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<title>
Entry
- #253700 - MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5; LGMDR5
- OMIM
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<span class="h4">#253700</span>
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<strong>Table of Contents</strong>
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<li role="presentation">
<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
<a href="/clinicalSynopsis/253700"><strong>Clinical Synopsis</strong></a>
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<li role="presentation">
<a href="/phenotypicSeries/PS253600"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
<a href="#nomenclature">Nomenclature</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#clinicalFeatures">Clinical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#otherFeatures">Other Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#populationGenetics">Population Genetics</a>
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<a href="#history">History</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#animalModel">Animal Model</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
<a href="#references"><strong>References</strong></a>
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<li role="presentation">
<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div style="display: table-cell;">External Links</div>
</div>
</a>
</h4>
</div>
</div>
<div id="mimExternalLinksFold" class="collapse in">
<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
<span class="panel-title">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9660;</div>
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<div style="display: table-cell;">Clinical Resources</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
<div class="panel-body small mim-panel-body">
<div><a href="https://clinicaltrials.gov/search?cond=(MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE) OR (SGCG)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=8716&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
<div><a href="https://www.diseaseinfosearch.org/x/4238" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=253700[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=353" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Animal Models</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:0110277" 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/253700" 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><a href="https://wormbase.org/resources/disease/DOID:0110277" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
</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;
</span>
</span>
</div>
<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>ICD10CM:</strong> G71.0349<br />
<strong>ORPHA:</strong> 353<br />
<strong>DO:</strong> 0110277<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>
253700
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5; LGMDR5
</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 2C; LGMD2C<br />
MUSCULAR DYSTROPHY, DUCHENNE-LIKE<br />
DUCHENNE-LIKE MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE, TYPE 1; DMDA1<br />
DMDA<br />
ADHALIN DEFICIENCY, SECONDARY<br />
SARCOGLYCAN, GAMMA, DEFICIENCY OF<br />
SEVERE CHILDHOOD AUTOSOMAL RECESSIVE MUSCULAR DYSTROPHY, NORTH AFRICAN TYPE; SCARMD<br />
MAGHREBIAN 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/13/30?start=-3&limit=10&highlight=30">
13q12.12
</a>
</span>
</td>
<td>
<span class="mim-font">
Muscular dystrophy, limb-girdle, autosomal recessive 5
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/253700"> 253700 </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">
SGCG
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608896"> 608896 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/253700" class="btn btn-warning" role="button"> Clinical Synopsis </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&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')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
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</div>
&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/253700" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/253700" 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> CARDIOVASCULAR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Heart </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Subclinical cardiac involvement in a subset of patients <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850882&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850882</a>]</span><br /> -
Abnormal precordial tall R waves on EKG <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850883&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850883</a>]</span><br /> -
Right ventricular hypertrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/89792004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">89792004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0162770&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0162770</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001667" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001667</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001667" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001667</a>]</span><br /> -
Right ventricular dilatation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253522006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253522006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0344893&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0344893</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005133" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005133</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005133" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005133</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> RESPIRATORY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Lung </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Restrictive lung disease <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/36485005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">36485005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0085581&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085581</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002091" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002091</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002091" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002091</a>]</span><br /> -
Pneumonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/233604007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">233604007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0032285&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0032285</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002090" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002090</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002090" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002090</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Spine </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hyperlordosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/61960001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">61960001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249710008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249710008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1187290008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1187290008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M40.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M40.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0024003&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0024003</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003307" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003307</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003307" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003307</a>]</span><br /> -
Scoliosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298382003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298382003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20944008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20944008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111266001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111266001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0559260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0559260</a>, <a href="https://bioportal.bioontology.org/search?q=C0036439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036439</a>, <a href="https://bioportal.bioontology.org/search?q=C0700208&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700208</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Limbs </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Joint contractures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7890003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7890003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M24.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M24.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/718.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">718.4</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/718.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">718.40</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009918&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009918</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034392" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034392</a>]</span><br />
</span>
</div>
</div>
</div>
</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">
- Progressive proximal muscle involvement <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806458&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806458</a>]</span><br /> -
Muscle atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/88092000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">88092000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0541794&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0541794</a>, <a href="https://bioportal.bioontology.org/search?q=C0026846&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026846</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003202" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003202</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003202" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003202</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 /> -
Unstable gait <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22631008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22631008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0231686&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0231686</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002317" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002317</a>]</span><br /> -
Gowers sign <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/85905009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">85905009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234182&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234182</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 /> -
Loss of independent ambulation around age 12 years <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850877&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850877</a>]</span><br /> -
Muscle biopsy shows dystrophic pattern <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850878&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850878</a>]</span><br /> -
Patchy muscle fiber degeneration <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850879&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850879</a>]</span><br /> -
Muscle fiber necrosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850848&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850848</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003713" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003713</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003713" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003713</a>]</span><br /> -
Absence of gamma-sarcoglycan protein <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850880&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850880</a>]</span><br /> -
Normal dystrophin immunostaining <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850881&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850881</a>]</span><br />
</span>
</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">
- Onset 1-12 years<br /> -
Rapid progression <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1838681&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1838681</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003678" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003678</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003678" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003678</a>]</span><br /> -
Prevalent in North Africa<br /> -
Wheelchair use by 10-30 years<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 gamma sarcoglycan gene (SGCG, <a href="/entry/608896#0001">608896.0001</a>)<br />
</span>
</div>
</div>
</div>
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
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<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>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608099"> Muscular dystrophy, limb-girdle, autosomal recessive 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/608099"> 608099 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600119"> SGCA </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600119"> 600119 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/859?start=-3&limit=10&highlight=859"> 19q13.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607155"> Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 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/607155"> 607155 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606596"> FKRP </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606596"> 606596 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/21/174?start=-3&limit=10&highlight=174"> 21q22.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/254090"> Ullrich congenital muscular dystrophy 1A </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/254090"> 254090 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/120220"> COL6A1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/120220"> 120220 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
