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Entry
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- #609200 - MYOPATHY, MYOFIBRILLAR, 3; MFM3
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- OMIM
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<span class="h4">#609200</span>
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/609200"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS601419"> <strong>Phenotypic Series</strong> </a>
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<a href="#description">Description</a>
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<a href="#nomenclature">Nomenclature</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(MYOPATHY, MYOFIBRILLAR) OR (MYOT)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=8718&Typ=Pat" title="Autosomal dominant limb-girdle muscular dystrophy type 1A" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Autosomal dominant limb-gi… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=13928&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Distal myotilinopathy </a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/8965" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=609200[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div id="mimOrphanetFold" class="collapse">
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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=266" title="Autosomal dominant limb-girdle muscular dystrophy type 1A" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Autosomal dominant limb-gi…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98911" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Distal myotilinopathy</a></div>
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</div>
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<div style="display: table-cell;">Animal Models</div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0080094" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/609200" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/OMIA002330/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 266, 98911<br />
|
|
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<strong>DO:</strong> 0080094<br />
|
|
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">ICD+</a>
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</div>
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<div>
|
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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609200
|
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</span>
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
<div>
|
|
<a id="preferredTitle" class="mim-anchor"></a>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
MYOPATHY, MYOFIBRILLAR, 3; MFM3
|
|
|
|
</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">
|
|
MYOTILINOPATHY<br />
|
|
MYOPATHY, MYOFIBRILLAR, MYOTILIN-RELATED<br />
|
|
MYOPATHY, SPHEROID BODY<br />
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1, FORMERLY; LGMD1, FORMERLY<br />
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A, FORMERLY; LGMD1A, FORMERLY
|
|
</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/5/497?start=-3&limit=10&highlight=497">
|
|
5q31.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Myopathy, myofibrillar, 3
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609200"> 609200 </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">
|
|
MYOT
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604103"> 604103 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/609200" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS601419" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/609200" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/609200" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cardiomyopathy (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/85898001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">85898001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57809008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57809008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I51.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I51.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I42" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I42</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I42.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I42.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/425" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">425</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0878544&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0878544</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001638" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001638</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001638" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001638</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Feet </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Achilles tendon contractures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/203076007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">203076007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0410264&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0410264</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001771" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001771</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001771" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001771</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, distal, progressive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836609&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836609</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009063" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009063</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009063" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009063</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249942005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249942005</a>]</span><br /> -
|
|
Muscle atrophy, distal <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848736&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848736</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003693" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003693</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003693" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003693</a>]</span><br /> -
|
|
Proximal muscle involvement may occur <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836610&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836610</a>]</span><br /> -
|
|
Muscle stiffness or aching <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836611&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836611</a>]</span><br /> -
|
|
EMG shows myopathic and neurogenic changes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836612&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836612</a>]</span><br /> -
|
|
Muscle biopsy shows myofibrillar myopathy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836054&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836054</a>]</span><br /> -
|
|
Abnormal muscle fibers with amorphous, granular, or hyaline deposits <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836055&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836055</a>]</span><br /> -
|
|
Congophilic staining <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836613&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836613</a>]</span><br /> -
|
|
Increased staining for myotilin, dystrophin, desmin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836614&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836614</a>]</span><br /> -
|
|
Electron microscopy shows dense material emanating from the Z-disk <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836615&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836615</a>]</span><br /> -
|
|
Phagocytic vacuoles with degraded membranous material <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836616&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836616</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> Peripheral Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Peripheral neuropathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42658009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42658009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302226006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302226006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G64" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G64</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/350-359.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">350-359.99</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4721453&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4721453</a>, <a href="https://bioportal.bioontology.org/search?q=C0031117&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0031117</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009830" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009830</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000759" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000759</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001271" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001271</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009830" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009830</a>]</span><br /> -
|
|
Hyporeflexia/areflexia in lower limbs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1834696&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1834696</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002600" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002600</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002600" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002600</a>]</span><br />
|
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|
</span>
|
|
</div>
|
|
</div>
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|
</div>
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- 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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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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|
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<div>
|
|
<span class="mim-font">
|
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|
|
- Adult onset (mean 60 years) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853562&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853562</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003581" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003581</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003581" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003581</a>]</span><br /> -
