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Entry
- #613205 - MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED
- OMIM
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<span class="h4">#613205</span>
<br />
<strong>Table of Contents</strong>
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<a href="/clinicalSynopsis/613205"><strong>Clinical Synopsis</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED" 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>
<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=17166&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div 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> 771272007<br />
<strong>ORPHA:</strong> 157973<br />
<strong>DO:</strong> 0110640<br />
">ICD+</a>
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<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
613205
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<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED
</span>
</h3>
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<br />
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<a id="alternativeTitles" class="mim-anchor"></a>
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<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
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<h4>
<span class="mim-font">
MDCL
</span>
</h4>
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<br />
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<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
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</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1240?start=-3&limit=10&highlight=1240">
1q22
</a>
</span>
</td>
<td>
<span class="mim-font">
Muscular dystrophy, congenital
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613205"> 613205 </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">
LMNA
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/150330"> 150330 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
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<a href="/clinicalSynopsis/613205" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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PheneGene Graphics <span class="caret"></span>
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<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/613205" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/613205" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GROWTH </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Other </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Failure to thrive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/432788009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">432788009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/54840006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">54840006</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015544&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015544</a>, <a href="https://bioportal.bioontology.org/search?q=C2315100&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2315100</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</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> 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 /> -
Floppy neck <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 /> -
Loss of head control <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3552712&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3552712</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> CARDIOVASCULAR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Heart </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Conduction abnormalities (less common) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/36358004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">36358004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0232219&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0232219</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> RESPIRATORY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Respiratory insufficiency due to muscle weakness <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806467&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806467</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002747" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002747</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002747" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002747</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/409622000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">409622000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/409623005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">409623005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/J96.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">J96.9</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> 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> Spine </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Rigid spine <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1858025&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858025</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003306" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003306</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003306" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003306</a>]</span><br /> -
Stiff spine <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2751837&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2751837</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Limbs </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Elbow laxity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2177688&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2177688</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">
- Talipes foot deformities <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3552713&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3552713</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001883" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001883</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001883" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001883</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">
- Muscle weakness, severe, proximal and distal <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3554758&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3554758</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26544005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26544005</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001324" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001324</a>]</span><br /> -
Generalized amyotrophy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1389113&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1389113</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003700" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003700</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003700" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003700</a>]</span><br /> -
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 /> -