<div class="text-right small">
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
</div>
<div>
<br />
</div>
<div>
<a id="text" class="mim-anchor"></a>
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<p>A number sign (#) is used with this entry because autosomal recessive limb-girdle muscular dystrophy-5 (LGMDR5) is caused by homozygous mutation in the gamma-sarcoglycan gene (SGCG; <a href="/entry/608896">608896</a>) on chromosome 13q12.</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="#37" 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, LGMD2C was renamed LGMDR5. <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>Autosomal recessive inheritance of a muscular dystrophy resembling X-linked Duchenne muscular dystrophy (DMD; <a href="/entry/310200">310200</a>) was reported by <a href="#21" class="mim-tip-reference" title="Kloepfer, H. W., Talley, C. &lt;strong&gt;Autosomal recessive inheritance of Duchenne-type muscular dystrophy.&lt;/strong&gt; Ann. Hum. Genet. 22: 138-143, 1958.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13509526/&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;13509526&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1469-1809.1957.tb01928.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="13509526">Kloepfer and Talley (1958)</a>, <a href="#11" class="mim-tip-reference" title="Dubowitz, V. &lt;strong&gt;Progressive muscular dystrophy of the Duchenne type in females and its mode of inheritance.&lt;/strong&gt; Brain 83: 432-439, 1960.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13724668/&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;13724668&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/brain/83.3.432&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="13724668">Dubowitz (1960)</a>, and <a href="#34" class="mim-tip-reference" title="Skyring, A. P., McKusick, V. A. &lt;strong&gt;Clinical, genetic and electrocardiographic studies in childhood muscular dystrophy.&lt;/strong&gt; Am. J. Med. Sci. 242: 534-547, 1961.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13913764/&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;13913764&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/00000441-196111000-00002&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="13913764">Skyring and McKusick (1961)</a>, among others. The clinical course was characterized by onset before age 5 years, confinement to wheelchair by 12 years, and death usually before age 20 years. Pseudohypertrophy was present. <a href="#34" class="mim-tip-reference" title="Skyring, A. P., McKusick, V. A. &lt;strong&gt;Clinical, genetic and electrocardiographic studies in childhood muscular dystrophy.&lt;/strong&gt; Am. J. Med. Sci. 242: 534-547, 1961.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13913764/&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;13913764&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/00000441-196111000-00002&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="13913764">Skyring and McKusick (1961)</a> suggested that the signs of cardiac involvement present in the X-linked form may be lacking in the autosomal variety. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13913764+13724668+13509526" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#24" class="mim-tip-reference" title="McKusick, V. A. &lt;strong&gt;Personal Communication.&lt;/strong&gt; Baltimore, Maryland 5/1971."None>McKusick (1971)</a> had the opportunity to restudy 2 affected sibs reported by <a href="#21" class="mim-tip-reference" title="Kloepfer, H. W., Talley, C. &lt;strong&gt;Autosomal recessive inheritance of Duchenne-type muscular dystrophy.&lt;/strong&gt; Ann. Hum. Genet. 22: 138-143, 1958.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13509526/&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;13509526&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1469-1809.1957.tb01928.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="13509526">Kloepfer and Talley (1958)</a>. At that time, the 30-year-old sister had evidence of cardiac involvement with chronic congestive heart failure, and the 27-year-old brother had arrhythmia with coronary sinus rhythm by electrocardiogram. The sister had 2 children, aged 6 and 4 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13509526" 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="#5" class="mim-tip-reference" title="Ben Hamida, M., Fardeau, M., Attia, N. &lt;strong&gt;Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia.&lt;/strong&gt; Muscle Nerve 6: 469-480, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6633560/&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;6633560&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/mus.880060702&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="6633560">Ben Hamida et al. (1983)</a> reported 93 children with a form of autosomal recessive, severe, progressive muscular dystrophy unusually frequent in Tunisia. Of the 93 cases, 75 came from 17 families with affected persons of both sexes and the other 18 came from 11 families with only girls affected. The 28 kindreds included 45 pairs of parents with myopathic children. Over three-fourths of the parental pairs were closely consanguineous, compared with consanguinity rates of 16 to 23% in the general population. Inability to walk occurred between ages 10 and 20. The serum creatine kinase was markedly raised in the early stages of disease. Muscle wasting affected mainly limb girdle and truncal muscles; calf muscle hypertrophy was usually present. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6633560" 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="#35" class="mim-tip-reference" title="Somer, H., Voutilainen, A., Knuutila, S., Kaitila, I., Rapola, J., Leinonen, H. &lt;strong&gt;Duchenne-like muscular dystrophy in two sisters with normal karyotypes: evidence for autosomal recessive inheritance.&lt;/strong&gt; Clin. Genet. 28: 151-156, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4042397/&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;4042397&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1985.tb00375.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="4042397">Somer et al. (1985)</a> reported 2 sisters with severe muscular dystrophy from a family of 12 sibs with consanguineous parents. Muscle weakness began at ages 7 and 6 years, respectively. The symptoms progressed rapidly and the patients were confined to wheelchairs at ages 12 and 11 years, respectively. They both had mild facial weakness and pseudohypertrophy of the calves, but neither had cardiomyopathy or mental retardation. Serum creatine kinase levels exceeded upper normal limits by 70- to 85-fold. Both girls had a normal karyotype, and the clinical picture was indistinguishable from that of the X-linked form. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4042397" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#26" class="mim-tip-reference" title="Merlini, L., Kaplan, J.-C., Navarro, C., Barois, A., Bonneau, D., Brasa, J., Echenne, B., Gallano, P., Jarre, L., Jeanpierre, M., Kalaydjieva, L., Leturcq, F., Levi-Gomes, A., Toutain, A., Tournev, I., Urtizberea, A., Vallat, J.-M., Voit, T., Warter, J.-M. &lt;strong&gt;Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation.&lt;/strong&gt; Neurology 54: 1075-1079, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10720277/&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;10720277&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.54.5.1075&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="10720277">Merlini et al. (2000)</a> reported clinical homogeneity among the Romany Gypsies in western Europe with LGMD2C. All shared a common founder mutation (<a href="/entry/608896#0002">608896.0002</a>). Mean age at onset was 5.3 years. One-half of the patients lost ambulation by the age of 12; 13% could still walk after age 16. Calf hypertrophy, scapular winging, macroglossia, and lumbar lordosis were common. Girdle, trunk, and proximal limb muscles had earlier and more severe involvement. Cardiomyopathy was not observed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10720277" 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 study of 10 Gypsy patients with LGMD2C, <a href="#10" class="mim-tip-reference" title="Calvo, F., Teijeira, S., Fernandez, J. M., Teijeiro, A., Fernandez-Hojas, R., Fernandez-Lopez, X. A., Martin, E., Navarro, C. &lt;strong&gt;Evaluation of heart involvement in gamma-sarcoglycanopathy (LGMD2C): a study of ten patients.&lt;/strong&gt; Neuromusc. Disord. 10: 560-566, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11053682/&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;11053682&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0960-8966(00)00147-4&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="11053682">Calvo et al. (2000)</a> found evidence of subclinical cardiac involvement. Electrocardiographic and echocardiographic evaluation indicated mild right ventricular dysfunction. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11053682" 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>Duchenne muscular dystrophy is caused by mutation in the dystrophin gene (<a href="/entry/300377">300377</a>) on the X chromosome. Dystrophin is associated with a large oligomeric complex of sarcolemmal glycoproteins, the dystrophin-glycoprotein complex, which spans the sarcolemma to provide a link between the subsarcolemmal cytoskeleton and the extracellular matrix component, laminin (<a href="/entry/150320">150320</a>). In DMD, the absence of dystrophin leads to a large reduction in all of the dystrophin-associated proteins (<a href="#23" class="mim-tip-reference" title="Matsumura, K., Tome, F. M. S., Collin, H., Azibi, K., Chaouch, M., Kaplan, J.-C., Fardeau, M., Campbell, K. P. &lt;strong&gt;Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy.&lt;/strong&gt; Nature 359: 320-322, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1406935/&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;1406935&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/359320a0&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="1406935">Matsumura et al., 1992</a>). <a href="#7" class="mim-tip-reference" title="Ben Jelloun-Dellagi, S., Chaffey, P., Hentati, F., Ben Hamida, C., Tome, F., Colin, H., Dellagi, K., Kaplan, J. C., Fardeau, M., Ben Hamida, M. &lt;strong&gt;Presence of normal dystrophin in Tunisian severe childhood autosomal recessive muscular dystrophy.&lt;/strong&gt; Neurology 40: 1903, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2247244/&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;2247244&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.40.12.1903&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="2247244">Ben Jelloun-Dellagi et al. (1990)</a> demonstrated that the dystrophin protein is normal in the Tunisian form of autosomal recessive muscular dystrophy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1406935+2247244" 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="#39" class="mim-tip-reference" title="Vainzof, M., Pavanello, R. C. M., Pavanello-Filho, I., Rapaport, D., Passos-Bueno, M. R., Zubrzycka-Gaarn, E. E., Bulman, D. E., Zatz, M. &lt;strong&gt;Screening of male patients with autosomal recessive Duchenne dystrophy through dystrophin and DNA studies.&lt;/strong&gt; Am. J. Med. Genet. 39: 38-41, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1867262/&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;1867262&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320390110&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="1867262">Vainzof et al. (1991)</a> described a 7.5-year-old boy, born of consanguineous parents, with typical symptoms and clinical findings of DMD including hypertrophy of the calves, Gowers sign, and lordosis. Normal dystrophin immunostaining and the lack of DNA deletion with dystrophin probes excluded a diagnosis of X-linked DMD. The presence of normal dystrophin was confirmed by the concomitant use of 2 antibodies, one against the C-terminal region and one against the N-terminal region in Western blot analysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1867262" 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 patients with SCARMD, <a href="#23" class="mim-tip-reference" title="Matsumura, K., Tome, F. M. S., Collin, H., Azibi, K., Chaouch, M., Kaplan, J.-C., Fardeau, M., Campbell, K. P. &lt;strong&gt;Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy.&lt;/strong&gt; Nature 359: 320-322, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1406935/&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;1406935&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/359320a0&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="1406935">Matsumura et al. (1992)</a> demonstrated deficiency in the 50-kD subunit of the dystrophin-associated glycoprotein (DAG2 or DAG50), also referred to as adhalin or alpha-sarcoglycan (SGCA; <a href="/entry/600119">600119</a>). The authors concluded that the loss of adhalin is a common denominator of the pathologic process in DMD and SCARMD. <a href="#12" class="mim-tip-reference" title="El Kerch, F., Sefiani, A., Azibi, K., Boutaleb, N., Yahyaoui, M., Bentahila, A., Vinet, M.-C., Leturcq, F., Bachner, L., Beckmann, J., Campbell, K. P., Tome, F. M. S., Fardeau, M., Kaplan, J.-C. &lt;strong&gt;Linkage analysis of families with severe childhood autosomal recessive muscular dystrophy in Morocco indicates genetic homogeneity of the disease in North Africa.&lt;/strong&gt; J. Med. Genet. 31: 342-343, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8071965/&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;8071965&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.31.4.342&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="8071965">El Kerch et al. (1994)</a> found absence of DAG50 in a muscle biopsy from a patient with SCARMD. No abnormality of this protein was found in a variety of other neuromuscular disorders. <a href="#19" class="mim-tip-reference" title="Higuchi, I., Yamada, H., Fukunaga, H., Iwaki, H., Okubo, R., Nakagawa, M., Osame, M., Roberds, S. L., Shimizu, T., Campbell, K. P., Matsumura, K. &lt;strong&gt;Abnormal expression of laminin suggests disturbance of sarcolemma-extracellular matrix interaction in Japanese patients with autosomal recessive muscular dystrophy deficient in adhalin.