|
|
Slowly progressive disorder <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854494&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854494</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003677</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003677</a>]</span><br />
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|
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</span>
|
|
</div>
|
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|
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</div>
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|
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</div>
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the myotilin gene (MYOT, <a href="/entry/604103#0001">604103.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
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|
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</div>
|
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|
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</div>
|
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|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
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|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
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|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Myopathy, myofibrillar
|
|
- <a href="/phenotypicSeries/PS601419">PS601419</a>
|
|
- 14 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/823?start=-3&limit=10&highlight=823"> 2q31.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603689"> Myopathy, myofibrillar, 9, with early respiratory failure </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603689"> 603689 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/188840"> TTN </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/188840"> 188840 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/1040?start=-3&limit=10&highlight=1040"> 2q35 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601419"> Myopathy, myofibrillar, 1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601419"> 601419 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/125660"> DES </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/125660"> 125660 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/702?start=-3&limit=10&highlight=702"> 3q22.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617114"> Myopathy, myofibrillar, 7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617114"> 617114 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605739"> KY </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605739"> 605739 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/497?start=-3&limit=10&highlight=497"> 5q31.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609200"> Myopathy, myofibrillar, 3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609200"> 609200 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604103"> MYOT </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604103"> 604103 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/659?start=-3&limit=10&highlight=659"> 7q32.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609524"> Myopathy, myofibrillar, 5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609524"> 609524 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/102565"> FLNC </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/102565"> 102565 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/129?start=-3&limit=10&highlight=129"> 10p11.23 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619040"> Myofibrillar myopathy 10 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619040"> 619040 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604126"> SVIL </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604126"> 604126 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/355?start=-3&limit=10&highlight=355"> 10q23.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609452"> Myopathy, myofibrillar, 4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<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>
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<a href="/entry/612954"> Myopathy, myofibrillar, 6 </a>
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<a href="/entry/123590"> CRYAB </a>
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<a href="/entry/123590"> 123590 </a>
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<a href="/entry/613869"> Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related </a>
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<a href="/entry/617258"> Myopathy, myofibrillar, 8 </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<a href="/entry/619424"> Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy </a>
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<a href="/entry/621078"> Myopathy, myofibrillar, 13, with rimmed vacuoles </a>
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<a href="/entry/619178"> Myofibrillar myopathy 11 </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<a href="/entry/611220"> UNC45B </a>
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<a href="/entry/611220"> 611220 </a>
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because myofibrillar myopathy-3 (MFM3) is caused by heterozygous mutation in the TTID gene (MYOT; <a href="/entry/604103">604103</a>) on chromosome 5q31.</p>
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<p>Myofibrillar myopathy refers to a genetically heterogeneous group of muscular disorders characterized by a pathologic morphologic pattern of myofibrillar degradation and abnormal accumulation of proteins involved with the sarcomeric Z disc (summary by <a href="#3" class="mim-tip-reference" title="Foroud, T., Pankratz, N., Batchman, A. P., Pauciulo, M. W., Vidal, R., Miravalle, L., Goebel, H. H., Cushman, L. J., Azzarelli, B., Horak, H., Farlow, M., Nichols, W. C. <strong>A mutation in myotilin causes spheroid body myopathy.</strong> Neurology 65: 1936-1940, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16380616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16380616</a>] [<a href="https://doi.org/10.1212/01.wnl.0000188872.28149.9a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16380616">Foroud et al., 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16380616" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (<a href="/entry/601419">601419</a>).</p>
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<p>Some cases of myofibrillar myopathy-3 were previously classified as a form of limb-girdle muscular dystrophy (type 1A; LGMD1A). <a href="#16" class="mim-tip-reference" title="Straub, V., Murphy, A., Udd, B. <strong>229th ENMC international workshop: limb girdle muscular dystrophies--nomenclature and reformed classification, Naarden, the Netherlands, 17-19 March 2017.</strong> Neuromusc. Disord. 28: 702-710, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30055862/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30055862</a>] [<a href="https://doi.org/10.1016/j.nmd.2018.05.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30055862">Straub et al. (2018)</a>, on behalf of the LGMD workshop study group, reclassified LGMD1A as a form of myofibrillar myopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30055862" 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>Clinical Features</strong>
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<p><a href="#7" class="mim-tip-reference" title="Goebel, H. H., Muller, J., Gillen, H. W., Merritt, A. D. <strong>Autosomal dominant 'spheroid body myopathy'.</strong> Muscle Nerve 1: 14-26, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/571956/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">571956</a>] [<a href="https://doi.org/10.1002/mus.880010104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="571956">Goebel et al. (1978)</a> described a family from Indiana in which 15 members spanning 4 generations had a slowly progressive autosomal dominant myopathy. The disorder began in adolescence and proceeded to some motor incapacitation, but life span was not shortened. Muscle weakness was predominantly proximal, but some patients also had distal weakness. Skeletal muscle biopsy showed an accumulation of myofilamentous material within individual muscle fibers, which the authors termed 'spheroid bodies.' Most of the spheroid bodies were present in type 1 fibers and were devoid of enzyme activity. They were more common in the periphery of muscle fibers and were present as singles, multiples, and aggregates. Other skeletal muscle biopsy features included centralized nuclei, variation in fiber size, and occasional necrosis. Electron microscopy showed that the spheroid bodies were composed of fine filaments resembling a ball of twine; streaming of the Z disc was also observed. The pathologic changes were much more pronounced in biopsies from older patients compared to those from younger patients. Based on these distinct morphologic features, the authors suggested the term 'spheroid body myopathy,' and proposed a primary disturbance of contractile myofibrillar material. <a href="#6" class="mim-tip-reference" title="Goebel, H. H., D'Agostino, A. N., Wilson, J., Cole, G., Foroud, T., Koller, D., Farlow, M., Azzarelli, B., Muller, J. <strong>Spheroid body myopathy revisited.</strong> Muscle Nerve 20: 1127-1136, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9270668/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9270668</a>] [<a href="https://doi.org/10.1002/(sici)1097-4598(199709)20:9<1127::aid-mus6>3.0.co;2-a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9270668">Goebel et al. (1997)</a> provided follow-up on the family reported by <a href="#7" class="mim-tip-reference" title="Goebel, H. H., Muller, J., Gillen, H. W., Merritt, A. D. <strong>Autosomal dominant 'spheroid body myopathy'.</strong> Muscle Nerve 1: 14-26, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/571956/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">571956</a>] [<a href="https://doi.org/10.1002/mus.880010104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="571956">Goebel et al. (1978)</a> and described a distantly related family from Oregon. Clinically, affected individuals from the Oregon family had a milder disease compared to those from the Indiana family. The Oregon family had onset in the third or fourth decade of life and usually had only mild muscle weakness. EMG findings were consistent with a myopathic disease process. However, skeletal muscle findings of spheroid bodies in the 2 families were strikingly similar. The spheroid bodies contained increased amounts of desmin (DES; <a href="/entry/125660">125660</a>), alpha-beta crystallin (CRYAB; <a href="/entry/123590">123590</a>), and ubiquitin (UBB; <a href="/entry/191339">191339</a>), suggestive of a desminopathy. In 21 affected members of the kindred reported by Goebel et al. (<a href="#7" class="mim-tip-reference" title="Goebel, H. H., Muller, J., Gillen, H. W., Merritt, A. D. <strong>Autosomal dominant 'spheroid body myopathy'.