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Entry
- #310400 - MYOPATHY, CENTRONUCLEAR, X-LINKED; CNMX
- OMIM
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<span class="h4">#310400</span>
<br />
<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/310400"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS160150"> <strong>Phenotypic Series</strong> </a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#diagnosis">Diagnosis</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#pathogenesis">Pathogenesis</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=MYOPATHY, CENTRONUCLEAR, X-LINKED" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=364&Typ=Pat" title="X-linked centronuclear myopathy" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">X-linked centronuclear myo…&nbsp;</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=30663&Typ=Pat" title="Symptomatic form of X-linked centronuclear myopathy in female carriers" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Symptomatic form of X-link…&nbsp;</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1432/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=596" title="X-linked centronuclear myopathy" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">X-linked centronuclear myo…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=604680" title="Symptomatic form of X-linked centronuclear myopathy in female carriers" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Symptomatic form of X-link…</a></div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/16350fa7-2c18-4d99-8b00-eb1d7448f69d/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:0111225" 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 id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Cell Lines</div>
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</a>
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</div>
<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://catalog.coriell.org/Search?q=OmimNum:310400" 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>
<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.">
&nbsp;
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 46804001<br />
<strong>ICD10CM:</strong> G71.220<br />
<strong>ORPHA:</strong> 596, 604680<br />
<strong>DO:</strong> 0111225<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
310400
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
MYOPATHY, CENTRONUCLEAR, X-LINKED; CNMX
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
MYOTUBULAR MYOPATHY, X-LINKED; MTMX; XLMTM<br />
MYOTUBULAR MYOPATHY 1; MTM1
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/792?start=-3&limit=10&highlight=792">
Xq28
</a>
</span>
</td>
<td>
<span class="mim-font">
Myopathy, centronuclear, X-linked
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/310400"> 310400 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</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">
MTM1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300415"> 300415 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
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<a href="/clinicalSynopsis/310400" 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')">
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&nbsp;
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<a href="/phenotypicSeries/PS160150" class="btn btn-info" role="button"> Phenotypic Series </a>
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&nbsp;
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
PheneGene Graphics <span class="caret"></span>
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<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/310400" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/310400" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- X-linked recessive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845977&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845977</a>, <a href="https://bioportal.bioontology.org/search?q=C1279481&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1279481</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GROWTH </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Height </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Increased birth length (>90th percentile) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839635&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839635</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Head </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Large head circumference <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1145403003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1145403003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4083076&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4083076</a>, <a href="https://bioportal.bioontology.org/search?q=C2243051&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2243051</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000256</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0040194" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0040194</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000256</a>]</span><br />
</span>
</div>
</div>
<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 /> -
Narrow, elongated face <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839638&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839638</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">
- External ophthalmoplegia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/19373007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">19373007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H49.88" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H49.88</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/378.55" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">378.55</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0162292&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0162292</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000544" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000544</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000544" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000544</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Mouth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- High-arched palate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/27272007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">27272007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q38.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q38.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240635&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240635</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Neck </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Neck muscle weakness <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240479&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240479</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000467" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000467</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000467" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000467</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> RESPIRATORY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Neonatal respiratory distress <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1179627006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1179627006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4281993&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4281993</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002643" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002643</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002643" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002643</a>]</span><br /> -
Respiratory failure often resulting in ventilator dependency <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806816&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806816</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> CHEST </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Diaphragm </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Eventration of the diaphragm <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/34168003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">34168003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q79.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q79.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011981&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011981</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009110" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009110</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009110" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009110</a>]</span><br /> -
Atrophic, thin diaphragm <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839633&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839633</a>]</span><br /> -
Elevated hemidiaphragm in symptomatic carrier females <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839634&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839634</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> ABDOMEN </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Liver </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Decreased liver function <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/77981007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">77981007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0232744&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0232744</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001410" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001410</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001410" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001410</a>]</span><br /> -
Fatal liver hemorrhage <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839636&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839636</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Gastrointestinal </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Pyloric stenosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/367403001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">367403001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48644003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48644003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q40.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q40.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K31.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K31.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/750.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">750.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0034194&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0034194</a>, <a href="https://bioportal.bioontology.org/search?q=C0700639&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700639</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002021" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002021</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002021" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002021</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GENITOURINARY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Internal Genitalia (Male) </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Cryptorchidism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204878001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204878001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q53.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q53.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0010417&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010417</a>, <a href="https://bioportal.bioontology.org/search?q=C5441920&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5441920</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000028</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000028</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Joint contractures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7890003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7890003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M24.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M24.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/718.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">718.4</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/718.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">718.40</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009918&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009918</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034392" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034392</a>]</span><br />
</span>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Limbs </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Unilateral skeletal asymmetry (arm and leg) in symptomatic carrier females <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839639&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839639</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Hands </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Slender, long digits <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839640&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839640</a>]</span><br /> -
Unilateral skeletal asymmetry in symptomatic carrier females <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839641&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839641</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Feet </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Slender, long digits <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839640&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839640</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MUSCLE, SOFT TISSUES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Generalized muscle weakness also seen in symptomatic carrier females <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806815&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806815</a>]</span><br /> -
Muscle biopsy shows small fibers with central nuclei and accumulation of mitochondria in the central part of the fibers <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839643&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839643</a>]</span><br /> -
Muscle fibers appear as fetal myotubules <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839644&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839644</a>]</span><br /> -
Muscle fibers are immunoreactive for desmin and vimentin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839645&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839645</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Central Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hypotonia, severe <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839630&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839630</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006829</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006829</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398151007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398151007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398152000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398152000</a>]</span><br /> -
'Floppy' infants <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205294008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205294008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/33010005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">33010005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/P94.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">P94.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0270971&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0270971</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001319" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001319</a>]</span><br /> -
Decreased spontaneous movements <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43994002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43994002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/255385008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">255385008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0086439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0086439</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002375" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002375</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002375" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002375</a>]</span><br /> -
Areflexia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/37280007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">37280007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234146&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234146</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001284" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001284</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001284" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001284</a>]</span><br /> -
Hydrocephalus (less common) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/230745008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">230745008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G91</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G91.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G91.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020255&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020255</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000238" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000238</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000238" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000238</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> PRENATAL MANIFESTATIONS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Movement </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Decreased fetal movements <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/276369006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">276369006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/O36.8190" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">O36.8190</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/O36.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">O36.81</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0235659&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235659</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001558" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001558</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001558" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001558</a>]</span><br />
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<em> Amniotic Fluid </em>
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- Polyhydramnios <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86203003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86203003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/O40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">O40</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/657.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">657.0</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/657" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">657</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020224&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020224</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001561" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001561</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001561" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001561</a>]</span><br />
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<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
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<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Usually fatal in infancy<br /> -
Some carrier females may manifest mild symptoms<br />
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<div>
<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