Axial weakness <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3552707&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3552707</a>]</span><br /> -
Head drop due to neck muscle weakness <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3552708&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3552708</a>]</span><br /> -
Dystrophic features and atrophic fibers seen on muscle biopsy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3552709&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3552709</a>]</span><br /> -
Variability in fiber size <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3552710&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3552710</a>]</span><br />
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- Delayed motor development <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854301&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854301</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001270</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001270</a>]</span><br />
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<strong> PRENATAL MANIFESTATIONS </strong>
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- 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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<strong> LABORATORY ABNORMALITIES </strong>
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- Increased serum creatine kinase <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241005&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241005</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003236" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003236</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003236" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003236</a>]</span><br />
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<strong> MISCELLANEOUS </strong>
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- Prenatal onset or onset in infancy<br /> -
Variable severity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861403&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861403</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span><br /> -
Progressive disorder <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864985&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864985</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003676" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003676</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003676" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003676</a>]</span><br /> -
Patients who acquire ability to walk may lose it<br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutation in the lamin A/C gene (LMNA, <a href="/entry/150330#0047">150330.0047</a>)<br />
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<p>A number sign (#) is used with this entry because this form of congenital muscular dystrophy (MDC) is caused by heterozygous mutation in the gene encoding lamin A/C (LMNA; <a href="/entry/150330">150330</a>) on chromosome 1q22.</p><p>See also Emery-Dreifuss muscular dystrophy-2 (EDMD2; <a href="/entry/181350">181350</a>), an allelic disorder with overlapping features.</p>
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<strong>Clinical Features</strong>
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<p><a href="#3" class="mim-tip-reference" title="Mercuri, E., Poppe, M., Quinlivan, R., Messina, S., Kinali, M., Demay, L., Bourke, J., Richard, P., Sewry, C., Pike, M., Bonne, G., Muntoni, F., Bushby, K. &lt;strong&gt;Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C Gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant.&lt;/strong&gt; Arch. Neurol. 61: 690-694, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15148145/&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;15148145&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archneur.61.5.690&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="15148145">Mercuri et al. (2004)</a> reported a patient with LMNA-related congenital muscular dystrophy. The infant lost the ability to roll over at age 5 months, and later showed difficulties in lifting her arms and head. Other features included feeding difficulties, requiring a nasogastric tube, marked axial and limb weakness, talipes foot deformities, and increased serum creatine kinase. She also had a narrow chest and a predominantly diaphragmatic pattern of breathing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15148145" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="D&#x27;Amico, A., Haliloglu, G., Richard, P., Talim, B., Maugenre, S., Ferreiro, A., Guicheney, P., Menditto, I., Benedetti, S., Bertini, E., Bonne, G., Topaloglu, H. &lt;strong&gt;Two patients with &#x27;dropped head syndrome&#x27; due to mutations in LMNA or SEPN1 genes.&lt;/strong&gt; Neuromusc. Disord. 15: 521-524, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15961312/&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;15961312&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.nmd.2005.03.006&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="15961312">D'Amico et al. (2005)</a> reported an 18-month-old boy with so-called 'dropped head syndrome,' characterized by prominent neck extension weakness. His primary motor milestones were within the normal range, but he had difficulty holding up his head and problems walking at age 12 months. Neurological examination at 15 months confirmed significant neck extensor weakness with mild axial and limb girdle weakness. However, the boy could walk alone, walk up stairs, and rise from a chair, and there was no significant decrease in distal muscle strength. Cardiac examination was normal. Genetic analysis identified a de novo heterozygous 3-bp deletion in the LMNA gene (<a href="/entry/150330#0050">150330.0050</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15961312" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Quijano-Roy, S., Mbieleu, B., Bonnemann, C. G., Jeannet, P.-Y., Colomer, J., Clarke, N. F., Cuisset, J.-M., Roper, H., De Meirleir, L., D&#x27;Amico, A., Yaou, R. B., Nascimento, A., and 12 others. &lt;strong&gt;De novo LMNA mutations cause a new form of congenital muscular dystrophy.&lt;/strong&gt; Ann. Neurol. 