</strong> Muscle Nerve 1: 14-26, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/571956/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">571956</a>] [<a href="https://doi.org/10.1002/mus.880010104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="571956">1978</a>, <a href="#6" class="mim-tip-reference" title="Goebel, H. H., D'Agostino, A. N., Wilson, J., Cole, G., Foroud, T., Koller, D., Farlow, M., Azzarelli, B., Muller, J. <strong>Spheroid body myopathy revisited.</strong> Muscle Nerve 20: 1127-1136, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9270668/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9270668</a>] [<a href="https://doi.org/10.1002/(sici)1097-4598(199709)20:9<1127::aid-mus6>3.0.co;2-a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9270668">1997</a>), <a href="#3" class="mim-tip-reference" title="Foroud, T., Pankratz, N., Batchman, A. P., Pauciulo, M. W., Vidal, R., Miravalle, L., Goebel, H. H., Cushman, L. J., Azzarelli, B., Horak, H., Farlow, M., Nichols, W. C. <strong>A mutation in myotilin causes spheroid body myopathy.</strong> Neurology 65: 1936-1940, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16380616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16380616</a>] [<a href="https://doi.org/10.1212/01.wnl.0000188872.28149.9a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16380616">Foroud et al. (2005)</a> identified a mutation in the TTID gene (S39F; <a href="/entry/604103#0006">604103.0006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=571956+9270668+16380616" 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="Gilchrist, J. M., Pericak-Vance, M., Silverman, L., Roses, A. D. <strong>Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy.</strong> Neurology 38: 5-9, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3275904/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3275904</a>] [<a href="https://doi.org/10.1212/wnl.38.1.5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3275904">Gilchrist et al. (1988)</a> reported a large family from southeastern West Virginia diagnosed with autosomal dominant limb-girdle muscular dystrophy. Sixteen members had onset in their early to mid-twenties of proximal leg weakness which progressed to inhibit ambulation and to involve their proximal upper extremities. The patients had elevated CK levels and myopathic EMG and biopsy findings. No conclusive linkage was demonstrated. <a href="#5" class="mim-tip-reference" title="Gilchrist, J., Speer, M., Gaskell, P., Pericak-Vance, M., Silverman, L., Roses, A. <strong>Autosomal dominant limb-girdle muscular dystrophy. (Abstract)</strong> Am. J. Hum. Genet. 43: A51 only, 1988."None>Gilchrist et al. (1988)</a> reported that the same pedigree had been enlarged to include 51 affected members over 7 generations. Other manifestations included absent ankle jerks, heel-cord contractures, and dysarthria. Penetrance was incomplete and age-dependent, as there were several obligate carriers who were clinically unaffected. <a href="#5" class="mim-tip-reference" title="Gilchrist, J., Speer, M., Gaskell, P., Pericak-Vance, M., Silverman, L., Roses, A. <strong>Autosomal dominant limb-girdle muscular dystrophy. (Abstract)</strong> Am. J. Hum. Genet. 43: A51 only, 1988."None>Gilchrist et al. (1988)</a> also reported a second family with 4 affected members in 2 generations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3275904" 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 the large family with LGMD1A first reported by <a href="#4" class="mim-tip-reference" title="Gilchrist, J. M., Pericak-Vance, M., Silverman, L., Roses, A. D. <strong>Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy.</strong> Neurology 38: 5-9, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3275904/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3275904</a>] [<a href="https://doi.org/10.1212/wnl.38.1.5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3275904">Gilchrist et al. (1988)</a>, <a href="#14" class="mim-tip-reference" title="Speer, M. C., Gilchrist, J. M., Stajich, J. M., Gaskell, P. C., Westbrook, C. A., Horrigan, S. K., Bartoloni, L., Yamaoka, L. H., Scott, W. K., Pericak-Vance, M. A. <strong>Evidence for anticipation in autosomal dominant limb-girdle muscular dystrophy.</strong> J. Med. Genet. 35: 305-308, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9598725/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9598725</a>] [<a href="https://doi.org/10.1136/jmg.35.4.305" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9598725">Speer et al. (1998)</a> studied 25 parent-offspring pairs in which the parents were 3 (3R), 4 (4R), or 5 (5R) generations removed from a common founding ancestor. A life table showed significant decreases in age at first reported symptoms in the offspring of the 3R and 4R parents, suggesting anticipation. Pairwise analysis confirmed this decrease, with a median decrease of 13 years in transmission to offspring from 3R parents and 18 years in transmission to offspring from 4R parents. <a href="#14" class="mim-tip-reference" title="Speer, M. C., Gilchrist, J. M., Stajich, J. M., Gaskell, P. C., Westbrook, C. A., Horrigan, S. K., Bartoloni, L., Yamaoka, L. H., Scott, W. K., Pericak-Vance, M. A. <strong>Evidence for anticipation in autosomal dominant limb-girdle muscular dystrophy.</strong> J. Med. Genet. 35: 305-308, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9598725/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9598725</a>] [<a href="https://doi.org/10.1136/jmg.35.4.305" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9598725">Speer et al. (1998)</a> concluded that LGMD1A may result from the expansion of an unstable trinucleotide repeat. In the large family that was first diagnosed with LGMD1A by <a href="#4" class="mim-tip-reference" title="Gilchrist, J. M., Pericak-Vance, M., Silverman, L., Roses, A. D. <strong>Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy.</strong> Neurology 38: 5-9, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3275904/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3275904</a>] [<a href="https://doi.org/10.1212/wnl.38.1.5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3275904">Gilchrist et al. (1988)</a>, <a href="#9" class="mim-tip-reference" title="Hauser, M. A., Horrigan, S. K., Salmikangas, P., Torian, U. M., Viles, K. D., Dancel, R., Tim, R. W., Taivainen, A., Bartoloni, L., Gilchrist, J. M., Stajich, J. M., Gaskell, P. C., Gilbert, J. R., Vance, J. M., Pericak-Vance, M. A., Carpen, O., Westbrook, C. A., Speer, M. C. <strong>Myotilin is mutated in limb girdle muscular dystrophy 1A.</strong> Hum. Molec. Genet. 9: 2141-2147, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10958653/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10958653</a>] [<a href="https://doi.org/10.1093/hmg/9.14.2141" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10958653">Hauser et al. (2000)</a> identified a mutation in the myotilin gene (T57I; <a href="/entry/604103#0001">604103.0001</a>) that segregated with the disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9598725+3275904+10958653" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Hauser, M. A., Conde, C. B., Kowaljow, V., Zeppa, G., Taratuto, A. L., Torian, U. M., Vance, J., Pericak-Vance, M. A., Speer, M. C., Rosa, A. L. <strong>Myotilin mutation found in second pedigree with LGMD1A.</strong> Am. J. Hum. Genet. 71: 1428-1432, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12428213/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12428213</a>] [<a href="https://doi.org/10.1086/344532" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12428213">Hauser et al. (2002)</a> noted that some individuals with LGMD1A exhibit a distinctive nasal, dysarthric pattern of speech. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12428213" 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="Reilich, P., Krause, S., Schramm, N., Klutzny, U., Bulst, S., Zehetmayer, B., Schneiderat, P., Walter, M. C., Schoser, B., Lochmuller, H. <strong>A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A).</strong> J. Neurol. 258: 1437-1444, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21336781/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21336781</a>] [<a href="https://doi.org/10.1007/s00415-011-5953-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21336781">Reilich et al. (2011)</a> reported a Turkish woman with a rapidly progressive disease course of LGMD1A. She developed progressive proximal weakness of the lower limbs at age 40 years followed by proximal upper limb weakness, and subsequently developed mild distal muscle weakness. She was wheelchair-dependent at age 50. Within the next 3 years, she developed respiratory insufficiency and dysphagia, resulting in death from pneumonia at age 55. Muscle imaging showed fatty degeneration of most proximal muscles in both the upper and lower limbs, as well as in the thoracic and abdominal cavities. Muscle biopsy at age 40 showed a mild myopathic pattern with increased fiber size variability, some central nuclei, some autophagocytic vacuoles, and mild fibrosis; there were no signs of a myofibrillar myopathy. The patient's mother and 1 sister were reportedly less severely affected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21336781" 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="#13" class="mim-tip-reference" title="Selcen, D., Engel, A. G. <strong>Mutations in myotilin cause myofibrillar myopathy.