., Guicheney, P., Romero, N. B.
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<strong>A new centronuclear myopathy phenotype due to a novel dynamin 2 mutation.</strong>
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Neurology 72: 93-95, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19122038/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19122038</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19122038" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000338624.25852.12" target="_blank">Full Text</a>]
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Bitoun, M., Bevilacqua, J. A., Prudhon, B., Maugenre, S., Taratuto, A. L., Monges, S., Lubieniecki, F., Cances, C., Uro-Coste, E., Mayer, M., Fardeau, M., Romero, N. B., Guicheney, P.
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<strong>Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset.</strong>
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Ann. Neurol. 62: 666-670, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17932957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17932957</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17932957" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ana.21235" target="_blank">Full Text</a>]
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Bitoun, M., Maugenre, S., Jeannet, P.-Y., Lacene, E., Ferrer, X., Laforet, P., Martin, J.-J., Laporte, J., Lochmuller, H., Beggs, A. H., Fardeau, M., Eymard, B., Romero, N. B., Guicheney, P.
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<strong>Mutations in dynamin 2 cause dominant centronuclear myopathy.</strong>
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Nature Genet. 37: 1207-1209, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16227997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16227997</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16227997" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng1657" target="_blank">Full Text</a>]
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Bohm, J., Biancalana, V., DeChene, E. T., Bitoun, M., Pierson, C. R., Schaefer, E., Karasoy, H., Dempsey, M. A., Klein, F., Dondaine, N., Kretz, C., Haumesser, N., and 56 others.
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<strong>Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.</strong>
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Hum. Mutat. 33: 949-959, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22396310/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22396310</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22396310[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22396310" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.22067" target="_blank">Full Text</a>]
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Karpati, G., Carpenter, S., Nelson, R. F.
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<strong>Type I muscle fibre atrophy and central nuclei: a rare familial neuromuscular disease.</strong>
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J. Neurol. Sci. 10: 489-500, 1970.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4910660/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4910660</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4910660" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0022-510x(70)90027-4" target="_blank">Full Text</a>]
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McLeod, J. G., Baker, W. de C., Lethlean, A. K., Shorey, C. D.
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<strong>Centronuclear myopathy with autosomal dominant inheritance.</strong>
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J. Neurol. Sci. 15: 375-388, 1972.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5016690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5016690</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5016690" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0022-510x(72)90166-9" target="_blank">Full Text</a>]
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Mora, M., Morandi, L., Merlini, L., Vita, G., Baradello, A., Barresi, R., Di Blasi, C., Blasevich, F., Gebbia, M., Daniel, S., Cornelio, F.
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<strong>Fetus-like dystrophin expression and other cytoskeletal protein abnormalities in centronuclear myopathies.</strong>
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Muscle Nerve 17: 1176-1184, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7935525/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7935525</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7935525" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/mus.880171008" target="_blank">Full Text</a>]
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<p class="mim-text-font">
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Mortier, W., Michaelis, E., Becker, J., Gerhard, L.
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<strong>Centronucleare Myopathie mit autosomal dominatem Erbgang.</strong>
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Humangenetik 27: 199-215, 1975.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1150240/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1150240</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1150240" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00278346" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Spiro1966" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Spiro, A. J., Shy, G. M., Gonatas, N. K.
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<strong>Myotubular myopathy.</strong>
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Arch. Neurol. 14: 1-14, 1966.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4954227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4954227</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4954227" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1001/archneur.1966.00470070005001" target="_blank">Full Text</a>]
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Tosch2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tosch, V., Rohde, H. M., Tronchere, H., Zanoteli, E., Monroy, N., Kretz, C., Dondaine, N., Payrastre, B., Mandel, J.-L., Laporte, J.