&lt;/strong&gt; J. Clin. Invest. 94: 601-606, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8040315/&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;8040315&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1172/JCI117375&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="8040315">Higuchi et al. (1994)</a> noted that alpha-sarcoglycan deficiency had been demonstrated in 1 Greek, 1 Italian, 3 French (<a href="#13" class="mim-tip-reference" title="Fardeau, M., Matsumura, K., Tome, F. M. S., Collin, H., Leturcq, F., Kaplan, J.-C., Campbell, K. P. &lt;strong&gt;Deficiency of the 50 kDa dystrophin associated glycoprotein (adhalin) in severe autosomal recessive muscular dystrophies in children native from European countries.&lt;/strong&gt; C. R. Acad. Sci. Paris 316: 799-804, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8044705/&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;8044705&lt;/a&gt;]" pmid="8044705">Fardeau et al., 1993</a>), and 5 Brazilian (<a href="#29" class="mim-tip-reference" title="Passos-Bueno, M. R., Bakker, E., Marie, S. K., Pavanello, R. C., Vainzof, M., Carvalho, A. A., Cohen, D., Beckmann, J., Zatz, M. &lt;strong&gt;Exclusion of the 15q locus as a candidate gene for severe childhood autosomal recessive Duchenne-like muscular dystrophy in Brazilian families.&lt;/strong&gt; Hum. Molec. Genet. 2: 201-202, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8499908/&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;8499908&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/2.2.201&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="8499908">Passos-Bueno et al., 1993</a>) patients with severe muscular dystrophy. They reported for the first time 2 Japanese patients with adhalin deficiency. In addition, they demonstrated abnormal expression of laminin in the basal lamina surrounding muscle fibers, which implicated a disturbance of sarcolemma-extracellular matrix interaction in the molecular pathogenesis of muscle fiber necrosis in these patients. <a href="#32" class="mim-tip-reference" title="Piccolo, F., Roberds, S. L., Jeanpierre, M., Leturcq, F., Azibi, K., Beldjord, C., Carrie, A., Recan, D., Chaouch, M., Reghis, A., El Kerch, F., Sefiani, A., Voit, T., Merlini, L., Collin, H., Eymard, B., Beckmann, J. S., Romero, N. B., Tome, F. M. S., Fardeau, M., Campbell, K. P., Kaplan, J.-C. &lt;strong&gt;Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity.&lt;/strong&gt; Nature Genet. 10: 243-245, 1995. Note: Erratum: Nature Genet. 104 only, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7663524/&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;7663524&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng0695-243&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="7663524">Piccolo et al. (1995)</a> noted that there are 2 kinds of myopathies with adhalin deficiency: one with a primary defect of adhalin (LGMDR3; <a href="/entry/608099">608099</a>) caused by mutation in the SGCA gene, and those such as SCARMD in which absence of adhalin is secondary to mutation in another gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8499908+8071965+7663524+1406935+8040315+8044705" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#20" class="mim-tip-reference" title="Jung, D., Leturcq, F., Sunada, Y., Duclos, F., Tome, F. M. S., Moomaw, C., Merlini, L., Azibi, K., Chaouch, M., Slaughter, C., Fardeau, M., Kaplan, J.-C., Campbell, K. P. &lt;strong&gt;Absence of gamma-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12.&lt;/strong&gt; FEBS Lett. 381: 15-20, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8641426/&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;8641426&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0014-5793(96)00056-7&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="8641426">Jung et al. (1996)</a> produced specific antibodies against a gamma-sarcoglycan peptide and used them to examine the expression of this protein in skeletal muscle of patients with SCARMD. Immunofluorescence and Western blotting in skeletal muscle from these patients showed complete absence of gamma-sarcoglycan. Alpha- and beta-sarcoglycan were also greatly reduced, whereas other components of the dystrophin-glycoprotein complex were preserved. In addition, they showed that in normal muscle alpha-, beta-, and gamma-sarcoglycan constituted a tightly associated sarcolemmal complex that could not be disrupted by SDS treatment. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8641426" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 3 young girls, <a href="#18" class="mim-tip-reference" title="Hazama, R., Tsujihata, M., Mori, M., Mori, K. &lt;strong&gt;Muscular dystrophy in six young girls.&lt;/strong&gt; Neurology 29: 1486-1491, 1979.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/574202/&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;574202&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.29.11.1486&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="574202">Hazama et al. (1979)</a> reported autosomal recessive inheritance of progressive muscular dystrophy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=574202" 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="#15" class="mim-tip-reference" title="Goonewardena, P., Gustavson, K.-H., Gamstorp, I., Lundstrom, N.-R., Pettersson, U. &lt;strong&gt;A new type of muscular dystrophy in two brothers: analysis by use of DNA probes suggests autosomal recessive inheritance.&lt;/strong&gt; Clin. Genet. 34: 299-305, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3228998/&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;3228998&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1988.tb02882.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="3228998">Goonewardena et al. (1988)</a> used DNA probes to exclude linkage to the X chromosome in 2 brothers with muscular dystrophy. The authors suggested autosomal recessive inheritance of the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3228998" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="mapping" class="mim-anchor"></a>
<h4 href="#mimMappingFold" id="mimMappingToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<p>Linkage studies by <a href="#8" class="mim-tip-reference" title="Ben Othmane, K., Ben Hamida, M., Pericak-Vance, M. A., Ben Hamida, C., Blel, S., Carter, S. C., Bowcock, A. M., Petruhkin, K., Gilliam, T. C., Roses, A. D., Hentati, F., Vance, J. M. &lt;strong&gt;Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q.&lt;/strong&gt; Nature Genet. 2: 315-317, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1303286/&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;1303286&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1292-315&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="1303286">Ben Othmane et al. (1992)</a> using 3 consanguineous families from Tunisia demonstrated that the DMD-like disease locus was situated on chromosome 13p; 2 markers within 13q12 showed a lod score of 9.15 and 8.4 at theta = 0.03. In affected Algerian families, <a href="#2" class="mim-tip-reference" title="Azibi, K., Bachner, L., Beckmann, J. S., Matsumura, K., Hamouda, E., Chaouch, M., Chaouch, A., Ait-Ouarab, R., Vignal, A., Weissenbach, J., Vinet, M.-C., Leturcq, F., Collin, H., Tome, F. M. S., Reghis, A., Fardeau, M., Campbell, K. P., Kaplan, J.-C. &lt;strong&gt;Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12.&lt;/strong&gt; Hum. Molec. Genet. 2: 1423-1428, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8242065/&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;8242065&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/2.9.1423&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="8242065">Azibi et al. (1993)</a> confirmed the assignment of the mutant gene to proximal 13q. They identified 57 Algerian patients with the disorder, which they referred to as 'severe childhood autosomal recessive muscular dystrophy' (SCARMD). The patients belonged to 34 families, of which 29 had more than 1 affected member. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8242065+1303286" 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="El Kerch, F., Sefiani, A., Azibi, K., Boutaleb, N., Yahyaoui, M., Bentahila, A., Vinet, M.-C., Leturcq, F., Bachner, L., Beckmann, J., Campbell, K. P., Tome, F. M. S., Fardeau, M., Kaplan, J.-C. &lt;strong&gt;Linkage analysis of families with severe childhood autosomal recessive muscular dystrophy in Morocco indicates genetic homogeneity of the disease in North Africa.&lt;/strong&gt; J. Med. Genet. 31: 342-343, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8071965/&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;8071965&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.31.4.342&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="8071965">El Kerch et al. (1994)</a> found linkage homogeneity to 13q in affected patients from Morocco, Tunisia, and Algeria, 3 Maghreb countries with a high frequency of the disorder. <a href="#9" class="mim-tip-reference" title="Ben Othmane, K., Speer, M. C., Stauffer, J., Blel, S., Middleton, L., Ben Hamida, C., Etribi, A., Loeb, D., Hentati, F., Roses, A. D., Ben Hamida, M., Pericak-Vance, M. A., Vance, J. M. &lt;strong&gt;Evidence for linkage disequilibrium in chromosome 13-linked Duchenne-like muscular dystrophy (LGMD2C). (Letter)&lt;/strong&gt; Am. J. Hum. Genet. 57: 732-734, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7668303/&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;7668303&lt;/a&gt;]" pmid="7668303">Ben Othmane et al. (1995)</a> found that 6 Tunisian families and 1 Egyptian family with DMD-like muscular dystrophy showed linkage to the pericentromeric region of chromosome 13q (maximum lod score of 9.15 at D13S115). The authors stated that the Egyptian family was the first non-North African family to be linked to the 13q locus. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8071965+7668303" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Exclusion Mapping</em></strong></p><p>
<a href="#14" class="mim-tip-reference" title="Francke, U., Darras, B. T., Hersh, J. H., Berg, B. O., Miller, R. G. &lt;strong&gt;Brother/sister pairs affected with early-onset, progressive muscular dystrophy: molecular studies reveal etiologic heterogeneity.&lt;/strong&gt; Am. J. Hum. Genet. 45: 63-72, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2568091/&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;2568091&lt;/a&gt;]" pmid="2568091">Francke et al. (1989)</a> described 2 families in which a brother and sister were affected with early-onset progressive muscular dystrophy. The dystrophin gene did not appear to be involved in either family. In 1 family, the affected male was found to share the complete dystrophin RFLP haplotype with his unaffected brother, while his affected sister had inherited the other maternal haplotype. In the second family, no deletion of the DMD gene was detected in the affected male who shared a complete Xp21 haplotype with an unaffected sister, while the affected sister had inherited a recombinant Xp21 region. X-inactivation studies showed random inactivation in the affected girl's leukocytes. In a muscle biopsy from the affected male, the dystrophin protein was present in normal amount and size. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2568091" 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="Azibi, K., Chaouch, M., Reghis, A., Vinet, M.-C., Vignal, A., Becuwe, N., Beckman, J., Seboun, E., Nguyen, S., Cometto, M., Fardeau, M., Tome, R., Leturq, F., Chafey, P., Bachner, L., Kaplan, J.-C. &lt;strong&gt;Linkage analysis of 19 families with autosomal recessive (Duchenne-like) muscular dystrophy from Algeria. (Abstract)&lt;/strong&gt; Cytogenet. Cell Genet. 58: 1907, 1991."None>Azibi et al. (1991)</a> excluded linkage to the 6q22-q23 region that includes the dystrophin-related protein (<a href="/entry/128240">128240</a>) in 19 Algerian families with autosomal recessive DMD-like muscular dystrophy.</p><p>In a study of 4 Brazilian families with severe childhood autosomal recessive Duchenne-like muscular dystrophy, <a href="#29" class="mim-tip-reference" title="Passos-Bueno, M. R., Bakker, E., Marie, S. K., Pavanello, R. C., Vainzof, M., Carvalho, A. A., Cohen, D., Beckmann, J., Zatz, M. &lt;strong&gt;Exclusion of the 15q locus as a candidate gene for severe childhood autosomal recessive Duchenne-like muscular dystrophy in Brazilian families.&lt;/strong&gt; Hum. Molec. Genet. 2: 201-202, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8499908/&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;8499908&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/2.2.201&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="8499908">Passos-Bueno et al. (1993)</a> excluded linkage to markers on 15q which are associated with LGMD2A (LGMDR1; <a href="/entry/253600">253600</a>), a milder form of autosomal recessive LGMD with later onset. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8499908" 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 2 affected sibs from a Tunisian SCARMD family reported by <a href="#8" class="mim-tip-reference" title="Ben Othmane, K., Ben Hamida, M., Pericak-Vance, M. A., Ben Hamida, C., Blel, S., Carter, S. C., Bowcock, A. M., Petruhkin, K., Gilliam, T. C., Roses, A. D., Hentati, F., Vance, J. M. &lt;strong&gt;Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q.&lt;/strong&gt; Nature Genet. 2: 315-317, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1303286/&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;1303286&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1292-315&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="1303286">Ben Othmane et al. (1992)</a>, <a href="#28" class="mim-tip-reference" title="Noguchi, S., McNally, E. M., Ben Othmane, K., Hagiwara, Y., Mizuno, Y., Yoshida, M., Yamamoto, H., Bonnemann, C. G., Gussoni, E., Denton, P. H., Kyriakides, T., Middleton, L., Hentati, F., Ben Hamida, M., Nonaka, I., Vance, J. M., Kunkel, L. M., Ozawa, E. &lt;strong&gt;Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy.&lt;/strong&gt; Science 270: 819-821, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7481775/&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;7481775&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1126/science.270.5237.819&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="7481775">Noguchi et al. (1995)</a> identified a homozygous mutation in the SGCG gene (<a href="/entry/608896#0001">608896.0001</a>). The authors noted that the mutation not only affects gamma-sarcoglycan, but also disrupt the integrity of the entire sarcoglycan complex. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7481775+1303286" 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 4 of 50 muscular dystrophy patients from the U.S. and Italy, <a href="#25" class="mim-tip-reference" title="McNally, E. M., Duggan, D., Gorospe, J. R., Bonnemann, C. G., Fanin, M., Pegoraro, E., Lidov, H. G. W., Noguchi, S., Ozawa, E., Finkel, R. S., Cruse, R. P., Angelini, C., Kunkel, L. M., Hoffman, E. P. &lt;strong&gt;Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy.&lt;/strong&gt; Hum. Molec. Genet. 5: 1841-1847, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8923014/&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;8923014&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/5.11.1841&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="8923014">McNally et al. (1996)</a> identified 4 homozygous mutations in the SGCG gene (e.g., <a href="/entry/608896#0003">608896.0003</a>; <a href="/entry/608896#0004">608896.0004</a>; <a href="/entry/608896#0006">608896.0006</a>). They predicted that all 4 mutations lead to disruption of the reading frame of the protein. Microdeletions that disrupted the distal C terminus of gamma-sarcoglycan were identified in 2 of the 4 patients. These distal C-terminal deletions resulted in complete absence of gamma- and beta-sarcoglycan. <a href="#25" class="mim-tip-reference" title="McNally, E. M., Duggan, D., Gorospe, J. R., Bonnemann, C. G., Fanin, M., Pegoraro, E., Lidov, H. G. W., Noguchi, S., Ozawa, E., Finkel, R. S., Cruse, R. P., Angelini, C., Kunkel, L. M., Hoffman, E. P. &lt;strong&gt;Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy.&lt;/strong&gt; Hum. Molec. Genet. 5: 1841-1847, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8923014/&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;8923014&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/5.11.1841&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="8923014">McNally et al. (1996)</a> concluded that this region is important for the stability of the sarcoglycan complex. The 4 patients were partially deficient for alpha-sarcoglycan immunostaining. The authors suggested that a gamma-sarcoglycan antibody should also be used when initially evaluating patients with muscular dystrophy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8923014" 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="#31" class="mim-tip-reference" title="Piccolo, F., Jeanpierre, M., Leturcq, F., Dode, C., Azibi, K., Toutain, A., Merlini, L., Jarre, L., Navarro, C., Krishnamoorthy, R., Tome, F. M. S., Urtizberea, J. A., Beckmann, J. S., Campbell, K. P., Kaplan, J.-C. &lt;strong&gt;A founder mutation in the gamma-sarcoglycan gene of Gypsies possibly predating their migration out of India.&lt;/strong&gt; Hum. Molec. Genet. 5: 2019-2022, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8968757/&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;8968757&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/5.12.2019&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="8968757">Piccolo et al. (1996)</a> identified homozygosity for a mutation (<a href="/entry/608896#0002">608896.0002</a>) in the SGCG gene in 18 patients with LGMD2C from 7 large LGMD2C Gypsy families who had lived in France, Italy, and Spain for several generations. All affected chromosomes in homozygous and heterozygous relatives carried the same allele ('allele 5') of the intragenic marker D13S232. <a href="#31" class="mim-tip-reference" title="Piccolo, F., Jeanpierre, M., Leturcq, F., Dode, C., Azibi, K., Toutain, A., Merlini, L., Jarre, L., Navarro, C., Krishnamoorthy, R., Tome, F. M. S., Urtizberea, J. A., Beckmann, J. S., Campbell, K. P., Kaplan, J.-C. &lt;strong&gt;A founder mutation in the gamma-sarcoglycan gene of Gypsies possibly predating their migration out of India.&lt;/strong&gt; Hum. Molec. Genet. 5: 2019-2022, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8968757/&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;8968757&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/5.12.2019&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="8968757">Piccolo et al. (1996)</a> also delineated a common ancestral haplotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8968757" 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="#22" class="mim-tip-reference" title="Leal, G. F., Da-Silva, E. O. &lt;strong&gt;Limb-girdle muscular dystrophy with apparently different clinical courses within sexes in a large inbred kindred.&lt;/strong&gt; J. Med. Genet. 36: 714-718, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10507732/&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;10507732&lt;/a&gt;]" pmid="10507732">Leal and Da-Silva (1999)</a> reported a clinical and molecular analysis of a 5-generation Brazilian family with LGMD2C. Clinical severity varied according to sex, with males having significantly earlier onset of symptoms and age of confinement to a wheelchair. Mutation analysis confirmed that affected individuals had a mutation in the SGCG gene (<a href="/entry/608896#0001">608896.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10507732" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#38" class="mim-tip-reference" title="Trabelsi, M., Kavian, N., Daoud, F., Commere, V., Deburgrave, N., Beugnet, C., Llense, S., Barbot, J. C., Vasson, A., Kaplan, J. C., Leturcq, F., Chelly, J. &lt;strong&gt;Revised spectrum of mutations in sarcoglycanopathies.&lt;/strong&gt; Europ. J. Hum. Genet. 16: 793-803, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18285821/&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;18285821&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ejhg.2008.9&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18285821">Trabelsi et al. (2008)</a> identified biallelic mutations in sarcoglycan genes in 46 (67%) of 69 patients with a clinical diagnosis of autosomal recessive LGMD. Twenty-six (56.5%) patients had SGCA mutations, 8 (17.3%) had SGCB (<a href="/entry/600900">600900</a>) mutations, and 12 (26%) had SGCG mutations. Five of the 10 SGCG mutations identified were novel. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18285821" 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="genotypePhenotypeCorrelations" class="mim-anchor"></a>
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<p><a href="#1" class="mim-tip-reference" title="Alonso-Perez, J., Gonzalez-Quereda, L., Bello, L., Guglieri, M., Straub, V., Gallano, P., Semplicini, C., Pegoraro, E., Zangaro, V., Nascimento, A., Ortez, C., Comi, G. P., and 48 others. &lt;strong&gt;New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.&lt;/strong&gt; Brain 143: 2696-2708, 2020. Note: Erratum: Brain 146: e9, 2023.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/32875335/&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;32875335&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/brain/awaa228&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="32875335">Alonso-Perez et al. (2020)</a> reviewed genotype-phenotype correlations in 396 patients with a sarcoglycanopathy from 13 European countries, of whom 159 patients had a confirmed diagnosis of LGMDR3 (<a href="/entry/608099">608099</a>), 73 of LGMDR4 (<a href="/entry/604286">604286</a>), 157 of LGMDR5, and 7 of LGMDR6 (<a href="/entry/601287">601287</a>). Patients with LGMDR3 had a later onset and slower progression of the disease. Cardiac involvement was most frequent in LGMDR4. Onset of symptoms before 10 years of age and residual protein expression lower than 30% were identified as independent risk factors for losing ambulation before 18 years of age in LGMDR3, LGMDR4, and LGMDR5 patients. The most common mutations in LGMDR5 were c.525delT (<a href="/entry/608896#0001">608896.0001</a>) and c.848G-A. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32875335" 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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<p><a href="#40" class="mim-tip-reference" title="Zatz, M., Passos-Bueno, M. R., Rapaport, D. &lt;strong&gt;Estimate of the proportion of Duchenne muscular dystrophy with autosomal recessive inheritance.&lt;/strong&gt; Am. J. Med. Genet. 32: 407-410, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2658592/&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;2658592&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320320328&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="2658592">Zatz et al. (1989)</a> studied 470 families in which X-linked inheritance of muscular dystrophy could not be confirmed: 20 with at least 1 affected girl with a Duchenne-like phenotype and 450 with only affected boys. Based on the number of families with at least 1 affected girl and the number of patients per sibship in these pedigrees, the proportion of families with DMD inherited as an autosomal recessive trait was estimated at 6.8%. It was also estimated that 2.5 to 4% of isolated male cases of DMD may have the autosomal recessive form. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2658592" 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>By analysis of dystrophin in 50 males diagnosed with DMD, <a href="#39" class="mim-tip-reference" title="Vainzof, M., Pavanello, R. C. M., Pavanello-Filho, I., Rapaport, D., Passos-Bueno, M. R., Zubrzycka-Gaarn, E. E., Bulman, D. E., Zatz, M. &lt;strong&gt;Screening of male patients with autosomal recessive Duchenne dystrophy through dystrophin and DNA studies.&lt;/strong&gt; Am. J. Med. Genet. 39: 38-41, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1867262/&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;1867262&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320390110&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="1867262">Vainzof et al. (1991)</a> estimated that the frequency of autosomal recessive muscular dystrophy may be 8 to 12% among male patients diagnosed with DMD in whom X-linked inheritance could not be definitively established. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1867262" 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="#36" class="mim-tip-reference" title="Stec, I., Kress, W., Meng, G., Muller, B., Muller, C. R., Grimm, T. &lt;strong&gt;Estimate of severe autosomal recessive limb-girdle muscular dystrophy (LGMD2C, LGMD2D) among sporadic muscular dystrophy males: a study of 415 families.&lt;/strong&gt; J. Med. Genet. 32: 930-933, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8825917/&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;8825917&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.32.12.930&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="8825917">Stec et al. (1995)</a> examined a total of 415 families with at least 1 living male patient with clinical features suggesting Duchenne muscular dystrophy. Based on formal genetics, haplotype analysis, and dystrophin determinations, they estimated that 1 in 8 (11.8%) sporadic male patients suffer from an autosomal rather than an X-chromosomal mutation, most often LGMD2C or LGMD2D (LGMDR3; <a href="/entry/608099">608099</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8825917" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Hayashi, Y. K., Mizuno, Y., Yoshida, M., Nonaka, I., Ozawa, E., Arahata, K. &lt;strong&gt;The frequency of patients with 50-kd dystrophin-associated glycoprotein (50DAG or adhalin) deficiency in a muscular dystrophy patient population in Japan: immunocytochemical analysis of 50DAG, 43DAG, dystrophin, and utrophin.&lt;/strong&gt; Neurology 45: 551-554, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7898714/&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;7898714&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.45.3.551&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="7898714">Hayashi et al. (1995)</a> performed an immunocytochemical survey of muscle biopsies from 243 Japanese muscular dystrophy patients over 2.5 years. They identified 5 unrelated Japanese patients with adhalin deficiency manifesting as an extremely faint but positive staining of the sarcolemma similar to that described in the 13q-linked congenital muscular dystrophy prevalent in North Africa. From these data, they predicted the gene frequency for this deficiency in Japan to be between 0.1 and 0.2%, with a prevalence of the deficiency in the Japanese population to be about 1 x 10(-6). In their series, <a href="#17" class="mim-tip-reference" title="Hayashi, Y. K., Mizuno, Y., Yoshida, M., Nonaka, I., Ozawa, E., Arahata, K. &lt;strong&gt;The frequency of patients with 50-kd dystrophin-associated glycoprotein (50DAG or adhalin) deficiency in a muscular dystrophy patient population in Japan: immunocytochemical analysis of 50DAG, 43DAG, dystrophin, and utrophin.&lt;/strong&gt; Neurology 45: 551-554, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7898714/&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;7898714&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.45.3.551&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="7898714">Hayashi et al. (1995)</a> found this deficiency to account for only 4% of patients with DMD/BMD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7898714" 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="#31" class="mim-tip-reference" title="Piccolo, F., Jeanpierre, M., Leturcq, F., Dode, C., Azibi, K., Toutain, A., Merlini, L., Jarre, L., Navarro, C., Krishnamoorthy, R., Tome, F. M. S., Urtizberea, J. A., Beckmann, J. S., Campbell, K. P., Kaplan, J.-C. &lt;strong&gt;A founder mutation in the gamma-sarcoglycan gene of Gypsies possibly predating their migration out of India.&lt;/strong&gt; Hum. Molec. Genet. 5: 2019-2022, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8968757/&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;8968757&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/5.12.2019&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="8968757">Piccolo et al. (1996)</a> identified the C283Y SGCG mutation (<a href="/entry/608896#0002">608896.0002</a>) as a founder mutation in the Romany Gypsies of Europe, who are believed to have originated from northern Indian populations that arrived in Europe around 1100 A.D. Due to almost complete endogamy, they formed a genetically isolated community. By haplotype analysis, <a href="#31" class="mim-tip-reference" title="Piccolo, F., Jeanpierre, M., Leturcq, F., Dode, C., Azibi, K., Toutain, A., Merlini, L., Jarre, L., Navarro, C., Krishnamoorthy, R., Tome, F. M. S., Urtizberea, J. A., Beckmann, J. S., Campbell, K. P., Kaplan, J.-C. &lt;strong&gt;A founder mutation in the gamma-sarcoglycan gene of Gypsies possibly predating their migration out of India.&lt;/strong&gt; Hum. Molec. Genet. 5: 2019-2022, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8968757/&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;8968757&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/5.12.2019&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="8968757">Piccolo et al. (1996)</a> estimated that the C283Y mutation is at least 1,200 years old and predates the migration of the Gypsies out of northern India. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8968757" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#27" class="mim-tip-reference" title="Navarro, C., Teijeira, S. &lt;strong&gt;Neuromuscular disorders in the Gypsy ethnic group: a short review.&lt;/strong&gt; Acta Myol. 22: 11-14, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12966699/&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;12966699&lt;/a&gt;]" pmid="12966699">Navarro and Teijeira (2003)</a> provided a detailed review of neuromuscular disorders among the Romany Gypsies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12966699" 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="#4" class="mim-tip-reference" title="Azibi, K. &lt;strong&gt;Personal Communication.&lt;/strong&gt; Algiers, Algeria 8/1991."None>Azibi (1991)</a> referred to this disorder as Maghrebian autosomal recessive myopathy. The Maghreb, meaning 'west' in Arabic, represents the area of North Africa and particularly the coastal plain of Morocco, Algeria, Tunisia and Libya. It was referred to as Africa Minor in ancient times and at one time included Moorish Spain.</p>