64: 177-186, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18551513/&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;18551513&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ana.21417&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="18551513">Quijano-Roy et al. (2008)</a> described a form of congenital muscular dystrophy with onset in the first year of life in 15 unrelated children. Three patients had severe early-onset disease, with decreased fetal movements in utero, no motor development, severe hypotonia, diffuse limb and axial muscle weakness and atrophy, and talipes foot deformities. There were contractures in the distal limb joints, stiff and hyperextensible spine, and neck weakness. All 3 infants required mechanical ventilation at some point, and 2 of the patients had evidence of cardiac arrhythmia. The remaining 12 children initially acquired head and trunk control and independent ambulation, but most lost head control due to neck extensor weakness, a phenotype consistent with 'dropped head syndrome.' Despite variable severity, there was a consistent clinical pattern overall among the 15 patients. They typically presented with selective axial weakness and wasting of the cervicoaxial muscles. Limb involvement was predominantly proximal in upper extremities and distal in lower extremities. Talipes feet and a rigid spine with thoracic lordosis developed early. Proximal contractures appeared later, most often in lower limbs, sparing the elbows. Ten children required ventilatory support. Cardiac arrhythmias were observed in 4 of the oldest patients, but were symptomatic only in 1. Creatine kinase levels were mild to moderately increased. Muscle biopsies showed dystrophic changes in 9 children and nonspecific myopathic changes in the remaining. <a href="#4" class="mim-tip-reference" title="Quijano-Roy, S., Mbieleu, B., Bonnemann, C. G., Jeannet, P.-Y., Colomer, J., Clarke, N. F., Cuisset, J.-M., Roper, H., De Meirleir, L., D&#x27;Amico, A., Yaou, R. B., Nascimento, A., and 12 others. &lt;strong&gt;De novo LMNA mutations cause a new form of congenital muscular dystrophy.&lt;/strong&gt; Ann. Neurol. 64: 177-186, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18551513/&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;18551513&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ana.21417&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="18551513">Quijano-Roy et al. (2008)</a> concluded that the LMNA mutations identified appeared to correlate with a relatively severe phenotype, broadening the spectrum of laminopathies. The authors suggested that this group of patients may define a new disease entity, which they designated LMNA-related congenital muscular dystrophy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18551513" 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>Early-Onset Myopathy with Progeroid Features</em></strong></p><p>
<a href="#2" class="mim-tip-reference" title="Kirschner, J., Brune, T., Wehnert, M., Denecke, J., Wasner, C., Feuer, A., Marquardt, T., Ketelsen, U.-P., Wieacker, P., Bonnemann, C. G., Korinthenberg, R. &lt;strong&gt;p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria.&lt;/strong&gt; Ann. Neurol. 57: 148-151, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15622532/&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;15622532&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ana.20359&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="15622532">Kirschner et al. (2005)</a> described a young girl with a phenotype combining early-onset myopathy with progeroid features who was found to have a de novo heterozygous mutation in the LMNA gene (S143F; <a href="/entry/150330#0034">150330.0034</a>). The child presented during the first year of life with myopathy with marked axial weakness; progeroid features, including growth failure, sclerodermatous skin changes, and osteolytic lesions, developed later. Routine examination at the age of 8 years revealed a mediolateral myocardial infarction. Although LMNA mutations are known to cause Hutchinson-Gilford progeria (HGPS; <a href="/entry/176670">176670</a>) and muscular dystrophy, this was the first report of a patient combining features of these 2 phenotypes resulting from a single mutation in LMNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15622532" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Molecular Genetics</strong>
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<p>In a patient with LMNA-related congenital muscular dystrophy, <a href="#3" class="mim-tip-reference" title="Mercuri, E., Poppe, M., Quinlivan, R., Messina, S., Kinali, M., Demay, L., Bourke, J., Richard, P., Sewry, C., Pike, M., Bonne, G., Muntoni, F., Bushby, K. &lt;strong&gt;Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C Gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant.&lt;/strong&gt; Arch. Neurol. 61: 690-694, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15148145/&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;15148145&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archneur.61.5.690&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="15148145">Mercuri et al. (2004)</a> identified a de novo heterozygous mutation in the LMNA gene (E3358K; <a href="/entry/150330#0049">150330.0049</a>). Four additional unrelated patients with less severe muscular dystrophy (EDMD2; <a href="/entry/181350">181350</a>) carried the same mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15148145" 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 15 children with congenital muscular dystrophy, <a href="#4" class="mim-tip-reference" title="Quijano-Roy, S., Mbieleu, B., Bonnemann, C. G., Jeannet, P.-Y., Colomer, J., Clarke, N. F., Cuisset, J.-M., Roper, H., De Meirleir, L., D&#x27;Amico, A., Yaou, R. B., Nascimento, A., and 12 others. &lt;strong&gt;De novo LMNA mutations cause a new form of congenital muscular dystrophy.&lt;/strong&gt; Ann. Neurol. 64: 177-186, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18551513/&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;18551513&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ana.21417&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="18551513">Quijano-Roy et al. (2008)</a> identified 11 different de novo heterozygous mutations in the LMNA gene (see, e.g., <a href="/entry/150330#0047">150330.0047</a>-<a href="/entry/150330#0049">150330.0049</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18551513" 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="D&#x27;Amico2005" class="mim-anchor"></a>
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D'Amico, A., Haliloglu, G., Richard, P., Talim, B., Maugenre, S., Ferreiro, A., Guicheney, P., Menditto, I., Benedetti, S., Bertini, E., Bonne, G., Topaloglu, H.
<strong>Two patients with 'dropped head syndrome' due to mutations in LMNA or SEPN1 genes.</strong>
Neuromusc. Disord. 15: 521-524, 2005.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15961312/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15961312</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15961312" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.nmd.2005.03.006" target="_blank">Full Text</a>]
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<a id="Kirschner2005" class="mim-anchor"></a>
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Kirschner, J., Brune, T., Wehnert, M., Denecke, J., Wasner, C., Feuer, A., Marquardt, T., Ketelsen, U.-P., Wieacker, P., Bonnemann, C. G., Korinthenberg, R.
<strong>p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria.</strong>
Ann. Neurol. 57: 148-151, 2005.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15622532/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15622532</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15622532" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ana.20359" target="_blank">Full Text</a>]
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Mercuri, E., Poppe, M., Quinlivan, R., Messina, S., Kinali, M., Demay, L., Bourke, J., Richard, P., Sewry, C., Pike, M., Bonne, G., Muntoni, F., Bushby, K.