</strong> Neurology 62: 1363-1371, 2004. Note: Erratum: Neurology 63: 405 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15111675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15111675</a>] [<a href="https://doi.org/10.1212/01.wnl.0000123576.74801.75" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15111675">Selcen and Engel (2004)</a> reported 6 unrelated patients with myofibrillar myopathy caused by mutation in the myotilin gene. Age at symptom onset ranged from 50 to 77 years (mean, 59.8 years). One patient had a brother with distal leg weakness and another patient had an affected brother and an affected son, suggesting autosomal dominant inheritance. The main features included progressive distal muscle weakness and peripheral neuropathy with hyporeflexia. One patient had generalized muscle weakness and 1 reported more severe proximal muscle weakness. Three of 6 patients had elevated creatine kinase and 3 had cardiomyopathy. EMG studies showed myopathic and neurogenic changes. Muscle biopsies from all patients showed abnormal muscle fibers with amorphous, granular, or hyaline deposits that were dark blue or blue red in color. Some hyaline structures were intensely congophilic, indicating beta-pleated amyloid (<a href="/entry/104760">104760</a>) sheets. Abnormal fibers stained strongly for myotilin, alpha-B crystallin (<a href="/entry/123590">123590</a>), dystrophin (<a href="/entry/300377">300377</a>), and desmin (<a href="/entry/125660">125660</a>), among other proteins. Electron microscopy of 2 patients showed streaks of dense material emanating from Z discs. Hyaline structures consisted of compacted fragmented filaments of variable electron density. Some muscle fibers contained membrane-bound vacuoles with degraded material. <a href="#13" class="mim-tip-reference" title="Selcen, D., Engel, A. G. <strong>Mutations in myotilin cause myofibrillar myopathy.</strong> Neurology 62: 1363-1371, 2004. Note: Erratum: Neurology 63: 405 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15111675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15111675</a>] [<a href="https://doi.org/10.1212/01.wnl.0000123576.74801.75" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15111675">Selcen and Engel (2004)</a> concluded that in all forms of myofibrillar myopathy, the Z disc is the earliest site of pathologic change, followed by disorganization of the fiber architecture, accumulation of degraded filamentous material in larger aggregates, and accumulation and degradation of dislocated membranous material in autophagic vacuoles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15111675" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In the large family in which 51 individuals were first diagnosed with limb-girdle muscular dystrophy by <a href="#4" class="mim-tip-reference" title="Gilchrist, J. M., Pericak-Vance, M., Silverman, L., Roses, A. D. <strong>Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy.</strong> Neurology 38: 5-9, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3275904/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3275904</a>] [<a href="https://doi.org/10.1212/wnl.38.1.5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3275904">Gilchrist et al. (1988)</a>, <a href="#15" class="mim-tip-reference" title="Speer, M. C., Yamaoka, L. H., Gilchrist, J. H., Gaskell, C. P., Stajich, J. M., Vance, J. M., Kazantsev, A., Lastra, A. A., Haynes, C. S., Beckmann, J. S., Cohen, D., Weber, J. L., Roses, A. D., Pericak-Vance, M. A. <strong>Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form to chromosome 5q.</strong> Am. J. Hum. Genet. 50: 1211-1217, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1598902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1598902</a>]" pmid="1598902">Speer et al. (1992)</a> found linkage to CA(n) microsatellite repeat markers on chromosome 5 and localized the LGMD1A locus to 5q22.3-q31.3. They excluded linkage to 15q. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1598902+3275904" 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>From information on the same large family studied by <a href="#15" class="mim-tip-reference" title="Speer, M. C., Yamaoka, L. H., Gilchrist, J. H., Gaskell, C. P., Stajich, J. M., Vance, J. M., Kazantsev, A., Lastra, A. A., Haynes, C. S., Beckmann, J. S., Cohen, D., Weber, J. L., Roses, A. D., Pericak-Vance, M. A. <strong>Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form to chromosome 5q.</strong> Am. J. Hum. Genet. 50: 1211-1217, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1598902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1598902</a>]" pmid="1598902">Speer et al. (1992)</a>, <a href="#17" class="mim-tip-reference" title="Yamaoka, L. H., Westbrook, C. A., Speer, M. C., Gilchrist, J. M., Jabs, E. W., Schweins, E. G., Stajich, J. M., Gaskell, P. C., Roses, A. D., Pericak-Vance, M. A. <strong>Development of a microsatellite genetic map spanning 5q31-q33 and subsequent placement of the LGMD1A locus between D5S178 and IL9.</strong> Neuromusc. Disord. 4: 471-475, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7881291/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7881291</a>] [<a href="https://doi.org/10.1016/0960-8966(94)90086-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7881291">Yamaoka et al. (1994)</a> developed a microsatellite genetic map in 5q31-q33 and used this to refine the localization further. Using multipoint analysis, they localized LGMD1A to a 7-cM region between markers IL9 and D5S178. Again using the same large family, <a href="#1" class="mim-tip-reference" title="Bartoloni, L., Horrigan, S. K., Viles, K. D., Gilchrist, J. M., Stajich, J. M., Vance, J. M., Yamaoka, L. H., Pericak-Vance, M. A., Westbrook, C. A., Speer, M. C. <strong>Use of a CEPH meiotic breakpoint panel to refine the locus of limb-girdle muscular dystrophy type 1A (LGMD1A) to a 2-Mb interval on 5q31.</strong> Genomics 54: 250-255, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9828127/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9828127</a>] [<a href="https://doi.org/10.1006/geno.1998.5579" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9828127">Bartoloni et al. (1998)</a> further narrowed the location of the LGMD1A gene to an interval bounded by D5S479 and D5S594, estimated to be 2 Mb in size. They used a high-resolution physical map of the region to identify and provisionally localize 25 polymorphic markers. Using a CEPH meiotic breakpoint panel, they then ordered a subset of these markers genetically and constructed an integrated physical-genetic map of the region. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7881291+9828127+1598902" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Falk, C. T., Gilchrist, J. M., Pericak-Vance, M. A., Speer, M. C. <strong>Using neural networks as an aid in the determination of disease status: comparison of clinical diagnosis to neural-network predictions in a pedigree with autosomal dominant limb-girdle muscular dystrophy.</strong> Am. J. Hum. Genet. 62: 941-949, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9529338/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9529338</a>] [<a href="https://doi.org/10.1086/301780" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9529338">Falk et al. (1998)</a> proposed the methods of artificial neural-network analysis to determine disease status in conditions such as LGMD1A where there is confusion because of variability in diagnostic criteria, age at onset, and differential presentation of disease. The method entails 'training' an artificial neural network with input facts (based on diagnostic criteria) and related results (based on disease diagnosis). The network contains weight factors connecting input 'neurons' to output 'neurons,' and these connections are adjusted until the network can reliably produce the appropriate outputs for the given input facts. The trained network can be 'tested' with a second set of facts. <a href="#2" class="mim-tip-reference" title="Falk, C. T., Gilchrist, J. M., Pericak-Vance, M. A., Speer, M. C. <strong>Using neural networks as an aid in the determination of disease status: comparison of clinical diagnosis to neural-network predictions in a pedigree with autosomal dominant limb-girdle muscular dystrophy.</strong> Am. J. Hum. Genet. 62: 941-949, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9529338/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9529338</a>] [<a href="https://doi.org/10.1086/301780" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9529338">Falk et al. (1998)</a> applied the method to members of the large pedigree with LGMD1A originally reported by <a href="#4" class="mim-tip-reference" title="Gilchrist, J. M., Pericak-Vance, M., Silverman, L., Roses, A. D. <strong>Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy.</strong> Neurology 38: 5-9, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3275904/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3275904</a>] [<a href="https://doi.org/10.1212/wnl.38.1.5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3275904">Gilchrist et al. (1988)</a>. They used diagnostic criteria and disease status to train a neural network to classify individuals as 'affected' or 'not affected.' The trained network reproduced the disease diagnosis of all individuals of known phenotype with 98% reliability. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3275904+9529338" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In the large family that was first diagnosed with LGMD1A by <a href="#4" class="mim-tip-reference" title="Gilchrist, J. M., Pericak-Vance, M., Silverman, L., Roses, A. D. <strong>Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy.</strong> Neurology 38: 5-9, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3275904/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3275904</a>] [<a href="https://doi.org/10.1212/wnl.38.1.5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3275904">Gilchrist et al. (1988)</a>, <a href="#9" class="mim-tip-reference" title="Hauser, M. A., Horrigan, S. K., Salmikangas, P., Torian, U. M., Viles, K. D., Dancel, R., Tim, R. W., Taivainen, A., Bartoloni, L., Gilchrist, J. M., Stajich, J. M., Gaskell, P. C., Gilbert, J. R., Vance, J. M., Pericak-Vance, M. A., Carpen, O., Westbrook, C. A., Speer, M. C. <strong>Myotilin is mutated in limb girdle muscular dystrophy 1A.</strong> Hum. Molec. Genet. 9: 2141-2147, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10958653/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10958653</a>] [<a href="https://doi.org/10.1093/hmg/9.14.2141" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10958653">Hauser et al. (2000)</a> identified a heterozygous mutation in the myotilin gene (T57I; <a href="/entry/604103#0001">604103.0001</a>) that segregated with the disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3275904+10958653" 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>Of 42 families diagnosed with autosomal dominant LGMD, <a href="#8" class="mim-tip-reference" title="Hauser, M. A., Conde, C. B., Kowaljow, V., Zeppa, G., Taratuto, A. L., Torian, U. M., Vance, J., Pericak-Vance, M. A., Speer, M. C., Rosa, A. L. <strong>Myotilin mutation found in second pedigree with LGMD1A.</strong> Am. J. Hum. Genet. 