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<strong>A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy.</strong>
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Hum. Molec. Genet. 15: 3098-3106, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17008356/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17008356</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17008356" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddl250" target="_blank">Full Text</a>]
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</p>
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</li>
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Wallgren-Pettersson1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wallgren-Pettersson, C., Clarke, A., Samson, F., Fardeau, M., Dubowitz, V., Moser, H., Grimm, T., Barohn, R. J., Barth, P. G.
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<strong>The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies.</strong>
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J. Med. Genet. 32: 673-679, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8544184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8544184</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8544184" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.32.9.673" target="_blank">Full Text</a>]
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</ol>
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<br />
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 11/6/2017
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 5/20/2015<br>Cassandra L. Kniffin - updated : 12/22/2011<br>Cassandra L. Kniffin - updated : 3/16/2009<br>Cassandra L. Kniffin - updated : 3/31/2008<br>Victor A. McKusick - updated : 11/1/2005<br>Victor A. McKusick - updated : 8/28/2003<br>Victor A. McKusick - updated : 11/29/2000
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 01/06/2023
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 03/28/2022<br>carol : 02/15/2019<br>carol : 02/14/2019<br>carol : 02/11/2019<br>carol : 11/07/2017<br>ckniffin : 11/06/2017<br>carol : 06/05/2017<br>alopez : 05/21/2015<br>mcolton : 5/21/2015<br>ckniffin : 5/20/2015<br>carol : 8/26/2014<br>ckniffin : 8/25/2014<br>carol : 8/16/2013<br>carol : 9/12/2012<br>ckniffin : 9/12/2012<br>joanna : 6/14/2012<br>carol : 12/29/2011<br>ckniffin : 12/22/2011<br>wwang : 3/10/2011<br>ckniffin : 2/16/2011<br>ckniffin : 3/12/2010<br>wwang : 3/25/2009<br>ckniffin : 3/16/2009<br>wwang : 4/4/2008<br>ckniffin : 3/31/2008<br>alopez : 7/19/2007<br>ckniffin : 7/19/2006<br>alopez : 11/3/2005<br>terry : 11/1/2005<br>tkritzer : 9/2/2003<br>tkritzer : 8/29/2003<br>tkritzer : 8/28/2003<br>alopez : 3/13/2002<br>mcapotos : 12/18/2000<br>mcapotos : 12/14/2000<br>terry : 11/29/2000<br>mark : 10/20/1995<br>carol : 1/26/1995<br>mimadm : 12/2/1994<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/27/1989
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</span>
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</div>
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</div>
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<div class="container visible-print-block">
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<div>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 160150
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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MYOPATHY, CENTRONUCLEAR, 1; CNM1
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</span>
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</h3>
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</div>
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<div>
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<br />
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<div>
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<div >
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT<br />
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MYOTUBULAR MYOPATHY, AUTOSOMAL DOMINANT
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</span>
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</h4>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 716696006;
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<strong>ICD10CM:</strong> G71.228;
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<strong>ORPHA:</strong> 169189;
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<strong>DO:</strong> 0111223;
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</span>
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</p>
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</div>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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3p25.3
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</span>
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</td>
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<td>
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<span class="mim-font">
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{Centronuclear myopathy, autosomal, modifier of}
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</span>
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</td>
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<td>
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<span class="mim-font">