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<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Caused by mutation in the myotubularin gene (MTM1, <a href="/entry/300415#0001">300415.0001</a>).<br />
</span>
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<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">
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
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<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
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<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>
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<strong>Phenotype<br />MIM number</strong>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
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</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>
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<td>
<span class="mim-font">
<a href="/entry/255200"> 255200 </a>
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<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>
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<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>
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<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>
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<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>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/160150"> 160150 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602378"> DNM2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602378"> 602378 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/792?start=-3&limit=10&highlight=792"> Xq28 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/310400"> Myopathy, centronuclear, X-linked </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</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/310400"> 310400 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300415"> MTM1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300415"> 300415 </a>
</span>
</td>
</tr>
</tbody>
</table>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon &lt;span class='glyphicon glyphicon-plus-sign'&gt;&lt;/span&gt at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because X-linked centronuclear myopathy (CNMX), also known as X-linked myotubular myopathy-1, is caused by mutation in the myotubularin gene (MTM1; <a href="/entry/300415">300415</a>) on chromosome Xq28.</p><p>For a general phenotypic description and a discussion of genetic heterogeneity of centronuclear myopathy, see CNM1 (<a href="/entry/160150">160150</a>).</p><p>See myotubular myopathy with abnormal genital development (<a href="/entry/300219">300219</a>), a possible contiguous gene syndrome.</p>
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<strong>Clinical Features</strong>
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<p><a href="#55" class="mim-tip-reference" title="Van Wijngaarden, G. K., Fleury, P., Bethlem, J., Meijer, A. E. F. H. &lt;strong&gt;Familial &#x27;myotubular&#x27; myopathy.&lt;/strong&gt; Neurology 19: 901-908, 1969.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5816884/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;5816884&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.19.9.901&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="5816884">Van Wijngaarden et al. (1969)</a> described this disorder in 5 affected males in 4 sibships connected through females who in 2 instances showed partial manifestations on muscle biopsy. The patients were born as floppy infants and had serious respiratory problems early in life; extraocular, facial, and neck muscles were always affected. <a href="#37" class="mim-tip-reference" title="Meyers, K. R., Golomb, H. M., Hansen, J. L., McKusick, V. A. &lt;strong&gt;Familial neuromuscular disease with &#x27;myotubes.&#x27;.&lt;/strong&gt; Clin. Genet. 5: 327-337, 1974.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4136736/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4136736&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1974.tb01702.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4136736">Meyers et al. (1974)</a> reported affected brothers; both were floppy infants and died at 7 and 18 months of age. The mother showed no abnormality on muscle biopsy or enzyme assay. One of the brothers was previously reported by <a href="#18" class="mim-tip-reference" title="Engel, W. K., Gold, G. N., Karpati, B. &lt;strong&gt;Type I fiber hypotrophy and central nuclei.&lt;/strong&gt; Arch. Neurol. 18: 435-444, 1968.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4230186/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4230186&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archneur.1968.00470340121011&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4230186">Engel et al. (1968)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4230186+5816884+4136736" 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="#24" class="mim-tip-reference" title="Heckmatt, J. Z., Sewry, C. A., Hodes, D., Dubowitz, V. &lt;strong&gt;Congenital centronuclear (myotubular) myopathy: a clinical, pathological and genetic study in eight children.&lt;/strong&gt; Brain 108: 941-964, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4075080/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4075080&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/brain/108.4.941&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4075080">Heckmatt et al. (1985)</a> reported in detail on 8 unrelated children. Facial diplegia and often external ophthalmoplegia were frequent. The newborn cases resemble those of congenital myotonic dystrophy; the distinction can be made by examination of their mother who in the latter situation will invariably show mild facial weakness and clinical or electrical myotonia. Polyhydramnios is a feature of both forms of congenital myopathy, i.e., myotonic dystrophy and X-linked myotubular myopathy. <a href="#28" class="mim-tip-reference" title="Keppen, L. D., Husain, M. M., Woody, R. C. &lt;strong&gt;X-linked myotubular myopathy: intrafamilial variability and normal muscle biopsy in a heterozygous female.&lt;/strong&gt; Clin. Genet. 32: 95-99, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3652496/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3652496&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1987.tb03332.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3652496">Keppen et al. (1987)</a> noted that there is often a history of polyhydramnios due to decreased fetal swallowing of amniotic fluid. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4075080+3652496" 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="#38" class="mim-tip-reference" title="Moerman, P., Fryns, J.-P., Devlieger, H., Van Assche, A., Lauweryns, J. &lt;strong&gt;Congenital eventration of the diaphragm: an unusual cause of intractable neonatal respiratory distress with variable etiology.&lt;/strong&gt; Am. J. Med. Genet. 27: 213-218, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3605197/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3605197&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320270124&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3605197">Moerman et al. (1987)</a> concluded that severe X-linked centronuclear myopathy was responsible for neonatal death from respiratory failure in a case with congenital eventration of the diaphragm which was paper thin and almost transparent. At least 1 other male in the sibship had confirmed X-linked centronuclear myopathy leading to neonatal death. A second patient who died neonatally with congenital eventration of the diaphragm was found by <a href="#38" class="mim-tip-reference" title="Moerman, P., Fryns, J.-P., Devlieger, H., Van Assche, A., Lauweryns, J. &lt;strong&gt;Congenital eventration of the diaphragm: an unusual cause of intractable neonatal respiratory distress with variable etiology.&lt;/strong&gt; Am. J. Med. Genet. 27: 213-218, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3605197/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3605197&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320270124&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3605197">Moerman et al. (1987)</a> to have congenital myotonic dystrophy. In studies through 5 generations of a family, <a href="#40" class="mim-tip-reference" title="Oldfors, A., Kyllerman, M., Wahlstrom, J., Darnfors, C., Henriksson, K. G. &lt;strong&gt;X-linked myotubular myopathy: clinical and pathological findings in a family.&lt;/strong&gt; Clin. Genet. 36: 5-14, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2670345/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2670345&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1989.tb03360.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2670345">Oldfors et al. (1989)</a> described 8 affected individuals in 4 generations connected through carrier females. Death in the first days of life from asphyxia was common, as was polyhydramnios. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3605197+2670345" 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="#27" class="mim-tip-reference" title="Joseph, M., Pai, G. S., Holden, K. R., Herman, G. &lt;strong&gt;X-linked myotubular myopathy: clinical observations in ten additional cases.&lt;/strong&gt; Am. J. Med. Genet. 59: 168-173, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8588581/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8588581&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320590211&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8588581">Joseph et al. (1995)</a> reported 10 additional cases distributed in 6 unrelated families. They noted birth length greater than the 90th percentile and large head circumference with or without hydrocephalus in 70% of cases, narrow, elongated face in 80%, and slender, long digits in 60%. There was concordance in the occurrence and severity of hydrocephalus in most sib pairs. The above features in a 'floppy' male infant served as clues for early clinical diagnosis which could then be confirmed by muscle biopsy. Development of polyhydramnios was observed in the third trimester of an at-risk dizygotic twin gestation monitored by serosonography, with confirmation of the diagnosis of myotubular myopathy at birth. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8588581" 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="#25" class="mim-tip-reference" title="Herman, G. E., Finegold, M., de Gouyon, B., Metzenberg, A. &lt;strong&gt;Medical complications in long-term survivors with X-linked myotubular myopathy.&lt;/strong&gt; J. Pediat. 134: 206-214, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9931531/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9931531&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(99)70417-8&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9931531">Herman et al. (1999)</a> presented a clinical review of patients with MTM1, using data obtained through medical record review and family interview on 55 male subjects from 49 independent North American families for which a mutation was identified in the MTM1 gene by direct genomic sequencing. Seventy-four percent (26 of 35) over the age of 1 year were living, and 80% remained completely or partially ventilator-dependent. Cognitive development was normal, in the absence of significant hypoxia, and the muscle disorder appeared nonprogressive. Medical complications observed in some long-term survivors included pyloric stenosis, spherocytosis, gallstones, kidney stones or nephrocalcinosis, a vitamin K-responsive bleeding diathesis, and rapid linear growth with advanced bone age. Six patients had biochemical evidence of liver dysfunction, and 2 died after significant liver hemorrhage. The authors suggested that the prognosis for MTM1 may not be as poor as previously reported. They also noted that patients should be carefully monitored for potentially life-threatening medical complications in other (nonmuscle) organ systems. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9931531" 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>Pathologic Findings</em></strong></p><p>
<a href="#3" class="mim-tip-reference" title="Askanas, V., Engel, W. K., Reddy, N. B., Barth, P. G., Bethlem, J., Krauss, D. R., Hibberd, M. E., Lawrence, J. V., Carter, L. S. &lt;strong&gt;X-linked recessive congenital muscle fiber hypotrophy with central nuclei: abnormalities of growth and adenylate cyclase in muscle tissue cultures.&lt;/strong&gt; Arch. Neurol. 36: 604-609, 1979.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/573609/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;573609&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archneur.1979.00500460038003&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="573609">Askanas et al. (1979)</a> found that muscle cells established from biopsy specimens in 2 patients MTM1 showed an unusual ability to proliferate through numerous passages. Ultrastructurally, the cultured muscle fibers appeared immature even after several weeks. The nuclei were large, the number of ribosomes greatly increased, the myofibrils remained unstriated, and glycogen was accumulated in large lakes. The level of adenylate cyclase in membranes was reduced. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=573609" 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="#42" class="mim-tip-reference" title="Sarnat, H. B., Roth, S. I., Jimenez, J. F. &lt;strong&gt;Neonatal myotubular myopathy: neuropathy and failure of postnatal maturation of fetal muscle.&lt;/strong&gt; Canad. J. Neurol. Sci. 8: 313-320, 1981.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7326611/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7326611&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1017/s0317167100043444&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7326611">Sarnat et al. (1981)</a> reported the case of an affected infant. At 5 days of age, a muscle biopsy revealed that more than 90% of muscle fibers fulfilled histologic, histochemical, and electron microscopic criteria of fetal myotubules (8 to 15 weeks of gestation). The infant died unexpectedly at 9 months of age of a seemingly unrelated cause, spontaneous rupture of a multifocal cavernous hemangioma of the liver. Postmortem examination revealed that progressive maturation of the fetal muscle had not occurred postnatally, and this maturational arrest was generalized to all striated muscles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7326611" 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>Obligate Female Carriers</em></strong></p><p>
<a href="#24" class="mim-tip-reference" title="Heckmatt, J. Z., Sewry, C. A., Hodes, D., Dubowitz, V. &lt;strong&gt;Congenital centronuclear (myotubular) myopathy: a clinical, pathological and genetic study in eight children.&lt;/strong&gt; Brain 108: 941-964, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4075080/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4075080&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/brain/108.4.941&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4075080">Heckmatt et al. (1985)</a> reported mild facial weakness and, on muscle biopsy, increased variability in fiber size in an obligate carrier of the X-linked type. <a href="#28" class="mim-tip-reference" title="Keppen, L. D., Husain, M. M., Woody, R. C. &lt;strong&gt;X-linked myotubular myopathy: intrafamilial variability and normal muscle biopsy in a heterozygous female.&lt;/strong&gt; Clin. Genet. 32: 95-99, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3652496/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3652496&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1987.tb03332.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3652496">Keppen et al. (1987)</a> found a normal muscle biopsy in a woman who had 2 affected sons by different fathers, indicating that a normal muscle biopsy in the mother cannot exclude X-linked inheritance. Clinical examination of 2 obligatory carriers by <a href="#40" class="mim-tip-reference" title="Oldfors, A., Kyllerman, M., Wahlstrom, J., Darnfors, C., Henriksson, K. G. &lt;strong&gt;X-linked myotubular myopathy: clinical and pathological findings in a family.&lt;/strong&gt; Clin. Genet. 36: 5-14, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2670345/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2670345&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1989.tb03360.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2670345">Oldfors et al. (1989)</a> showed no muscle weakness, but muscle biopsy showed pathologic changes including greatly increased variability of fiber size and many fibers with central nuclei. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4075080+3652496+2670345" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In agreement with recessive inheritance of X-linked myotubular myopathy, heterozygous carriers of MTM1 gene mutations are usually asymptomatic, although mild facial weakness has been reported (<a href="#24" class="mim-tip-reference" title="Heckmatt, J. Z., Sewry, C. A., Hodes, D., Dubowitz, V. &lt;strong&gt;Congenital centronuclear (myotubular) myopathy: a clinical, pathological and genetic study in eight children.&lt;/strong&gt; Brain 108: 941-964, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4075080/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4075080&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/brain/108.4.941&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4075080">Heckmatt et al., 1985</a>; <a href="#57" 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. &lt;strong&gt;The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies.&lt;/strong&gt; J. Med. Genet. 32: 673-679, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8544184/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8544184&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.32.9.673&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8544184">Wallgren-Pettersson et al., 1995</a>). <a href="#51" class="mim-tip-reference" title="Tanner, S. M., Orstavik, K. H., Kristiansen, M., Lev, D., Lerman-Sagie, T., Sadeh, M., Liechti-Gallati, S. &lt;strong&gt;Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother.&lt;/strong&gt; Hum. Genet. 104: 249-253, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10323249/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10323249&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s004390050943&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10323249">Tanner et al. (1999)</a> reported a 39-year-old Yemenite woman, who was the offspring of first-cousin parents, with a histologic and clinical phenotype consistent with X-linked myotubular myopathy. Gait difficulty was first noted at the age of 5 years. She showed weakness first in the lower and then in the upper extremities and underwent corrective surgery for deformity of the ankles. The patient had a normal intellectual capacity and was still ambulant. She had an elongated face with prognathism. Her speech was dysarthric with a nasal quality. She had marked kyphoscoliosis and bilateral pes equinovarus. There was moderate weakness of her facial muscles and neck flexors and winging of the right scapula. The proximal upper limb muscles and the distal hand muscles were weak and wasted, whereas the forearm muscles showed almost normal strength. In the lower leg, the pattern of weakness was similar with severe pelvic girdle and distal weakness. One of the patient's sisters gave birth to at least 2 boys with established histopathologic features of X-linked myotubular myopathy. The proband was shown to be a carrier of the most common MTM1 gene mutation (<a href="/entry/300415#0006">300415.0006</a>), which is associated with a severe phenotype in males. The patient was found to have an extremely skewed X-inactivation pattern, thus explaining her abnormal phenotype. The mother, on the other hand, was a nonmanifesting carrier but likewise had an extremely skewed X-inactivation pattern in the opposite direction. The findings indicated a possible inheritance of skewed X inactivation. Linkage analysis excluded involvement of the XIST locus (<a href="/entry/314670">314670</a>) at Xq13. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10323249+8544184+4075080" 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="#49" class="mim-tip-reference" title="Sutton, I. J., Winer, J. B., Norman, A. N., Liechti-Gallati, S., MacDonald, F. &lt;strong&gt;Limb girdle and facial weakness in female carriers of X-linked myotubular myopathy mutations.&lt;/strong&gt; Neurology 57: 900-902, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11552027/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11552027&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.57.5.900&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11552027">Sutton et al. (2001)</a> described a female heterozygous for an R224X mutation of the MTM1 gene (<a href="#0008">310400.0008</a>) with limb-girdle and facial weakness typical of the cases reported by <a href="#51" class="mim-tip-reference" title="Tanner, S. M., Orstavik, K. H., Kristiansen, M., Lev, D., Lerman-Sagie, T., Sadeh, M., Liechti-Gallati, S. &lt;strong&gt;Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother.&lt;/strong&gt; Hum. Genet. 104: 249-253, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10323249/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10323249&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s004390050943&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10323249">Tanner et al. (1999)</a> and <a href="#22" class="mim-tip-reference" title="Hammans, S. R., Robinson, D. O., Moutou, C., Kennedy, C. R., Dennis, N. R., Hughes, P. J., Ellison, D. W. &lt;strong&gt;A clinical and genetic study of a manifesting heterozygote with X-linked myotubular myopathy.&lt;/strong&gt; Neuromusc. Disord. 10: 133-137, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10714588/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10714588&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0960-8966(99)00073-5&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10714588">Hammans et al. (2000)</a>. However, in their patient, <a href="#49" class="mim-tip-reference" title="Sutton, I. J., Winer, J. B., Norman, A. N., Liechti-Gallati, S., MacDonald, F. &lt;strong&gt;Limb girdle and facial weakness in female carriers of X-linked myotubular myopathy mutations.&lt;/strong&gt; Neurology 57: 900-902, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11552027/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11552027&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.57.5.900&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11552027">Sutton et al. (2001)</a> found no skewed X-chromosome inactivation in either lymphocyte or muscle DNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10323249+10714588+11552027" 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="#46" class="mim-tip-reference" title="Schara, U., Kress, W., Tucke, J., Mortier, W. &lt;strong&gt;X-linked myotubular myopathy in a female infant caused by a new MTM1 gene mutation.&lt;/strong&gt; Neurology 60: 1363-1365, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12707446/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12707446&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.wnl.0000058763.90924.fa&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12707446">Schara et al. (2003)</a> reported a female with prenatal/neonatal onset of clinical symptoms due to myotubular myopathy, who had a heterozygous mutation in the MTM1 gene (<a href="/entry/300415#0009">300415.0009</a>). During pregnancy, fetal movements were reduced. After birth, she showed severe hypotonia, dyspnea, a weak cry, absent tendon reflexes, a high-arched palate, and a right-sided ptosis. She later had limb-girdle and facial muscle weakness and a waddling gait. Skeletal muscle biopsy showed a wide variation of fiber size and numerous internal nuclei. <a href="#46" class="mim-tip-reference" title="Schara, U., Kress, W., Tucke, J., Mortier, W. &lt;strong&gt;X-linked myotubular myopathy in a female infant caused by a new MTM1 gene mutation.&lt;/strong&gt; Neurology 60: 1363-1365, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12707446/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12707446&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.wnl.0000058763.90924.fa&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12707446">Schara et al. (2003)</a> noted the more severe clinical course in this female compared to other reported affected females and emphasized the prenatal onset of symptoms. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12707446" 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="#20" class="mim-tip-reference" title="Grogan, P. M., Tanner, S. M., Orstavik, K. H., Knudsen, G. P. S., Saperstein, D. S., Vogel, H., Barohn, R. J., Herbelin, L. L., McVey, A. L., Katz, J. S. &lt;strong&gt;Myopathy with skeletal asymmetry and hemidiaphragm elevation is caused by myotubularin mutations.&lt;/strong&gt; Neurology 64: 1638-1640, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15883335/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15883335&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.WNL.0000160393.99621.D0&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15883335">Grogan et al. (2005)</a> reported 3 sisters with myotubular myopathy confirmed by genetic analysis of the MTM1 gene. All reported unilateral weakness and atrophy of the upper limb since childhood, and the 2 older sisters had onset of gradually progressive generalized weakness in their thirties. X-rays of the hand in 1 patient showed skeletal asymmetry. Two of the sisters had an elevated hemidiaphragm on the ipsilateral side to their upper limb involvement. Five additional asymptomatic female family members carried the same mutation and showed skewed X-inactivation favoring the paternal X chromosome. A fourth unrelated woman with an MTM1 mutation had left facial and left upper and lower limb weakness and atrophy since age 6 years. She developed progressive generalized weakness at age 40 years; x-ray showed elevated left hemidiaphragm. X-inactivation was markedly skewed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15883335" 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>
</span>
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<div>
<a id="diagnosis" class="mim-anchor"></a>
<h4 href="#mimDiagnosisFold" id="mimDiagnosisToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimDiagnosisToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Diagnosis</strong>
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</h4>
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<div id="mimDiagnosisFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#7" class="mim-tip-reference" title="Braga, S. E., Gerber, A., Meier, C., Weiersmuller, A., Zimmermann, A., Herrmann, U., Liechti, S., Moser, H. &lt;strong&gt;Severe neonatal asphyxia due to X-linked centronuclear myopathy.&lt;/strong&gt; Europ. J. Pediat. 150: 132-135, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2279510/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2279510&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF02072056&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2279510">Braga et al. (1990)</a> reported 7 cases from 3 families, calling attention to the prenatal onset and rapid progression of the disorder. They concluded that needle biopsy of muscle, showing an increased number of centrally located nuclei with perinuclear halos, is a 'powerful tool for early diagnosis.' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2279510" 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="#43" class="mim-tip-reference" title="Sarnat, H. B. &lt;strong&gt;Myotubular myopathy: arrest of morphogenesis of myofibres associated with persistence of fetal vimentin and desmin: four cases compared with fetal and neonatal muscle.&lt;/strong&gt; Can. J. Neurol. Sci. 17: 109-123, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2357647/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2357647&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1017/s0317167100030304&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2357647">Sarnat (1990)</a> found by immunohistochemical studies persistence of desmin and vimentin in 2 female carriers of the X-linked form, which they thought might be useful in carrier detection. In 3 mothers of boys with X-linked centronuclear myopathy, one of them an obligate carrier, <a href="#8" class="mim-tip-reference" title="Breningstall, G. N., Grover, W. D., Marks, H. G. &lt;strong&gt;Maternal muscle biopsy in X-linked recessive centronuclear (myotubular) myopathy.&lt;/strong&gt; Am. J. Med. Genet. 39: 13-18, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1867257/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1867257&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320390105&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1867257">Breningstall et al. (1991)</a> found abnormalities of nonspecific character on muscle biopsy. They reviewed other experience with muscle biopsy in possible carriers and concluded that a more specific tissue marker is required before muscle biopsy can facilitate carrier identification. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1867257+2357647" 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="#33" class="mim-tip-reference" title="Laporte, J., Kress, W., Mandel, J.-L. &lt;strong&gt;Diagnosis of X-linked myotubular myopathy by detection of myotubularin.&lt;/strong&gt; Ann. Neurol. 50: 42-46, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11456308/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11456308&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ana.1033&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11456308">Laporte et al. (2001)</a> found that 87% (21/24) of patients with known MTM1 mutations showed reduced myotubularin levels in a variety of cell lines, as detected by immunoprecipitation followed by Western blot analysis. Four patients were diagnosed by immunoprecipitation before mutations in the MTM1 gene were identified. The authors suggested that this would be a rapid and helpful method for initial diagnosis of XLMTM. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11456308" 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>Differential Diagnosis</em></strong></p><p>
<a href="#24" class="mim-tip-reference" title="Heckmatt, J. Z., Sewry, C. A., Hodes, D., Dubowitz, V. &lt;strong&gt;Congenital centronuclear (myotubular) myopathy: a clinical, pathological and genetic study in eight children.&lt;/strong&gt; Brain 108: 941-964, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4075080/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4075080&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/brain/108.4.941&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4075080">Heckmatt et al. (1985)</a> reported in detail on 8 unrelated children. They pointed out that the severity, mode of presentation and pedigree pattern permit definition of 3 types: a severe neonatal X-linked recessive type, a less severe infantile or juvenile autosomal recessive type (<a href="/entry/255200">255200</a>), and a yet milder autosomal dominant type (<a href="/entry/160150">160150</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4075080" 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="#57" 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. &lt;strong&gt;The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies.&lt;/strong&gt; J. Med. Genet. 32: 673-679, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8544184/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8544184&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.32.9.673&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8544184">Wallgren-Pettersson et al. (1995)</a> reviewed data relevant to the differential diagnosis of the X-linked, autosomal dominant, and autosomal recessive forms of myotubular myopathy. Whereas the X-linked recessive form is well documented, information is scantier on the autosomal dominant and autosomal recessive forms. No clear consensus exists regarding the use of the alternative names myotubular or central nuclear myopathy. Quantitative clinical differences existed between the 3 types, in regard to age at onset, severity of the disease, and prognosis, and also regarding some of the clinical characteristics. The autosomal dominant form had a later onset and milder course than the X-linked form, and the autosomal recessive form was intermediate in both respects. <a href="#57" 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. &lt;strong&gt;The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies.&lt;/strong&gt; J. Med. Genet. 32: 673-679, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8544184/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8544184&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.32.9.673&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8544184">Wallgren-Pettersson et al. (1995)</a> noted that determining the mode of inheritance and prognosis in individual families, especially those with a single male patient, poses a problem. <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>
</span>
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</div>
</div>
<div>
<a id="inheritance" class="mim-anchor"></a>
<h4 href="#mimInheritanceFold" id="mimInheritanceToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimInheritanceToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Inheritance</strong>
</span>
</h4>
</div>
<div id="mimInheritanceFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p>The families reported by <a href="#55" class="mim-tip-reference" title="Van Wijngaarden, G. K., Fleury, P., Bethlem, J., Meijer, A. E. F. H. &lt;strong&gt;Familial &#x27;myotubular&#x27; myopathy.&lt;/strong&gt; Neurology 19: 901-908, 1969.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5816884/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;5816884&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.19.9.901&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="5816884">Van Wijngaarden et al. (1969)</a>, <a href="#6" class="mim-tip-reference" title="Bradley, W. G., Price, D. L., Watanabe, C. K. &lt;strong&gt;Familial centronuclear myopathy.&lt;/strong&gt; J. Neurol. Neurosurg. Psychiat. 33: 687-693, 1970.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5478951/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;5478951&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jnnp.33.5.687&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="5478951">Bradley et al. (1970)</a>, <a href="#37" class="mim-tip-reference" title="Meyers, K. R., Golomb, H. M., Hansen, J. L., McKusick, V. A. &lt;strong&gt;Familial neuromuscular disease with &#x27;myotubes.&#x27;.&lt;/strong&gt; Clin. Genet. 5: 327-337, 1974.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4136736/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4136736&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1974.tb01702.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4136736">Meyers et al. (1974)</a>, <a href="#24" class="mim-tip-reference" title="Heckmatt, J. Z., Sewry, C. A., Hodes, D., Dubowitz, V. &lt;strong&gt;Congenital centronuclear (myotubular) myopathy: a clinical, pathological and genetic study in eight children.&lt;/strong&gt; Brain 108: 941-964, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4075080/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4075080&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/brain/108.4.941&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4075080">Heckmatt et al. (1985)</a>, <a href="#28" class="mim-tip-reference" title="Keppen, L. D., Husain, M. M., Woody, R. C. &lt;strong&gt;X-linked myotubular myopathy: intrafamilial variability and normal muscle biopsy in a heterozygous female.&lt;/strong&gt; Clin. Genet. 32: 95-99, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3652496/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3652496&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1987.tb03332.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3652496">Keppen et al. (1987)</a>, <a href="#38" class="mim-tip-reference" title="Moerman, P., Fryns, J.-P., Devlieger, H., Van Assche, A., Lauweryns, J. &lt;strong&gt;Congenital eventration of the diaphragm: an unusual cause of intractable neonatal respiratory distress with variable etiology.&lt;/strong&gt; Am. J. Med. Genet. 27: 213-218, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3605197/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3605197&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320270124&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3605197">Moerman et al. (1987)</a>, <a href="#40" class="mim-tip-reference" title="Oldfors, A., Kyllerman, M., Wahlstrom, J., Darnfors, C., Henriksson, K. G. &lt;strong&gt;X-linked myotubular myopathy: clinical and pathological findings in a family.&lt;/strong&gt; Clin. Genet. 36: 5-14, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2670345/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2670345&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1989.tb03360.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2670345">Oldfors et al. (1989)</a>, and <a href="#27" class="mim-tip-reference" title="Joseph, M., Pai, G. S., Holden, K. R., Herman, G. &lt;strong&gt;X-linked myotubular myopathy: clinical observations in ten additional cases.&lt;/strong&gt; Am. J. Med. Genet. 59: 168-173, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8588581/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8588581&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320590211&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8588581">Joseph et al. (1995)</a> supported X-linked recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4075080+5478951+5816884+2670345+3652496+4136736+3605197+8588581" 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="#54" class="mim-tip-reference" title="Torres, C. F., Griggs, R. C., Goetz, J. P. &lt;strong&gt;Severe neonatal centronuclear myopathy with autosomal dominant inheritance.&lt;/strong&gt; Arch. Neurol. 42: 1011-1014, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2994607/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2994607&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archneur.1985.04060090093023&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2994607">Torres et al. (1985)</a> reported the cases of 2 brothers with severe neonatal centronuclear myopathy and their mother who had evidence of a skeletal muscle, peripheral nerve, and brain-stem disorder. They suggested that all 3 had the same disorder inherited as an autosomal dominant with variable expressivity. The 2 brothers died at 4 days and 5 years of age. The authors noted that neonatal death or death in infancy occurs with the X-linked recessive form but has not been reported with the autosomal dominant form. <a href="#36" class="mim-tip-reference" title="McKusick, V. A. &lt;strong&gt;Personal Communication.&lt;/strong&gt; Baltimore, Md. 1985."None>McKusick (1985)</a> thought it likely that this family was an instance of the X-linked recessive form with manifestations in a heterozygous female. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2994607" 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>Germline mosaicism in the mother of boys with MTM1 was observed by <a href="#50" class="mim-tip-reference" title="Tanner, S. M., Laporte, J., Guiraud-Chaumeil, C., Liechti-Gallati, S. &lt;strong&gt;Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene.&lt;/strong&gt; Hum. Mutat. 11: 62-68, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9450905/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9450905&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(SICI)1098-1004(1998)11:1&lt;62::AID-HUMU10&gt;3.0.CO;2-X&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9450905">Tanner et al. (1998)</a>, <a href="#56" class="mim-tip-reference" title="Vincent, M. C., Guiraud-Chaumeil, C., Laporte, J., Manouvrier-Hanu, S., Mandel, J. L. &lt;strong&gt;Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneity.&lt;/strong&gt; J. Med. Genet. 35: 241-243, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9541111/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9541111&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.35.3.241&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9541111">Vincent et al. (1998)</a>, and <a href="#23" class="mim-tip-reference" title="Hane, B. G., Rogers, R. C., Schwartz, C. E. &lt;strong&gt;Germline mosaicism in X-linked myotubular myopathy.&lt;/strong&gt; Clin. Genet. 56: 77-81, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10466421/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10466421&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1034/j.1399-0004.1999.560111.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10466421">Hane et al. (1999)</a>. <a href="#23" class="mim-tip-reference" title="Hane, B. G., Rogers, R. C., Schwartz, C. E. &lt;strong&gt;Germline mosaicism in X-linked myotubular myopathy.&lt;/strong&gt; Clin. Genet. 56: 77-81, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10466421/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10466421&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1034/j.1399-0004.1999.560111.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10466421">Hane et al. (1999)</a> found that these 3 cases of germline mosaicism represented 23% of a total of 13 new mutations. They cited reports that germline mosaicism had been observed in 14% of new mutations in Duchenne muscular dystrophy (see <a href="/entry/310200">310200</a>), 10% of new mutations in retinoblastoma (<a href="/entry/180200">180200</a>), and 19% of new mutations in facioscapulohumeral muscular dystrophy (see <a href="/entry/158900">158900</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10466421+9450905+9541111" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="pathogenesis" class="mim-anchor"></a>
