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<title>
Entry
- #254110 - MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8; LGMDR8
- OMIM
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<span class="h4">#254110</span>
<br />
<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/254110"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS253600"> <strong>Phenotypic Series</strong> </a>
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<a href="#mapping">Mapping</a>
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<a href="#cytogenetics">Cytogenetics</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<div><a href="https://clinicaltrials.gov/search?cond=MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0110282" 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>
<div><a href="http://www.informatics.jax.org/disease/254110" 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>
</div>
</div>
</div>
</div>
</div>
</div>
<span>
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
&nbsp;
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 240064008, 43226001<br />
<strong>ORPHA:</strong> 1878<br />
<strong>DO:</strong> 0110282<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
254110
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8; LGMDR8
</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">
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H; LGMD2H<br />
MUSCULAR DYSTROPHY, HUTTERITE TYPE<br />
SARCOTUBULAR MYOPATHY
</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/9/453?start=-3&limit=10&highlight=453">
9q33.1
</a>
</span>
</td>
<td>
<span class="mim-font">
Muscular dystrophy, limb-girdle, autosomal recessive 8
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/254110"> 254110 </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">
TRIM32
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602290"> 602290 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/254110" class="btn btn-warning" role="button"> Clinical Synopsis </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="sr-only">Toggle Dropdown</span>
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&nbsp;
<div class="btn-group">
<a href="/phenotypicSeries/PS253600" 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')">
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&nbsp;
<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/254110" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/254110" 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 recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Face </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Facial muscle weakness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95666008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95666008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R29.810" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R29.810</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.83" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.83</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/781.94" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">781.94</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0427055&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0427055</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007209" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007209</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0030319" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030319</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030319" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030319</a>]</span><br /> -
'Flat smile' <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850828&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850828</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Neck </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Neck flexor muscle weakness <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843637&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843637</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003722" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003722</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003722" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003722</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">
- Waddling gait <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271706000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271706000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0231712&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0231712</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002515" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002515</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002515" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002515</a>]</span><br /> -
Pelvic girdle muscle weakness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249941003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249941003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0427064&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0427064</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003749" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003749</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003749" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003749</a>]</span><br /> -
Pelvic girdle muscle atrophy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240679&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240679</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008988" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008988</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008988" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008988</a>]</span><br /> -
Quadriceps muscle weakness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/300948004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">300948004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0577655&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0577655</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003731" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003731</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003731" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003731</a>]</span><br /> -
Shoulder girdle muscle weakness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249940002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249940002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0427063&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0427063</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003547" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003547</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003547" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003547</a>]</span><br /> -
Shoulder girdle muscle atrophy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1847766&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1847766</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003724" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003724</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003724" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003724</a>]</span><br /> -
'Winged' scapulae <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/17211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">17211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240953&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240953</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003691" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003691</a>]</span><br /> -
Positive Gowers sign <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298294005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298294005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0575071&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0575071</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003391" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003391</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003391" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003391</a>]</span><br /> -
Exercise-induced weakness <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850829&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850829</a>]</span><br /> -
Exercise-induced muscle pain <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850830&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850830</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003738" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003738</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003738" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003738</a>]</span><br /> -
Pectoralis muscles may be less involved, leading to inward shrugging posture <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850831&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850831</a>]</span><br /> -
Calf muscle pseudohypertrophy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839666&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839666</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003707" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003707</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003707" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003707</a>]</span><br /> -
Facial muscle weakness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95666008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95666008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R29.810" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R29.810</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.83" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.83</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/781.94" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">781.94</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0427055&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0427055</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007209" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007209</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0030319" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030319</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030319" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030319</a>]</span><br /> -
Myopathic changes seen on EMG <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3276190&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3276190</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/129565002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">129565002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G72.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G72.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M62.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M62.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M60-M63" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M60-M63</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/359.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">359.9</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003198" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003198</a>]</span><br /> -
Increased echo intensity in affected muscles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850832&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850832</a>]</span><br /> -
Dystrophic changes seen on muscle biopsy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3279200&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3279200</a>]</span><br /> -
Centralized nuclei <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842170&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842170</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003687" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003687</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003687" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003687</a>]</span><br /> -
Increased fiber size variation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843700&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843700</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003557" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003557</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003557" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003557</a>]</span><br /> -
Atrophic fibers <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850834&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850834</a>]</span><br /> -
Small, membrane-bound vacuoles predominantly in type 2 fibers <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5232443&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5232443</a>]</span><br /> -
Vacuole membranes show ATPase reactivity consistent with origin from the sarcoplasmic reticulum <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850836&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850836</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">
- Hyporeflexia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/835279003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">835279003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405946002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405946002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0700078&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700078</a>, <a href="https://bioportal.bioontology.org/search?q=C0151888&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151888</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001265" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001265</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001315" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001315</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001265" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001265</a>]</span><br /> -