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<p>Mice lacking gamma-sarcoglycan develop progressive muscular dystrophy similar to human muscular dystrophy. Without gamma-sarcoglycan, beta- and delta-sarcoglycan (<a href="/entry/601411">601411</a>) are unstable at the muscle membrane and alpha-sarcoglycan is severely reduced. The expression and localization of dystrophin, dystroglycan, and laminin-alpha-2 (<a href="/entry/156225">156225</a>), a mechanical link between the actin cytoskeleton and the extracellular matrix, appear to be unaffected by the loss of sarcoglycan. <a href="#16" class="mim-tip-reference" title="Hack, A. A., Cordier, L., Shoturma, D. I., Lam, M. Y., Sweeney, H. L., McNally, E. M. &lt;strong&gt;Muscle degeneration without mechanical injury in sarcoglycan deficiency.&lt;/strong&gt; Proc. Nat. Acad. Sci. 96: 10723-10728, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10485893/&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;10485893&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=10485893[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.96.19.10723&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="10485893">Hack et al. (1999)</a> assessed the functional integrity of this mechanical link and found that isolated muscles lacking gamma-sarcoglycan showed normal resistance to mechanical strain induced by eccentric muscle contraction. Sarcoglycan-deficient muscles also showed normal peak isometric and tetanic force generation. Furthermore, there was no evidence for contraction-induced injury in mice lacking gamma-sarcoglycan when they were subjected to an extended, rigorous exercise regimen. These findings demonstrated that mechanical weakness and contraction-induced muscle injury are not required for muscle degeneration and the dystrophic process. Thus, <a href="#16" class="mim-tip-reference" title="Hack, A. A., Cordier, L., Shoturma, D. I., Lam, M. Y., Sweeney, H. L., McNally, E. M. &lt;strong&gt;Muscle degeneration without mechanical injury in sarcoglycan deficiency.&lt;/strong&gt; Proc. Nat. Acad. Sci. 96: 10723-10728, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10485893/&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;10485893&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=10485893[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.96.19.10723&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="10485893">Hack et al. (1999)</a> concluded that a nonmechanical mechanism, perhaps involving some unknown signaling function, is likely to be involved in cases of muscular dystrophy in which sarcoglycan is deficient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10485893" 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 review, <a href="#33" class="mim-tip-reference" title="Shelton, G. D., Engvall, E. &lt;strong&gt;Canine and feline models of human inherited muscle diseases.&lt;/strong&gt; Neuromusc. Disord. 15: 127-138, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15694134/&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;15694134&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.nmd.2004.10.019&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="15694134">Shelton and Engvall (2005)</a> stated that canine models of sarcoglycanopathies had been reported in the Boston terrier, Cocker spaniel, and Chihuahua breeds. Although specific mutations in sarcoglycan genes had not yet been characterized, all 3 models showed absence of gamma-sarcoglycan in muscle tissue. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15694134" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Ben1980" class="mim-tip-reference" title="Ben Hamida, M., Marrakchi, D. &lt;strong&gt;Dystrophie musculaire progressive de type Duchenne en Tunisie: a propos de 13 familles et 31 cas d&#x27;une forme en apparence recessive autosomique.&lt;/strong&gt; J. Genet. Hum. 28: 1-9, 1980.">Ben Hamida and Marrakchi (1980)</a>; <a href="#Passos-Bueno1993" class="mim-tip-reference" title="Passos-Bueno, M. R., Oliveira, J. R., Bakker, E., Anderson, R. D., Marie, S. K. N., Vainzof, M., Roberds, S., Campbell, K. P., Zatz, M. &lt;strong&gt;Genetic heterogeneity for Duchenne-like muscular dystrophy (DLMD) based on linkage and 50 DAG analysis.&lt;/strong&gt; Hum. Molec. Genet. 2: 1945-1947, 1993.">Passos-Bueno et al. (1993)</a>
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<a id="Alonso-Perez2020" class="mim-anchor"></a>
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Alonso-Perez, J., Gonzalez-Quereda, L., Bello, L., Guglieri, M., Straub, V., Gallano, P., Semplicini, C., Pegoraro, E., Zangaro, V., Nascimento, A., Ortez, C., Comi, G. P., and 48 others.
<strong>New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.</strong>
Brain 143: 2696-2708, 2020. Note: Erratum: Brain 146: e9, 2023.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32875335/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32875335</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32875335" 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/brain/awaa228" target="_blank">Full Text</a>]
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Azibi, K., Bachner, L., Beckmann, J. S., Matsumura, K., Hamouda, E., Chaouch, M., Chaouch, A., Ait-Ouarab, R., Vignal, A., Weissenbach, J., Vinet, M.-C., Leturcq, F., Collin, H., Tome, F. M. S., Reghis, A., Fardeau, M., Campbell, K. P., Kaplan, J.-C.
<strong>Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12.</strong>
Hum. Molec. Genet. 2: 1423-1428, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8242065/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8242065</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8242065" 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/2.9.1423" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/mus.880060702" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/wnl.40.12.1903" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/ng1292-315" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0960-8966(00)00147-4" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/brain/83.3.432" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.31.4.342" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1988.tb02882.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.96.19.10723" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/5.11.1841" target="_blank">Full Text</a>]
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Merlini, L., Kaplan, J.-C., Navarro, C., Barois, A., Bonneau, D., Brasa, J., Echenne, B., Gallano, P., Jarre, L., Jeanpierre, M., Kalaydjieva, L., Leturcq, F., Levi-Gomes, A., Toutain, A., Tournev, I., Urtizberea, A., Vallat, J.-M., Voit, T., Warter, J.-M.
<strong>Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation.</strong>
Neurology 54: 1075-1079, 2000.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10720277/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10720277</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10720277" 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.54.5.1075" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="27" class="mim-anchor"></a>
<a id="Navarro2003" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Navarro, C., Teijeira, S.
<strong>Neuromuscular disorders in the Gypsy ethnic group: a short review.</strong>
Acta Myol. 22: 11-14, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12966699/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12966699</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12966699" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="28" class="mim-anchor"></a>
<a id="Noguchi1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Noguchi, S., McNally, E. M., Ben Othmane, K., Hagiwara, Y., Mizuno, Y., Yoshida, M., Yamamoto, H., Bonnemann, C. G., Gussoni, E., Denton, P. H., Kyriakides, T., Middleton, L., Hentati, F., Ben Hamida, M., Nonaka, I., Vance, J. M., Kunkel, L. M., Ozawa, E.
<strong>Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy.</strong>
Science 270: 819-821, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7481775/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7481775</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7481775" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1126/science.270.5237.819" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="29" class="mim-anchor"></a>
<a id="Passos-Bueno1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Passos-Bueno, M. R., Bakker, E., Marie, S. K., Pavanello, R. C., Vainzof, M., Carvalho, A. A., Cohen, D., Beckmann, J., Zatz, M.
<strong>Exclusion of the 15q locus as a candidate gene for severe childhood autosomal recessive Duchenne-like muscular dystrophy in Brazilian families.</strong>
Hum. Molec. Genet. 2: 201-202, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8499908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8499908</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8499908" 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/2.2.201" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="30" class="mim-anchor"></a>
<a id="Passos-Bueno1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Passos-Bueno, M. R., Oliveira, J. R., Bakker, E., Anderson, R. D., Marie, S. K. N., Vainzof, M., Roberds, S., Campbell, K. P., Zatz, M.
<strong>Genetic heterogeneity for Duchenne-like muscular dystrophy (DLMD) based on linkage and 50 DAG analysis.</strong>
Hum. Molec. Genet. 2: 1945-1947, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8281158/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8281158</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8281158" 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/2.11.1945" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="31" class="mim-anchor"></a>
<a id="Piccolo1996" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Piccolo, F., Jeanpierre, M., Leturcq, F., Dode, C., Azibi, K., Toutain, A., Merlini, L., Jarre, L., Navarro, C., Krishnamoorthy, R., Tome, F. M. S., Urtizberea, J. A., Beckmann, J. S., Campbell, K. P., Kaplan, J.-C.
<strong>A founder mutation in the gamma-sarcoglycan gene of Gypsies possibly predating their migration out of India.</strong>
Hum. Molec. Genet. 5: 2019-2022, 1996.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8968757/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8968757</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8968757" 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/5.12.2019" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="32" class="mim-anchor"></a>
<a id="Piccolo1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Piccolo, F., Roberds, S. L., Jeanpierre, M., Leturcq, F., Azibi, K., Beldjord, C., Carrie, A., Recan, D., Chaouch, M., Reghis, A., El Kerch, F., Sefiani, A., Voit, T., Merlini, L., Collin, H., Eymard, B., Beckmann, J. S., Romero, N. B., Tome, F. M. S., Fardeau, M., Campbell, K. P., Kaplan, J.-C.
<strong>Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity.</strong>
Nature Genet. 10: 243-245, 1995. Note: Erratum: Nature Genet. 104 only, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7663524/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7663524</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7663524" 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/ng0695-243" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="33" class="mim-anchor"></a>
<a id="Shelton2005" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Shelton, G. D., Engvall, E.
<strong>Canine and feline models of human inherited muscle diseases.</strong>
Neuromusc. Disord. 15: 127-138, 2005.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15694134/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15694134</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15694134" 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.2004.10.019" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="34" class="mim-anchor"></a>
<a id="Skyring1961" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Skyring, A. P., McKusick, V. A.
<strong>Clinical, genetic and electrocardiographic studies in childhood muscular dystrophy.</strong>
Am. J. Med. Sci. 242: 534-547, 1961.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13913764/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13913764</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13913764" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1097/00000441-196111000-00002" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="35" class="mim-anchor"></a>
<a id="Somer1985" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Somer, H., Voutilainen, A., Knuutila, S., Kaitila, I., Rapola, J., Leinonen, H.