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<strong>Pathogenesis</strong>
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<p>In normal muscle, mature myofibers have peripherally placed nuclei, whereas only immature myotubes have nuclei centrally placed. <a href="#47" class="mim-tip-reference" title="Spiro, A. J., Shy, G. M., Gonatas, N. K. &lt;strong&gt;Myotubular myopathy.&lt;/strong&gt; Arch. Neurol. 14: 1-14, 1966.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4954227/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4954227&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archneur.1966.00470070005001&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4954227">Spiro et al. (1966)</a> had suggested that the pathogenesis of this disorder is a failure of maturation. Additional evidence to support this hypothesis comes from demonstration of persistence of vimentin (<a href="/entry/193060">193060</a>) in centronuclear myopathy fibers (<a href="#42" class="mim-tip-reference" title="Sarnat, H. B., Roth, S. I., Jimenez, J. F. &lt;strong&gt;Neonatal myotubular myopathy: neuropathy and failure of postnatal maturation of fetal muscle.&lt;/strong&gt; Canad. J. Neurol. Sci. 8: 313-320, 1981.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7326611/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7326611&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1017/s0317167100043444&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7326611">Sarnat et al., 1981</a>), persistence of prenatal myosin heavy chains (<a href="#45" class="mim-tip-reference" title="Sawchak, J. A., Sher, J. H., Norman, M. G., Kula, R. W., Shafiq, S. A. &lt;strong&gt;Centronuclear myopathy heterogeneity: distinction of clinical types by myosin isoform patterns.&lt;/strong&gt; Neurology 41: 135-140, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1824643/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1824643&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.41.1.135&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1824643">Sawchak et al., 1991</a>), and persistence of the N-CAM cell adhesion molecule (<a href="/entry/116930">116930</a>; <a href="#19" class="mim-tip-reference" title="Fidzianska, A., Warlo, I., Goebel, H. H. &lt;strong&gt;Neonatal centronuclear myopathy with N-Cam decorated myotubes.&lt;/strong&gt; Neuropediatrics 25: 158-161, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7969799/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7969799&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1055/s-2008-1073015&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7969799">Fidzianska et al., 1994</a>). <a href="#43" class="mim-tip-reference" title="Sarnat, H. B. &lt;strong&gt;Myotubular myopathy: arrest of morphogenesis of myofibres associated with persistence of fetal vimentin and desmin: four cases compared with fetal and neonatal muscle.&lt;/strong&gt; Can. J. Neurol. Sci. 17: 109-123, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2357647/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2357647&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1017/s0317167100030304&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2357647">Sarnat (1990)</a> and <a href="#44" class="mim-tip-reference" title="Sarnat, H. B. &lt;strong&gt;Vimentin and desmin in maturing skeletal muscle and developmental myopathies.&lt;/strong&gt; Neurology 42: 1616-1624, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1641160/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1641160&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.42.8.1616&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1641160">Sarnat (1992)</a> demonstrated that both vimentin and desmin (<a href="/entry/125660">125660</a>) persist in the X-linked form; as a rule, this does not occur in the autosomal dominant form of the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7326611+2357647+1824643+7969799+1641160+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="#54" class="mim-tip-reference" title="Torres, C. F., Griggs, R. C., Goetz, J. P. &lt;strong&gt;Severe neonatal centronuclear myopathy with autosomal dominant inheritance.&lt;/strong&gt; Arch. Neurol. 42: 1011-1014, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2994607/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2994607&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archneur.1985.04060090093023&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2994607">Torres et al. (1985)</a> reviewed evidence that the central and peripheral nervous systems are involved in this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2994607" 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>Using cDNA microarray analysis, <a href="#39" class="mim-tip-reference" title="Noguchi, S., Fujita, M., Murayama, K., Kurokawa, R., Nishino, I. &lt;strong&gt;Gene expression analyses in X-linked myotubular myopathy.&lt;/strong&gt; Neurology 65: 732-737, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16157907/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16157907&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.wnl.0000174625.67484.4d&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16157907">Noguchi et al. (2005)</a> found that skeletal muscle from patients with genetically confirmed MTM1 had upregulation of transcripts for cytoskeletal and extracellular matrix proteins and downregulation of genes involved in energy metabolism, especially those involved in the glycolytic pathway. The authors suggested that increased remodeling of cytoskeletal and extracellular architecture within muscle fibers contributes to fiber atrophy and intracellular organelle disorganization seen in muscle biopsies from affected patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16157907" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="mapping" class="mim-anchor"></a>
<h4 href="#mimMappingFold" id="mimMappingToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimMappingToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Mapping</strong>
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</h4>
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<div id="mimMappingFold" class="collapse in mimTextToggleFold">
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<p><a href="#58" class="mim-tip-reference" title="Williams, H., Cole, G., Thomas, N., Brown, C., Sarfarazi, M. &lt;strong&gt;Lethal X-linked myotubular myopathy.(Abstract)&lt;/strong&gt; J. Med. Genet. 22: 138, 1985."None>Williams et al. (1985)</a> described preliminary family studies with DNA polymorphisms suggesting that the gene for myotubular myopathy is on Xp. From studies using DNA markers in 1 Welsh family and 1 Swiss family, however, the same group (Thomas et al. (<a href="#52" class="mim-tip-reference" title="Thomas, N. S. T., Sarfarazi, M., Roberts, K., Williams, H., Cole, G., Liechti-Gallati, S., Harper, P. S. &lt;strong&gt;X-linked myotubular myopathy (MTM1): evidence for linkage to Xq28 DNA markers.(Abstract)&lt;/strong&gt; Cytogenet. Cell Genet. 46: 704, 1987."None>1987</a>, <a href="#53" class="mim-tip-reference" title="Thomas, N. S. T., Williams, H., Cole, G., Roberts, K., Clarke, A., Liechti-Gallati, S., Braga, S., Gerber, A., Meier, C., Moser, H., Harper, P. S. &lt;strong&gt;X linked neonatal centronuclear/myotubular myopathy: evidence for linkage to Xq28 DNA marker loci.&lt;/strong&gt; J. Med. Genet. 27: 284-287, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2352256/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2352256&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.27.5.284&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2352256">1990</a>)) found no recombination with 4 markers for Xq28, including those for colorblindness and factor VIII (<a href="/entry/300841">300841</a>). The maximum lod score was 3.74 at theta = 0.00 for one of the markers, and if the information from the other markers was included as a multipoint linkage analysis, the lod score became impressively high. Darnfors et al. (<a href="#14" class="mim-tip-reference" title="Darnfors, C., Larsson, H. E. B., Oldfors, A., Kyllerman, M., Gustavson, K.-H., Bjursell, G., Wahlstrom, J. &lt;strong&gt;X-linked myotubular myopathy: a linkage study.(Abstract)&lt;/strong&gt; Cytogenet. Cell Genet. 51: 983, 1989."None>1989</a>, <a href="#15" class="mim-tip-reference" title="Darnfors, C., Larsson, H. E. B., Oldfors, A., Kyllerman, M., Gustavson, K.-H., Bjursell, G., Wahlstrom, J. &lt;strong&gt;X-linked myotubular myopathy: a linkage study.&lt;/strong&gt; Clin. Genet. 37: 335-340, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1972354/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1972354&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1990.tb03515.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1972354">1990</a>) added data bringing the combined maximum lod score to 5.12 at theta = 0.0. <a href="#48" class="mim-tip-reference" title="Starr, J., Lamont, M., Iselius, L., Harvey, J., Heckmatt, J. &lt;strong&gt;A linkage study of a large pedigree with X linked centronuclear myopathy.&lt;/strong&gt; J. Med. Genet. 27: 281-283, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2352255/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2352255&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.27.5.281&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2352255">Starr et al. (1990)</a> also found linkage to markers in band Xq28; no recombinants were found. Both <a href="#48" class="mim-tip-reference" title="Starr, J., Lamont, M., Iselius, L., Harvey, J., Heckmatt, J. &lt;strong&gt;A linkage study of a large pedigree with X linked centronuclear myopathy.&lt;/strong&gt; J. Med. Genet. 27: 281-283, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2352255/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2352255&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.27.5.281&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2352255">Starr et al. (1990)</a> and <a href="#53" class="mim-tip-reference" title="Thomas, N. S. T., Williams, H., Cole, G., Roberts, K., Clarke, A., Liechti-Gallati, S., Braga, S., Gerber, A., Meier, C., Moser, H., Harper, P. S. &lt;strong&gt;X linked neonatal centronuclear/myotubular myopathy: evidence for linkage to Xq28 DNA marker loci.&lt;/strong&gt; J. Med. Genet. 27: 284-287, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2352256/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2352256&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.27.5.284&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2352256">Thomas et al. (1990)</a> quoted a personal communication from J. L. Mandel indicating the possibility of a second form of X-linked centronuclear myopathy determined by a gene at a site other than Xq26-qter. <a href="#35" class="mim-tip-reference" title="Liechti-Gallati, S., Muller, B., Grimm, T., Kress, W., Muller, C., Boltshauser, E., Moser, H., Braga, S. &lt;strong&gt;X-linked centronuclear myopathy: mapping the gene to Xq28.&lt;/strong&gt; Neuromusc. Disord. 1: 239-245, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1822801/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1822801&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0960-8966(91)90096-b&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1822801">Liechti-Gallati et al. (1991)</a> likewise mapped this disorder to Xq28 through linkage analysis of 8 families. They placed the gene close to F8C. <a href="#34" class="mim-tip-reference" title="Lehesjoki, A.-E., Sankila, E.-M., Miao, J., Somer, M., Salonen, R., Rapola, J., de la Chapelle, A. &lt;strong&gt;X linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28.&lt;/strong&gt; J. Med. Genet. 27: 288-291, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1972196/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1972196&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.27.5.288&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1972196">Lehesjoki et al. (1990)</a> found 1 recombinant, indicating that MTM1 is proximal to F8C. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2352256+1822801+1972354+1972196+2352255" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#26" class="mim-tip-reference" title="Janssen, E. A. M., Hensels, G. W., van Oost, B. A., Hamel, B. C. J., Kemp, S., Baas, F., Weber, J. W., Barth, P. G., Bolhuis, P. A. &lt;strong&gt;The gene for X-linked myotubular myopathy is located in an 8 Mb region at the border of Xq27.3 and Xq28.&lt;/strong&gt; Neuromusc. Disord. 4: 455-461, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7881289/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7881289&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0960-8966(94)90084-1&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7881289">Janssen et al. (1994)</a> found a maximum 2-point lod score of 4.00 at theta = 0.0 for the marker DXS466. Three recombinations were found with other markers in this region, placing the XLMTM gene in the 8-Mb (11 cM) region between DXS297 and DXS134. <a href="#13" class="mim-tip-reference" title="Dahl, N., Samson, F., Thomas, N. S. T., Hu, L. J., Gong, W., Herman, G., Laporte, J., Kioschis, P., Poustka, A., Mandel, J. L. &lt;strong&gt;X linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684).&lt;/strong&gt; J. Med. Genet. 31: 922-924, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7891372/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7891372&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.31.12.922&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7891372">Dahl et al. (1994)</a> reported 2 new families with MTM1 that showed recombination with either DXS304 or DXS52. These families and a third, previously described recombinant family were analyzed with 2 highly polymorphic markers in the interval between the above 2 markers. No recombination with MTM1 and the VNTR DXS455 or the microsatellite DXS1684 was found. Together with the mapping of an interstitial X-chromosome deletion in a female patient with moderate signs of myotubular myopathy, these data allowed <a href="#13" class="mim-tip-reference" title="Dahl, N., Samson, F., Thomas, N. S. T., Hu, L. J., Gong, W., Herman, G., Laporte, J., Kioschis, P., Poustka, A., Mandel, J. L. &lt;strong&gt;X linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684).&lt;/strong&gt; J. Med. Genet. 31: 922-924, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7891372/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7891372&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.31.12.922&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7891372">Dahl et al. (1994)</a> to order the loci as a step toward positional cloning of the gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7881289+7891372" 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="Dahl, N., Hu, L. J., Chery, M., Fardeau, M., Gilgenkrantz, S., Nivelon-Chevallier, A., Sidaner-Noisette, I., Mugneret, F., Gouyon, J. B., Gal, A., Kioschis, P., d&#x27;Urso, M., Mandel, J.-L. &lt;strong&gt;Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region.&lt;/strong&gt; Am. J. Hum. Genet. 56: 1108-1115, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7726166/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7726166&lt;/a&gt;]" pmid="7726166">Dahl et al. (1995)</a> provided further information concerning the patient with the interstitial deletion in Xq27-q28. Analysis of inactive X-specific methylation at the androgen receptor gene showed that the deleted X chromosome was active in approximately 80% of leukocytes. Unbalanced inactivation may account for the moderate MTM1 phenotype and the mental retardation that later developed in the patient. Comparison of this deletion with that carried by a male patient with a severe Hunter syndrome (<a href="/entry/309900">309900</a>) phenotype but no myotubular myopathy, in combination with linkage data on recombinant MTM1 families, led to a positional refinement of the MTM1 locus to a 600-kb region between DXS304 and DXS497. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7726166" 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="#41" class="mim-tip-reference" title="Samson, F., Mesnard, L., Heimburger, M., Hanauer, A., Chevallay, M., Mercadier, J. J., Pelissier, J. F., Feingold, N., Junien, C., Mandel, J.-L., Fardeau, M. &lt;strong&gt;Genetic linkage heterogeneity in myotubular myopathy.&lt;/strong&gt; Am. J. Hum. Genet. 57: 120-126, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7611280/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7611280&lt;/a&gt;]" pmid="7611280">Samson et al. (1995)</a> reported a family with a single case of myotubular myopathy in which linkage analysis, combined with examination of muscle biopsies in females for a determination of carrier status, led them to 'strongly suggest genetic heterogeneity' of this X-linked disorder. <a href="#21" class="mim-tip-reference" title="Guiraud-Chaumeil, C., Vincent, M. C., Laporte, J., Fardeau, M., Samson, F., Mandel, J.-L. &lt;strong&gt;A mutation in the MTM1 gene invalidates a previous suggestion of nonallelic heterogeneity in X-linked myotubular myopathy. (Letter)&lt;/strong&gt; Am. J. Hum. Genet. 60: 1542-1544, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9199578/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9199578&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/S0002-9297(07)64249-9&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9199578">Guiraud-Chaumeil et al. (1997)</a> reanalyzed this family with markers closest to the MTM1 gene on Xq28 and used SSCP analysis on characterized exons to search for mutations in the proband. They identified a missense mutation in the proband (<a href="/entry/300415#0002">300415.0002</a>) that was not present in his mother or in 3 other females who had been thought to be carriers on the basis of detection of some small fibers with centrally located nuclei in their muscle biopsies. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7611280+9199578" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="molecularGenetics" class="mim-anchor"></a>
<h4 href="#mimMolecularGeneticsFold" id="mimMolecularGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimMolecularGeneticsToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
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<strong>Molecular Genetics</strong>
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</h4>