Areflexia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/37280007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">37280007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234146&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234146</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001284" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001284</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001284" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001284</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> LABORATORY ABNORMALITIES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- 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 />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Highly variable phenotype and severity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850667&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850667</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span><br /> -
Onset usually in childhood (1 to 9 years of age)<br /> -
Slowly progressive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854494&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854494</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003677</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003677</a>]</span><br /> -
High frequency in Hutterite population<br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Caused by mutation in the tripartite motif-containing protein 32 gene (TRIM32, <a href="/entry/602290#0001">602290.0001</a>)<br />
</span>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Muscular dystrophy, limb-girdle, autosomal recessive
- <a href="/phenotypicSeries/PS253600">PS253600</a>
- 31 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/565?start=-3&limit=10&highlight=565"> 1p34.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613157"> Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 </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/613157"> 613157 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606822"> POMGNT1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606822"> 606822 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1466?start=-3&limit=10&highlight=1466"> 1q25.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617072"> ?Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures </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/617072"> 617072 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614512"> TOR1AIP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614512"> 614512 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/351?start=-3&limit=10&highlight=351"> 2p13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/253601"> Muscular dystrophy, limb-girdle, autosomal recessive 2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/253601"> 253601 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603009"> DYSF </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603009"> 603009 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/625?start=-3&limit=10&highlight=625"> 2q14.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616827"> ?Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue </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/616827"> 616827 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607908"> LIMS2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607908"> 607908 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/823?start=-3&limit=10&highlight=823"> 2q31.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608807"> Muscular dystrophy, limb-girdle, autosomal recessive 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/608807"> 608807 </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/3/214?start=-3&limit=10&highlight=214"> 3p22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618135"> Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 </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/618135"> 618135 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614828"> POMGNT2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614828"> 614828 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/313?start=-3&limit=10&highlight=313"> 3p21.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613818"> Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 </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/613818"> 613818 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/128239"> DAG1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/128239"> 128239 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/319?start=-3&limit=10&highlight=319"> 3p21.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615352"> Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615352"> 615352 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615320"> GMPPB </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615320"> 615320 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/572?start=-3&limit=10&highlight=572"> 3q13.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617232"> Muscular dystrophy, limb-girdle, autosomal recessive 21 </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/617232"> 617232 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615618"> POGLUT1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615618"> 615618 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/214?start=-3&limit=10&highlight=214"> 4q12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604286"> Muscular dystrophy, limb-girdle, autosomal recessive 4 </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/604286"> 604286 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600900"> SGCB </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600900"> 600900 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/705?start=-3&limit=10&highlight=705"> 4q35.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615356"> Muscular dystrophy, limb-girdle, autosomal recessive 18 </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/615356"> 615356 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614138"> TRAPPC11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614138"> 614138 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/259?start=-3&limit=10&highlight=259"> 5q13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620375"> Muscular dystrophy, limb-girdle, autosomal recessive 28 </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/620375"> 620375 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/142910"> HMGCR </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/142910"> 142910 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/704?start=-3&limit=10&highlight=704"> 5q33.2-q33.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601287"> Muscular dystrophy, limb-girdle, autosomal recessive 6 </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/601287"> 601287 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601411"> SGCD </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601411"> 601411 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/743?start=-3&limit=10&highlight=743"> 6q21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616812"> Muscular dystrophy, limb-girdle, autosomal recessive 25 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616812"> 616812 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604577"> BVES </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604577"> 604577 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/744?start=-3&limit=10&highlight=744"> 6q21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618848"> Muscular dystrophy, limb-girdle, autosomal recessive 26 </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/618848"> 618848 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605824"> POPDC3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605824"> 605824 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/842?start=-3&limit=10&highlight=842"> 6q22.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618138"> Muscular dystrophy, limb-girdle, autosomal recessive 23 </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/618138"> 618138 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/156225"> LAMA2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/156225"> 156225 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/83?start=-3&limit=10&highlight=83"> 7p21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616052"> Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 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/616052"> 616052 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614631"> CRPPA </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614631"> 614631 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/621?start=-3&limit=10&highlight=621"> 8q24.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613723"> Muscular dystrophy, limb-girdle, autosomal recessive 17 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613723"> 613723 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601282"> PLEC1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601282"> 601282 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/389?start=-3&limit=10&highlight=389"> 9q31.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611588"> Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 </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/611588"> 611588 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607440"> FKTN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607440"> 607440 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/453?start=-3&limit=10&highlight=453"> 9q33.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/254110"> Muscular dystrophy, limb-girdle, autosomal recessive 8 </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/254110"> 254110 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602290"> TRIM32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602290"> 602290 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/589?start=-3&limit=10&highlight=589"> 9q34.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609308"> Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 </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/609308"> 609308 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607423"> POMT1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607423"> 607423 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/243?start=-3&limit=10&highlight=243"> 11p14.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611307"> Muscular dystrophy, limb-girdle, autosomal recessive 12 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611307"> 611307 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608662"> ANO5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608662"> 608662 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/13/30?start=-3&limit=10&highlight=30"> 13q12.12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/253700"> Muscular dystrophy, limb-girdle, autosomal recessive 5 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/253700"> 253700 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608896"> SGCG </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608896"> 608896 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/414?start=-3&limit=10&highlight=414"> 14q24.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613158"> Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613158"> 613158 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607439"> POMT2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607439"> 607439 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/600?start=-3&limit=10&highlight=600"> 14q32.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619566"> Muscular dystrophy, limb-girdle, autosomal recessive 27 </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/619566"> 619566 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602570"> JAG2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602570"> 602570 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/133?start=-3&limit=10&highlight=133"> 15q15.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/253600"> Muscular dystrophy, limb-girdle, autosomal recessive 1 </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/253600"> 253600 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114240"> CAPN3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114240"> 114240 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/400?start=-3&limit=10&highlight=400"> 15q24.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620793"> Muscular dystrophy, limb-girdle, autosomal recessive 29 </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/620793"> 620793 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607902"> SNUPN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607902"> 607902 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/488?start=-3&limit=10&highlight=488"> 17q12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601954"> Muscular dystrophy, limb-girdle, autosomal recessive 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/601954"> 601954 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604488"> TCAP </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604488"> 604488 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/733?start=-3&limit=10&highlight=733"> 17q21.33 </a>
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<a href="/entry/608099"> Muscular dystrophy, limb-girdle, autosomal recessive 3 </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<a href="/entry/608099"> 608099 </a>
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<a href="/entry/600119"> SGCA </a>
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<a href="/entry/600119"> 600119 </a>
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<a href="/geneMap/19/859?start=-3&limit=10&highlight=859"> 19q13.32 </a>
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<a href="/entry/607155"> Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<a href="/entry/607155"> 607155 </a>
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<a href="/entry/606596"> FKRP </a>
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<a href="/entry/606596"> 606596 </a>
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<a href="/geneMap/21/174?start=-3&limit=10&highlight=174"> 21q22.3 </a>
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<a href="/entry/254090"> Ullrich congenital muscular dystrophy 1A </a>
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<a href="/entry/254090"> 254090 </a>