71: 1428-1432, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12428213/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12428213</a>] [<a href="https://doi.org/10.1086/344532" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12428213">Hauser et al. (2002)</a> identified an Argentinian family with a mutation in the myotilin gene (S55F; <a href="/entry/604103#0002">604103.0002</a>) that segregated with the disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12428213" 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 21 affected members of a large kindred with 'spheroid body myopathy' reported by Goebel et al. (<a href="#7" class="mim-tip-reference" title="Goebel, H. H., Muller, J., Gillen, H. W., Merritt, A. D. <strong>Autosomal dominant 'spheroid body myopathy'.</strong> Muscle Nerve 1: 14-26, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/571956/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">571956</a>] [<a href="https://doi.org/10.1002/mus.880010104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="571956">1978</a>, <a href="#6" class="mim-tip-reference" title="Goebel, H. H., D'Agostino, A. N., Wilson, J., Cole, G., Foroud, T., Koller, D., Farlow, M., Azzarelli, B., Muller, J. <strong>Spheroid body myopathy revisited.</strong> Muscle Nerve 20: 1127-1136, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9270668/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9270668</a>] [<a href="https://doi.org/10.1002/(sici)1097-4598(199709)20:9<1127::aid-mus6>3.0.co;2-a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9270668">1997</a>), <a href="#3" class="mim-tip-reference" title="Foroud, T., Pankratz, N., Batchman, A. P., Pauciulo, M. W., Vidal, R., Miravalle, L., Goebel, H. H., Cushman, L. J., Azzarelli, B., Horak, H., Farlow, M., Nichols, W. C. <strong>A mutation in myotilin causes spheroid body myopathy.</strong> Neurology 65: 1936-1940, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16380616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16380616</a>] [<a href="https://doi.org/10.1212/01.wnl.0000188872.28149.9a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16380616">Foroud et al. (2005)</a> identified a heterozygous mutation in the TTID gene (S39F; <a href="/entry/604103#0006">604103.0006</a>), consistent with a myofibrillar myopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=571956+9270668+16380616" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Turkish woman diagnosed with LGMD1A, <a href="#12" class="mim-tip-reference" title="Reilich, P., Krause, S., Schramm, N., Klutzny, U., Bulst, S., Zehetmayer, B., Schneiderat, P., Walter, M. C., Schoser, B., Lochmuller, H. <strong>A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A).</strong> J. Neurol. 258: 1437-1444, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21336781/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21336781</a>] [<a href="https://doi.org/10.1007/s00415-011-5953-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21336781">Reilich et al. (2011)</a> identified a heterozygous mutation in the MYOT gene (R6H; <a href="/entry/604103#0007">604103.0007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21336781" 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 6 of 57 unrelated patients with myofibrillar myopathy, <a href="#13" class="mim-tip-reference" title="Selcen, D., Engel, A. G. <strong>Mutations in myotilin cause myofibrillar myopathy.</strong> Neurology 62: 1363-1371, 2004. Note: Erratum: Neurology 63: 405 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15111675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15111675</a>] [<a href="https://doi.org/10.1212/01.wnl.0000123576.74801.75" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15111675">Selcen and Engel (2004)</a> identified 4 heterozygous mutations in the myotilin gene (<a href="/entry/604103#0002">604103.0002</a>-<a href="/entry/604103#0005">604103.0005</a>). They termed the disorder 'myotilinopathy' to distinguish it from other forms of myofibrillar myopathy. <a href="#13" class="mim-tip-reference" title="Selcen, D., Engel, A. G. <strong>Mutations in myotilin cause myofibrillar myopathy.</strong> Neurology 62: 1363-1371, 2004. Note: Erratum: Neurology 63: 405 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15111675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15111675</a>] [<a href="https://doi.org/10.1212/01.wnl.0000123576.74801.75" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15111675">Selcen and Engel (2004)</a> noted that patients diagnosed with LGMD1A who have mutations in the myotilin gene develop distal muscle weakness and hyporeflexia later in the disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15111675" 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="#Henson1967" class="mim-tip-reference" title="Henson, T. E., Muller, J., DeMyer, W. E. <strong>Hereditary myopathy limited to females.</strong> Arch. Neurol. 17: 238-247, 1967.">Henson et al. (1967)</a>; <a href="#Heyck1969" class="mim-tip-reference" title="Heyck, H., Laudahn, G. <strong>Die progressiv-dystrophischen Myopathien.</strong> Berlin: Springer (pub.) 1969. Pp. 54-60.">Heyck and Laudahn (1969)</a>
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Bartoloni, L., Horrigan, S. K., Viles, K. D., Gilchrist, J. M., Stajich, J. M., Vance, J. M., Yamaoka, L. H., Pericak-Vance, M. A., Westbrook, C. A., Speer, M. C.
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<strong>Use of a CEPH meiotic breakpoint panel to refine the locus of limb-girdle muscular dystrophy type 1A (LGMD1A) to a 2-Mb interval on 5q31.</strong>
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Genomics 54: 250-255, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9828127/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9828127</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9828127" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.1998.5579" target="_blank">Full Text</a>]
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<strong>Using neural networks as an aid in the determination of disease status: comparison of clinical diagnosis to neural-network predictions in a pedigree with autosomal dominant limb-girdle muscular dystrophy.</strong>
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Am. J. Hum. Genet. 62: 941-949, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9529338/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9529338</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9529338" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Foroud, T., Pankratz, N., Batchman, A. P., Pauciulo, M. W., Vidal, R., Miravalle, L., Goebel, H. H., Cushman, L. J., Azzarelli, B., Horak, H., Farlow, M., Nichols, W. C.
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<strong>A mutation in myotilin causes spheroid body myopathy.</strong>
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Neurology 65: 1936-1940, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16380616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16380616</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16380616" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy.</strong>
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Neurology 38: 5-9, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3275904/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3275904</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3275904" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Autosomal dominant limb-girdle muscular dystrophy. (Abstract)</strong>
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Am. J. Hum. Genet. 43: A51 only, 1988.
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Goebel, H. H., D'Agostino, A. N., Wilson, J., Cole, G., Foroud, T., Koller, D., Farlow, M., Azzarelli, B., Muller, J.
|
|
<strong>Spheroid body myopathy revisited.</strong>
|
|
Muscle Nerve 20: 1127-1136, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9270668/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9270668</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9270668" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/(sici)1097-4598(199709)20:9<1127::aid-mus6>3.0.co;2-a" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Goebel1978" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Goebel, H. H., Muller, J., Gillen, H. W., Merritt, A. D.
|
|
<strong>Autosomal dominant 'spheroid body myopathy'.</strong>
|
|
Muscle Nerve 1: 14-26, 1978.
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|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/571956/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">571956</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=571956" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/mus.880010104" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Hauser2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hauser, M. A., Conde, C. B., Kowaljow, V., Zeppa, G., Taratuto, A. L., Torian, U. M., Vance, J., Pericak-Vance, M. A., Speer, M. C., Rosa, A. L.
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|
<strong>Myotilin mutation found in second pedigree with LGMD1A.</strong>
|
|
Am. J. Hum. Genet. 71: 1428-1432, 2002.
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|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12428213/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12428213</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12428213" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/344532" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Hauser2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hauser, M. A., Horrigan, S. K., Salmikangas, P., Torian, U. M., Viles, K. D., Dancel, R., Tim, R. W., Taivainen, A., Bartoloni, L., Gilchrist, J. M., Stajich, J. M., Gaskell, P. C., Gilbert, J. R., Vance, J. M., Pericak-Vance, M. A., Carpen, O., Westbrook, C. A., Speer, M. C.
|
|
<strong>Myotilin is mutated in limb girdle muscular dystrophy 1A.</strong>
|
|
Hum. Molec. Genet. 9: 2141-2147, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10958653/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10958653</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10958653" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/9.14.2141" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Henson1967" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Henson, T. E., Muller, J., DeMyer, W. E.
|
|
<strong>Hereditary myopathy limited to females.</strong>
|
|
Arch. Neurol. 17: 238-247, 1967.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6053567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6053567</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6053567" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1001/archneur.1967.00470270016003" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Heyck1969" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Heyck, H., Laudahn, G.
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<strong>Die progressiv-dystrophischen Myopathien.</strong>
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Berlin: Springer (pub.) 1969. Pp. 54-60.