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160150
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<td>
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<span class="mim-font">
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MTMR14
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</span>
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</td>
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<td>
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<span class="mim-font">
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611089
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<tr>
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<td>
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<span class="mim-font">
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19p13.2
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</td>
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<td>
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<span class="mim-font">
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Centronuclear myopathy 1
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</span>
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</td>
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<td>
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<span class="mim-font">
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160150
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<td>
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<span class="mim-font">
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DNM2
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</span>
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</td>
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<td>
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<span class="mim-font">
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602378
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</span>
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</td>
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</tbody>
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</table>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that centronuclear myopathy-1 (CNM1) is caused by heterozygous mutation in the gene encoding dynamin-2 (DNM2; 602378) on chromosome 19p13.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Centronuclear myopathy-1 (CNM1) is an autosomal dominant congenital myopathy characterized by slowly progressive muscular weakness and wasting. The disorder involves mainly limb girdle, trunk, and neck muscles but may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life, and some affected individuals become wheelchair-bound in their fifties. Ptosis and limitation of eye movements occur frequently. The most prominent histopathologic features include high frequency of centrally located nuclei in a large number of extrafusal muscle fibers (which is the basis of the name of the disorder), radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers (summary by Bitoun et al., 2005). </p><p><strong><em>Genetic Heterogeneity of Centronuclear Myopathy</em></strong></p><p>
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|
Centronuclear myopathy is a genetically heterogeneous disorder. See also X-linked CNM (CNMX; 310400), caused by mutation in the MTM1 gene (300415) on chromosome Xq28; CNM2 (255200), caused by mutation in the BIN1 gene (601248) on chromosome 2q14; CNM4 (614807), caused by mutation in the CCDC78 gene (614666) on chromosome 16p13; CNM5 (615959), caused by mutation in the SPEG gene (615950) on chromosome 2q35; and CNM6 (617760), caused by mutation in the ZAK gene (609479) on chromosome 2q31.</p><p>The mutation in the MYF6 gene that was reported to cause a form of CNM, formerly designated CNM3, has been reclassified as a variant of unknown significance; see 159991.0001.</p><p>Some patients with mutation in the RYR1 gene (180901) have findings of centronuclear myopathy on skeletal muscle biopsy (see 255320).</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Spiro et al. (1966) reported an isolated case of what the authors referred to as 'myotubular myopathy.' There was slowly progressive muscle weakness; muscle biopsy showed centrally located nuclei. In the development of skeletal muscle a 'myotubular' stage with centrally located nuclei occurs in utero at about 10 weeks of age. Spiro et al. (1966) thought this disease may represent persistence of fetal muscle. </p><p>McLeod et al. (1972) reported a family that displayed autosomal dominant inheritance. Slowly progressive muscle weakness began between the first and third decades. It was primarily proximal in distribution but sometimes involved the facial musculature. External ophthalmoplegia and pharyngeal weakness were not features. Sixteen members of the family were affected. </p><p>Karpati et al. (1970) reported affected mother and daughter. Skeletal muscle pathology showed atrophy predominantly of type 1 muscle fibers, with central nuclei and pale central zones with variably staining granules. These changes were indistinguishable from those in the other genetic varieties of centronuclear myopathy. </p><p>Mortier et al. (1975) described centronuclear myopathy in teenaged brother and sister whose father may have been affected. Symptoms began in the children at 4 or 5 years of age with a 'sleepy