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<a href="/entry/120220"> COL6A1 </a>
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<span class="mim-font">
<a href="/entry/120220"> 120220 </a>
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<p>A number sign (#) is used with this entry because of evidence that autosomal recessive limb-girdle muscular dystrophy-8 (LGMDR8) is caused by homozygous mutation in the gene encoding tripartite motif-containing protein-32 (TRIM32; <a href="/entry/602290">602290</a>) on chromosome 9q33.</p><p>For a discussion of genetic heterogeneity of autosomal recessive LGMD, see LGMDR1 (<a href="/entry/253600">253600</a>).</p>
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<p>At the 229th ENMC international workshop, <a href="#16" class="mim-tip-reference" title="Straub, V., Murphy, A., Udd, B. &lt;strong&gt;229th ENMC international workshop: limb girdle muscular dystrophies--nomenclature and reformed classification, Naarden, the Netherlands, 17-19 March 2017.&lt;/strong&gt; Neuromusc. Disord. 28: 702-710, 2018.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/30055862/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;30055862&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.nmd.2018.05.007&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="30055862">Straub et al. (2018)</a> reviewed, reclassified, and/or renamed forms of LGMD. The proposed naming formula was 'LGMD, inheritance (R or D), order of discovery (number), affected protein.' Under this formula, LGMD2H was renamed LGMDR8. <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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<p><a href="#6" class="mim-tip-reference" title="Jerusalem, F., Engel, A. G., Gomez, M. R. &lt;strong&gt;Sarcotubular myopathy.&lt;/strong&gt; Neurology 23: 897-906, 1973.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4269389/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4269389&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.23.9.897&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4269389">Jerusalem et al. (1973)</a> reported 2 brothers from an inbred Hutterite colony with a disorder they termed 'sarcotubular myopathy.' Nonprogressive muscular weakness was present from infancy. Muscle biopsy showed selective involvement of type II fibers with changes that were vacuolar in transverse section and segmental on longitudinal section. The spaces were membrane-bound on electron microscopy. Cytochemical markers indicated that the delimiting membranes were reactive for the sarcoplasmic reticulum-associated ATPase. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4269389" 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 geographically isolated Hutterite population in Manitoba, <a href="#14" class="mim-tip-reference" title="Shokeir, M. H. K., Kobrinsky, N. L. &lt;strong&gt;Autosomal recessive muscular dystrophy in Manitoba Hutterites.&lt;/strong&gt; Clin. Genet. 9: 197-202, 1976.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1248180/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1248180&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1976.tb01568.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1248180">Shokeir and Kobrinsky (1976)</a> described a slowly progressive proximal muscular dystrophy with facial features. Eleven persons were known to be affected. In 1 case an affected male had 9 unaffected children, and another affected male had 8 unaffected children. Onset was between 1 and 9 years of age, in the quadriceps and pelvic girdle musculature. Patients show a waddling gait and difficulty rising from the squatting position as well as a 'flat smile.' EMG and muscle biopsy showed a muscular dystrophy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1248180" 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="#18" class="mim-tip-reference" title="Weiler, T., Greenberg, C. R., Zelinski, T., Nylen, E., Coghlan, G., Crumley, M. J., Fujiwara, T. M., Morgan, K., Wrogemann, K. &lt;strong&gt;A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus.&lt;/strong&gt; Am. J. Hum. Genet. 63: 140-147, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9634523/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9634523&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/301925&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9634523">Weiler et al. (1998)</a> considered individuals affected if they showed signs and symptoms of proximal muscle weakness and had creatine kinase (CK) levels more than 4 times the upper limit of normal. Other features included signs and symptoms of proximal muscle weakness, and electromyogram or muscle biopsy consistent with a myopathic disorder. Asymptomatic patients with extremely elevated CK levels (more than 15 times the upper limit of normal) were also considered affected. Eighteen (11 males and 7 females) of 40 studied individuals in 4 related nuclear Hutterite families were classified as LGMD patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9634523" 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="Muller-Felber, W., Schlotter, B., Topfer, M., Ketelsen, U.-P., Muller-Hocker, J., Pongratz, D. &lt;strong&gt;Phenotypic variability in two brothers with sarcotubular myopathy. (Letter)&lt;/strong&gt; J. Neurol. 246: 408-411, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10399877/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10399877&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s004150050374&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10399877">Muller-Felber et al. (1999)</a> reported 2 German brothers with sarcotubular myopathy who had very different clinical courses. The older patient developed exercise-induced muscle weakness and pain at age 6 years. He had slow progression and was wheelchair-bound by his late twenties. He also had scapular winging, moderate hypertrophy of the calves, absent deep tendon reflexes, and increased serum creatine kinase. Skeletal muscle biopsy showed rounded muscle fibers with centralized nuclei and small membrane-bound vacuoles. The younger brother developed exercise-induced myalgia at age 32 years with little progression and disability. Skeletal muscle biopsy was similar to his brother's. The parents were unaffected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10399877" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Frosk, P., Greenberg, C. R., Tennese, A. A. P., Lamont, R., Nylen, E., Hirst, C., Frappier, D., Roslin, N. M., Zaik, M., Bushby, K., Straub, V., Zatz, M., de Paula, F., Morgan, K., Fujiwara, T. M., Wrogemann, K. &lt;strong&gt;The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations.&lt;/strong&gt; Hum. Mutat. 25: 38-44, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15580560/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15580560&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.20110&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15580560">Frosk et al. (2005)</a> compared the clinical features of Hutterites with LGMD2H with those of Hutterites with LGMD2I (LGMDR9; <a href="/entry/607155">607155</a>) caused by an L276I mutation in the FKRP gene (<a href="/entry/606596#0004">606596.0004</a>). The FKRP L276I mutation also occurs in non-Hutterite patients with LGMD from Europe, Canada, and Brazil, and appears to be a founder mutation dispersed among populations of European origin. Hutterite LGMD2I patients had an earlier age at diagnosis, a more severe course, and higher serum creatine kinase than LGMD2H patients. In addition, some of the LGMD2I patients showed calf hypertrophy, cardiac symptoms, and severe reactions to general anesthesia; none of these features were present among LGMD2H patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15580560" 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="Saccone, V., Palmieri, M., Passamano, L., Piluso, G., Meroni, G., Politano, L., Nigro, V. &lt;strong&gt;Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H.&lt;/strong&gt; Hum. Mutat. 29: 240-247, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17994549/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17994549&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.20633&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17994549">Saccone et al. (2008)</a> reported 2 unrelated non-Hutterite European patients with LGMD2H. A 44-year-old Croatian woman had slowly progressive proximal muscle weakness and wasting, respiratory weakness, and chronic keratitis. EMG showed myopathic and neurogenic changes. An unrelated man with LGMD2H reported disease onset in the third decade with weakness and paresthesias. He had marked proximal weakness and atrophy as well as respiratory weakness, and lost the ability to walk at age 64 after prolonged immobility for other causes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17994549" 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="#10" class="mim-tip-reference" title="Neri, M., Selvatici, R., Scotton, C., Trabanelli, C., Armaroli, A., De Grandis, D., Levy, N., Gualandi, F., Ferlini, A. &lt;strong&gt;A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation.&lt;/strong&gt; Neuromusc. Disord. 23: 478-482, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/23541687/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;23541687&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.nmd.2013.02.003&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="23541687">Neri et al. (2013)</a> reported a 35-year-old Italian woman with LGMDR8 who presented with muscle weakness and muscle pain predominantly of the lower limbs. She had normal motor development but was unable to run as fast as her peers in childhood. She first experience progressive muscle weakness and difficulty climbing stairs at age 25 years. On examination she had marked hypotrophy and weakness of the pelvic girdle muscles, especially the glutei, but no evidence of calf hypertrophy. Her cardiac examination and EKG were normal. Her CK levels were 2 times normal and an electromyography of her biceps brachialis and tibialis muscles showed a myopathic pattern with decrease in duration of the action potential. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23541687" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Nectoux, J., de Cid, R., Baulande, S., Leturcq, F., Urtizberea, J. A., Penisson-Besnier, I., Nadaj-Pakleza, A., Roudaut, C., Criqui, A., Orhant, L., Peyroulan, D., Ben Yaou, R., and 11 others. &lt;strong&gt;Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing.&lt;/strong&gt; Europ. J. Hum. Genet. 23: 929-934, 2015.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/25351777/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;25351777&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=25351777[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ejhg.2014.223&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="25351777">Nectoux et al. (2015)</a> reported 2 patients with LGMDR8. The first patient experienced progressive muscle weakness, scapular winging, and a waddling gait beginning at age 30 years. When he was seen 10 years later, he had frequent falls, moderately elevated CK levels, and a myogenic pattern on electromyography. On muscle biopsy, a nonspecific myopathy pattern was seen. The second patient, who was first seen at age 41 years, described difficulties with jumping and rope climbing since the age of 10 years. Difficulties with climbing stairs began at age 30, and the patient became wheelchair bound by the age of 50. The patient had a pure atrophic presentation with the quadriceps muscles being the most affected. CK levels were normal and an electromyogram showed myogenic impairment. A muscle biopsy of the biceps brachialis muscle was compatible with a dystrophic process. An echocardiogram at age 50 showed moderate hypertrophy of both ventricular walls, without left ventricular dysfunction. The patient also developed mild progressive cognitive impairment. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25351777" 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="#17" class="mim-tip-reference" title="Weiler, T., Greenberg, C. R., Nylen, E., Morgan, K., Fujiwara, T. M., Crumley, M. J., Zelinski, T., Halliday, W., Nickel, B., Triggs-Raine, B., Wrogemann, K. &lt;strong&gt;Limb girdle muscular dystrophy in Manitoba Hutterites does not map to any of the known LGMD loci.&lt;/strong&gt; Am. J. Med. Genet. 72: 363-368, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9332671/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9332671&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1096-8628(19971031)72:3&lt;363::aid-ajmg22&gt;3.0.co;2-q&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9332671">Weiler et al. (1997)</a> found that autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites was not linked to any of the 7 known LGMD loci or to any of 3 other candidate genes. They studied 4 related sibships with a total of 21 patients with a mild form of autosomal recessive LGMD. <a href="#18" class="mim-tip-reference" title="Weiler, T., Greenberg, C. R., Zelinski, T., Nylen, E., Coghlan, G., Crumley, M. J., Fujiwara, T. M., Morgan, K., Wrogemann, K. &lt;strong&gt;A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus.&lt;/strong&gt; Am. J. Hum. Genet. 63: 140-147, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9634523/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9634523&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/301925&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9634523">Weiler et al. (1998)</a> used a genome scan of pooled DNA in the large Hutterite kindred to demonstrate linkage between limb-girdle muscular dystrophy of a mild autosomal recessive form and chromosomal region 9q31-q34.1. The FKTN gene (<a href="/entry/607440">607440</a>), which is responsible for Fukuyama congenital muscular dystrophy (FCMD), now designated muscular dystrophy-dystroglycanopathy type A4 (MDDGA4; <a href="/entry/253800">253800</a>), maps to this region, but haplotype analysis revealed 5 recombinations that placed the LGMD locus distal to the FCMD locus. On the basis of an inferred ancestral recombination, the gene, symbolized LGMD2H, may lie in a 300-kb region between D9S302 and D9S934. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9634523+9332671" 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="Frosk, P., Weiler, T., Nylen, E., Sudha, T., Greenberg, C. R., Morgan, K., Fujiwara, T. M., Wrogemann, K. &lt;strong&gt;Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene.&lt;/strong&gt; Am. J. Hum. Genet. 70: 663-672, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11822024/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11822024&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=11822024[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/339083&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11822024">Frosk et al. (2002)</a> narrowed the candidate LGMD2H region to 560 kb, flanked by D9S1126 and D9S737 and containing 4 genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11822024" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="cytogenetics" class="mim-anchor"></a>