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</p>
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</div>
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Reilich2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Reilich, P., Krause, S., Schramm, N., Klutzny, U., Bulst, S., Zehetmayer, B., Schneiderat, P., Walter, M. C., Schoser, B., Lochmuller, H.
|
|
<strong>A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A).</strong>
|
|
J. Neurol. 258: 1437-1444, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21336781/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21336781</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21336781" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s00415-011-5953-9" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="Selcen2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Selcen, D., Engel, A. G.
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<strong>Mutations in myotilin cause myofibrillar myopathy.</strong>
|
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Neurology 62: 1363-1371, 2004. Note: Erratum: Neurology 63: 405 only, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15111675/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15111675</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15111675" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1212/01.wnl.0000123576.74801.75" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="14" class="mim-anchor"></a>
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<a id="Speer1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Speer, M. C., Gilchrist, J. M., Stajich, J. M., Gaskell, P. C., Westbrook, C. A., Horrigan, S. K., Bartoloni, L., Yamaoka, L. H., Scott, W. K., Pericak-Vance, M. A.
|
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<strong>Evidence for anticipation in autosomal dominant limb-girdle muscular dystrophy.</strong>
|
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J. Med. Genet. 35: 305-308, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9598725/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9598725</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9598725" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.35.4.305" target="_blank">Full Text</a>]
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<li>
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<a id="15" class="mim-anchor"></a>
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<a id="Speer1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Speer, M. C., Yamaoka, L. H., Gilchrist, J. H., Gaskell, C. P., Stajich, J. M., Vance, J. M., Kazantsev, A., Lastra, A. A., Haynes, C. S., Beckmann, J. S., Cohen, D., Weber, J. L., Roses, A. D., Pericak-Vance, M. A.
|
|
<strong>Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form to chromosome 5q.</strong>
|
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Am. J. Hum. Genet. 50: 1211-1217, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1598902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1598902</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1598902" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="16" class="mim-anchor"></a>
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<a id="Straub2018" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Straub, V., Murphy, A., Udd, B.
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<strong>229th ENMC international workshop: limb girdle muscular dystrophies--nomenclature and reformed classification, Naarden, the Netherlands, 17-19 March 2017.</strong>
|
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Neuromusc. Disord. 28: 702-710, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30055862/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30055862</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30055862" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.nmd.2018.05.007" target="_blank">Full Text</a>]
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<li>
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<a id="17" class="mim-anchor"></a>
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<a id="Yamaoka1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yamaoka, L. H., Westbrook, C. A., Speer, M. C., Gilchrist, J. M., Jabs, E. W., Schweins, E. G., Stajich, J. M., Gaskell, P. C., Roses, A. D., Pericak-Vance, M. A.
|
|
<strong>Development of a microsatellite genetic map spanning 5q31-q33 and subsequent placement of the LGMD1A locus between D5S178 and IL9.</strong>
|
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Neuromusc. Disord. 4: 471-475, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7881291/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7881291</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7881291" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0960-8966(94)90086-8" target="_blank">Full Text</a>]
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</ol>
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<div>
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<br />
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</div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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Contributors:
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</span>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 03/23/2023
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</span>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin : 2/10/2005
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<a id="editHistory" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 03/23/2023
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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ckniffin : 03/22/2023<br>carol : 09/26/2018<br>carol : 09/25/2018<br>carol : 07/21/2016<br>carol : 09/22/2015<br>carol : 8/7/2013<br>terry : 6/3/2011<br>terry : 6/3/2011<br>terry : 6/3/2011<br>terry : 7/30/2008<br>ckniffin : 8/9/2005<br>tkritzer : 3/10/2005<br>ckniffin : 3/2/2005
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<div class="container visible-print-block">
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<h3>
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<span class="mim-font">
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<strong>#</strong> 609200
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</span>
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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MYOPATHY, MYOFIBRILLAR, 3; MFM3
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</span>
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</h3>
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</div>
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<div>
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<div>
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<h4>
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<span class="mim-font">
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MYOTILINOPATHY<br />
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MYOPATHY, MYOFIBRILLAR, MYOTILIN-RELATED<br />
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MYOPATHY, SPHEROID BODY<br />
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MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1, FORMERLY; LGMD1, FORMERLY<br />
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MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A, FORMERLY; LGMD1A, FORMERLY
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</span>
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</h4>
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</div>
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<strong>ORPHA:</strong> 266, 98911;
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<strong>DO:</strong> 0080094;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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5q31.2
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</span>
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</td>
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<td>
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<span class="mim-font">
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Myopathy, myofibrillar, 3
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</span>
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</td>
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<td>
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<span class="mim-font">
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609200
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<td>
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<span class="mim-font">
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MYOT
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</span>
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</td>
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<td>
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<span class="mim-font">
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604103
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because myofibrillar myopathy-3 (MFM3) is caused by heterozygous mutation in the TTID gene (MYOT; 604103) on chromosome 5q31.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Myofibrillar myopathy refers to a genetically heterogeneous group of muscular disorders characterized by a pathologic morphologic pattern of myofibrillar degradation and abnormal accumulation of proteins involved with the sarcomeric Z disc (summary by Foroud et al., 2005). </p><p>For a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419).</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>Nomenclature</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
|
<p>Some cases of myofibrillar myopathy-3 were previously classified as a form of limb-girdle muscular dystrophy (type 1A; LGMD1A). Straub et al. (2018), on behalf of the LGMD workshop study group, reclassified LGMD1A as a form of myofibrillar myopathy. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Clinical Features</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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|