facial expression,' clumsy gait, and easy fatigability. The disease progressed in a few years to generalized muscle weakness and atrophy, ptosis, ophthalmoplegia externa, and areflexia. Distal muscles in the lower limbs were severely affected. The father of the children had ptosis from at least age 20 years and generalized muscle atrophy had been noted at age 25. </p><p>Wallgren-Pettersson et al. (1995) reviewed the differential diagnosis of the X-linked, autosomal dominant, and autosomal recessive forms of myotubular myopathy. They were aware of 13 reported pedigrees of which only 2 included histologically verified male-to-male transmission of MTM. Of 26 histologically verified cases, onset of symptoms was in the first decade in 9, in the second decade in 4, and later in 12. The clinical features are generalized muscle weakness, often predominantly proximal, but some patients show a definite additional distal involvement. A few patients have calf hypertrophy. The facial muscles may also be involved and some patients have ptosis or ophthalmoplegia. Of the 26 patients, 24 were alive at the time of writing of the reports, at ages ranging from 11 months to 68 years (mean 37 years). One patient had died at the age of 57 years of cardiorespiratory failure and another at 5 years. The autosomal dominant form for the most part has a later onset and milder course than the X-linked form but the clinical features do not seem to be qualitatively different. </p><p>Bitoun et al. (2007) reported 5 unrelated patients with sporadic MTM due to heterozygous mutations in the DNM2 gene (see, e.g., 602378.0010; 602378.0011). Three had a more severe form of the disorder, with onset at birth necessitating ventilation and nasogastric feeding, and delayed development. The other 2 patients had normal motor development but developed a restrictive respiratory syndrome at ages 10 and 7 years, respectively. All patients had generalized muscle weakness most prominent in the distal lower limbs, and EMG showed myopathic changes. Other variable features included open mouth, arched palate, ptosis, pes cavus, scoliosis, contractures, and hyperlaxity. Skeletal muscle biopsies showed hypotrophy of type 1 fibers and centralized nuclei. The 2 older patients, who were also the least affected, developed loss of deep tendon reflexes at age 8 and 7 years, respectively. Bitoun et al. (2007) noted that the phenotype in these sporadic patients showed earlier onset and greater severity in general compared to other patients with DNM2-related MTM. </p><p>Bitoun et al. (2009) reported a 34-year-old woman from central Africa with MTM confirmed by muscle biopsy and genetic analysis. Onset of symptoms occurred at age 7 years, with difficulty walking and running. She later developed facial weakness, ptosis, and weakness in the paraspinal, upper, and lower limb muscles. Motor nerve conduction velocities were normal. In her teenage years, she had rapid progression, with onset of ophthalmoparesis, dysphagia, and frequent falls. By age 30, she required a wheelchair and showed a progressive restrictive respiratory syndrome. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of CNM1 in the families reported by Bitoun et al. (2005) was consistent with autosomal dominant inheritance. </p>
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<strong>Molecular Genetics</strong>
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<p>In affected members of 11 families with centronuclear myopathy, Bitoun et al. (2005) identified recurrent and de novo heterozygous missense mutations in the DNM2 gene (see, e.g., 602378.0004-602378.0007), which encodes a protein involved in endocytosis and membrane trafficking, actin assembly, and centrosome cohesion. </p><p><strong><em>Genetic Modifiers</em></strong></p><p>
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Tosch et al. (2006) provided evidence that mutations in the MTMR14 gene (611089) on chromosome 3p25 may act as modifiers of the centronuclear myopathy phenotype. The authors reported patients with sporadic myotubular myopathy in which each proband carried a heterozygous missense mutation in the MTMR14 gene. The first proband and his unaffected father carried an R336Q substitution (611089.0001). A second mutation was not identified. The other proband carried a Y462C substitution in MTMR14 (611089.0002) and an additional missense mutation in DYN2 (E368K; 602378.0007). The Y462C mutation was found in a control individual. Both variants impaired enzymatic function, the R336Q mutation strongly, and the Y462C mutation to a lesser extent. Tosch et al. (2006) remarked that myotubular myopathy patients with other characterized mutations in DYN2 usually have an age of onset in childhood or adulthood, whereas the age of onset in their patient was neonatal. The report raised the possibility of MTMR14 being a modifier of the phenotype in some cases of centronuclear myopathy. </p>