<h4 href="#mimCytogeneticsFold" id="mimCytogeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Cytogenetics</strong>
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<p>Using an approach that combined screening of candidate genes with a CGH array and massively parallel sequencing, <a href="#9" class="mim-tip-reference" title="Nectoux, J., de Cid, R., Baulande, S., Leturcq, F., Urtizberea, J. A., Penisson-Besnier, I., Nadaj-Pakleza, A., Roudaut, C., Criqui, A., Orhant, L., Peyroulan, D., Ben Yaou, R., and 11 others. &lt;strong&gt;Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing.&lt;/strong&gt; Europ. J. Hum. Genet. 23: 929-934, 2015.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/25351777/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;25351777&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=25351777[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ejhg.2014.223&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="25351777">Nectoux et al. (2015)</a> identified 2 patients with LGMDR8 with homozygous or compound heterozygous mutations in the TRIM32 gene. In the first patient, one allele had a frameshift mutation (<a href="/entry/602290#0006">602290.0006</a>), confirmed by Sanger sequencing, and the other allele had a 124.4-kb deletion that included the entire TRIM32 gene. The second patient, born to nonconsanguineous parents, had a homozygous 336-kb deletion including the TRIM32 gene. The deletions in both patients, which were confirmed by quantitative PCR, included part of the ASTN2 gene (<a href="/entry/612856">612856</a>). Analysis of the breakpoints showed that the 5-prime boundaries of both deletions were located within regions enriched with genomic repeats, possibly making rearrangements and deletions more likely to occur. Parents were not available for study for either patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25351777" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="inheritance" class="mim-anchor"></a>
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<strong>Inheritance</strong>
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<p>The transmission pattern of LGMD2H in the families reported by <a href="#4" class="mim-tip-reference" title="Frosk, P., Weiler, T., Nylen, E., Sudha, T., Greenberg, C. R., Morgan, K., Fujiwara, T. M., Wrogemann, K. &lt;strong&gt;Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene.&lt;/strong&gt; Am. J. Hum. Genet. 70: 663-672, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11822024/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11822024&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=11822024[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/339083&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11822024">Frosk et al. (2002)</a> and <a href="#13" class="mim-tip-reference" title="Schoser, B. G. H., Frosk, P., Engel, A. G., Klutzny, U., Lochmuller, H., Wrogemann, K. &lt;strong&gt;Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H.&lt;/strong&gt; Ann. Neurol. 57: 591-595, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15786463/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15786463&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ana.20441&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15786463">Schoser et al. (2005)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11822024+15786463" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="molecularGenetics" class="mim-anchor"></a>
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<strong>Molecular Genetics</strong>
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<p>In Hutterite patients with LGMD2H, <a href="#4" class="mim-tip-reference" title="Frosk, P., Weiler, T., Nylen, E., Sudha, T., Greenberg, C. R., Morgan, K., Fujiwara, T. M., Wrogemann, K. &lt;strong&gt;Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene.&lt;/strong&gt; Am. J. Hum. Genet. 70: 663-672, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11822024/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11822024&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=11822024[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/339083&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11822024">Frosk et al. (2002)</a> identified a homozygous asp487-to-asn mutation in the TRIM32 gene (D487N; <a href="/entry/602290#0001">602290.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11822024" 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="Schoser, B. G. H., Frosk, P., Engel, A. G., Klutzny, U., Lochmuller, H., Wrogemann, K. &lt;strong&gt;Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H.&lt;/strong&gt; Ann. Neurol. 57: 591-595, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15786463/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15786463&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ana.20441&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15786463">Schoser et al. (2005)</a> identified the homozygous D487N mutation in the TRIM32 gene in the patients reported by <a href="#6" class="mim-tip-reference" title="Jerusalem, F., Engel, A. G., Gomez, M. R. &lt;strong&gt;Sarcotubular myopathy.&lt;/strong&gt; Neurology 23: 897-906, 1973.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4269389/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4269389&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.23.9.897&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4269389">Jerusalem et al. (1973)</a> and <a href="#8" class="mim-tip-reference" title="Muller-Felber, W., Schlotter, B., Topfer, M., Ketelsen, U.-P., Muller-Hocker, J., Pongratz, D. &lt;strong&gt;Phenotypic variability in two brothers with sarcotubular myopathy. (Letter)&lt;/strong&gt; J. Neurol. 246: 408-411, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10399877/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10399877&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s004150050374&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10399877">Muller-Felber et al. (1999)</a>, confirming that they had LGMD2H. In addition, haplotype analysis showed that all LGMD2H patients shared the same haplotype, suggesting that the mutation arose before the emergence of the Hutterite religion in central Europe in the 16th century. <a href="#13" class="mim-tip-reference" title="Schoser, B. G. H., Frosk, P., Engel, A. G., Klutzny, U., Lochmuller, H., Wrogemann, K. &lt;strong&gt;Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H.&lt;/strong&gt; Ann. Neurol. 57: 591-595, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15786463/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15786463&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ana.20441&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15786463">Schoser et al. (2005)</a> noted the phenotypic variability caused by the same mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10399877+4269389+15786463" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Frosk, P., Del Bigio, M. R., Wrogemann, K., Greenberg, C. R. &lt;strong&gt;Hutterite brothers both affected with two forms of limb girdle muscular dystrophy: LGMD2H and LGMD2I.&lt;/strong&gt; Europ. J. Hum. Genet. 13: 978-982, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15886712/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15886712&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/sj.ejhg.5201436&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15886712">Frosk et al. (2005)</a> reported a Hutterite family in which 2 boys, aged 7 and 10 years, were homozygous for both the LGMD2H-related TRIM32 mutation, D487N, and the LGMD2I-related FKRP mutation, L276I (<a href="/entry/606596#0004">606596.0004</a>). Although they presented at an early age with exercise intolerance and increased serum creatine kinase, the clinical phenotype was not significantly more severe than that of patients with isolated LGMD2H or LGMD2I. Both parents and 3 other sibs were homozygous for the D487N mutation, with highly variable phenotypic expression. The grandfather of the boys was the proband originally reported by <a href="#14" class="mim-tip-reference" title="Shokeir, M. H. K., Kobrinsky, N. L. &lt;strong&gt;Autosomal recessive muscular dystrophy in Manitoba Hutterites.&lt;/strong&gt; Clin. Genet. 9: 197-202, 1976.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1248180/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1248180&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1976.tb01568.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1248180">Shokeir and Kobrinsky (1976)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1248180+15886712" 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="Saccone, V., Palmieri, M., Passamano, L., Piluso, G., Meroni, G., Politano, L., Nigro, V. &lt;strong&gt;Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H.&lt;/strong&gt; Hum. Mutat. 29: 240-247, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17994549/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17994549&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.20633&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17994549">Saccone et al. (2008)</a> identified homozygous mutations in the TRIM32 gene (see, e.g., <a href="/entry/602290#0003">602290.0003</a>; <a href="/entry/602290#0004">602290.0004</a>) in non-Hutterite patients with LGMD2H. A 73-year-old man with a milder phenotype was found to be heterozygous for 1 of the mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17994549" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="populationGenetics" class="mim-anchor"></a>
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<strong>Population Genetics</strong>
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<p>The Hutterites are divided into several main groups (tribes or demes) (<a href="#5" class="mim-tip-reference" title="Hostetler, J. A. &lt;strong&gt;History and relevance of the Hutterite population for genetic studies.&lt;/strong&gt; Am. J. Med. Genet. 22: 453-462, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3904447/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3904447&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320220303&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3904447">Hostetler, 1985</a>). The cases reported by <a href="#14" class="mim-tip-reference" title="Shokeir, M. H. K., Kobrinsky, N. L. &lt;strong&gt;Autosomal recessive muscular dystrophy in Manitoba Hutterites.&lt;/strong&gt; Clin. Genet. 9: 197-202, 1976.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1248180/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1248180&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1976.tb01568.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1248180">Shokeir and Kobrinsky (1976)</a> were from the Schmiedeleut Hutterites of Manitoba Province in Canada. <a href="#15" class="mim-tip-reference" title="Shokeir, M. H. K., Rozdilsky, B. &lt;strong&gt;Muscular dystrophy in Saskatchewan Hutterites.&lt;/strong&gt; Am. J. Med. Genet. 22: 487-493, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4061485/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4061485&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320220306&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4061485">Shokeir and Rozdilsky (1985)</a> described the same type of muscular dystrophy in a Dariusleut kindred of Saskatchewan Province. They cited personal communications indicating the occurrence of the same muscular dystrophy in the Lehrerleut Hutterites of Alberta Province, as well. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1248180+4061485+3904447" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The Hutterites, also called Hutterite Brethren, live on farming colonies predominantly in the Prairie Province and Great Plains of the U.S., and constitute a religious and genetic isolate. The ancestry of the overwhelming majority of the Hutterites can be traced back to 89 ancestors (<a href="#11" class="mim-tip-reference" title="Nimgaonkar, V. L., Fujiwara, T. M., Dutta, M., Wood, J., Gentry, K., Maendel, S., Morgan, K., Eaton, J. &lt;strong&gt;Low prevalence of psychoses among the Hutterites, an isolated religious community.&lt;/strong&gt; Am. J. Psychiat. 157: 1065-1070, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10873912/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10873912&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1176/appi.ajp.157.7.1065&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10873912">Nimgaonkar et al., 2000</a>). The history and social structure of the Hutterite Brethren were described by <a href="#5" class="mim-tip-reference" title="Hostetler, J. A. &lt;strong&gt;History and relevance of the Hutterite population for genetic studies.&lt;/strong&gt; Am. J. Med. Genet. 22: 453-462, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3904447/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3904447&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320220303&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3904447">Hostetler (1985)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10873912+3904447" 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>Among 1,493 Schmiedeleut (S-leut) Hutterites from the United States, <a href="#1" class="mim-tip-reference" title="Chong, J. X., Ouwenga, R., Anderson, R. L., Waggoner, D. J., Ober, C. &lt;strong&gt;A population-based study of autosomal-recessive disease-causing mutations in a founder population.