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<p>In a male with X-linked myotubular myopathy, <a href="#31" class="mim-tip-reference" title="Laporte, J., Hu, L. J., Kretz, C., Mandel, J.-L., Kioschis, P., Coy, J. F., Klauck, S. M., Poustka, A., Dahl, N. &lt;strong&gt;A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast.&lt;/strong&gt; Nature Genet. 13: 175-182, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8640223/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8640223&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng0696-175&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8640223">Laporte et al. (1996)</a> identified a missense mutation in the MTM1 gene (<a href="/entry/300415#0001">300415.0001</a>). This was 1 of 4 missense mutations that, together with 3 frameshift mutations, were found in 7 of 60 MTM1 patients studied. Other mutations in the MTM1 were identified in X-linked MTM patients by <a href="#16" class="mim-tip-reference" title="de Gouyon, B. M., Zhao, W., Laporte, J., Mandel, J.-L., Metzenberg, A., Herman, G. E. &lt;strong&gt;Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy.&lt;/strong&gt; Hum. Molec. Genet. 6: 1499-1504, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9285787/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9285787&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/6.9.1499&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9285787">de Gouyon et al. (1997)</a>, <a href="#30" class="mim-tip-reference" title="Laporte, J., Guiraud-Chaumeil, C., Vincent, M.-C., Mandel, J.-L., Tanner, S. M., Liechti-Gallati, S., Wallgren-Pettersson, C., Dahl, N., Kress, W., Bolhuis, P. A., Fardeau, M., Samson, F., Bertini, E., members of the ENMC International Consortium on Myotubular Myopathy. &lt;strong&gt;Mutations in the MTM1 gene implicated in X-linked myotubular myopathy.&lt;/strong&gt; Hum. Molec. Genet. 6: 1505-1511, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9305655/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9305655&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/6.9.1505&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9305655">Laporte et al., 1997</a>, <a href="#50" class="mim-tip-reference" title="Tanner, S. M., Laporte, J., Guiraud-Chaumeil, C., Liechti-Gallati, S. &lt;strong&gt;Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene.&lt;/strong&gt; Hum. Mutat. 11: 62-68, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9450905/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9450905&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(SICI)1098-1004(1998)11:1&lt;62::AID-HUMU10&gt;3.0.CO;2-X&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9450905">Tanner et al. (1998)</a>, <a href="#9" class="mim-tip-reference" title="Buj-Bello, A., Biancalana, V., Moutou, C., Laporte, J., Mandel, J.-L. &lt;strong&gt;Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy.&lt;/strong&gt; Hum. Mutat. 14: 320-325, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10502779/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10502779&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(SICI)1098-1004(199910)14:4&lt;320::AID-HUMU7&gt;3.0.CO;2-O&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10502779">Buj-Bello et al. (1999)</a>, and <a href="#29" class="mim-tip-reference" title="Laporte, J., Biancalana, V., Tanner, S. M., Kress, W., Schneider, V., Wallgren-Pettersson, C., Herger, F., Buj-Bello, A., Blondeau, F., Liechti-Gallati, S., Mandel, J.-L. &lt;strong&gt;MTM1 mutations in X-linked myotubular myopathy.&lt;/strong&gt; Hum. Mutat. 15: 393-409, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10790201/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10790201&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(SICI)1098-1004(200005)15:5&lt;393::AID-HUMU1&gt;3.0.CO;2-R&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10790201">Laporte et al. (2000)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8640223+10502779+9285787+9305655+10790201+9450905" 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="#29" class="mim-tip-reference" title="Laporte, J., Biancalana, V., Tanner, S. M., Kress, W., Schneider, V., Wallgren-Pettersson, C., Herger, F., Buj-Bello, A., Blondeau, F., Liechti-Gallati, S., Mandel, J.-L. &lt;strong&gt;MTM1 mutations in X-linked myotubular myopathy.&lt;/strong&gt; Hum. Mutat. 15: 393-409, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10790201/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10790201&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(SICI)1098-1004(200005)15:5&lt;393::AID-HUMU1&gt;3.0.CO;2-R&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10790201">Laporte et al. (2000)</a> stated that 133 different mutations in the MTM1 gene had been identified as the cause of X-linked myotubular myopathy. They found that most truncating mutations caused a severe and early lethal phenotype, and that some missense mutations were associated with milder forms and prolonged survival, up to 54 years in the first reported family (<a href="#55" class="mim-tip-reference" title="Van Wijngaarden, G. K., Fleury, P., Bethlem, J., Meijer, A. E. F. H. &lt;strong&gt;Familial &#x27;myotubular&#x27; myopathy.&lt;/strong&gt; Neurology 19: 901-908, 1969.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5816884/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;5816884&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.19.9.901&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="5816884">Van Wijngaarden et al., 1969</a>; <a href="#4" class="mim-tip-reference" title="Barth, P. G., Dubowitz, V. &lt;strong&gt;X-linked myotubular myopathy--a long-term follow-up study.&lt;/strong&gt; Europ. J. Paediat. Neurol. 2: 49-56, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10726846/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10726846&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/1090-3798(98)01004-9&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10726846">Barth and Dubowitz, 1998</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5816884+10790201+10726846" 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="#60" class="mim-tip-reference" title="Zanoteli, E., Oliveira, A. S. B., Gabbai, A. A., Laporte, J., Kretz, C., Mandel, J.-L., Buj-Bello, A., Rocha, J. C. C., Perez, A. B. A. &lt;strong&gt;Deletion of both MTM1 and MTMR1 genes in a boy with myotubular myopathy. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 134A: 338-340, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15690409/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15690409&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.30574&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15690409">Zanoteli et al. (2005)</a> reported a male infant with a severe form of X-linked myotubular myopathy and a large deletion of the MTM1 gene encompassing exons 4-15. The patient also had deletion of the telomeric MTMR1 gene (<a href="/entry/300171">300171</a>). Although the authors considered the contiguous gene syndrome associated with abnormal genital development (<a href="/entry/300219">300219</a>), the patient only had cryptorchidism as an anomaly and showed expression of the F18 gene (MAMLD1; <a href="/entry/300120">300120</a>), which is believed to be deleted in that disorder. <a href="#60" class="mim-tip-reference" title="Zanoteli, E., Oliveira, A. S. B., Gabbai, A. A., Laporte, J., Kretz, C., Mandel, J.-L., Buj-Bello, A., Rocha, J. C. C., Perez, A. B. A. &lt;strong&gt;Deletion of both MTM1 and MTMR1 genes in a boy with myotubular myopathy. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 134A: 338-340, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15690409/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15690409&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.30574&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15690409">Zanoteli et al. (2005)</a> concluded that the severe phenotype in this child was due to the large deletion of the MTM1 gene and that the MTMR1 gene is not involved in early sexual development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15690409" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="animalModel" class="mim-anchor"></a>
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<strong>Animal Model</strong>
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<p>X-linked myotubular myopathy was proposed to result from an arrest in myogenesis, as the skeletal muscle from patients contains hypotrophic fibers with centrally located nuclei that resembled fetal myotubes (<a href="#47" class="mim-tip-reference" title="Spiro, A. J., Shy, G. M., Gonatas, N. K. &lt;strong&gt;Myotubular myopathy.&lt;/strong&gt; Arch. Neurol. 14: 1-14, 1966.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4954227/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4954227&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archneur.1966.00470070005001&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4954227">Spiro et al., 1966</a>; <a href="#55" class="mim-tip-reference" title="Van Wijngaarden, G. K., Fleury, P., Bethlem, J., Meijer, A. E. F. H. &lt;strong&gt;Familial &#x27;myotubular&#x27; myopathy.&lt;/strong&gt; Neurology 19: 901-908, 1969.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5816884/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;5816884&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.19.9.901&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="5816884">Van Wijngaarden et al., 1969</a>). To understand the pathophysiologic mechanism of XLMTM, <a href="#10" class="mim-tip-reference" title="Buj-Bello, A., Laugel, V., Messaddeq, N., Zahreddine, H., Laporte, J., Pellissier, J.-F., Mandel, J.-L. &lt;strong&gt;The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice.&lt;/strong&gt; Proc. Nat. Acad. Sci. 99: 15060-15065, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12391329/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12391329&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=12391329[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.212498399&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12391329">Buj-Bello et al. (2002)</a> generated mice lacking myotubularin by homologous recombination. These mice were viable, but their life span was severely reduced. They developed a generalized and progressive myopathy starting at approximately 4 weeks of age, with amyotrophy and accumulation of central nuclei in skeletal muscle fibers leading to death at 6 to 14 weeks of age. <a href="#10" class="mim-tip-reference" title="Buj-Bello, A., Laugel, V., Messaddeq, N., Zahreddine, H., Laporte, J., Pellissier, J.-F., Mandel, J.-L. &lt;strong&gt;The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice.&lt;/strong&gt; Proc. Nat. Acad. Sci. 99: 15060-15065, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12391329/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12391329&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=12391329[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.212498399&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12391329">Buj-Bello et al. (2002)</a> showed that muscle differentiation in knockout mice occurred normally, contrary to expectations. They provided evidence that fibers with centralized myonuclei originate mainly from a structural maintenance defect affecting myotubularin-deficient muscle rather than a regenerative process. In addition, they demonstrated through a conditional gene-targeting approach that skeletal muscle is the primary target of murine XLMTM pathology. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5816884+12391329+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="#17" class="mim-tip-reference" title="Dowling, J. J., Vreede, A. P., Low, S. E., Gibbs, E. M., Kuwada, J. Y., Bonnemann, C. G., Feldman, E. L. &lt;strong&gt;Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy.&lt;/strong&gt; PLoS Genet. 5: e1000372, 2009. Note: Electronic Article.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19197364/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19197364&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19197364[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1371/journal.pgen.1000372&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19197364">Dowling et al. (2009)</a> observed that zebrafish with reduced levels of myotubularin had significantly impaired motor function and obvious histopathologic muscle changes, including abnormally shaped and positioned nuclei and myofiber hypotrophy, as observed in the human disease. Loss of myotubularin caused increased phosphatidylinositol 3-phosphate (PI3P) levels in muscle in vivo. Morpholino knockdown of Mtm1 in zebrafish muscle resulted in abnormalities in the T-tubule and sarcoplasmic reticulum network, similar to T-tubule disorganization observed in skeletal muscle biopsies from patients with myotubular myopathy. Expression of the homologous myotubularin-related proteins Mtmr1 (<a href="/entry/300171">300171</a>) and Mtmr2 (<a href="/entry/603557">603557</a>) could functionally compensate for the loss of myotubularin in zebrafish. <a href="#17" class="mim-tip-reference" title="Dowling, J. J., Vreede, A. P., Low, S. E., Gibbs, E. M., Kuwada, J. Y., Bonnemann, C. G., Feldman, E. L. &lt;strong&gt;Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy.&lt;/strong&gt; PLoS Genet. 5: e1000372, 2009. Note: Electronic Article.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19197364/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19197364&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19197364[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1371/journal.pgen.1000372&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19197364">Dowling et al. (2009)</a> suggested that XLMTM may be linked mechanistically by tubuloreticular abnormalities and defective excitation-contraction coupling to myopathies caused by mutations in the RYR1 gene (<a href="/entry/180901">180901</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19197364" 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="#11" class="mim-tip-reference" title="Cowling, B. S., Chevremont, T., Prokic, I., Kretz, C., Ferry, A., Coirault, C., Koutsopoulos, O., Laugel, V., Romero, N. B., Laporte, J. &lt;strong&gt;Reducing dynamin 2 expression rescues X-linked centronuclear myopathy.&lt;/strong&gt; J. Clin. Invest. 124: 1350-1363, 2014.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/24569376/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;24569376&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=24569376[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI71206&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="24569376">Cowling et al. (2014)</a> found a 1.5-fold increase in DNM2 (<a href="/entry/602378">602378</a>) expression in muscle biopsies isolated from human patients with CNMX and in heterozygous Mtm1 -/y mice compared to controls. Crossing Mtm1 -/y with Dnm2 +/- mice resulted in increased survival and greatly improved muscle strength, suggesting that reduced expression of the Dnm2 gene can rescue the early lethality observed in Mtm1 -/y mice. Skeletal muscle from the double-mutant mice showed decreased or even rescued atrophy compared to Mtm1 -/y mice, and histologic abnormalities such as fiber atrophy and nuclei mispositioning were absent or reduced in the double-mutant mice. Ultrastructural analysis showed improvement of sarcomere organization and triad structures. In addition, muscle-specific reduction of Dnm2, particularly in the diaphragm, was sufficient to rescue the lethal phenotype even after birth and the onset of symptoms. The findings indicated that MTM1 and DNM2 regulate muscle organization and force through a common pathway, and suggested that MTM1 may act as a negative regulator of DNM2. <a href="#11" class="mim-tip-reference" title="Cowling, B. S., Chevremont, T., Prokic, I., Kretz, C., Ferry, A., Coirault, C., Koutsopoulos, O., Laugel, V., Romero, N. B., Laporte, J. &lt;strong&gt;Reducing dynamin 2 expression rescues X-linked centronuclear myopathy.&lt;/strong&gt; J. Clin. Invest. 124: 1350-1363, 2014.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/24569376/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;24569376&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=24569376[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI71206&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="24569376">Cowling et al. (2014)</a> concluded that reduction of DNM2 protein levels may provide a therapeutic approach for patients with CNMX. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24569376" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Ambler1984" class="mim-tip-reference" title="Ambler, M. W., Neave, C., Tutschka, B. G., Pueschel, S. M., Orson, J. M., Singer, D. B. &lt;strong&gt;X-linked recessive myotubular myopathy. I. Clinical and pathologic findings in a family.&lt;/strong&gt; Hum. Path. 15: 566-574, 1984.">Ambler et al. (1984)</a>; <a href="#Ambler1984" class="mim-tip-reference" title="Ambler, M. W., Neave, C., Tutschka, B. G., Pueschel, S. M., Orson, J. M., Singer, D. B. &lt;strong&gt;X-linked recessive myotubular myopathy. I. Clinical and pathologic findings in a family.&lt;/strong&gt; Hum. Path. 15: 566-574, 1984.">Ambler et al. (1984)</a>; <a href="#Barth1975" class="mim-tip-reference" title="Barth, P. G., Van Wijngaarden, G. K., Bethlem, J. &lt;strong&gt;X-linked myotubular myopathy with fatal neonatal asphyxia.&lt;/strong&gt; Neurology 25: 531-536, 1975.">Barth et al. (1975)</a>; <a href="#Laporte1997" class="mim-tip-reference" title="Laporte, J., Kioschis, P., Hu, L.-J., Kretz, C., Carlsson, B., Poustka, A., Mandel, J. L., Dahl, N. &lt;strong&gt;Cloning and characterization of an alternatively spliced gene in proximal Xq28 deleted in two patients with intersexual genitalia and myotubular myopathy.&lt;/strong&gt; Genomics 41: 458-462, 1997.">Laporte et al. (1997)</a>; <a href="#Williams1987" class="mim-tip-reference" title="Williams, H., Sarfarazi, M., Roberts, K., Thomas, N. S. T., Cole, G., Leichti-Gallati, S., Harper, P. S. &lt;strong&gt;X-linked myotubular myopathy (XLMTM): another muscle disease gene localized to Xq28.(Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 41: A110, 1987.">Williams et al. (1987)</a>
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<a id="1" class="mim-anchor"></a>
<a id="Ambler1984" class="mim-anchor"></a>
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Ambler, M. W., Neave, C., Singer, D. B.
<strong>X-linked recessive myotubular myopathy. II. Muscle morphology and human myogenesis.</strong>
Hum. Path. 15: 1107-1120, 1984.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6542063/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6542063</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6542063" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/s0046-8177(84)80305-6" target="_blank">Full Text</a>]
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<a id="Ambler1984" class="mim-anchor"></a>
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Ambler, M. W., Neave, C., Tutschka, B. G., Pueschel, S. M., Orson, J. M., Singer, D. B.
<strong>X-linked recessive myotubular myopathy. I. Clinical and pathologic findings in a family.</strong>
Hum. Path. 15: 566-574, 1984.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6539297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6539297</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6539297" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/s0046-8177(84)80011-8" target="_blank">Full Text</a>]
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<a id="Askanas1979" class="mim-anchor"></a>
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Askanas, V., Engel, W. K., Reddy, N. B., Barth, P. G., Bethlem, J., Krauss, D. R., Hibberd, M. E., Lawrence, J. V., Carter, L. S.
<strong>X-linked recessive congenital muscle fiber hypotrophy with central nuclei: abnormalities of growth and adenylate cyclase in muscle tissue cultures.</strong>
Arch. Neurol. 36: 604-609, 1979.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/573609/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">573609</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=573609" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1001/archneur.1979.00500460038003" target="_blank">Full Text</a>]
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<a id="Barth1998" class="mim-anchor"></a>
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Barth, P. G., Dubowitz, V.