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<p>Bohm et al. (2012) reported 60 families with genetically confirmed CNM1, including 36 families with mutations in the MID domain of the DNM2 gene, 22 with mutations in the PH domain, and 2 with mutations in the PH-GED linker domain. Combined with previous reports, the most common mutation in CNM1 in the MID domain is R465W (602378.0006), followed by E368K (602378.0007), R369W (602378.0005), and R369Q (602378.0004). The most common mutations in the PH domain are R522H and S619L (602378.0010). Mutations in the PH-GED domain are rare. The phenotype displayed marked inter- and intrafamilial variability, but in general, there were 3 major classes, ranging from the most severe with onset of symptoms in infancy to the least severe with onset in adulthood. At a minimum, all patients had areflexia or hyporeflexia, muscle weakness, and hypotrophic fibers with centralized nuclei on muscle biopsy. S619L was associated with a severe neonatal phenotype with hypotonia and delayed motor milestones, E368K with early onset and severe muscle weakness at birth with partial improvement over time, and R552H with a mild phenotype. Functional studies of the variants were not performed. </p>
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<p>Although the myofibers in centronuclear myopathy do not share all the histologic features of embryonic myotubes, the centrally placed nuclei have suggested to many investigators that the primary pathology in this disorder is an arrest of muscle fiber maturation at the myotube stage (Banker, 1986). Mora et al. (1994) suggested that there is only a partial arrest of fiber maturation because they found an intracytoplasmic distribution of dystrophin and beta-spectrin (see 182790), an immature pattern, but no evidence of fetal myosin overexpression as is found in immature myotubes. None of these specimens originated from patients with X-linked centronuclear myopathy, although several may have had the autosomal recessive form. </p><p>The DNM2 gene is mutant in some cases of autosomal dominant centronuclear myopathy. To investigate the ability of DNM2 mutant proteins to localize to the centrosome, Bitoun et al. (2005) prepared green fluorescent protein (GFP) chimeras using wildtype and mutant DNM2 constructs. Transfected mutants showed reduced labeling in the centrosomes of human fibroblasts, suggesting that DNM2 mutations might cause centronuclear myopathy by interfering with centrosome function. </p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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Banker, B. Q.
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<strong>The congenital myopathies. In: Engel, A. G.; Banker, B. Q.: Myology: Basic and Clinical.</strong>
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New York: McGraw-Hill (pub.) 1986. Pp. 1527-1581.
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Bitoun, M., Bevilacqua, J. A., Eymard, B., Prudhon, B., Fardeau, M., Guicheney, P., Romero, N. B.
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<strong>A new centronuclear myopathy phenotype due to a novel dynamin 2 mutation.</strong>
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Neurology 72: 93-95, 2009.
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Bitoun, M., Bevilacqua, J. A., Prudhon, B., Maugenre, S., Taratuto, A. L., Monges, S., Lubieniecki, F., Cances, C., Uro-Coste, E., Mayer, M., Fardeau, M., Romero, N. B., Guicheney, P.
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<strong>Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset.</strong>
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Bitoun, M., Maugenre, S., Jeannet, P.-Y., Lacene, E., Ferrer, X., Laforet, P., Martin, J.-J., Laporte, J., Lochmuller, H., Beggs, A. H., Fardeau, M., Eymard, B., Romero, N. B., Guicheney, P.
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<strong>Mutations in dynamin 2 cause dominant centronuclear myopathy.</strong>
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Nature Genet. 37: 1207-1209, 2005.
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[PubMed: 16227997]
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Bohm, J., Biancalana, V., DeChene, E. T., Bitoun, M., Pierson, C. R., Schaefer, E., Karasoy, H., Dempsey, M. A., Klein, F., Dondaine, N., Kretz, C., Haumesser, N., and 56 others.
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<strong>Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.</strong>
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Hum. Mutat. 33: 949-959, 2012.
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Karpati, G., Carpenter, S., Nelson, R. F.
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<strong>Type I muscle fibre atrophy and central nuclei: a rare familial neuromuscular disease.</strong>
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J. Neurol. Sci. 10: 489-500, 1970.
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[PubMed: 4910660]
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[Full Text: https://doi.org/10.1016/0022-510x(70)90027-4]
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McLeod, J. G., Baker, W. de C., Lethlean, A. K., Shorey, C. D.
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<strong>Centronuclear myopathy with autosomal dominant inheritance.</strong>
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J. Neurol. Sci. 15: 375-388, 1972.
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[PubMed: 5016690]
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[Full Text: https://doi.org/10.1016/0022-510x(72)90166-9]
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Mora, M., Morandi, L., Merlini, L., Vita, G., Baradello, A., Barresi, R., Di Blasi, C., Blasevich, F., Gebbia, M., Daniel, S., Cornelio, F.