&lt;/strong&gt; Am. J. Hum. Genet. 91: 608-620, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22981120/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;22981120&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=22981120[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ajhg.2012.08.007&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="22981120">Chong et al. (2012)</a> found 228 heterozygotes and 9 homozygotes for the D487N mutation in the TRIM32 gene (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs111033570;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs111033570</a>; <a href="/entry/602290#0001">602290.0001</a>), for a frequency of 0.153, or 1 in 6.5. The carrier frequency in other populations was unknown, with only 2 non-Hutterite cases having been reported (<a href="#13" class="mim-tip-reference" title="Schoser, B. G. H., Frosk, P., Engel, A. G., Klutzny, U., Lochmuller, H., Wrogemann, K. &lt;strong&gt;Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H.&lt;/strong&gt; Ann. Neurol. 57: 591-595, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15786463/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15786463&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ana.20441&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15786463">Schoser et al., 2005</a>). The 9 homozygous individuals ranged in age from 10 to 42 years, and were unaware of their status. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22981120+15786463" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using comparative genomic hybridization (CGH) and sequencing of the TRIM32 gene in a 35-year-old Italian woman with LGMDR8, <a href="#10" class="mim-tip-reference" title="Neri, M., Selvatici, R., Scotton, C., Trabanelli, C., Armaroli, A., De Grandis, D., Levy, N., Gualandi, F., Ferlini, A. &lt;strong&gt;A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation.&lt;/strong&gt; Neuromusc. Disord. 23: 478-482, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/23541687/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;23541687&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.nmd.2013.02.003&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="23541687">Neri et al. (2013)</a> identified compound heterozygous mutations: a nonsense mutation (R316X; <a href="/entry/602290#0005">602290.0005</a>) in the C-terminal NHL domain of TRIM32 on one allele and a deletion including the entire TRIM32 gene on the other allele. The precise breakpoints of the deletion could not be defined. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23541687" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using an approach that combined screening of candidate genes with a CGH array and massively parallel sequencing, <a href="#9" class="mim-tip-reference" title="Nectoux, J., de Cid, R., Baulande, S., Leturcq, F., Urtizberea, J. A., Penisson-Besnier, I., Nadaj-Pakleza, A., Roudaut, C., Criqui, A., Orhant, L., Peyroulan, D., Ben Yaou, R., and 11 others. &lt;strong&gt;Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing.&lt;/strong&gt; Europ. J. Hum. Genet. 23: 929-934, 2015.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/25351777/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;25351777&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=25351777[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ejhg.2014.223&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="25351777">Nectoux et al. (2015)</a> identified a patient with LGMDR8 who had a frameshift mutation in the TRIM32 gene (c.160delC; <a href="/entry/602290#0006">602290.0006</a>), confirmed by Sanger sequencing, and a 124.4-kb deletion that included the entire TRIM32 gene and part of the ASTN2 gene (<a href="/entry/612856">612856</a>); see CYTOGENETICS. The deletion was confirmed by quantitative PCR. The parents were not available for study. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25351777" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="animalModel" class="mim-anchor"></a>
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<p><a href="#7" class="mim-tip-reference" title="Kudryashova, E., Wu, J., Havton, L. A., Spencer, M. J. &lt;strong&gt;Deficiency of the E3 ubiquitin ligase TRIM32 in mice leads to a myopathy with a neurogenic component.&lt;/strong&gt; Hum. Molec. Genet. 18: 1353-1367, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19155210/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19155210&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19155210[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddp036&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19155210">Kudryashova et al. (2009)</a> generated a Trim32-null mouse model of human muscular dystrophy phenotypes. Histologic analysis of Trim32-null skeletal muscles revealed mild myopathic changes. Electron microscopy showed areas with Z-line streaming and a dilated sarcotubular system with vacuoles, replicating the phenotypes of LGMD2H and sarcotubular myopathy. The level of Trim32 expression in normal mouse brain exceeded that observed in skeletal muscle by more than 100-fold. Analysis of Trim32-null neural tissue revealed a decreased concentration of neurofilaments and a reduction in myelinated motor axon diameters. The axonal changes suggested a shift toward a slower motor unit type. Trim32-null soleus muscle expressed an elevated type I slow myosin isotype with a concomitant reduction in the type II fast myosin. <a href="#7" class="mim-tip-reference" title="Kudryashova, E., Wu, J., Havton, L. A., Spencer, M. J. &lt;strong&gt;Deficiency of the E3 ubiquitin ligase TRIM32 in mice leads to a myopathy with a neurogenic component.&lt;/strong&gt; Hum. Molec. Genet. 18: 1353-1367, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19155210/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19155210&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19155210[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddp036&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19155210">Kudryashova et al. (2009)</a> suggested that muscular dystrophy due to TRIM32 mutation may involve both neurogenic and myogenic characteristics. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19155210" 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>REFERENCES</strong>
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<a id="Chong2012" class="mim-anchor"></a>
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Chong, J. X., Ouwenga, R., Anderson, R. L., Waggoner, D. J., Ober, C.
<strong>A population-based study of autosomal-recessive disease-causing mutations in a founder population.</strong>
Am. J. Hum. Genet. 91: 608-620, 2012.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22981120/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22981120</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22981120[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22981120" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.ajhg.2012.08.007" target="_blank">Full Text</a>]
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<a id="Frosk2005" class="mim-anchor"></a>
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Frosk, P., Del Bigio, M. R., Wrogemann, K., Greenberg, C. R.
<strong>Hutterite brothers both affected with two forms of limb girdle muscular dystrophy: LGMD2H and LGMD2I.</strong>
Europ. J. Hum. Genet. 13: 978-982, 2005.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15886712/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15886712</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15886712" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/sj.ejhg.5201436" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="3" class="mim-anchor"></a>
<a id="Frosk2005" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Frosk, P., Greenberg, C. R., Tennese, A. A. P., Lamont, R., Nylen, E., Hirst, C., Frappier, D., Roslin, N. M., Zaik, M., Bushby, K., Straub, V., Zatz, M., de Paula, F., Morgan, K., Fujiwara, T. M., Wrogemann, K.
<strong>The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations.</strong>
Hum. Mutat. 25: 38-44, 2005.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15580560/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15580560</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15580560" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/humu.20110" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="4" class="mim-anchor"></a>
<a id="Frosk2002" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Frosk, P., Weiler, T., Nylen, E., Sudha, T., Greenberg, C. R., Morgan, K., Fujiwara, T. M., Wrogemann, K.
<strong>Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene.</strong>
Am. J. Hum. Genet. 70: 663-672, 2002.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11822024/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11822024</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11822024[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11822024" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1086/339083" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="5" class="mim-anchor"></a>
<a id="Hostetler1985" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hostetler, J. A.
<strong>History and relevance of the Hutterite population for genetic studies.</strong>
Am. J. Med. Genet. 22: 453-462, 1985.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3904447/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3904447</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3904447" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320220303" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="6" class="mim-anchor"></a>
<a id="Jerusalem1973" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Jerusalem, F., Engel, A. G., Gomez, M. R.
<strong>Sarcotubular myopathy.</strong>
Neurology 23: 897-906, 1973.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4269389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4269389</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4269389" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1212/wnl.23.9.897" target="_blank">Full Text</a>]
</p>
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<a id="7" class="mim-anchor"></a>
<a id="Kudryashova2009" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kudryashova, E., Wu, J., Havton, L. A., Spencer, M. J.
<strong>Deficiency of the E3 ubiquitin ligase TRIM32 in mice leads to a myopathy with a neurogenic component.</strong>
Hum. Molec. Genet. 18: 1353-1367, 2009.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19155210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19155210</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19155210[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19155210" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/hmg/ddp036" target="_blank">Full Text</a>]
</p>
</div>
</li>
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<a id="8" class="mim-anchor"></a>
<a id="Muller-Felber1999" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Muller-Felber, W., Schlotter, B., Topfer, M., Ketelsen, U.-P., Muller-Hocker, J., Pongratz, D.
<strong>Phenotypic variability in two brothers with sarcotubular myopathy. (Letter)</strong>
J. Neurol. 246: 408-411, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10399877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10399877</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10399877" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/s004150050374" target="_blank">Full Text</a>]
</p>
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<a id="9" class="mim-anchor"></a>
<a id="Nectoux2015" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Nectoux, J., de Cid, R., Baulande, S., Leturcq, F., Urtizberea, J. A., Penisson-Besnier, I., Nadaj-Pakleza, A., Roudaut, C., Criqui, A., Orhant, L., Peyroulan, D., Ben Yaou, R., and 11 others.
<strong>Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing.</strong>
Europ. J. Hum. Genet. 23: 929-934, 2015.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25351777/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25351777</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25351777[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25351777" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/ejhg.2014.223" target="_blank">Full Text</a>]
</p>
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<a id="10" class="mim-anchor"></a>
<a id="Neri2013" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Neri, M., Selvatici, R., Scotton, C., Trabanelli, C., Armaroli, A., De Grandis, D., Levy, N., Gualandi, F., Ferlini, A.
<strong>A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation.</strong>
Neuromusc. Disord. 23: 478-482, 2013.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23541687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23541687</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23541687" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.nmd.2013.02.003" target="_blank">Full Text</a>]
</p>
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<a id="11" class="mim-anchor"></a>
<a id="Nimgaonkar2000" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Nimgaonkar, V. L., Fujiwara, T. M., Dutta, M., Wood, J., Gentry, K., Maendel, S., Morgan, K., Eaton, J.
<strong>Low prevalence of psychoses among the Hutterites, an isolated religious community.</strong>
Am. J. Psychiat. 157: 1065-1070, 2000.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10873912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10873912</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10873912" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1176/appi.ajp.157.7.1065" target="_blank">Full Text</a>]
</p>
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<a id="12" class="mim-anchor"></a>
<a id="Saccone2008" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Saccone, V., Palmieri, M., Passamano, L., Piluso, G., Meroni, G., Politano, L., Nigro, V.