<strong>X-linked myotubular myopathy--a long-term follow-up study.</strong>
Europ. J. Paediat. Neurol. 2: 49-56, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10726846/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10726846</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10726846" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/1090-3798(98)01004-9" target="_blank">Full Text</a>]
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<a id="Barth1975" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Barth, P. G., Van Wijngaarden, G. K., Bethlem, J.
<strong>X-linked myotubular myopathy with fatal neonatal asphyxia.</strong>
Neurology 25: 531-536, 1975.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1168872/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1168872</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1168872" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1212/wnl.25.6.531" target="_blank">Full Text</a>]
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<a id="Bradley1970" class="mim-anchor"></a>
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Bradley, W. G., Price, D. L., Watanabe, C. K.
<strong>Familial centronuclear myopathy.</strong>
J. Neurol. Neurosurg. Psychiat. 33: 687-693, 1970.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5478951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5478951</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5478951" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jnnp.33.5.687" target="_blank">Full Text</a>]
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Braga, S. E., Gerber, A., Meier, C., Weiersmuller, A., Zimmermann, A., Herrmann, U., Liechti, S., Moser, H.
<strong>Severe neonatal asphyxia due to X-linked centronuclear myopathy.</strong>
Europ. J. Pediat. 150: 132-135, 1990.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2279510/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2279510</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2279510" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF02072056" target="_blank">Full Text</a>]
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<a id="Breningstall1991" class="mim-anchor"></a>
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Breningstall, G. N., Grover, W. D., Marks, H. G.
<strong>Maternal muscle biopsy in X-linked recessive centronuclear (myotubular) myopathy.</strong>
Am. J. Med. Genet. 39: 13-18, 1991.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1867257/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1867257</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1867257" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320390105" target="_blank">Full Text</a>]
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<a id="Buj-Bello1999" class="mim-anchor"></a>
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Buj-Bello, A., Biancalana, V., Moutou, C., Laporte, J., Mandel, J.-L.
<strong>Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy.</strong>
Hum. Mutat. 14: 320-325, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10502779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10502779</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10502779" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/(SICI)1098-1004(199910)14:4&lt;320::AID-HUMU7&gt;3.0.CO;2-O" target="_blank">Full Text</a>]
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<a id="Buj-Bello2002" class="mim-anchor"></a>
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Buj-Bello, A., Laugel, V., Messaddeq, N., Zahreddine, H., Laporte, J., Pellissier, J.-F., Mandel, J.-L.
<strong>The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice.</strong>
Proc. Nat. Acad. Sci. 99: 15060-15065, 2002.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12391329/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12391329</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12391329[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=12391329" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1073/pnas.212498399" target="_blank">Full Text</a>]
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<a id="Cowling2014" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Cowling, B. S., Chevremont, T., Prokic, I., Kretz, C., Ferry, A., Coirault, C., Koutsopoulos, O., Laugel, V., Romero, N. B., Laporte, J.
<strong>Reducing dynamin 2 expression rescues X-linked centronuclear myopathy.</strong>
J. Clin. Invest. 124: 1350-1363, 2014.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24569376/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24569376</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24569376[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=24569376" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1172/JCI71206" target="_blank">Full Text</a>]
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<a id="Dahl1995" class="mim-anchor"></a>
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Dahl, N., Hu, L. J., Chery, M., Fardeau, M., Gilgenkrantz, S., Nivelon-Chevallier, A., Sidaner-Noisette, I., Mugneret, F., Gouyon, J. B., Gal, A., Kioschis, P., d'Urso, M., Mandel, J.-L.
<strong>Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region.</strong>
Am. J. Hum. Genet. 56: 1108-1115, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7726166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7726166</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7726166" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<strong>X linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684).</strong>
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[<a href="https://doi.org/10.1136/jmg.31.12.922" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1990.tb03515.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/6.9.1499" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1371/journal.pgen.1000372" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archneur.1968.00470340121011" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1055/s-2008-1073015" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/01.WNL.0000160393.99621.D0" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/S0002-9297(07)64249-9" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0960-8966(99)00073-5" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1034/j.1399-0004.1999.560111.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/brain/108.4.941" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(99)70417-8" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0960-8966(94)90084-1" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320590211" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1987.tb03332.x" target="_blank">Full Text</a>]
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Laporte, J., Biancalana, V., Tanner, S. M., Kress, W., Schneider, V., Wallgren-Pettersson, C., Herger, F., Buj-Bello, A., Blondeau, F., Liechti-Gallati, S., Mandel, J.-L.
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[<a href="https://doi.org/10.1002/(SICI)1098-1004(200005)15:5&lt;393::AID-HUMU1&gt;3.0.CO;2-R" target="_blank">Full Text</a>]
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Laporte, J., Guiraud-Chaumeil, C., Vincent, M.-C., Mandel, J.-L., Tanner, S. M., Liechti-Gallati, S., Wallgren-Pettersson, C., Dahl, N., Kress, W., Bolhuis, P. A., Fardeau, M., Samson, F., Bertini, E., members of the ENMC International Consortium on Myotubular Myopathy.
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[<a href="https://doi.org/10.1093/hmg/6.9.1505" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/ng0696-175" target="_blank">Full Text</a>]
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Laporte, J., Kioschis, P., Hu, L.-J., Kretz, C., Carlsson, B., Poustka, A., Mandel, J. L., Dahl, N.
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[<a href="https://doi.org/10.1006/geno.1997.4662" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ana.1033" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.27.5.288" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1974.tb01702.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000174625.67484.4d" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1017/s0317167100043444" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1017/s0317167100030304" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/wnl.42.8.1616" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000058763.90924.fa" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archneur.1966.00470070005001" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.27.5.281" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/wnl.57.5.900" target="_blank">Full Text</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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<strong>Deletion of both MTM1 and MTMR1 genes in a boy with myotubular myopathy. (Letter)</strong>
Am. J. Med. Genet. 134A: 338-340, 2005.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15690409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15690409</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15690409" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.30574" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 12/15/2014
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Cassandra L. Kniffin - updated : 6/5/2009<br>Cassandra L. Kniffin - updated : 9/29/2006<br>Cassandra L. Kniffin - updated : 10/31/2005<br>Cassandra L. Kniffin - updated : 8/24/2005<br>Cassandra L. Kniffin - updated : 6/11/2003<br>Cassandra L. Kniffin - reorganized : 12/17/2002<br>Victor A. McKusick - updated : 2/21/2002<br>Victor A. McKusick - updated : 11/2/2001<br>Victor A. McKusick - updated : 9/19/2001<br>Victor A. McKusick - updated : 9/5/2001<br>George E. Tiller - updated : 12/14/2000<br>Victor A. McKusick - updated : 10/27/2000<br>Victor A. McKusick - updated : 5/19/2000<br>Wilson H. Y. Lo - updated : 11/17/1999<br>Victor A. McKusick - updated : 10/20/1999<br>Victor A. McKusick - updated : 9/8/1999<br>Victor A. McKusick - updated : 8/30/1999<br>Sonja A. Rasmussen - updated : 8/3/1999<br>Victor A. McKusick - updated : 4/26/1999<br>Rebekah S. Rasooly - updated : 2/19/1999<br>Victor A. McKusick - updated : 10/2/1998<br>Victor A. McKusick - updated : 2/27/1998<br>Victor A. McKusick - updated : 2/2/1998<br>Victor A. McKusick - updated : 9/22/1997<br>Victor A. McKusick - updated : 6/17/1997
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Creation Date:
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Victor A. McKusick : 6/4/1986
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carol : 04/14/2022
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carol : 03/11/2022<br>carol : 02/08/2019<br>alopez : 12/16/2014<br>mcolton : 12/15/2014<br>ckniffin : 12/15/2014<br>ckniffin : 12/22/2011<br>carol : 6/17/2011<br>carol : 4/7/2011<br>ckniffin : 2/16/2011<br>wwang : 6/23/2009<br>wwang : 6/22/2009<br>ckniffin : 6/5/2009<br>carol : 6/10/2008<br>wwang : 10/9/2006<br>ckniffin : 9/29/2006<br>wwang : 11/3/2005<br>ckniffin : 10/31/2005<br>wwang : 8/26/2005<br>ckniffin : 8/24/2005<br>carol : 6/23/2003<br>ckniffin : 6/23/2003<br>carol : 6/16/2003<br>ckniffin : 6/11/2003<br>carol : 1/23/2003<br>carol : 12/17/2002<br>carol : 12/17/2002<br>ckniffin : 12/12/2002<br>carol : 12/10/2002<br>tkritzer : 12/9/2002<br>terry : 12/4/2002<br>terry : 3/8/2002<br>cwells : 2/25/2002<br>terry : 2/21/2002<br>carol : 11/8/2001<br>mcapotos : 11/2/2001<br>alopez : 9/19/2001<br>alopez : 9/10/2001<br>alopez : 9/10/2001<br>terry : 9/5/2001<br>carol : 2/15/2001<br>cwells : 1/12/2001<br>terry : 12/14/2000<br>mcapotos : 11/7/2000<br>mcapotos : 11/1/2000<br>terry : 10/27/2000<br>mcapotos : 6/5/2000<br>mcapotos : 5/25/2000<br>terry : 5/19/2000<br>carol : 2/29/2000<br>alopez : 11/18/1999<br>carol : 11/17/1999<br>carol : 11/17/1999<br>carol : 10/20/1999<br>carol : 10/20/1999<br>carol : 10/20/1999<br>jlewis : 9/8/1999<br>terry : 8/30/1999<br>carol : 8/3/1999<br>mgross : 5/7/1999<br>mgross : 4/28/1999<br>terry : 4/26/1999<br>alopez : 2/21/1999<br>alopez : 2/19/1999<br>alopez : 2/19/1999<br>carol : 10/7/1998<br>terry : 10/2/1998<br>terry : 9/4/1998<br>alopez : 3/23/1998<br>terry : 2/27/1998<br>mark : 2/3/1998<br>terry : 2/2/1998<br>mark : 9/23/1997<br>terry : 9/22/1997<br>alopez : 6/25/1997<br>terry : 6/23/1997<br>terry : 6/17/1997<br>terry : 11/14/1996<br>terry : 11/13/1996<br>terry : 6/6/1996<br>mark : 5/31/1996<br>mark : 5/30/1996<br>terry : 5/28/1996<br>mark : 2/14/1996<br>terry : 2/9/1996<br>mark : 1/17/1996<br>terry : 1/11/1996<br>mark : 10/24/1995<br>carol : 2/17/1995<br>terry : 11/22/1994<br>mimadm : 4/14/1994<br>carol : 5/11/1993<br>supermim : 3/17/1992
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<strong>#</strong> 310400
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MYOPATHY, CENTRONUCLEAR, X-LINKED; CNMX
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<em>Alternative titles; symbols</em>
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MYOTUBULAR MYOPATHY, X-LINKED; MTMX; XLMTM<br />
MYOTUBULAR MYOPATHY 1; MTM1
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<strong>SNOMEDCT:</strong> 46804001; &nbsp;
<strong>ICD10CM:</strong> G71.220; &nbsp;
<strong>ORPHA:</strong> 596, 604680; &nbsp;
<strong>DO:</strong> 0111225; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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Xq28
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Myopathy, centronuclear, X-linked
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310400
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X-linked recessive
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3
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MTM1
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300415
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because X-linked centronuclear myopathy (CNMX), also known as X-linked myotubular myopathy-1, is caused by mutation in the myotubularin gene (MTM1; 300415) on chromosome Xq28.</p><p>For a general phenotypic description and a discussion of genetic heterogeneity of centronuclear myopathy, see CNM1 (160150).</p><p>See myotubular myopathy with abnormal genital development (300219), a possible contiguous gene syndrome.</p>
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<strong>Clinical Features</strong>