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<strong>Fetus-like dystrophin expression and other cytoskeletal protein abnormalities in centronuclear myopathies.</strong>
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Muscle Nerve 17: 1176-1184, 1994.
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[PubMed: 7935525]
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[Full Text: https://doi.org/10.1002/mus.880171008]
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Mortier, W., Michaelis, E., Becker, J., Gerhard, L.
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<strong>Centronucleare Myopathie mit autosomal dominatem Erbgang.</strong>
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Humangenetik 27: 199-215, 1975.
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[PubMed: 1150240]
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[Full Text: https://doi.org/10.1007/BF00278346]
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Spiro, A. J., Shy, G. M., Gonatas, N. K.
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<strong>Myotubular myopathy.</strong>
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Arch. Neurol. 14: 1-14, 1966.
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[PubMed: 4954227]
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[Full Text: https://doi.org/10.1001/archneur.1966.00470070005001]
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Tosch, V., Rohde, H. M., Tronchere, H., Zanoteli, E., Monroy, N., Kretz, C., Dondaine, N., Payrastre, B., Mandel, J.-L., Laporte, J.
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<strong>A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy.</strong>
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Hum. Molec. Genet. 15: 3098-3106, 2006.
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[PubMed: 17008356]
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[Full Text: https://doi.org/10.1093/hmg/ddl250]
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Wallgren-Pettersson, C., Clarke, A., Samson, F., Fardeau, M., Dubowitz, V., Moser, H., Grimm, T., Barohn, R. J., Barth, P. G.
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<strong>The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies.</strong>
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J. Med. Genet. 32: 673-679, 1995.
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[PubMed: 8544184]
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[Full Text: https://doi.org/10.1136/jmg.32.9.673]
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Cassandra L. Kniffin - updated : 11/6/2017<br>Cassandra L. Kniffin - updated : 5/20/2015<br>Cassandra L. Kniffin - updated : 12/22/2011<br>Cassandra L. Kniffin - updated : 3/16/2009<br>Cassandra L. Kniffin - updated : 3/31/2008<br>Victor A. McKusick - updated : 11/1/2005<br>Victor A. McKusick - updated : 8/28/2003<br>Victor A. McKusick - updated : 11/29/2000
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Victor A. McKusick : 6/2/1986
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carol : 01/06/2023<br>carol : 03/28/2022<br>carol : 02/15/2019<br>carol : 02/14/2019<br>carol : 02/11/2019<br>carol : 11/07/2017<br>ckniffin : 11/06/2017<br>carol : 06/05/2017<br>alopez : 05/21/2015<br>mcolton : 5/21/2015<br>ckniffin : 5/20/2015<br>carol : 8/26/2014<br>ckniffin : 8/25/2014<br>carol : 8/16/2013<br>carol : 9/12/2012<br>ckniffin : 9/12/2012<br>joanna : 6/14/2012<br>carol : 12/29/2011<br>ckniffin : 12/22/2011<br>wwang : 3/10/2011<br>ckniffin : 2/16/2011<br>ckniffin : 3/12/2010<br>wwang : 3/25/2009<br>ckniffin : 3/16/2009<br>wwang : 4/4/2008<br>ckniffin : 3/31/2008<br>alopez : 7/19/2007<br>ckniffin : 7/19/2006<br>alopez : 11/3/2005<br>terry : 11/1/2005<br>tkritzer : 9/2/2003<br>tkritzer : 8/29/2003<br>tkritzer : 8/28/2003<br>alopez : 3/13/2002<br>mcapotos : 12/18/2000<br>mcapotos : 12/14/2000<br>terry : 11/29/2000<br>mark : 10/20/1995<br>carol : 1/26/1995<br>mimadm : 12/2/1994<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/27/1989
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