<strong>Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H.</strong>
Hum. Mutat. 29: 240-247, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17994549/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17994549</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17994549" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/humu.20633" target="_blank">Full Text</a>]
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<a id="13" class="mim-anchor"></a>
<a id="Schoser2005" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Schoser, B. G. H., Frosk, P., Engel, A. G., Klutzny, U., Lochmuller, H., Wrogemann, K.
<strong>Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H.</strong>
Ann. Neurol. 57: 591-595, 2005.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15786463/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15786463</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15786463" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ana.20441" target="_blank">Full Text</a>]
</p>
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<a id="14" class="mim-anchor"></a>
<a id="Shokeir1976" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Shokeir, M. H. K., Kobrinsky, N. L.
<strong>Autosomal recessive muscular dystrophy in Manitoba Hutterites.</strong>
Clin. Genet. 9: 197-202, 1976.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1248180/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1248180</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1248180" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.1976.tb01568.x" target="_blank">Full Text</a>]
</p>
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<a id="15" class="mim-anchor"></a>
<a id="Shokeir1985" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Shokeir, M. H. K., Rozdilsky, B.
<strong>Muscular dystrophy in Saskatchewan Hutterites.</strong>
Am. J. Med. Genet. 22: 487-493, 1985.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4061485/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4061485</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4061485" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320220306" target="_blank">Full Text</a>]
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<a id="Straub2018" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
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://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>]
[<a href="https://doi.org/10.1016/j.nmd.2018.05.007" target="_blank">Full Text</a>]
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<a id="17" class="mim-anchor"></a>
<a id="Weiler1997" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Weiler, T., Greenberg, C. R., Nylen, E., Morgan, K., Fujiwara, T. M., Crumley, M. J., Zelinski, T., Halliday, W., Nickel, B., Triggs-Raine, B., Wrogemann, K.
<strong>Limb girdle muscular dystrophy in Manitoba Hutterites does not map to any of the known LGMD loci.</strong>
Am. J. Med. Genet. 72: 363-368, 1997.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9332671/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9332671</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9332671" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/(sici)1096-8628(19971031)72:3&lt;363::aid-ajmg22&gt;3.0.co;2-q" target="_blank">Full Text</a>]
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<a id="18" class="mim-anchor"></a>
<a id="Weiler1998" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Weiler, T., Greenberg, C. R., Zelinski, T., Nylen, E., Coghlan, G., Crumley, M. J., Fujiwara, T. M., Morgan, K., Wrogemann, K.
<strong>A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus.</strong>
Am. J. Hum. Genet. 63: 140-147, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9634523/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9634523</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9634523" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1086/301925" target="_blank">Full Text</a>]
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<span class="mim-text-font">
Sonja A. Rasmussen - updated : 03/10/2022
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<span class="mim-text-font">
Ada Hamosh - updated : 2/13/2013<br>George E. Tiller - updated : 11/10/2009<br>Cassandra L. Kniffin - updated : 3/6/2008<br>Cassandra L. Kniffin - updated : 4/27/2005<br>Cassandra L. Kniffin - updated : 2/16/2005<br>Victor A. McKusick - updated : 2/4/2005<br>Victor A. McKusick - updated : 3/21/2002<br>Victor A. McKusick - updated : 7/22/1998
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Creation Date:
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Victor A. McKusick : 6/4/1986
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carol : 03/26/2024
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alopez : 03/21/2023<br>carol : 03/14/2022<br>carol : 03/10/2022<br>carol : 09/25/2018<br>carol : 03/27/2017<br>alopez : 02/13/2013<br>alopez : 2/13/2013<br>carol : 11/11/2010<br>wwang : 11/10/2009<br>wwang : 3/12/2008<br>ckniffin : 3/6/2008<br>wwang : 11/26/2007<br>wwang : 2/20/2006<br>ckniffin : 2/10/2006<br>tkritzer : 5/9/2005<br>ckniffin : 4/27/2005<br>carol : 2/16/2005<br>carol : 2/16/2005<br>ckniffin : 2/15/2005<br>terry : 2/4/2005<br>ckniffin : 12/27/2002<br>alopez : 3/27/2002<br>alopez : 3/27/2002<br>terry : 3/21/2002<br>carol : 10/12/1999<br>terry : 7/22/1998<br>mimman : 2/8/1996<br>supermim : 3/17/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989<br>marie : 3/25/1988<br>reenie : 6/4/1986
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<strong>#</strong> 254110
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<span class="mim-font">
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8; LGMDR8
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<em>Alternative titles; symbols</em>
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<span class="mim-font">
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H; LGMD2H<br />
MUSCULAR DYSTROPHY, HUTTERITE TYPE<br />
SARCOTUBULAR MYOPATHY
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<span class="mim-text-font">
<strong>SNOMEDCT:</strong> 240064008, 43226001; &nbsp;
<strong>ORPHA:</strong> 1878; &nbsp;
<strong>DO:</strong> 0110282; &nbsp;
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<div>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed 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">
9q33.1
</span>
</td>
<td>
<span class="mim-font">
Muscular dystrophy, limb-girdle, autosomal recessive 8
</span>
</td>
<td>
<span class="mim-font">
254110
</span>
</td>
<td>
<span class="mim-font">
Autosomal recessive
</span>
</td>
<td>
<span class="mim-font">
3
</span>
</td>
<td>
<span class="mim-font">
TRIM32
</span>
</td>
<td>
<span class="mim-font">
602290
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>TEXT</strong>
</span>
</h4>
<span class="mim-text-font">
<p>A number sign (#) is used with this entry because of evidence that autosomal recessive limb-girdle muscular dystrophy-8 (LGMDR8) is caused by homozygous mutation in the gene encoding tripartite motif-containing protein-32 (TRIM32; 602290) on chromosome 9q33.</p><p>For a discussion of genetic heterogeneity of autosomal recessive LGMD, see LGMDR1 (253600).</p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Nomenclature</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>At the 229th ENMC international workshop, Straub et al. (2018) reviewed, reclassified, and/or renamed forms of LGMD. The proposed naming formula was 'LGMD, inheritance (R or D), order of discovery (number), affected protein.' Under this formula, LGMD2H was renamed LGMDR8. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Clinical Features</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Jerusalem et al. (1973) reported 2 brothers from an inbred Hutterite colony with a disorder they termed 'sarcotubular myopathy.' Nonprogressive muscular weakness was present from infancy. Muscle biopsy showed selective involvement of type II fibers with changes that were vacuolar in transverse section and segmental on longitudinal section. The spaces were membrane-bound on electron microscopy. Cytochemical markers indicated that the delimiting membranes were reactive for the sarcoplasmic reticulum-associated ATPase. </p><p>In a geographically isolated Hutterite population in Manitoba, Shokeir and Kobrinsky (1976) described a slowly progressive proximal muscular dystrophy with facial features. Eleven persons were known to be affected. In 1 case an affected male had 9 unaffected children, and another affected male had 8 unaffected children. Onset was between 1 and 9 years of age, in the quadriceps and pelvic girdle musculature. Patients show a waddling gait and difficulty rising from the squatting position as well as a 'flat smile.' EMG and muscle biopsy showed a muscular dystrophy. </p><p>Weiler et al. (1998) considered individuals affected if they showed signs and symptoms of proximal muscle weakness and had creatine kinase (CK) levels more than 4 times the upper limit of normal. Other features included signs and symptoms of proximal muscle weakness, and electromyogram or muscle biopsy consistent with a myopathic disorder. Asymptomatic patients with extremely elevated CK levels (more than 15 times the upper limit of normal) were also considered affected. Eighteen (11 males and 7 females) of 40 studied individuals in 4 related nuclear Hutterite families were classified as LGMD patients. </p><p>Muller-Felber et al. (1999) reported 2 German brothers with sarcotubular myopathy who had very different clinical courses. The older patient developed exercise-induced muscle weakness and pain at age 6 years. He had slow progression and was wheelchair-bound by his late twenties. He also had scapular winging, moderate hypertrophy of the calves, absent deep tendon reflexes, and increased serum creatine kinase. Skeletal muscle biopsy showed rounded muscle fibers with centralized nuclei and small membrane-bound vacuoles. The younger brother developed exercise-induced myalgia at age 32 years with little progression and disability. Skeletal muscle biopsy was similar to his brother's. The parents were unaffected. </p><p>Frosk et al. (2005) compared the clinical features of Hutterites with LGMD2H with those of Hutterites with LGMD2I (LGMDR9; 607155) caused by an L276I mutation in the FKRP gene (606596.0004). The FKRP L276I mutation also occurs in non-Hutterite patients