<p>Goebel et al. (1978) described a family from Indiana in which 15 members spanning 4 generations had a slowly progressive autosomal dominant myopathy. The disorder began in adolescence and proceeded to some motor incapacitation, but life span was not shortened. Muscle weakness was predominantly proximal, but some patients also had distal weakness. Skeletal muscle biopsy showed an accumulation of myofilamentous material within individual muscle fibers, which the authors termed 'spheroid bodies.' Most of the spheroid bodies were present in type 1 fibers and were devoid of enzyme activity. They were more common in the periphery of muscle fibers and were present as singles, multiples, and aggregates. Other skeletal muscle biopsy features included centralized nuclei, variation in fiber size, and occasional necrosis. Electron microscopy showed that the spheroid bodies were composed of fine filaments resembling a ball of twine; streaming of the Z disc was also observed. The pathologic changes were much more pronounced in biopsies from older patients compared to those from younger patients. Based on these distinct morphologic features, the authors suggested the term 'spheroid body myopathy,' and proposed a primary disturbance of contractile myofibrillar material. Goebel et al. (1997) provided follow-up on the family reported by Goebel et al. (1978) and described a distantly related family from Oregon. Clinically, affected individuals from the Oregon family had a milder disease compared to those from the Indiana family. The Oregon family had onset in the third or fourth decade of life and usually had only mild muscle weakness. EMG findings were consistent with a myopathic disease process. However, skeletal muscle findings of spheroid bodies in the 2 families were strikingly similar. The spheroid bodies contained increased amounts of desmin (DES; 125660), alpha-beta crystallin (CRYAB; 123590), and ubiquitin (UBB; 191339), suggestive of a desminopathy. In 21 affected members of the kindred reported by Goebel et al. (1978, 1997), Foroud et al. (2005) identified a mutation in the TTID gene (S39F; 604103.0006). </p><p>Gilchrist et al. (1988) reported a large family from southeastern West Virginia diagnosed with autosomal dominant limb-girdle muscular dystrophy. Sixteen members had onset in their early to mid-twenties of proximal leg weakness which progressed to inhibit ambulation and to involve their proximal upper extremities. The patients had elevated CK levels and myopathic EMG and biopsy findings. No conclusive linkage was demonstrated. Gilchrist et al. (1988) reported that the same pedigree had been enlarged to include 51 affected members over 7 generations. Other manifestations included absent ankle jerks, heel-cord contractures, and dysarthria. Penetrance was incomplete and age-dependent, as there were several obligate carriers who were clinically unaffected. Gilchrist et al. (1988) also reported a second family with 4 affected members in 2 generations. </p><p>In the large family with LGMD1A first reported by Gilchrist et al. (1988), Speer et al. (1998) studied 25 parent-offspring pairs in which the parents were 3 (3R), 4 (4R), or 5 (5R) generations removed from a common founding ancestor. A life table showed significant decreases in age at first reported symptoms in the offspring of the 3R and 4R parents, suggesting anticipation. Pairwise analysis confirmed this decrease, with a median decrease of 13 years in transmission to offspring from 3R parents and 18 years in transmission to offspring from 4R parents. Speer et al. (1998) concluded that LGMD1A may result from the expansion of an unstable trinucleotide repeat. In the large family that was first diagnosed with LGMD1A by Gilchrist et al. (1988), Hauser et al. (2000) identified a mutation in the myotilin gene (T57I; 604103.0001) that segregated with the disease. </p><p>Hauser et al. (2002) noted that some individuals with LGMD1A exhibit a distinctive nasal, dysarthric pattern of speech. </p><p>Reilich et al. (2011) reported a Turkish woman with a rapidly progressive disease course of LGMD1A. She developed progressive proximal weakness of the lower limbs at age 40 years followed by proximal upper limb weakness, and subsequently developed mild distal muscle weakness. She was wheelchair-dependent at age 50. Within the next 3 years, she developed respiratory insufficiency and dysphagia, resulting in death from pneumonia at age 55. Muscle imaging showed fatty degeneration of most proximal muscles in both the upper and lower limbs, as well as in the thoracic and abdominal cavities. Muscle biopsy at age 40 showed a mild myopathic pattern with increased fiber size variability, some central nuclei, some autophagocytic vacuoles, and mild fibrosis; there were no signs of a myofibrillar myopathy. The patient's mother and 1 sister were reportedly less severely affected. </p><p>Selcen and Engel (2004) reported 6 unrelated patients with myofibrillar myopathy caused by mutation in the myotilin gene. Age at symptom onset ranged from 50 to 77 years (mean, 59.8 years). One patient had a brother with distal leg weakness and another patient had an affected brother and an affected son, suggesting autosomal dominant inheritance. The main features included progressive distal muscle weakness and peripheral neuropathy with hyporeflexia. One patient had generalized muscle weakness and 1 reported more severe proximal muscle weakness. Three of 6 patients had elevated creatine kinase and 3 had cardiomyopathy. EMG studies showed myopathic and neurogenic changes. Muscle biopsies from all patients showed abnormal muscle fibers with amorphous, granular, or hyaline deposits that were dark blue or blue red in color. Some hyaline structures were intensely congophilic, indicating beta-pleated amyloid (104760) sheets. Abnormal fibers stained strongly for myotilin, alpha-B crystallin (123590), dystrophin (300377), and desmin (125660), among other proteins. Electron microscopy of 2 patients showed streaks of dense material emanating from Z discs. Hyaline structures consisted of compacted fragmented filaments of variable electron density. Some muscle fibers contained membrane-bound vacuoles with degraded material. Selcen and Engel (2004) concluded that in all forms of myofibrillar myopathy, the Z disc is the earliest site of pathologic change, followed by disorganization of the fiber architecture, accumulation of degraded filamentous material in larger aggregates, and accumulation and degradation of dislocated membranous material in autophagic vacuoles. </p>
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</span>
|
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<div>
|
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>In the large family in which 51 individuals were first diagnosed with limb-girdle muscular dystrophy by Gilchrist et al. (1988), Speer et al. (1992) found linkage to CA(n) microsatellite repeat markers on chromosome 5 and localized the LGMD1A locus to 5q22.3-q31.3. They excluded linkage to 15q. </p><p>From information on the same large family studied by Speer et al. (1992), Yamaoka et al. (1994) developed a microsatellite genetic map in 5q31-q33 and used this to refine the localization further. Using multipoint analysis, they localized LGMD1A to a 7-cM region between markers IL9 and D5S178. Again using the same large family, Bartoloni et al. (1998) further narrowed the location of the LGMD1A gene to an interval bounded by D5S479 and D5S594, estimated to be 2 Mb in size. They used a high-resolution physical map of the region to identify and provisionally localize 25 polymorphic markers. Using a CEPH meiotic breakpoint panel, they then ordered a subset of these markers genetically and constructed an integrated physical-genetic map of the region. </p>
|
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</span>
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<div>
|
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<br />
|
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Diagnosis</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Falk et al. (1998) proposed the methods of artificial neural-network analysis to determine disease status in conditions such as LGMD1A where there is confusion because of variability in diagnostic criteria, age at onset, and differential presentation of disease. The method entails 'training' an artificial neural network with input facts (based on diagnostic criteria) and related results (based on disease diagnosis). The network contains weight factors connecting input 'neurons' to output 'neurons,' and these connections are adjusted until the network can reliably produce the appropriate outputs for the given input facts. The trained network can be 'tested' with a second set of facts. Falk et al. (1998) applied the method to members of the large pedigree with LGMD1A originally reported by Gilchrist et al. (1988). They used diagnostic criteria and disease status to train a neural network to classify individuals as 'affected' or 'not affected.' The trained network reproduced the disease diagnosis of all individuals of known phenotype with 98% reliability. </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 the large family that was first diagnosed with LGMD1A by Gilchrist et al. (1988), Hauser et al. (2000) identified a heterozygous mutation in the myotilin gene (T57I; 604103.0001) that segregated with the disease. </p><p>Of 42 families diagnosed with autosomal dominant LGMD, Hauser et al. (2002) identified an Argentinian family with a mutation in the myotilin gene (S55F; 604103.0002) that segregated with the disease. </p><p>In 21 affected members of a large kindred with 'spheroid body myopathy' reported by Goebel et al. (1978, 1997), Foroud et al. (2005) identified a heterozygous mutation in the TTID gene (S39F; 604103.0006), consistent with a myofibrillar myopathy. </p><p>In a Turkish woman diagnosed with LGMD1A, Reilich et al. (2011) identified a heterozygous mutation in the MYOT gene (R6H; 604103.0007). </p><p>In 6 of 57 unrelated patients with myofibrillar myopathy, Selcen and Engel (2004) identified 4 heterozygous mutations in the myotilin gene (604103.0002-604103.0005). They termed the disorder 'myotilinopathy' to distinguish it from other forms of myofibrillar myopathy. Selcen and Engel (2004) noted that patients diagnosed with LGMD1A who have mutations in the myotilin gene develop distal muscle weakness and hyporeflexia later in the disease. </p>
|
|
</span>
|
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<div>
|
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<br />
|
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</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Henson et al. (1967); Heyck and Laudahn (1969)
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bartoloni, L., Horrigan, S. K., Viles, K. D., Gilchrist, J. M., Stajich, J. M., Vance, J. M., Yamaoka, L. H., Pericak-Vance, M. A., Westbrook, C. A., Speer, M. C.
|
|
<strong>Use of a CEPH meiotic breakpoint panel to refine the locus of limb-girdle muscular dystrophy type 1A (LGMD1A) to a 2-Mb interval on 5q31.</strong>
|
|
Genomics 54: 250-255, 1998.