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<p>Van Wijngaarden et al. (1969) described this disorder in 5 affected males in 4 sibships connected through females who in 2 instances showed partial manifestations on muscle biopsy. The patients were born as floppy infants and had serious respiratory problems early in life; extraocular, facial, and neck muscles were always affected. Meyers et al. (1974) reported affected brothers; both were floppy infants and died at 7 and 18 months of age. The mother showed no abnormality on muscle biopsy or enzyme assay. One of the brothers was previously reported by Engel et al. (1968). </p><p>Heckmatt et al. (1985) reported in detail on 8 unrelated children. Facial diplegia and often external ophthalmoplegia were frequent. The newborn cases resemble those of congenital myotonic dystrophy; the distinction can be made by examination of their mother who in the latter situation will invariably show mild facial weakness and clinical or electrical myotonia. Polyhydramnios is a feature of both forms of congenital myopathy, i.e., myotonic dystrophy and X-linked myotubular myopathy. Keppen et al. (1987) noted that there is often a history of polyhydramnios due to decreased fetal swallowing of amniotic fluid. </p><p>Moerman et al. (1987) concluded that severe X-linked centronuclear myopathy was responsible for neonatal death from respiratory failure in a case with congenital eventration of the diaphragm which was paper thin and almost transparent. At least 1 other male in the sibship had confirmed X-linked centronuclear myopathy leading to neonatal death. A second patient who died neonatally with congenital eventration of the diaphragm was found by Moerman et al. (1987) to have congenital myotonic dystrophy. In studies through 5 generations of a family, Oldfors et al. (1989) described 8 affected individuals in 4 generations connected through carrier females. Death in the first days of life from asphyxia was common, as was polyhydramnios. </p><p>Joseph et al. (1995) reported 10 additional cases distributed in 6 unrelated families. They noted birth length greater than the 90th percentile and large head circumference with or without hydrocephalus in 70% of cases, narrow, elongated face in 80%, and slender, long digits in 60%. There was concordance in the occurrence and severity of hydrocephalus in most sib pairs. The above features in a 'floppy' male infant served as clues for early clinical diagnosis which could then be confirmed by muscle biopsy. Development of polyhydramnios was observed in the third trimester of an at-risk dizygotic twin gestation monitored by serosonography, with confirmation of the diagnosis of myotubular myopathy at birth. </p><p>Herman et al. (1999) presented a clinical review of patients with MTM1, using data obtained through medical record review and family interview on 55 male subjects from 49 independent North American families for which a mutation was identified in the MTM1 gene by direct genomic sequencing. Seventy-four percent (26 of 35) over the age of 1 year were living, and 80% remained completely or partially ventilator-dependent. Cognitive development was normal, in the absence of significant hypoxia, and the muscle disorder appeared nonprogressive. Medical complications observed in some long-term survivors included pyloric stenosis, spherocytosis, gallstones, kidney stones or nephrocalcinosis, a vitamin K-responsive bleeding diathesis, and rapid linear growth with advanced bone age. Six patients had biochemical evidence of liver dysfunction, and 2 died after significant liver hemorrhage. The authors suggested that the prognosis for MTM1 may not be as poor as previously reported. They also noted that patients should be carefully monitored for potentially life-threatening medical complications in other (nonmuscle) organ systems. </p><p><strong><em>Pathologic Findings</em></strong></p><p>
Askanas et al. (1979) found that muscle cells established from biopsy specimens in 2 patients MTM1 showed an unusual ability to proliferate through numerous passages. Ultrastructurally, the cultured muscle fibers appeared immature even after several weeks. The nuclei were large, the number of ribosomes greatly increased, the myofibrils remained unstriated, and glycogen was accumulated in large lakes. The level of adenylate cyclase in membranes was reduced. </p><p>Sarnat et al. (1981) reported the case of an affected infant. At 5 days of age, a muscle biopsy revealed that more than 90% of muscle fibers fulfilled histologic, histochemical, and electron microscopic criteria of fetal myotubules (8 to 15 weeks of gestation). The infant died unexpectedly at 9 months of age of a seemingly unrelated cause, spontaneous rupture of a multifocal cavernous hemangioma of the liver. Postmortem examination revealed that progressive maturation of the fetal muscle had not occurred postnatally, and this maturational arrest was generalized to all striated muscles. </p><p><strong><em>Obligate Female Carriers</em></strong></p><p>
Heckmatt et al. (1985) reported mild facial weakness and, on muscle biopsy, increased variability in fiber size in an obligate carrier of the X-linked type. Keppen et al. (1987) found a normal muscle biopsy in a woman who had 2 affected sons by different fathers, indicating that a normal muscle biopsy in the mother cannot exclude X-linked inheritance. Clinical examination of 2 obligatory carriers by Oldfors et al. (1989) showed no muscle weakness, but muscle biopsy showed pathologic changes including greatly increased variability of fiber size and many fibers with central nuclei. </p><p>In agreement with recessive inheritance of X-linked myotubular myopathy, heterozygous carriers of MTM1 gene mutations are usually asymptomatic, although mild facial weakness has been reported (Heckmatt et al., 1985; Wallgren-Pettersson et al., 1995). Tanner et al. (1999) reported a 39-year-old Yemenite woman, who was the offspring of first-cousin parents, with a histologic and clinical phenotype consistent with X-linked myotubular myopathy. Gait difficulty was first noted at the age of 5 years. She showed weakness first in the lower and then in the upper extremities and underwent corrective surgery for deformity of the ankles. The patient had a normal intellectual capacity and was still ambulant. She had an elongated face with prognathism. Her speech was dysarthric with a nasal quality. She had marked kyphoscoliosis and bilateral pes equinovarus. There was moderate weakness of her facial muscles and neck flexors and winging of the right scapula. The proximal upper limb muscles and the distal hand muscles were weak and wasted, whereas the forearm muscles showed almost normal strength. In the lower leg, the pattern of weakness was similar with severe pelvic girdle and distal weakness. One of the patient's sisters gave birth to at least 2 boys with established histopathologic features of X-linked myotubular myopathy. The proband was shown to be a carrier of the most common MTM1 gene mutation (300415.0006), which is associated with a severe phenotype in males. The patient was found to have an extremely skewed X-inactivation pattern, thus explaining her abnormal phenotype. The mother, on the other hand, was a nonmanifesting carrier but likewise had an extremely skewed X-inactivation pattern in the opposite direction. The findings indicated a possible inheritance of skewed X inactivation. Linkage analysis excluded involvement of the XIST locus (314670) at Xq13. </p><p>Sutton et al. (2001) described a female heterozygous for an R224X mutation of the MTM1 gene (310400.0008) with limb-girdle and facial weakness typical of the cases reported by Tanner et al. (1999) and Hammans et al. (2000). However, in their patient, Sutton et al. (2001) found no skewed X-chromosome inactivation in either lymphocyte or muscle DNA. </p><p>Schara et al. (2003) reported a female with prenatal/neonatal onset of clinical symptoms due to myotubular myopathy, who had a heterozygous mutation in the MTM1 gene (300415.0009). During pregnancy, fetal movements were reduced. After birth, she showed severe hypotonia, dyspnea, a weak cry, absent tendon reflexes, a high-arched palate, and a right-sided ptosis. She later had limb-girdle and facial muscle weakness and a waddling gait. Skeletal muscle biopsy showed a wide variation of fiber size and numerous internal nuclei. Schara et al. (2003) noted the more severe clinical course in this female compared to other reported affected females and emphasized the prenatal onset of symptoms. </p><p>Grogan et al. (2005) reported 3 sisters with myotubular myopathy confirmed by genetic analysis of the MTM1 gene. All reported unilateral weakness and atrophy of the upper limb since childhood, and the 2 older sisters had onset of gradually progressive generalized weakness in their thirties. X-rays of the hand in 1 patient showed skeletal asymmetry. Two of the sisters had an elevated hemidiaphragm on the ipsilateral side to their upper limb involvement. Five additional asymptomatic female family members carried the same mutation and showed skewed X-inactivation favoring the paternal X chromosome. A fourth unrelated woman with an MTM1 mutation had left facial and left upper and lower limb weakness and atrophy since age 6 years. She developed progressive generalized weakness at age 40 years; x-ray showed elevated left hemidiaphragm. X-inactivation was markedly skewed. </p>
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<strong>Diagnosis</strong>
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<p>Braga et al. (1990) reported 7 cases from 3 families, calling attention to the prenatal onset and rapid progression of the disorder. They concluded that needle biopsy of muscle, showing an increased number of centrally located nuclei with perinuclear halos, is a 'powerful tool for early diagnosis.' </p><p>Sarnat (1990) found by immunohistochemical studies persistence of desmin and vimentin in 2 female carriers of the X-linked form, which they thought might be useful in carrier detection. In 3 mothers of boys with X-linked centronuclear myopathy, one of them an obligate carrier, Breningstall et al. (1991) found abnormalities of nonspecific character on muscle biopsy. They reviewed other experience with muscle biopsy in possible carriers and concluded that a more specific tissue marker is required before muscle biopsy can facilitate carrier identification. </p><p>Laporte et al. (2001) found that 87% (21/24) of patients with known MTM1 mutations showed reduced myotubularin levels in a variety of cell lines, as detected by immunoprecipitation followed by Western blot analysis. Four patients were diagnosed by immunoprecipitation before mutations in the MTM1 gene were identified. The authors suggested that this would be a rapid and helpful method for initial diagnosis of XLMTM. </p><p><strong><em>Differential Diagnosis</em></strong></p><p>
Heckmatt et al. (1985) reported in detail on 8 unrelated children. They pointed out that the severity, mode of presentation and pedigree pattern permit definition of 3 types: a severe neonatal X-linked recessive type, a less severe infantile or juvenile autosomal recessive type (255200), and a yet milder autosomal dominant type (160150). </p><p>Wallgren-Pettersson et al. (1995) reviewed data relevant to the differential diagnosis of the X-linked, autosomal dominant, and autosomal recessive forms of myotubular myopathy. Whereas the X-linked recessive form is well documented, information is scantier on the autosomal dominant and autosomal recessive forms. No clear consensus exists regarding the use of the alternative names myotubular or central nuclear myopathy. Quantitative clinical differences existed between the 3 types, in regard to age at onset, severity of the disease, and prognosis, and also regarding some of the clinical characteristics. The autosomal dominant form had a later onset and milder course than the X-linked form, and the autosomal recessive form was intermediate in both respects. Wallgren-Pettersson et al. (1995) noted that determining the mode of inheritance and prognosis in individual families, especially those with a single male patient, poses a problem. </p>
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<strong>Inheritance</strong>
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<p>The families reported by Van Wijngaarden et al. (1969), Bradley et al. (1970), Meyers et al. (1974), Heckmatt et al. (1985), Keppen et al. (1987), Moerman et al. (1987), Oldfors et al. (1989), and Joseph et al. (1995) supported X-linked recessive inheritance. </p><p>Torres et al. (1985) reported the cases of 2 brothers with severe neonatal centronuclear myopathy and their mother who had evidence of a skeletal muscle, peripheral nerve, and brain-stem disorder. They suggested that all 3 had the same disorder inherited as an autosomal dominant with variable expressivity. The 2 brothers died at 4 days and 5 years of age. The authors noted that neonatal death or death in infancy occurs with the X-linked recessive form but has not been reported with the autosomal dominant form. McKusick (1985) thought it likely that this family was an instance of the X-linked recessive form with manifestations in a heterozygous female. </p><p>Germline mosaicism in the mother of boys with MTM1 was observed by Tanner et al. (1998), Vincent et al. (1998), and Hane et al. (1999). Hane et al. (1999) found that these 3 cases of germline mosaicism represented 23% of a total of 13 new mutations. They cited reports that germline mosaicism had been observed in 14% of new mutations in Duchenne muscular dystrophy (see 310200), 10% of new mutations in retinoblastoma (180200), and 19% of new mutations in facioscapulohumeral muscular dystrophy (see 158900). </p>
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<strong>Pathogenesis</strong>
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<p>In normal muscle, mature myofibers have peripherally placed nuclei, whereas only immature myotubes have nuclei centrally placed. Spiro et al. (1966) had suggested that the pathogenesis of this disorder is a failure of maturation. Additional evidence to support this hypothesis comes from demonstration of persistence of vimentin (193060) in centronuclear myopathy fibers (Sarnat et al., 1981), persistence of prenatal myosin heavy chains (Sawchak et al., 1991), and persistence of the N-CAM cell adhesion molecule (116930; Fidzianska et al., 1994). Sarnat (1990) and Sarnat (1992) demonstrated that both vimentin and desmin (125660) persist in the X-linked form; as a rule, this does not occur in the autosomal dominant form of the disorder. </p><p>Torres et al. (1985) reviewed evidence that the central and peripheral nervous systems are involved in this disorder. </p><p>Using cDNA microarray analysis, Noguchi et al. (2005) found that skeletal muscle from patients with genetically confirmed MTM1 had upregulation of transcripts for cytoskeletal and extracellular matrix proteins and downregulation of genes involved in energy metabolism, especially those involved in the glycolytic pathway. The authors suggested that increased remodeling of cytoskeletal and extracellular architecture within muscle fibers contributes to fiber atrophy and intracellular organelle disorganization seen in muscle biopsies from affected patients. </p>
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<strong>Mapping</strong>
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<span class="mim-text-font">