with LGMD from Europe, Canada, and Brazil, and appears to be a founder mutation dispersed among populations of European origin. Hutterite LGMD2I patients had an earlier age at diagnosis, a more severe course, and higher serum creatine kinase than LGMD2H patients. In addition, some of the LGMD2I patients showed calf hypertrophy, cardiac symptoms, and severe reactions to general anesthesia; none of these features were present among LGMD2H patients. </p><p>Saccone et al. (2008) reported 2 unrelated non-Hutterite European patients with LGMD2H. A 44-year-old Croatian woman had slowly progressive proximal muscle weakness and wasting, respiratory weakness, and chronic keratitis. EMG showed myopathic and neurogenic changes. An unrelated man with LGMD2H reported disease onset in the third decade with weakness and paresthesias. He had marked proximal weakness and atrophy as well as respiratory weakness, and lost the ability to walk at age 64 after prolonged immobility for other causes. </p><p>Neri et al. (2013) reported a 35-year-old Italian woman with LGMDR8 who presented with muscle weakness and muscle pain predominantly of the lower limbs. She had normal motor development but was unable to run as fast as her peers in childhood. She first experience progressive muscle weakness and difficulty climbing stairs at age 25 years. On examination she had marked hypotrophy and weakness of the pelvic girdle muscles, especially the glutei, but no evidence of calf hypertrophy. Her cardiac examination and EKG were normal. Her CK levels were 2 times normal and an electromyography of her biceps brachialis and tibialis muscles showed a myopathic pattern with decrease in duration of the action potential. </p><p>Nectoux et al. (2015) reported 2 patients with LGMDR8. The first patient experienced progressive muscle weakness, scapular winging, and a waddling gait beginning at age 30 years. When he was seen 10 years later, he had frequent falls, moderately elevated CK levels, and a myogenic pattern on electromyography. On muscle biopsy, a nonspecific myopathy pattern was seen. The second patient, who was first seen at age 41 years, described difficulties with jumping and rope climbing since the age of 10 years. Difficulties with climbing stairs began at age 30, and the patient became wheelchair bound by the age of 50. The patient had a pure atrophic presentation with the quadriceps muscles being the most affected. CK levels were normal and an electromyogram showed myogenic impairment. A muscle biopsy of the biceps brachialis muscle was compatible with a dystrophic process. An echocardiogram at age 50 showed moderate hypertrophy of both ventricular walls, without left ventricular dysfunction. The patient also developed mild progressive cognitive impairment. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Mapping</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Weiler et al. (1997) found that autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites was not linked to any of the 7 known LGMD loci or to any of 3 other candidate genes. They studied 4 related sibships with a total of 21 patients with a mild form of autosomal recessive LGMD. Weiler et al. (1998) used a genome scan of pooled DNA in the large Hutterite kindred to demonstrate linkage between limb-girdle muscular dystrophy of a mild autosomal recessive form and chromosomal region 9q31-q34.1. The FKTN gene (607440), which is responsible for Fukuyama congenital muscular dystrophy (FCMD), now designated muscular dystrophy-dystroglycanopathy type A4 (MDDGA4; 253800), maps to this region, but haplotype analysis revealed 5 recombinations that placed the LGMD locus distal to the FCMD locus. On the basis of an inferred ancestral recombination, the gene, symbolized LGMD2H, may lie in a 300-kb region between D9S302 and D9S934. </p><p>Frosk et al. (2002) narrowed the candidate LGMD2H region to 560 kb, flanked by D9S1126 and D9S737 and containing 4 genes. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Cytogenetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Using an approach that combined screening of candidate genes with a CGH array and massively parallel sequencing, Nectoux et al. (2015) identified 2 patients with LGMDR8 with homozygous or compound heterozygous mutations in the TRIM32 gene. In the first patient, one allele had a frameshift mutation (602290.0006), confirmed by Sanger sequencing, and the other allele had a 124.4-kb deletion that included the entire TRIM32 gene. The second patient, born to nonconsanguineous parents, had a homozygous 336-kb deletion including the TRIM32 gene. The deletions in both patients, which were confirmed by quantitative PCR, included part of the ASTN2 gene (612856). Analysis of the breakpoints showed that the 5-prime boundaries of both deletions were located within regions enriched with genomic repeats, possibly making rearrangements and deletions more likely to occur. Parents were not available for study for either patient. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Inheritance</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>The transmission pattern of LGMD2H in the families reported by Frosk et al. (2002) and Schoser et al. (2005) was consistent with autosomal recessive inheritance. </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 Hutterite patients with LGMD2H, Frosk et al. (2002) identified a homozygous asp487-to-asn mutation in the TRIM32 gene (D487N; 602290.0001). </p><p>Schoser et al. (2005) identified the homozygous D487N mutation in the TRIM32 gene in the patients reported by Jerusalem et al. (1973) and Muller-Felber et al. (1999), confirming that they had LGMD2H. In addition, haplotype analysis showed that all LGMD2H patients shared the same haplotype, suggesting that the mutation arose before the emergence of the Hutterite religion in central Europe in the 16th century. Schoser et al. (2005) noted the phenotypic variability caused by the same mutation. </p><p>Frosk et al. (2005) reported a Hutterite family in which 2 boys, aged 7 and 10 years, were homozygous for both the LGMD2H-related TRIM32 mutation, D487N, and the LGMD2I-related FKRP mutation, L276I (606596.0004). Although they presented at an early age with exercise intolerance and increased serum creatine kinase, the clinical phenotype was not significantly more severe than that of patients with isolated LGMD2H or LGMD2I. Both parents and 3 other sibs were homozygous for the D487N mutation, with highly variable phenotypic expression. The grandfather of the boys was the proband originally reported by Shokeir and Kobrinsky (1976). </p><p>Saccone et al. (2008) identified homozygous mutations in the TRIM32 gene (see, e.g., 602290.0003; 602290.0004) in non-Hutterite patients with LGMD2H. A 73-year-old man with a milder phenotype was found to be heterozygous for 1 of the mutations. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Population Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>The Hutterites are divided into several main groups (tribes or demes) (Hostetler, 1985). The cases reported by Shokeir and Kobrinsky (1976) were from the Schmiedeleut Hutterites of Manitoba Province in Canada. Shokeir and Rozdilsky (1985) described the same type of muscular dystrophy in a Dariusleut kindred of Saskatchewan Province. They cited personal communications indicating the occurrence of the same muscular dystrophy in the Lehrerleut Hutterites of Alberta Province, as well. </p><p>The Hutterites, also called Hutterite Brethren, live on farming colonies predominantly in the Prairie Province and Great Plains of the U.S., and constitute a religious and genetic isolate. The ancestry of the overwhelming majority of the Hutterites can be traced back to 89 ancestors (Nimgaonkar et al., 2000). The history and social structure of the Hutterite Brethren were described by Hostetler (1985). </p><p>Among 1,493 Schmiedeleut (S-leut) Hutterites from the United States, Chong et al. (2012) found 228 heterozygotes and 9 homozygotes for the D487N mutation in the TRIM32 gene (rs111033570; 602290.0001), for a frequency of 0.153, or 1 in 6.5. The carrier frequency in other populations was unknown, with only 2 non-Hutterite cases having been reported (Schoser et al., 2005). The 9 homozygous individuals ranged in age from 10 to 42 years, and were unaware of their status. </p><p>Using comparative genomic hybridization (CGH) and sequencing of the TRIM32 gene in a 35-year-old Italian woman with LGMDR8, Neri et al. (2013) identified compound heterozygous mutations: a nonsense mutation (R316X; 602290.0005) in the C-terminal NHL domain of TRIM32 on one allele and a deletion including the entire TRIM32 gene on the other allele. The precise breakpoints of the deletion could not be defined. </p><p>Using an approach that combined screening of candidate genes with a CGH array and massively parallel sequencing, Nectoux et al. (2015) identified a patient with LGMDR8 who had a frameshift mutation in the TRIM32 gene (c.160delC; 602290.0006), confirmed by Sanger sequencing, and a 124.4-kb deletion that included the entire TRIM32 gene and part of the ASTN2 gene (612856); see CYTOGENETICS. The deletion was confirmed by quantitative PCR. The parents were not available for study. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Animal Model</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Kudryashova et al. (2009) generated a Trim32-null mouse model of human muscular dystrophy phenotypes. Histologic analysis of Trim32-null skeletal muscles revealed mild myopathic changes. Electron microscopy showed areas with Z-line streaming and a dilated sarcotubular system with vacuoles, replicating the phenotypes of LGMD2H and sarcotubular myopathy. The level of Trim32 expression in normal mouse brain exceeded that observed in skeletal muscle by more than 100-fold. Analysis of Trim32-null neural tissue revealed a decreased concentration of neurofilaments and a reduction in myelinated motor axon diameters. The axonal changes suggested a shift toward a slower motor unit type. Trim32-null soleus muscle expressed an elevated type I slow myosin isotype with a concomitant reduction in the type II fast myosin. Kudryashova et al. (2009) suggested that muscular dystrophy due to TRIM32 mutation may involve both neurogenic and myogenic characteristics. </p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Chong, J. X., Ouwenga, R., Anderson, R. L., Waggoner, D. J., Ober, C.