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[PubMed: 9828127]
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[Full Text: https://doi.org/10.1006/geno.1998.5579]
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</p>
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</li>
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<li>
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|
<p class="mim-text-font">
|
|
Falk, C. T., Gilchrist, J. M., Pericak-Vance, M. A., Speer, M. C.
|
|
<strong>Using neural networks as an aid in the determination of disease status: comparison of clinical diagnosis to neural-network predictions in a pedigree with autosomal dominant limb-girdle muscular dystrophy.</strong>
|
|
Am. J. Hum. Genet. 62: 941-949, 1998.
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[PubMed: 9529338]
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[Full Text: https://doi.org/10.1086/301780]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Foroud, T., Pankratz, N., Batchman, A. P., Pauciulo, M. W., Vidal, R., Miravalle, L., Goebel, H. H., Cushman, L. J., Azzarelli, B., Horak, H., Farlow, M., Nichols, W. C.
|
|
<strong>A mutation in myotilin causes spheroid body myopathy.</strong>
|
|
Neurology 65: 1936-1940, 2005.
|
|
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|
|
[PubMed: 16380616]
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[Full Text: https://doi.org/10.1212/01.wnl.0000188872.28149.9a]
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</p>
|
|
</li>
|
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|
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<li>
|
|
<p class="mim-text-font">
|
|
Gilchrist, J. M., Pericak-Vance, M., Silverman, L., Roses, A. D.
|
|
<strong>Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy.</strong>
|
|
Neurology 38: 5-9, 1988.
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[PubMed: 3275904]
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[Full Text: https://doi.org/10.1212/wnl.38.1.5]
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</p>
|
|
</li>
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|
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<li>
|
|
<p class="mim-text-font">
|
|
Gilchrist, J., Speer, M., Gaskell, P., Pericak-Vance, M., Silverman, L., Roses, A.
|
|
<strong>Autosomal dominant limb-girdle muscular dystrophy. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 43: A51 only, 1988.
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Goebel, H. H., D'Agostino, A. N., Wilson, J., Cole, G., Foroud, T., Koller, D., Farlow, M., Azzarelli, B., Muller, J.
|
|
<strong>Spheroid body myopathy revisited.</strong>
|
|
Muscle Nerve 20: 1127-1136, 1997.
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|
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|
|
[PubMed: 9270668]
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[Full Text: https://doi.org/10.1002/(sici)1097-4598(199709)20:9<1127::aid-mus6>3.0.co;2-a]
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</p>
|
|
</li>
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Goebel, H. H., Muller, J., Gillen, H. W., Merritt, A. D.
|
|
<strong>Autosomal dominant 'spheroid body myopathy'.</strong>
|
|
Muscle Nerve 1: 14-26, 1978.
|
|
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|
|
[PubMed: 571956]
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|
|
[Full Text: https://doi.org/10.1002/mus.880010104]
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hauser, M. A., Conde, C. B., Kowaljow, V., Zeppa, G., Taratuto, A. L., Torian, U. M., Vance, J., Pericak-Vance, M. A., Speer, M. C., Rosa, A. L.
|
|
<strong>Myotilin mutation found in second pedigree with LGMD1A.</strong>
|
|
Am. J. Hum. Genet. 71: 1428-1432, 2002.
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|
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|
|
[PubMed: 12428213]
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|
|
[Full Text: https://doi.org/10.1086/344532]
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hauser, M. A., Horrigan, S. K., Salmikangas, P., Torian, U. M., Viles, K. D., Dancel, R., Tim, R. W., Taivainen, A., Bartoloni, L., Gilchrist, J. M., Stajich, J. M., Gaskell, P. C., Gilbert, J. R., Vance, J. M., Pericak-Vance, M. A., Carpen, O., Westbrook, C. A., Speer, M. C.
|
|
<strong>Myotilin is mutated in limb girdle muscular dystrophy 1A.</strong>
|
|
Hum. Molec. Genet. 9: 2141-2147, 2000.
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|
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|
|
[PubMed: 10958653]
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|
|
[Full Text: https://doi.org/10.1093/hmg/9.14.2141]
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Henson, T. E., Muller, J., DeMyer, W. E.
|
|
<strong>Hereditary myopathy limited to females.</strong>
|
|
Arch. Neurol. 17: 238-247, 1967.
|
|
|
|
|
|
[PubMed: 6053567]
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|
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|
|
[Full Text: https://doi.org/10.1001/archneur.1967.00470270016003]
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|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Heyck, H., Laudahn, G.
|
|
<strong>Die progressiv-dystrophischen Myopathien.</strong>
|
|
Berlin: Springer (pub.) 1969. Pp. 54-60.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Reilich, P., Krause, S., Schramm, N., Klutzny, U., Bulst, S., Zehetmayer, B., Schneiderat, P., Walter, M. C., Schoser, B., Lochmuller, H.
|
|
<strong>A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A).</strong>
|
|
J. Neurol. 258: 1437-1444, 2011.
|
|
|
|
|
|
[PubMed: 21336781]
|
|
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|
|
[Full Text: https://doi.org/10.1007/s00415-011-5953-9]
|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Selcen, D., Engel, A. G.
|
|
<strong>Mutations in myotilin cause myofibrillar myopathy.</strong>
|
|
Neurology 62: 1363-1371, 2004. Note: Erratum: Neurology 63: 405 only, 2004.
|
|
|
|
|
|
[PubMed: 15111675]
|
|
|
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|
|
[Full Text: https://doi.org/10.1212/01.wnl.0000123576.74801.75]
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Speer, M. C., Gilchrist, J. M., Stajich, J. M., Gaskell, P. C., Westbrook, C. A., Horrigan, S. K., Bartoloni, L., Yamaoka, L. H., Scott, W. K., Pericak-Vance, M. A.
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<strong>Evidence for anticipation in autosomal dominant limb-girdle muscular dystrophy.</strong>
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J. Med. Genet. 35: 305-308, 1998.
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[PubMed: 9598725]
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[Full Text: https://doi.org/10.1136/jmg.35.4.305]
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Speer, M. C., Yamaoka, L. H., Gilchrist, J. H., Gaskell, C. P., Stajich, J. M., Vance, J. M., Kazantsev, A., Lastra, A. A., Haynes, C. S., Beckmann, J. S., Cohen, D., Weber, J. L., Roses, A. D., Pericak-Vance, M. A.
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<strong>Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form to chromosome 5q.</strong>
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Am. J. Hum. Genet. 50: 1211-1217, 1992.
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[PubMed: 1598902]
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Straub, V., Murphy, A., Udd, B.
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<strong>229th ENMC international workshop: limb girdle muscular dystrophies--nomenclature and reformed classification, Naarden, the Netherlands, 17-19 March 2017.</strong>
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Neuromusc. Disord. 28: 702-710, 2018.
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[PubMed: 30055862]
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[Full Text: https://doi.org/10.1016/j.nmd.2018.05.007]
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Yamaoka, L. H., Westbrook, C. A., Speer, M. C., Gilchrist, J. M., Jabs, E. W., Schweins, E. G., Stajich, J. M., Gaskell, P. C., Roses, A. D., Pericak-Vance, M. A.
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<strong>Development of a microsatellite genetic map spanning 5q31-q33 and subsequent placement of the LGMD1A locus between D5S178 and IL9.</strong>
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Neuromusc. Disord. 4: 471-475, 1994.
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[PubMed: 7881291]
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[Full Text: https://doi.org/10.1016/0960-8966(94)90086-8]
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Cassandra L. Kniffin - updated : 03/23/2023
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