<strong>Duchenne-like muscular dystrophy in two sisters with normal karyotypes: evidence for autosomal recessive inheritance.</strong>
Clin. Genet. 28: 151-156, 1985.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4042397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4042397</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4042397" 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.1399-0004.1985.tb00375.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="36" class="mim-anchor"></a>
<a id="Stec1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Stec, I., Kress, W., Meng, G., Muller, B., Muller, C. R., Grimm, T.
<strong>Estimate of severe autosomal recessive limb-girdle muscular dystrophy (LGMD2C, LGMD2D) among sporadic muscular dystrophy males: a study of 415 families.</strong>
J. Med. Genet. 32: 930-933, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8825917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8825917</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8825917" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.32.12.930" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="37" class="mim-anchor"></a>
<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>]
</p>
</div>
</li>
<li>
<a id="38" class="mim-anchor"></a>
<a id="Trabelsi2008" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Trabelsi, M., Kavian, N., Daoud, F., Commere, V., Deburgrave, N., Beugnet, C., Llense, S., Barbot, J. C., Vasson, A., Kaplan, J. C., Leturcq, F., Chelly, J.
<strong>Revised spectrum of mutations in sarcoglycanopathies.</strong>
Europ. J. Hum. Genet. 16: 793-803, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18285821/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18285821</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18285821" 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.2008.9" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="39" class="mim-anchor"></a>
<a id="Vainzof1991" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Vainzof, M., Pavanello, R. C. M., Pavanello-Filho, I., Rapaport, D., Passos-Bueno, M. R., Zubrzycka-Gaarn, E. E., Bulman, D. E., Zatz, M.
<strong>Screening of male patients with autosomal recessive Duchenne dystrophy through dystrophin and DNA studies.</strong>
Am. J. Med. Genet. 39: 38-41, 1991.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1867262/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1867262</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1867262" 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.1320390110" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="40" class="mim-anchor"></a>
<a id="Zatz1989" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Zatz, M., Passos-Bueno, M. R., Rapaport, D.
<strong>Estimate of the proportion of Duchenne muscular dystrophy with autosomal recessive inheritance.</strong>
Am. J. Med. Genet. 32: 407-410, 1989.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2658592/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2658592</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2658592" 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.1320320328" target="_blank">Full Text</a>]
</p>
</div>
</li>
</ol>
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</div>
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<div>
<a id="contributors" class="mim-anchor"></a>
<div class="row">
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
<span class="mim-text-font">
<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Carol A. Bocchini - updated : 10/17/2022
</span>
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<div class="row collapse" id="mimCollapseContributors">
<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Cassandra L. Kniffin - updated : 1/23/2009<br>Cassandra L. Kniffin - updated : 1/11/2006<br>Cassandra L. Kniffin - reorganized : 9/10/2004<br>George E. Tiller - updated : 10/26/2000<br>Victor A. McKusick - updated : 8/17/2000<br>Michael J. Wright - updated : 12/16/1999<br>Victor A. McKusick - updated : 11/8/1999<br>Victor A. McKusick - updated : 7/22/1999<br>Victor A. McKusick - updated : 10/2/1998<br>Moyra Smith - updated : 1/31/1997<br>Moyra Smith - updated : 1/27/1997<br>Orest Hurko - updated : 8/15/1995
</span>
</div>
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<div>
<a id="creationDate" class="mim-anchor"></a>
<div class="row">
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
<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>
<a id="editHistory" class="mim-anchor"></a>
<div class="row">
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
<span class="text-nowrap mim-text-font">
<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
</span>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
carol : 06/09/2023
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<div class="row collapse" id="mimCollapseEditHistory">
<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
carol : 01/21/2023<br>carol : 10/18/2022<br>carol : 10/17/2022<br>carol : 09/27/2018<br>carol : 09/26/2018<br>carol : 09/25/2018<br>joanna : 08/04/2016<br>carol : 06/01/2016<br>wwang : 7/21/2009<br>wwang : 1/30/2009<br>ckniffin : 1/23/2009<br>alopez : 5/31/2007<br>wwang : 1/18/2006<br>ckniffin : 1/11/2006<br>terry : 7/11/2005<br>tkritzer : 9/16/2004<br>terry : 9/14/2004<br>carol : 9/10/2004<br>ckniffin : 9/8/2004<br>alopez : 3/17/2004<br>ckniffin : 2/27/2003<br>carol : 2/27/2003<br>cwells : 3/13/2002<br>mcapotos : 11/3/2000<br>mcapotos : 10/26/2000<br>carol : 8/18/2000<br>terry : 8/17/2000<br>alopez : 12/16/1999<br>alopez : 12/16/1999<br>mgross : 11/8/1999<br>jlewis : 8/2/1999<br>terry : 7/22/1999<br>alopez : 4/9/1999<br>alopez : 4/9/1999<br>carol : 10/8/1998<br>terry : 10/2/1998<br>carol : 6/26/1998<br>carol : 6/26/1998<br>dkim : 6/26/1998<br>terry : 7/10/1997<br>jenny : 4/4/1997<br>terry : 2/6/1997<br>mark : 1/31/1997<br>terry : 1/31/1997<br>mark : 1/31/1997<br>mark : 1/31/1997<br>mark : 1/30/1997<br>terry : 1/30/1997<br>terry : 1/28/1997<br>mark : 1/27/1997<br>mark : 1/27/1997<br>mark : 5/9/1996<br>terry : 5/2/1996<br>mimman : 2/8/1996<br>mark : 1/21/1996<br>mark : 1/20/1996<br>mark : 1/19/1996<br>mark : 11/2/1995<br>carol : 11/3/1994<br>warfield : 4/15/1994<br>carol : 11/5/1993<br>carol : 10/7/1993
</span>
</div>
</div>
</div>
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</div>
<div class="container visible-print-block">
<div class="row">
<div class="col-md-8 col-md-offset-1">
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<h3>
<span class="mim-font">
<strong>#</strong> 253700
</span>
</h3>
</div>
<div>
<h3>
<span class="mim-font">
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5; LGMDR5
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<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 2C; LGMD2C<br />
MUSCULAR DYSTROPHY, DUCHENNE-LIKE<br />
DUCHENNE-LIKE MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE, TYPE 1; DMDA1<br />
DMDA<br />
ADHALIN DEFICIENCY, SECONDARY<br />
SARCOGLYCAN, GAMMA, DEFICIENCY OF<br />
SEVERE CHILDHOOD AUTOSOMAL RECESSIVE MUSCULAR DYSTROPHY, NORTH AFRICAN TYPE; SCARMD<br />
MAGHREBIAN MYOPATHY
</span>
</h4>
</div>
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<div>
<br />
</div>
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<div>
<p>
<span class="mim-text-font">
<strong>ICD10CM:</strong> G71.0349; &nbsp;
<strong>ORPHA:</strong> 353; &nbsp;
<strong>DO:</strong> 0110277; &nbsp;
</span>
</p>
</div>
<div>
<br />
</div>
<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">
13q12.12
</span>
</td>
<td>
<span class="mim-font">
Muscular dystrophy, limb-girdle, autosomal recessive 5
</span>
</td>
<td>
<span class="mim-font">
253700
</span>
</td>
<td>
<span class="mim-font">
Autosomal recessive
</span>
</td>
<td>
<span class="mim-font">
3
</span>
</td>
<td>
<span class="mim-font">
SGCG
</span>
</td>
<td>
<span class="mim-font">
608896
</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 autosomal recessive limb-girdle muscular dystrophy-5 (LGMDR5) is caused by homozygous mutation in the gamma-sarcoglycan gene (SGCG; 608896) on chromosome 13q12.</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, LGMD2C was renamed LGMDR5. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Clinical Features</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Autosomal recessive inheritance of a muscular dystrophy resembling X-linked Duchenne muscular dystrophy (DMD; 310200) was reported by Kloepfer and Talley (1958), Dubowitz (1960), and Skyring and McKusick (1961), among others. The clinical course was characterized by onset before age 5 years, confinement to wheelchair by 12 years, and death usually before age 20 years. Pseudohypertrophy was present. Skyring and McKusick (1961) suggested that the signs of cardiac involvement present in the X-linked form may be lacking in the autosomal variety. </p><p>McKusick (1971) had the opportunity to restudy 2 affected sibs reported by Kloepfer and Talley (1958). At that time, the 30-year-old sister had evidence of cardiac involvement with chronic congestive heart failure, and the 27-year-old brother had arrhythmia with coronary sinus rhythm by electrocardiogram. The sister had 2 children, aged 6 and 4 years. </p><p>Ben Hamida et al. (1983) reported 93 children with a form of autosomal recessive, severe, progressive muscular dystrophy unusually frequent in Tunisia. Of the 93 cases, 75 came from 17 families with affected persons of both sexes and the other 18 came from 11 families with only girls affected. The 28 kindreds included 45 pairs of parents with myopathic children. Over three-fourths of the parental pairs were closely consanguineous, compared with consanguinity rates of 16 to 23% in the general population. Inability to walk occurred between ages 10 and 20. The serum creatine kinase was markedly raised in the early stages of disease. Muscle wasting affected mainly limb girdle and truncal muscles; calf muscle hypertrophy was usually present. </p><p>Somer et al. (1985) reported 2 sisters with severe muscular dystrophy from a family of 12 sibs with consanguineous parents. Muscle weakness began at ages 7 and 6 years, respectively. The symptoms progressed rapidly and the patients were confined to wheelchairs at ages 12 and 11 years, respectively. They both had mild facial weakness and pseudohypertrophy of the calves, but neither had cardiomyopathy or mental retardation. Serum creatine kinase levels exceeded upper normal limits by 70- to 85-fold. Both girls had a normal karyotype, and the clinical picture was indistinguishable from that of the X-linked form. </p><p>Merlini et al. (2000) reported clinical homogeneity among the Romany Gypsies in western Europe with LGMD2C. All shared a common founder mutation (608896.0002). Mean age at onset was 5.3 years. One-half of the patients lost ambulation by the age of 12; 13% could still walk after age 16. Calf hypertrophy, scapular winging, macroglossia, and lumbar lordosis were common. Girdle, trunk, and proximal limb muscles had earlier and more severe involvement. Cardiomyopathy was not observed. </p><p>In a study of 10 Gypsy patients with LGMD2C, Calvo et al. (2000) found evidence of subclinical cardiac involvement. Electrocardiographic and echocardiographic evaluation indicated mild right ventricular dysfunction. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Other Features</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Duchenne muscular dystrophy is caused by mutation in the dystrophin gene (300377) on the X chromosome. Dystrophin is associated with a large oligomeric complex of sarcolemmal glycoproteins, the dystrophin-glycoprotein complex, which spans the sarcolemma to provide a link between the subsarcolemmal cytoskeleton and the extracellular matrix component, laminin (150320). In DMD, the absence of dystrophin leads to a large reduction in all of the dystrophin-associated proteins (Matsumura et al., 1992). Ben Jelloun-Dellagi et al. (1990) demonstrated that the dystrophin protein is normal in the Tunisian form of autosomal recessive muscular dystrophy. </p><p>Vainzof et al. (1991) described a 7.5-year-old boy, born of consanguineous parents, with typical symptoms and clinical findings of DMD including hypertrophy of the calves, Gowers sign, and lordosis. Normal dystrophin immunostaining and the lack of DNA deletion with dystrophin probes excluded a diagnosis of X-linked DMD. The presence of normal dystrophin was confirmed by the concomitant use of 2 antibodies, one against the C-terminal region and one against the N-terminal region in Western blot analysis. </p><p>In patients with SCARMD, Matsumura et al. (1992) demonstrated deficiency in the 50-kD subunit of the dystrophin-associated glycoprotein (DAG2 or DAG50), also referred to as adhalin or alpha-sarcoglycan (SGCA; 600119). The authors concluded that the loss of adhalin is a common denominator of the pathologic process in DMD and SCARMD. El Kerch et al. (1994) found absence of DAG50 in a muscle biopsy from a patient with SCARMD. No abnormality of this protein was found in a variety of other neuromuscular disorders. Higuchi et al. (1994) noted that alpha-sarcoglycan deficiency had been demonstrated in 1 Greek, 1 Italian, 3 French (Fardeau et al., 1993), and 5 Brazilian (Passos-Bueno et al., 1993) patients with severe muscular dystrophy. They reported for the first time 2 Japanese patients with adhalin deficiency. In addition, they demonstrated abnormal expression of laminin in the basal lamina surrounding muscle fibers, which implicated a disturbance of sarcolemma-extracellular matrix interaction in the molecular pathogenesis of muscle fiber necrosis in these patients. Piccolo et al. (1995) noted that there are 2 kinds of myopathies with adhalin deficiency: one with a primary defect of adhalin (LGMDR3; 608099) caused by mutation in the SGCA gene, and those such as SCARMD in which absence of adhalin is secondary to mutation in another gene. </p><p>Jung et al. (1996) produced specific antibodies against a gamma-sarcoglycan peptide and used them to examine the expression of this protein in skeletal muscle of patients with SCARMD. Immunofluorescence and Western blotting in skeletal muscle from these patients showed complete absence of gamma-sarcoglycan. Alpha- and beta-sarcoglycan were also greatly reduced, whereas other components of the dystrophin-glycoprotein complex were preserved. In addition, they showed that in normal muscle alpha-, beta-, and gamma-sarcoglycan constituted a tightly associated sarcolemmal complex that could not be disrupted by SDS treatment. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Inheritance</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In 3 young girls, Hazama et al. (1979) reported autosomal recessive inheritance of progressive muscular dystrophy. </p><p>Goonewardena et al. (1988) used DNA probes to exclude linkage to the X chromosome in 2 brothers with muscular dystrophy. The authors suggested autosomal recessive inheritance of the disorder. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Mapping</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Linkage studies by Ben Othmane et al. (1992) using 3 consanguineous families from Tunisia demonstrated that the DMD-like disease locus was situated on chromosome 13p; 2 markers within 13q12 showed a lod score of 9.15 and 8.4 at theta = 0.03. In affected Algerian families, Azibi et al. (1993) confirmed the assignment of the mutant gene to proximal 13q. They identified 57 Algerian patients with the disorder, which they referred to as 'severe childhood autosomal recessive muscular dystrophy' (SCARMD). The patients belonged to 34 families, of which 29 had more than 1 affected member. </p><p>El Kerch et al. (1994) found linkage homogeneity to 13q in affected patients from Morocco, Tunisia, and Algeria, 3 Maghreb countries with a high frequency of the disorder. Ben Othmane et al. (1995) found that 6 Tunisian families and 1 Egyptian family with DMD-like muscular dystrophy showed linkage to the pericentromeric region of chromosome 13q (maximum lod score of 9.15 at D13S115). The authors stated that the Egyptian family was the first non-North African family to be linked to the 13q locus. </p><p><strong><em>Exclusion Mapping</em></strong></p><p>
Francke et al. (1989) described 2 families in which a brother and sister were affected with early-onset progressive muscular dystrophy. The dystrophin gene did not appear to be involved in either family. In 1 family, the affected male was found to share the complete dystrophin RFLP haplotype with his unaffected brother, while his affected sister had inherited the other maternal haplotype. In the second family, no deletion of the DMD gene was detected in the affected male who shared a complete Xp21 haplotype with an unaffected sister, while the affected sister had inherited a recombinant Xp21 region. X-inactivation studies showed random inactivation in the affected girl's leukocytes. In a muscle biopsy from the affected male, the dystrophin protein was present in normal amount and size. </p><p>Azibi et al. (1991) excluded linkage to the 6q22-q23 region that includes the dystrophin-related protein (128240) in 19 Algerian families with autosomal recessive DMD-like muscular dystrophy.</p><p>In a study of 4 Brazilian families with severe childhood autosomal recessive Duchenne-like muscular dystrophy, Passos-Bueno et al. (1993) excluded linkage to markers on 15q which are associated with LGMD2A (LGMDR1; 253600), a milder form of autosomal recessive LGMD with later onset. </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 2 affected sibs from a Tunisian SCARMD family reported by Ben Othmane et al. (1992), Noguchi et al. (1995) identified a homozygous mutation in the SGCG gene (608896.0001). The authors noted that the mutation not only affects gamma-sarcoglycan, but also disrupt the integrity of the entire sarcoglycan complex. </p><p>In 4 of 50 muscular dystrophy patients from the U.S. and Italy, McNally et al. (1996) identified 4 homozygous mutations in the SGCG gene (e.g., 608896.0003; 608896.0004; 608896.0006). They predicted that all 4 mutations lead to disruption of the reading frame of the protein. Microdeletions that disrupted the distal C terminus of gamma-sarcoglycan were identified in 2 of the 4 patients. These distal C-terminal deletions resulted in complete absence of gamma- and beta-sarcoglycan. McNally et al. (1996) concluded that this region is important for the stability of the sarcoglycan complex. The 4 patients were partially deficient for alpha-sarcoglycan immunostaining. The authors suggested that a gamma-sarcoglycan antibody should also be used when initially evaluating patients with muscular dystrophy. </p><p>Piccolo et al. (1996) identified homozygosity for a mutation (608896.0002) in the SGCG gene in 18 patients with LGMD2C from 7 large LGMD2C Gypsy families who had lived in France, Italy, and Spain for several generations. All affected chromosomes in homozygous and heterozygous relatives carried the same allele ('allele 5') of the intragenic marker D13S232. Piccolo et al. (1996) also delineated a common ancestral haplotype. </p><p>Leal and Da-Silva (1999) reported a clinical and molecular analysis of a 5-generation Brazilian family with LGMD2C. Clinical severity varied according to sex, with males having significantly earlier onset of symptoms and age of confinement to a wheelchair. Mutation analysis confirmed that affected individuals had a mutation in the SGCG gene (608896.0001). </p><p>Trabelsi et al. (2008) identified biallelic mutations in sarcoglycan genes in 46 (67%) of 69 patients with a clinical diagnosis of autosomal recessive LGMD. Twenty-six (56.5%) patients had SGCA mutations, 8 (17.3%) had SGCB (600900) mutations, and 12 (26%) had SGCG mutations. Five of the 10 SGCG mutations identified were novel. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Genotype/Phenotype Correlations</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Alonso-Perez et al. (2020) reviewed genotype-phenotype correlations in 396 patients with a sarcoglycanopathy from 13 European countries, of whom 159 patients had a confirmed diagnosis of LGMDR3 (608099), 73 of LGMDR4 (604286), 157 of LGMDR5, and 7 of LGMDR6 (601287). Patients with LGMDR3 had a later onset and slower progression of the disease. Cardiac involvement was most frequent in LGMDR4. Onset of symptoms before 10 years of age and residual protein expression lower than 30% were identified as independent risk factors for losing ambulation before 18 years of age in LGMDR3, LGMDR4, and LGMDR5 patients. The most common mutations in LGMDR5 were c.525delT (608896.0001) and c.848G-A. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Population Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Zatz et al. (1989) studied 470 families in which X-linked inheritance of muscular dystrophy could not be confirmed: 20 with at least 1 affected girl with a Duchenne-like phenotype and 450 with only affected boys. Based on the number of families with at least 1 affected girl and the number of patients per sibship in these pedigrees, the proportion of families with DMD inherited as an autosomal recessive trait was estimated at 6.8%. It was also estimated that 2.5 to 4% of isolated male cases of DMD may have the autosomal recessive form. </p><p>By analysis of dystrophin in 50 males diagnosed with DMD, Vainzof et al. (1991) estimated that the frequency of autosomal recessive muscular dystrophy may be 8 to 12% among male patients diagnosed with DMD in whom X-linked inheritance could not be definitively established. </p><p>Stec et al. (1995) examined a total of 415 families with at least 1 living male patient with clinical features suggesting Duchenne muscular dystrophy. Based on formal genetics, haplotype analysis, and dystrophin determinations, they estimated that 1 in 8 (11.8%) sporadic male patients suffer from an autosomal rather than an X-chromosomal mutation, most often LGMD2C or LGMD2D (LGMDR3; 608099). </p><p>Hayashi et al. (1995) performed an immunocytochemical survey of muscle biopsies from 243 Japanese muscular dystrophy patients over 2.5 years. They identified 5 unrelated Japanese patients with adhalin deficiency manifesting as an extremely faint but positive staining of the sarcolemma similar to that described in the 13q-linked congenital muscular dystrophy prevalent in North Africa. From these data, they predicted the gene frequency for this deficiency in Japan to be between 0.1 and 0.2%, with a prevalence of the deficiency in the Japanese population to be about 1 x 10(-6). In their series, Hayashi et al. (1995) found this deficiency to account for only 4% of patients with DMD/BMD. </p><p>Piccolo et al. (1996) identified the C283Y SGCG mutation (608896.0002) as a founder mutation in the Romany Gypsies of Europe, who are believed to have originated from northern Indian populations that arrived in Europe around 1100 A.D. Due to almost complete endogamy, they formed a genetically isolated community. By haplotype analysis, Piccolo et al. (1996) estimated that the C283Y mutation is at least 1,200 years old and predates the migration of the Gypsies out of northern India. </p><p>Navarro and Teijeira (2003) provided a detailed review of neuromuscular disorders among the Romany Gypsies. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>History</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Azibi (1991) referred to this disorder as Maghrebian autosomal recessive myopathy. The Maghreb, meaning 'west' in Arabic, represents the area of North Africa and particularly the coastal plain of Morocco, Algeria, Tunisia and Libya. It was referred to as Africa Minor in ancient times and at one time included Moorish Spain.</p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Animal Model</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Mice lacking gamma-sarcoglycan develop progressive muscular dystrophy similar to human muscular dystrophy. Without gamma-sarcoglycan, beta- and delta-sarcoglycan (601411) are unstable at the muscle membrane and alpha-sarcoglycan is severely reduced. The expression and localization of dystrophin, dystroglycan, and laminin-alpha-2 (156225), a mechanical link between the actin cytoskeleton and the extracellular matrix, appear to be unaffected by the loss of sarcoglycan. Hack et al. (1999) assessed the functional integrity of this mechanical link and found that isolated muscles lacking gamma-sarcoglycan showed normal resistance to mechanical strain induced by eccentric muscle contraction. Sarcoglycan-deficient muscles also showed normal peak isometric and tetanic force generation. Furthermore, there was no evidence for contraction-induced injury in mice lacking gamma-sarcoglycan when they were subjected to an extended, rigorous exercise regimen. These findings demonstrated that mechanical weakness and contraction-induced muscle injury are not required for muscle degeneration and the dystrophic process. Thus, Hack et al. (1999) concluded that a nonmechanical mechanism, perhaps involving some unknown signaling function, is likely to be involved in cases of muscular dystrophy in which sarcoglycan is deficient. </p><p>In a review, Shelton and Engvall (2005) stated that canine models of sarcoglycanopathies had been reported in the Boston terrier, Cocker spaniel, and Chihuahua breeds. Although specific mutations in sarcoglycan genes had not yet been characterized, all 3 models showed absence of gamma-sarcoglycan in muscle tissue. </p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>See Also:</strong>
</span>
</h4>
<span class="mim-text-font">
Ben Hamida and Marrakchi (1980); Passos-Bueno et al. (1993)
</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">
Alonso-Perez, J., Gonzalez-Quereda, L., Bello, L., Guglieri, M., Straub, V., Gallano, P., Semplicini, C., Pegoraro, E., Zangaro, V., Nascimento, A., Ortez, C., Comi, G. P., and 48 others.