<strong>Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C Gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant.</strong>
Arch. Neurol. 61: 690-694, 2004.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15148145/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15148145</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15148145" 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.61.5.690" target="_blank">Full Text</a>]
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Quijano-Roy, S., Mbieleu, B., Bonnemann, C. G., Jeannet, P.-Y., Colomer, J., Clarke, N. F., Cuisset, J.-M., Roper, H., De Meirleir, L., D'Amico, A., Yaou, R. B., Nascimento, A., and 12 others.
<strong>De novo LMNA mutations cause a new form of congenital muscular dystrophy.</strong>
Ann. Neurol. 64: 177-186, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18551513/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18551513</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18551513" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ana.21417" target="_blank">Full Text</a>]
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Cassandra L. Kniffin : 12/31/2009
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carol : 09/27/2018
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carol : 09/27/2018<br>carol : 04/30/2012<br>terry : 3/27/2012<br>ckniffin : 1/11/2010<br>carol : 1/6/2010<br>ckniffin : 1/5/2010<br>ckniffin : 1/5/2010
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<h3>
<span class="mim-font">
<strong>#</strong> 613205
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<h3>
<span class="mim-font">
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED
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<span class="mim-font">
<em>Alternative titles; symbols</em>
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MDCL
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<span class="mim-text-font">
<strong>SNOMEDCT:</strong> 771272007; &nbsp;
<strong>ORPHA:</strong> 157973; &nbsp;
<strong>DO:</strong> 0110640; &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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<th>
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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<span class="mim-font">
1q22
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<span class="mim-font">
Muscular dystrophy, congenital
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<span class="mim-font">
613205
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Autosomal dominant
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<span class="mim-font">
3
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<span class="mim-font">
LMNA
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<td>
<span class="mim-font">
150330
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</tbody>
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<span class="mim-font">
<strong>TEXT</strong>
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<span class="mim-text-font">
<p>A number sign (#) is used with this entry because this form of congenital muscular dystrophy (MDC) is caused by heterozygous mutation in the gene encoding lamin A/C (LMNA; 150330) on chromosome 1q22.</p><p>See also Emery-Dreifuss muscular dystrophy-2 (EDMD2; 181350), an allelic disorder with overlapping features.</p>
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<span class="mim-font">
<strong>Clinical Features</strong>
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</h4>
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<p>Mercuri et al. (2004) reported a patient with LMNA-related congenital muscular dystrophy. The infant lost the ability to roll over at age 5 months, and later showed difficulties in lifting her arms and head. Other features included feeding difficulties, requiring a nasogastric tube, marked axial and limb weakness, talipes foot deformities, and increased serum creatine kinase. She also had a narrow chest and a predominantly diaphragmatic pattern of breathing. </p><p>D'Amico et al. (2005) reported an 18-month-old boy with so-called 'dropped head syndrome,' characterized by prominent neck extension weakness. His primary motor milestones were within the normal range, but he had difficulty holding up his head and problems walking at age 12 months. Neurological examination at 15 months confirmed significant neck extensor weakness with mild axial and limb girdle weakness. However, the boy could walk alone, walk up stairs, and rise from a chair, and there was no significant decrease in distal muscle strength. Cardiac examination was normal. Genetic analysis identified a de novo heterozygous 3-bp deletion in the LMNA gene (150330.0050). </p><p>Quijano-Roy et al. (2008) described a form of congenital muscular dystrophy with onset in the first year of life in 15 unrelated children. Three patients had severe early-onset disease, with decreased fetal movements in utero, no motor development, severe hypotonia, diffuse limb and axial muscle weakness and atrophy, and