<strong>A population-based study of autosomal-recessive disease-causing mutations in a founder population.</strong>
Am. J. Hum. Genet. 91: 608-620, 2012.
[PubMed: 22981120]
[Full Text: https://doi.org/10.1016/j.ajhg.2012.08.007]
</p>
</li>
<li>
<p class="mim-text-font">
Frosk, P., Del Bigio, M. R., Wrogemann, K., Greenberg, C. R.
<strong>Hutterite brothers both affected with two forms of limb girdle muscular dystrophy: LGMD2H and LGMD2I.</strong>
Europ. J. Hum. Genet. 13: 978-982, 2005.
[PubMed: 15886712]
[Full Text: https://doi.org/10.1038/sj.ejhg.5201436]
</p>
</li>
<li>
<p class="mim-text-font">
Frosk, P., Greenberg, C. R., Tennese, A. A. P., Lamont, R., Nylen, E., Hirst, C., Frappier, D., Roslin, N. M., Zaik, M., Bushby, K., Straub, V., Zatz, M., de Paula, F., Morgan, K., Fujiwara, T. M., Wrogemann, K.
<strong>The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations.</strong>
Hum. Mutat. 25: 38-44, 2005.
[PubMed: 15580560]
[Full Text: https://doi.org/10.1002/humu.20110]
</p>
</li>
<li>
<p class="mim-text-font">
Frosk, P., Weiler, T., Nylen, E., Sudha, T., Greenberg, C. R., Morgan, K., Fujiwara, T. M., Wrogemann, K.
<strong>Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene.</strong>
Am. J. Hum. Genet. 70: 663-672, 2002.
[PubMed: 11822024]
[Full Text: https://doi.org/10.1086/339083]
</p>
</li>
<li>
<p class="mim-text-font">
Hostetler, J. A.
<strong>History and relevance of the Hutterite population for genetic studies.</strong>
Am. J. Med. Genet. 22: 453-462, 1985.
[PubMed: 3904447]
[Full Text: https://doi.org/10.1002/ajmg.1320220303]
</p>
</li>
<li>
<p class="mim-text-font">
Jerusalem, F., Engel, A. G., Gomez, M. R.
<strong>Sarcotubular myopathy.</strong>
Neurology 23: 897-906, 1973.
[PubMed: 4269389]
[Full Text: https://doi.org/10.1212/wnl.23.9.897]
</p>
</li>
<li>
<p class="mim-text-font">
Kudryashova, E., Wu, J., Havton, L. A., Spencer, M. J.
<strong>Deficiency of the E3 ubiquitin ligase TRIM32 in mice leads to a myopathy with a neurogenic component.</strong>
Hum. Molec. Genet. 18: 1353-1367, 2009.
[PubMed: 19155210]
[Full Text: https://doi.org/10.1093/hmg/ddp036]
</p>
</li>
<li>
<p class="mim-text-font">
Muller-Felber, W., Schlotter, B., Topfer, M., Ketelsen, U.-P., Muller-Hocker, J., Pongratz, D.
<strong>Phenotypic variability in two brothers with sarcotubular myopathy. (Letter)</strong>
J. Neurol. 246: 408-411, 1999.
[PubMed: 10399877]
[Full Text: https://doi.org/10.1007/s004150050374]
</p>
</li>
<li>
<p class="mim-text-font">
Nectoux, J., de Cid, R., Baulande, S., Leturcq, F., Urtizberea, J. A., Penisson-Besnier, I., Nadaj-Pakleza, A., Roudaut, C., Criqui, A., Orhant, L., Peyroulan, D., Ben Yaou, R., and 11 others.
<strong>Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing.</strong>
Europ. J. Hum. Genet. 23: 929-934, 2015.
[PubMed: 25351777]
[Full Text: https://doi.org/10.1038/ejhg.2014.223]
</p>
</li>
<li>
<p class="mim-text-font">
Neri, M., Selvatici, R., Scotton, C., Trabanelli, C., Armaroli, A., De Grandis, D., Levy, N., Gualandi, F., Ferlini, A.
<strong>A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation.</strong>
Neuromusc. Disord. 23: 478-482, 2013.
[PubMed: 23541687]
[Full Text: https://doi.org/10.1016/j.nmd.2013.02.003]
</p>
</li>
<li>
<p class="mim-text-font">
Nimgaonkar, V. L., Fujiwara, T. M., Dutta, M., Wood, J., Gentry, K., Maendel, S., Morgan, K., Eaton, J.
<strong>Low prevalence of psychoses among the Hutterites, an isolated religious community.</strong>
Am. J. Psychiat. 157: 1065-1070, 2000.
[PubMed: 10873912]
[Full Text: https://doi.org/10.1176/appi.ajp.157.7.1065]
</p>
</li>
<li>
<p class="mim-text-font">
Saccone, V., Palmieri, M., Passamano, L., Piluso, G., Meroni, G., Politano, L., Nigro, V.
<strong>Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H.</strong>
Hum. Mutat. 29: 240-247, 2008.
[PubMed: 17994549]
[Full Text: https://doi.org/10.1002/humu.20633]
</p>
</li>
<li>
<p class="mim-text-font">
Schoser, B. G. H., Frosk, P., Engel, A. G., Klutzny, U., Lochmuller, H., Wrogemann, K.
<strong>Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H.</strong>
Ann. Neurol. 57: 591-595, 2005.
[PubMed: 15786463]
[Full Text: https://doi.org/10.1002/ana.20441]
</p>
</li>
<li>
<p class="mim-text-font">
Shokeir, M. H. K., Kobrinsky, N. L.
<strong>Autosomal recessive muscular dystrophy in Manitoba Hutterites.</strong>
Clin. Genet. 9: 197-202, 1976.
[PubMed: 1248180]
[Full Text: https://doi.org/10.1111/j.1399-0004.1976.tb01568.x]
</p>
</li>
<li>
<p class="mim-text-font">
Shokeir, M. H. K., Rozdilsky, B.
<strong>Muscular dystrophy in Saskatchewan Hutterites.</strong>
Am. J. Med. Genet. 22: 487-493, 1985.
[PubMed: 4061485]
[Full Text: https://doi.org/10.1002/ajmg.1320220306]
</p>
</li>
<li>
<p class="mim-text-font">
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: 30055862]
[Full Text: https://doi.org/10.1016/j.nmd.2018.05.007]
</p>
</li>
<li>
<p class="mim-text-font">
Weiler, T., Greenberg, C. R., Nylen, E., Morgan, K., Fujiwara, T. M., Crumley, M. J., Zelinski, T., Halliday, W., Nickel, B., Triggs-Raine, B., Wrogemann, K.
<strong>Limb girdle muscular dystrophy in Manitoba Hutterites does not map to any of the known LGMD loci.</strong>
Am. J. Med. Genet. 72: 363-368, 1997.
[PubMed: 9332671]
[Full Text: https://doi.org/10.1002/(sici)1096-8628(19971031)72:3&lt;363::aid-ajmg22&gt;3.0.co;2-q]
</p>
</li>
<li>
<p class="mim-text-font">
Weiler, T., Greenberg, C. R., Zelinski, T., Nylen, E., Coghlan, G., Crumley, M. J., Fujiwara, T. M., Morgan, K., Wrogemann, K.
<strong>A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus.</strong>
Am. J. Hum. Genet. 63: 140-147, 1998.
[PubMed: 9634523]
[Full Text: https://doi.org/10.1086/301925]
</p>
</li>
</ol>
<div>
<br />
</div>
</div>
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
<span class="text-nowrap mim-text-font">
Contributors:
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Sonja A. Rasmussen - updated : 03/10/2022<br>Ada Hamosh - updated : 2/13/2013<br>George E. Tiller - updated : 11/10/2009<br>Cassandra L. Kniffin - updated : 3/6/2008<br>Cassandra L. Kniffin - updated : 4/27/2005<br>Cassandra L. Kniffin - updated : 2/16/2005<br>Victor A. McKusick - updated : 2/4/2005<br>Victor A. McKusick - updated : 3/21/2002<br>Victor A. McKusick - updated : 7/22/1998
</span>
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</div>
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<div>
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</div>
<div>
<div class="row">
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
<span class="text-nowrap mim-text-font">
Creation Date:
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Victor A. McKusick : 6/4/1986
</span>
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<div>
<div class="row">
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
<span class="text-nowrap mim-text-font">
Edit History:
</span>
</div>
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