<strong>New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.</strong>
Brain 143: 2696-2708, 2020. Note: Erratum: Brain 146: e9, 2023.
[PubMed: 32875335]
[Full Text: https://doi.org/10.1093/brain/awaa228]
</p>
</li>
<li>
<p class="mim-text-font">
Azibi, K., Bachner, L., Beckmann, J. S., Matsumura, K., Hamouda, E., Chaouch, M., Chaouch, A., Ait-Ouarab, R., Vignal, A., Weissenbach, J., Vinet, M.-C., Leturcq, F., Collin, H., Tome, F. M. S., Reghis, A., Fardeau, M., Campbell, K. P., Kaplan, J.-C.
<strong>Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12.</strong>
Hum. Molec. Genet. 2: 1423-1428, 1993.
[PubMed: 8242065]
[Full Text: https://doi.org/10.1093/hmg/2.9.1423]
</p>
</li>
<li>
<p class="mim-text-font">
Azibi, K., Chaouch, M., Reghis, A., Vinet, M.-C., Vignal, A., Becuwe, N., Beckman, J., Seboun, E., Nguyen, S., Cometto, M., Fardeau, M., Tome, R., Leturq, F., Chafey, P., Bachner, L., Kaplan, J.-C.
<strong>Linkage analysis of 19 families with autosomal recessive (Duchenne-like) muscular dystrophy from Algeria. (Abstract)</strong>
Cytogenet. Cell Genet. 58: 1907, 1991.
</p>
</li>
<li>
<p class="mim-text-font">
Azibi, K.
<strong>Personal Communication.</strong>
Algiers, Algeria 8/1991.
</p>
</li>
<li>
<p class="mim-text-font">
Ben Hamida, M., Fardeau, M., Attia, N.
<strong>Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia.</strong>
Muscle Nerve 6: 469-480, 1983.
[PubMed: 6633560]
[Full Text: https://doi.org/10.1002/mus.880060702]
</p>
</li>
<li>
<p class="mim-text-font">
Ben Hamida, M., Marrakchi, D.
<strong>Dystrophie musculaire progressive de type Duchenne en Tunisie: a propos de 13 familles et 31 cas d&#x27;une forme en apparence recessive autosomique.</strong>
J. Genet. Hum. 28: 1-9, 1980.
[PubMed: 7400780]
</p>
</li>
<li>
<p class="mim-text-font">
Ben Jelloun-Dellagi, S., Chaffey, P., Hentati, F., Ben Hamida, C., Tome, F., Colin, H., Dellagi, K., Kaplan, J. C., Fardeau, M., Ben Hamida, M.
<strong>Presence of normal dystrophin in Tunisian severe childhood autosomal recessive muscular dystrophy.</strong>
Neurology 40: 1903, 1990.
[PubMed: 2247244]
[Full Text: https://doi.org/10.1212/wnl.40.12.1903]
</p>
</li>
<li>
<p class="mim-text-font">
Ben Othmane, K., Ben Hamida, M., Pericak-Vance, M. A., Ben Hamida, C., Blel, S., Carter, S. C., Bowcock, A. M., Petruhkin, K., Gilliam, T. C., Roses, A. D., Hentati, F., Vance, J. M.
<strong>Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q.</strong>
Nature Genet. 2: 315-317, 1992.
[PubMed: 1303286]
[Full Text: https://doi.org/10.1038/ng1292-315]
</p>
</li>
<li>
<p class="mim-text-font">
Ben Othmane, K., Speer, M. C., Stauffer, J., Blel, S., Middleton, L., Ben Hamida, C., Etribi, A., Loeb, D., Hentati, F., Roses, A. D., Ben Hamida, M., Pericak-Vance, M. A., Vance, J. M.
<strong>Evidence for linkage disequilibrium in chromosome 13-linked Duchenne-like muscular dystrophy (LGMD2C). (Letter)</strong>
Am. J. Hum. Genet. 57: 732-734, 1995.
[PubMed: 7668303]
</p>
</li>
<li>
<p class="mim-text-font">
Calvo, F., Teijeira, S., Fernandez, J. M., Teijeiro, A., Fernandez-Hojas, R., Fernandez-Lopez, X. A., Martin, E., Navarro, C.
<strong>Evaluation of heart involvement in gamma-sarcoglycanopathy (LGMD2C): a study of ten patients.</strong>
Neuromusc. Disord. 10: 560-566, 2000.
[PubMed: 11053682]
[Full Text: https://doi.org/10.1016/s0960-8966(00)00147-4]
</p>
</li>
<li>
<p class="mim-text-font">
Dubowitz, V.
<strong>Progressive muscular dystrophy of the Duchenne type in females and its mode of inheritance.</strong>
Brain 83: 432-439, 1960.
[PubMed: 13724668]
[Full Text: https://doi.org/10.1093/brain/83.3.432]
</p>
</li>
<li>
<p class="mim-text-font">
El Kerch, F., Sefiani, A., Azibi, K., Boutaleb, N., Yahyaoui, M., Bentahila, A., Vinet, M.-C., Leturcq, F., Bachner, L., Beckmann, J., Campbell, K. P., Tome, F. M. S., Fardeau, M., Kaplan, J.-C.
<strong>Linkage analysis of families with severe childhood autosomal recessive muscular dystrophy in Morocco indicates genetic homogeneity of the disease in North Africa.</strong>
J. Med. Genet. 31: 342-343, 1994.
[PubMed: 8071965]
[Full Text: https://doi.org/10.1136/jmg.31.4.342]
</p>
</li>
<li>
<p class="mim-text-font">
Fardeau, M., Matsumura, K., Tome, F. M. S., Collin, H., Leturcq, F., Kaplan, J.-C., Campbell, K. P.
<strong>Deficiency of the 50 kDa dystrophin associated glycoprotein (adhalin) in severe autosomal recessive muscular dystrophies in children native from European countries.</strong>
C. R. Acad. Sci. Paris 316: 799-804, 1993.
[PubMed: 8044705]
</p>
</li>
<li>
<p class="mim-text-font">
Francke, U., Darras, B. T., Hersh, J. H., Berg, B. O., Miller, R. G.
<strong>Brother/sister pairs affected with early-onset, progressive muscular dystrophy: molecular studies reveal etiologic heterogeneity.</strong>
Am. J. Hum. Genet. 45: 63-72, 1989.
[PubMed: 2568091]
</p>
</li>
<li>
<p class="mim-text-font">
Goonewardena, P., Gustavson, K.-H., Gamstorp, I., Lundstrom, N.-R., Pettersson, U.
<strong>A new type of muscular dystrophy in two brothers: analysis by use of DNA probes suggests autosomal recessive inheritance.</strong>
Clin. Genet. 34: 299-305, 1988.
[PubMed: 3228998]
[Full Text: https://doi.org/10.1111/j.1399-0004.1988.tb02882.x]
</p>
</li>
<li>
<p class="mim-text-font">
Hack, A. A., Cordier, L., Shoturma, D. I., Lam, M. Y., Sweeney, H. L., McNally, E. M.
<strong>Muscle degeneration without mechanical injury in sarcoglycan deficiency.</strong>
Proc. Nat. Acad. Sci. 96: 10723-10728, 1999.
[PubMed: 10485893]
[Full Text: https://doi.org/10.1073/pnas.96.19.10723]
</p>
</li>
<li>
<p class="mim-text-font">
Hayashi, Y. K., Mizuno, Y., Yoshida, M., Nonaka, I., Ozawa, E., Arahata, K.
<strong>The frequency of patients with 50-kd dystrophin-associated glycoprotein (50DAG or adhalin) deficiency in a muscular dystrophy patient population in Japan: immunocytochemical analysis of 50DAG, 43DAG, dystrophin, and utrophin.</strong>
Neurology 45: 551-554, 1995.
[PubMed: 7898714]
[Full Text: https://doi.org/10.1212/wnl.45.3.551]
</p>
</li>
<li>
<p class="mim-text-font">
Hazama, R., Tsujihata, M., Mori, M., Mori, K.
<strong>Muscular dystrophy in six young girls.</strong>
Neurology 29: 1486-1491, 1979.
[PubMed: 574202]
[Full Text: https://doi.org/10.1212/wnl.29.11.1486]
</p>
</li>
<li>
<p class="mim-text-font">
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Hum. Molec. Genet. 2: 1945-1947, 1993.
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Carol A. Bocchini - updated : 10/17/2022<br>Cassandra L. Kniffin - updated : 1/23/2009<br>Cassandra L. Kniffin - updated : 1/11/2006<br>Cassandra L. Kniffin - reorganized : 9/10/2004<br>George E. Tiller - updated : 10/26/2000<br>Victor A. McKusick - updated : 8/17/2000<br>Michael J. Wright - updated : 12/16/1999<br>Victor A. McKusick - updated : 11/8/1999<br>Victor A. McKusick - updated : 7/22/1999<br>Victor A. McKusick - updated : 10/2/1998<br>Moyra Smith - updated : 1/31/1997<br>Moyra Smith - updated : 1/27/1997<br>Orest Hurko - updated : 8/15/1995
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