talipes foot deformities. There were contractures in the distal limb joints, stiff and hyperextensible spine, and neck weakness. All 3 infants required mechanical ventilation at some point, and 2 of the patients had evidence of cardiac arrhythmia. The remaining 12 children initially acquired head and trunk control and independent ambulation, but most lost head control due to neck extensor weakness, a phenotype consistent with 'dropped head syndrome.' Despite variable severity, there was a consistent clinical pattern overall among the 15 patients. They typically presented with selective axial weakness and wasting of the cervicoaxial muscles. Limb involvement was predominantly proximal in upper extremities and distal in lower extremities. Talipes feet and a rigid spine with thoracic lordosis developed early. Proximal contractures appeared later, most often in lower limbs, sparing the elbows. Ten children required ventilatory support. Cardiac arrhythmias were observed in 4 of the oldest patients, but were symptomatic only in 1. Creatine kinase levels were mild to moderately increased. Muscle biopsies showed dystrophic changes in 9 children and nonspecific myopathic changes in the remaining. Quijano-Roy et al. (2008) concluded that the LMNA mutations identified appeared to correlate with a relatively severe phenotype, broadening the spectrum of laminopathies. The authors suggested that this group of patients may define a new disease entity, which they designated LMNA-related congenital muscular dystrophy. </p><p><strong><em>Early-Onset Myopathy with Progeroid Features</em></strong></p><p>
Kirschner et al. (2005) described a young girl with a phenotype combining early-onset myopathy with progeroid features who was found to have a de novo heterozygous mutation in the LMNA gene (S143F; 150330.0034). The child presented during the first year of life with myopathy with marked axial weakness; progeroid features, including growth failure, sclerodermatous skin changes, and osteolytic lesions, developed later. Routine examination at the age of 8 years revealed a mediolateral myocardial infarction. Although LMNA mutations are known to cause Hutchinson-Gilford progeria (HGPS; 176670) and muscular dystrophy, this was the first report of a patient combining features of these 2 phenotypes resulting from a single mutation in LMNA. </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 patient with LMNA-related congenital muscular dystrophy, Mercuri et al. (2004) identified a de novo heterozygous mutation in the LMNA gene (E3358K; 150330.0049). Four additional unrelated patients with less severe muscular dystrophy (EDMD2; 181350) carried the same mutation. </p><p>In 15 children with congenital muscular dystrophy, Quijano-Roy et al. (2008) identified 11 different de novo heterozygous mutations in the LMNA gene (see, e.g., 150330.0047-150330.0049). </p>
</span>
<div>
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<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
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<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
D'Amico, A., Haliloglu, G., Richard, P., Talim, B., Maugenre, S., Ferreiro, A., Guicheney, P., Menditto, I., Benedetti, S., Bertini, E., Bonne, G., Topaloglu, H.
<strong>Two patients with &#x27;dropped head syndrome&#x27; due to mutations in LMNA or SEPN1 genes.</strong>
Neuromusc. Disord. 15: 521-524, 2005.
[PubMed: 15961312]
[Full Text: https://doi.org/10.1016/j.nmd.2005.03.006]
</p>
</li>
<li>
<p class="mim-text-font">
Kirschner, J., Brune, T., Wehnert, M., Denecke, J., Wasner, C., Feuer, A., Marquardt, T., Ketelsen, U.-P., Wieacker, P., Bonnemann, C. G., Korinthenberg, R.
<strong>p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria.</strong>
Ann. Neurol. 57: 148-151, 2005.
[PubMed: 15622532]
[Full Text: https://doi.org/10.1002/ana.20359]
</p>
</li>
<li>
<p class="mim-text-font">
Mercuri, E., Poppe, M., Quinlivan, R., Messina, S., Kinali, M., Demay, L., Bourke, J., Richard, P., Sewry, C., Pike, M., Bonne, G., Muntoni, F., Bushby, K.
<strong>Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C Gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant.</strong>
Arch. Neurol. 61: 690-694, 2004.
[PubMed: 15148145]
[Full Text: https://doi.org/10.1001/archneur.61.5.690]
</p>
</li>
<li>
<p class="mim-text-font">
Quijano-Roy, S., Mbieleu, B., Bonnemann, C. G., Jeannet, P.-Y., Colomer, J., Clarke, N. F., Cuisset, J.-M., Roper, H., De Meirleir, L., D'Amico, A., Yaou, R. B., Nascimento, A., and 12 others.
<strong>De novo LMNA mutations cause a new form of congenital muscular dystrophy.</strong>
Ann. Neurol. 64: 177-186, 2008.
[PubMed: 18551513]
[Full Text: https://doi.org/10.1002/ana.21417]
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Cassandra L. Kniffin : 12/31/2009
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carol : 09/27/2018<br>carol : 09/27/2018<br>carol : 04/30/2012<br>terry : 3/27/2012<br>ckniffin : 1/11/2010<br>carol : 1/6/2010<br>ckniffin : 1/5/2010<br>ckniffin : 1/5/2010
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