<p>Williams et al. (1985) described preliminary family studies with DNA polymorphisms suggesting that the gene for myotubular myopathy is on Xp. From studies using DNA markers in 1 Welsh family and 1 Swiss family, however, the same group (Thomas et al. (1987, 1990)) found no recombination with 4 markers for Xq28, including those for colorblindness and factor VIII (300841). The maximum lod score was 3.74 at theta = 0.00 for one of the markers, and if the information from the other markers was included as a multipoint linkage analysis, the lod score became impressively high. Darnfors et al. (1989, 1990) added data bringing the combined maximum lod score to 5.12 at theta = 0.0. Starr et al. (1990) also found linkage to markers in band Xq28; no recombinants were found. Both Starr et al. (1990) and Thomas et al. (1990) quoted a personal communication from J. L. Mandel indicating the possibility of a second form of X-linked centronuclear myopathy determined by a gene at a site other than Xq26-qter. Liechti-Gallati et al. (1991) likewise mapped this disorder to Xq28 through linkage analysis of 8 families. They placed the gene close to F8C. Lehesjoki et al. (1990) found 1 recombinant, indicating that MTM1 is proximal to F8C. </p><p>Janssen et al. (1994) found a maximum 2-point lod score of 4.00 at theta = 0.0 for the marker DXS466. Three recombinations were found with other markers in this region, placing the XLMTM gene in the 8-Mb (11 cM) region between DXS297 and DXS134. Dahl et al. (1994) reported 2 new families with MTM1 that showed recombination with either DXS304 or DXS52. These families and a third, previously described recombinant family were analyzed with 2 highly polymorphic markers in the interval between the above 2 markers. No recombination with MTM1 and the VNTR DXS455 or the microsatellite DXS1684 was found. Together with the mapping of an interstitial X-chromosome deletion in a female patient with moderate signs of myotubular myopathy, these data allowed Dahl et al. (1994) to order the loci as a step toward positional cloning of the gene. </p><p>Dahl et al. (1995) provided further information concerning the patient with the interstitial deletion in Xq27-q28. Analysis of inactive X-specific methylation at the androgen receptor gene showed that the deleted X chromosome was active in approximately 80% of leukocytes. Unbalanced inactivation may account for the moderate MTM1 phenotype and the mental retardation that later developed in the patient. Comparison of this deletion with that carried by a male patient with a severe Hunter syndrome (309900) phenotype but no myotubular myopathy, in combination with linkage data on recombinant MTM1 families, led to a positional refinement of the MTM1 locus to a 600-kb region between DXS304 and DXS497. </p><p>Samson et al. (1995) reported a family with a single case of myotubular myopathy in which linkage analysis, combined with examination of muscle biopsies in females for a determination of carrier status, led them to 'strongly suggest genetic heterogeneity' of this X-linked disorder. Guiraud-Chaumeil et al. (1997) reanalyzed this family with markers closest to the MTM1 gene on Xq28 and used SSCP analysis on characterized exons to search for mutations in the proband. They identified a missense mutation in the proband (300415.0002) that was not present in his mother or in 3 other females who had been thought to be carriers on the basis of detection of some small fibers with centrally located nuclei in their muscle biopsies. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In a male with X-linked myotubular myopathy, Laporte et al. (1996) identified a missense mutation in the MTM1 gene (300415.0001). This was 1 of 4 missense mutations that, together with 3 frameshift mutations, were found in 7 of 60 MTM1 patients studied. Other mutations in the MTM1 were identified in X-linked MTM patients by de Gouyon et al. (1997), Laporte et al., 1997, Tanner et al. (1998), Buj-Bello et al. (1999), and Laporte et al. (2000). </p><p>Laporte et al. (2000) stated that 133 different mutations in the MTM1 gene had been identified as the cause of X-linked myotubular myopathy. They found that most truncating mutations caused a severe and early lethal phenotype, and that some missense mutations were associated with milder forms and prolonged survival, up to 54 years in the first reported family (Van Wijngaarden et al., 1969; Barth and Dubowitz, 1998). </p><p>Zanoteli et al. (2005) reported a male infant with a severe form of X-linked myotubular myopathy and a large deletion of the MTM1 gene encompassing exons 4-15. The patient also had deletion of the telomeric MTMR1 gene (300171). Although the authors considered the contiguous gene syndrome associated with abnormal genital development (300219), the patient only had cryptorchidism as an anomaly and showed expression of the F18 gene (MAMLD1; 300120), which is believed to be deleted in that disorder. Zanoteli et al. (2005) concluded that the severe phenotype in this child was due to the large deletion of the MTM1 gene and that the MTMR1 gene is not involved in early sexual development. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Animal Model</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>X-linked myotubular myopathy was proposed to result from an arrest in myogenesis, as the skeletal muscle from patients contains hypotrophic fibers with centrally located nuclei that resembled fetal myotubes (Spiro et al., 1966; Van Wijngaarden et al., 1969). To understand the pathophysiologic mechanism of XLMTM, Buj-Bello et al. (2002) generated mice lacking myotubularin by homologous recombination. These mice were viable, but their life span was severely reduced. They developed a generalized and progressive myopathy starting at approximately 4 weeks of age, with amyotrophy and accumulation of central nuclei in skeletal muscle fibers leading to death at 6 to 14 weeks of age. Buj-Bello et al. (2002) showed that muscle differentiation in knockout mice occurred normally, contrary to expectations. They provided evidence that fibers with centralized myonuclei originate mainly from a structural maintenance defect affecting myotubularin-deficient muscle rather than a regenerative process. In addition, they demonstrated through a conditional gene-targeting approach that skeletal muscle is the primary target of murine XLMTM pathology. </p><p>Dowling et al. (2009) observed that zebrafish with reduced levels of myotubularin had significantly impaired motor function and obvious histopathologic muscle changes, including abnormally shaped and positioned nuclei and myofiber hypotrophy, as observed in the human disease. Loss of myotubularin caused increased phosphatidylinositol 3-phosphate (PI3P) levels in muscle in vivo. Morpholino knockdown of Mtm1 in zebrafish muscle resulted in abnormalities in the T-tubule and sarcoplasmic reticulum network, similar to T-tubule disorganization observed in skeletal muscle biopsies from patients with myotubular myopathy. Expression of the homologous myotubularin-related proteins Mtmr1 (300171) and Mtmr2 (603557) could functionally compensate for the loss of myotubularin in zebrafish. Dowling et al. (2009) suggested that XLMTM may be linked mechanistically by tubuloreticular abnormalities and defective excitation-contraction coupling to myopathies caused by mutations in the RYR1 gene (180901). </p><p>Cowling et al. (2014) found a 1.5-fold increase in DNM2 (602378) expression in muscle biopsies isolated from human patients with CNMX and in heterozygous Mtm1 -/y mice compared to controls. Crossing Mtm1 -/y with Dnm2 +/- mice resulted in increased survival and greatly improved muscle strength, suggesting that reduced expression of the Dnm2 gene can rescue the early lethality observed in Mtm1 -/y mice. Skeletal muscle from the double-mutant mice showed decreased or even rescued atrophy compared to Mtm1 -/y mice, and histologic abnormalities such as fiber atrophy and nuclei mispositioning were absent or reduced in the double-mutant mice. Ultrastructural analysis showed improvement of sarcomere organization and triad structures. In addition, muscle-specific reduction of Dnm2, particularly in the diaphragm, was sufficient to rescue the lethal phenotype even after birth and the onset of symptoms. The findings indicated that MTM1 and DNM2 regulate muscle organization and force through a common pathway, and suggested that MTM1 may act as a negative regulator of DNM2. Cowling et al. (2014) concluded that reduction of DNM2 protein levels may provide a therapeutic approach for patients with CNMX. </p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>See Also:</strong>
</span>
</h4>
<span class="mim-text-font">
Ambler et al. (1984); Ambler et al. (1984); Barth et al. (1975);
Laporte et al. (1997); Williams et al. (1987)
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
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[Full Text: https://doi.org/10.1016/0960-8966(94)90084-1]
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<p class="mim-text-font">
Laporte, J., Biancalana, V., Tanner, S. M., Kress, W., Schneider, V., Wallgren-Pettersson, C., Herger, F., Buj-Bello, A., Blondeau, F., Liechti-Gallati, S., Mandel, J.-L.
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</p>
</li>
<li>
<p class="mim-text-font">
Laporte, J., Guiraud-Chaumeil, C., Vincent, M.-C., Mandel, J.-L., Tanner, S. M., Liechti-Gallati, S., Wallgren-Pettersson, C., Dahl, N., Kress, W., Bolhuis, P. A., Fardeau, M., Samson, F., Bertini, E., members of the ENMC International Consortium on Myotubular Myopathy.
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[PubMed: 9305655]
[Full Text: https://doi.org/10.1093/hmg/6.9.1505]
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<li>
<p class="mim-text-font">
Laporte, J., Hu, L. J., Kretz, C., Mandel, J.-L., Kioschis, P., Coy, J. F., Klauck, S. M., Poustka, A., Dahl, N.
<strong>A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast.</strong>
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<li>
<p class="mim-text-font">
Laporte, J., Kioschis, P., Hu, L.-J., Kretz, C., Carlsson, B., Poustka, A., Mandel, J. L., Dahl, N.
<strong>Cloning and characterization of an alternatively spliced gene in proximal Xq28 deleted in two patients with intersexual genitalia and myotubular myopathy.</strong>
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[PubMed: 9169146]
[Full Text: https://doi.org/10.1006/geno.1997.4662]
</p>
</li>
<li>
<p class="mim-text-font">
Laporte, J., Kress, W., Mandel, J.-L.
<strong>Diagnosis of X-linked myotubular myopathy by detection of myotubularin.</strong>
Ann. Neurol. 50: 42-46, 2001.
[PubMed: 11456308]
[Full Text: https://doi.org/10.1002/ana.1033]
</p>
</li>
<li>
<p class="mim-text-font">
Lehesjoki, A.-E., Sankila, E.-M., Miao, J., Somer, M., Salonen, R., Rapola, J., de la Chapelle, A.
<strong>X linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28.</strong>
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[PubMed: 1972196]
[Full Text: https://doi.org/10.1136/jmg.27.5.288]
</p>
</li>
<li>
<p class="mim-text-font">
Liechti-Gallati, S., Muller, B., Grimm, T., Kress, W., Muller, C., Boltshauser, E., Moser, H., Braga, S.
<strong>X-linked centronuclear myopathy: mapping the gene to Xq28.</strong>
Neuromusc. Disord. 1: 239-245, 1991.
[PubMed: 1822801]
[Full Text: https://doi.org/10.1016/0960-8966(91)90096-b]
</p>
</li>
<li>
<p class="mim-text-font">
McKusick, V. A.
<strong>Personal Communication.</strong>
Baltimore, Md. 1985.
</p>
</li>
<li>
<p class="mim-text-font">
Meyers, K. R., Golomb, H. M., Hansen, J. L., McKusick, V. A.
<strong>Familial neuromuscular disease with &#x27;myotubes.&#x27;.</strong>
Clin. Genet. 5: 327-337, 1974.
[PubMed: 4136736]
[Full Text: https://doi.org/10.1111/j.1399-0004.1974.tb01702.x]
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<p class="mim-text-font">
Moerman, P., Fryns, J.-P., Devlieger, H., Van Assche, A., Lauweryns, J.
<strong>Congenital eventration of the diaphragm: an unusual cause of intractable neonatal respiratory distress with variable etiology.</strong>
Am. J. Med. Genet. 27: 213-218, 1987.
[PubMed: 3605197]
[Full Text: https://doi.org/10.1002/ajmg.1320270124]
</p>
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Samson, F., Mesnard, L., Heimburger, M., Hanauer, A., Chevallay, M., Mercadier, J. J., Pelissier, J. F., Feingold, N., Junien, C., Mandel, J.-L., Fardeau, M.
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Sarnat, H. B.
<strong>Myotubular myopathy: arrest of morphogenesis of myofibres associated with persistence of fetal vimentin and desmin: four cases compared with fetal and neonatal muscle.</strong>
Can. J. Neurol. Sci. 17: 109-123, 1990.
[PubMed: 2357647]
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Sarnat, H. B.
<strong>Vimentin and desmin in maturing skeletal muscle and developmental myopathies.</strong>
Neurology 42: 1616-1624, 1992.
[PubMed: 1641160]
[Full Text: https://doi.org/10.1212/wnl.42.8.1616]
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Sawchak, J. A., Sher, J. H., Norman, M. G., Kula, R. W., Shafiq, S. A.
<strong>Centronuclear myopathy heterogeneity: distinction of clinical types by myosin isoform patterns.</strong>
Neurology 41: 135-140, 1991.
[PubMed: 1824643]
[Full Text: https://doi.org/10.1212/wnl.41.1.135]
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Schara, U., Kress, W., Tucke, J., Mortier, W.
<strong>X-linked myotubular myopathy in a female infant caused by a new MTM1 gene mutation.</strong>
Neurology 60: 1363-1365, 2003.
[PubMed: 12707446]
[Full Text: https://doi.org/10.1212/01.wnl.0000058763.90924.fa]
</p>
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Spiro, A. J., Shy, G. M., Gonatas, N. K.
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Arch. Neurol. 14: 1-14, 1966.
[PubMed: 4954227]
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</p>
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<li>
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Starr, J., Lamont, M., Iselius, L., Harvey, J., Heckmatt, J.
<strong>A linkage study of a large pedigree with X linked centronuclear myopathy.</strong>
J. Med. Genet. 27: 281-283, 1990.
[PubMed: 2352255]
[Full Text: https://doi.org/10.1136/jmg.27.5.281]
</p>
</li>
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Sutton, I. J., Winer, J. B., Norman, A. N., Liechti-Gallati, S., MacDonald, F.
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[PubMed: 11552027]
[Full Text: https://doi.org/10.1212/wnl.57.5.900]
</p>
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Tanner, S. M., Laporte, J., Guiraud-Chaumeil, C., Liechti-Gallati, S.
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[PubMed: 9450905]
[Full Text: https://doi.org/10.1002/(SICI)1098-1004(1998)11:1&lt;62::AID-HUMU10&gt;3.0.CO;2-X]
</p>
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<li>
<p class="mim-text-font">
Tanner, S. M., Orstavik, K. H., Kristiansen, M., Lev, D., Lerman-Sagie, T., Sadeh, M., Liechti-Gallati, S.
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Thomas, N. S. T., Sarfarazi, M., Roberts, K., Williams, H., Cole, G., Liechti-Gallati, S., Harper, P. S.
<strong>X-linked myotubular myopathy (MTM1): evidence for linkage to Xq28 DNA markers.(Abstract)</strong>
Cytogenet. Cell Genet. 46: 704, 1987.
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Thomas, N. S. T., Williams, H., Cole, G., Roberts, K., Clarke, A., Liechti-Gallati, S., Braga, S., Gerber, A., Meier, C., Moser, H., Harper, P. S.
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Arch. Neurol. 42: 1011-1014, 1985.
[PubMed: 2994607]
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</p>
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Zanoteli, E., Oliveira, A. S. B., Gabbai, A. A., Laporte, J., Kretz, C., Mandel, J.-L., Buj-Bello, A., Rocha, J. C. C., Perez, A. B. A.
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Cassandra L. Kniffin - updated : 12/15/2014<br>Cassandra L. Kniffin - updated : 6/5/2009<br>Cassandra L. Kniffin - updated : 9/29/2006<br>Cassandra L. Kniffin - updated : 10/31/2005<br>Cassandra L. Kniffin - updated : 8/24/2005<br>Cassandra L. Kniffin - updated : 6/11/2003<br>Cassandra L. Kniffin - reorganized : 12/17/2002<br>Victor A. McKusick - updated : 2/21/2002<br>Victor A. McKusick - updated : 11/2/2001<br>Victor A. McKusick - updated : 9/19/2001<br>Victor A. McKusick - updated : 9/5/2001<br>George E. Tiller - updated : 12/14/2000<br>Victor A. McKusick - updated : 10/27/2000<br>Victor A. McKusick - updated : 5/19/2000<br>Wilson H. Y. Lo - updated : 11/17/1999<br>Victor A. McKusick - updated : 10/20/1999<br>Victor A. McKusick - updated : 9/8/1999<br>Victor A. McKusick - updated : 8/30/1999<br>Sonja A. Rasmussen - updated : 8/3/1999<br>Victor A. McKusick - updated : 4/26/1999<br>Rebekah S. Rasooly - updated : 2/19/1999<br>Victor A. McKusick - updated : 10/2/1998<br>Victor A. McKusick - updated : 2/27/1998<br>Victor A. McKusick - updated : 2/2/1998<br>Victor A. McKusick - updated : 9/22/1997<br>Victor A. McKusick - updated : 6/17/1997
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Victor A. McKusick : 6/4/1986
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