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<title>
Entry
- #613818 - MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9; MDDGC9
- OMIM
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<span class="h4">#613818</span>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/613818"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS609308,PS253600"> <strong>Phenotypic Series</strong> </a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#nomenclature">Nomenclature</a>
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<div><a href="https://clinicaltrials.gov/search?cond=MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0110293" 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>
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<span>
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 726614009<br />
<strong>ORPHA:</strong> 280333<br />
<strong>DO:</strong> 0110293<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>
613818
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9; MDDGC9
</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, AUTOSOMAL RECESSIVE 16; LGMDR16<br />
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2P; LGMD2P<br />
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, DAG1-RELATED
</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/3/313?start=-3&limit=10&highlight=313">
3p21.31
</a>
</span>
</td>
<td>
<span class="mim-font">
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613818"> 613818 </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">
DAG1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/128239"> 128239 </a>
</span>
</td>
</tr>
</tbody>
</table>
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<a href="/clinicalSynopsis/613818" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<a href="/phenotypicSeries/PS609308,PS253600" class="btn btn-info" role="button"> Phenotypic Series </a>
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PheneGene Graphics <span class="caret"></span>
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<li><a href="/graph/linear/613818" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Head </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Small head size (patient A) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271611007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271611007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0424688&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424688</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0040195" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0040195</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">
- Lumbar lordosis (patient A) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/313471000119104" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">313471000119104</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1184923&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1184923</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002938" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002938</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002938" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002938</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">
- Ankle contractures (patient A) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/239740007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">239740007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0343148&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0343148</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034677</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">
- Muscular weakness, limb-girdle (patient A) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1858127&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858127</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003325" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003325</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003325" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003325</a>]</span><br /> -
Difficulty walking and climbing stairs (patient A) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1970213&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1970213</a>]</span><br /> -
Gowers sign (patient A) <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 /> -
Muscle pseudohypertrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249830001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249830001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426941&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426941</a>]</span><br /> -
Dystrophic changes seen on muscle biopsy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3279200&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3279200</a>]</span><br /> -
Hypoglycosylation of alpha-dystroglycan seen on muscle biopsy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3279201&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3279201</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030046" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030046</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Central Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Delayed psychomotor development (patient A) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/224958001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">224958001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F88" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F88</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0557874&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0557874</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span><br /> -
Mental retardation (patient A) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/228156007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">228156007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/110359009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">110359009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317-319.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317-319.99</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3714756&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714756</a>, <a href="https://bioportal.bioontology.org/search?q=C0025362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br /> -
Poor speech acquisition (patient A) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/229721007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">229721007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241210&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241210</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000750</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000750</a>]</span><br /> -
No structural brain anomalies <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3279199&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3279199</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> LABORATORY ABNORMALITIES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Increased serum creatine kinase <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241005&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241005</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003236" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003236</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003236" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003236</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Onset in early childhood<br /> -
Two unrelated patients have been reported (last curated August 2015)<br /> -
Patient B presented with asymptomatic increased serum creatine kinase and no clinical muscle symptoms<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 dystrophin-associated glycoprotein 1 gene (DAG1, <a href="/entry/128239#0001">128239.0001</a>)<br />
</span>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
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</div>
</div>
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Muscular dystrophy-dystroglycanopathy, type C
- <a href="/phenotypicSeries/PS609308">PS609308</a>
- 10 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/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/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/8/243?start=-3&limit=10&highlight=243"> 8p11.21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616094"> ?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 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/616094"> 616094 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615247"> POMK </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615247"> 615247 </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/9/589?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/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/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>
</tbody>
</table>
</div>
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Muscular dystrophy, limb-girdle, autosomal recessive
- <a href="/phenotypicSeries/PS253600">PS253600</a>
- 31 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/565?start=-3&limit=10&highlight=565"> 1p34.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613157"> Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613157"> 613157 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606822"> POMGNT1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606822"> 606822 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1466?start=-3&limit=10&highlight=1466"> 1q25.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617072"> ?Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617072"> 617072 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614512"> TOR1AIP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614512"> 614512 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/351?start=-3&limit=10&highlight=351"> 2p13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/253601"> Muscular dystrophy, limb-girdle, autosomal recessive 2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/253601"> 253601 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603009"> DYSF </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603009"> 603009 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/625?start=-3&limit=10&highlight=625"> 2q14.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616827"> ?Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616827"> 616827 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607908"> LIMS2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607908"> 607908 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/823?start=-3&limit=10&highlight=823"> 2q31.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608807"> Muscular dystrophy, limb-girdle, autosomal recessive 10 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608807"> 608807 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/188840"> TTN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/188840"> 188840 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/214?start=-3&limit=10&highlight=214"> 3p22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618135"> Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618135"> 618135 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614828"> POMGNT2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614828"> 614828 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/313?start=-3&limit=10&highlight=313"> 3p21.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613818"> Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613818"> 613818 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/128239"> DAG1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/128239"> 128239 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/319?start=-3&limit=10&highlight=319"> 3p21.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615352"> Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615352"> 615352 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615320"> GMPPB </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615320"> 615320 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/572?start=-3&limit=10&highlight=572"> 3q13.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617232"> Muscular dystrophy, limb-girdle, autosomal recessive 21 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617232"> 617232 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615618"> POGLUT1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615618"> 615618 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/214?start=-3&limit=10&highlight=214"> 4q12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604286"> Muscular dystrophy, limb-girdle, autosomal recessive 4 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604286"> 604286 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600900"> SGCB </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600900"> 600900 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/705?start=-3&limit=10&highlight=705"> 4q35.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615356"> Muscular dystrophy, limb-girdle, autosomal recessive 18 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615356"> 615356 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614138"> TRAPPC11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614138"> 614138 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/259?start=-3&limit=10&highlight=259"> 5q13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620375"> Muscular dystrophy, limb-girdle, autosomal recessive 28 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620375"> 620375 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/142910"> HMGCR </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/142910"> 142910 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/704?start=-3&limit=10&highlight=704"> 5q33.2-q33.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601287"> Muscular dystrophy, limb-girdle, autosomal recessive 6 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601287"> 601287 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601411"> SGCD </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601411"> 601411 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/743?start=-3&limit=10&highlight=743"> 6q21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616812"> Muscular dystrophy, limb-girdle, autosomal recessive 25 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616812"> 616812 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604577"> BVES </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604577"> 604577 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/744?start=-3&limit=10&highlight=744"> 6q21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618848"> Muscular dystrophy, limb-girdle, autosomal recessive 26 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618848"> 618848 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605824"> POPDC3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605824"> 605824 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/842?start=-3&limit=10&highlight=842"> 6q22.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618138"> Muscular dystrophy, limb-girdle, autosomal recessive 23 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618138"> 618138 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/156225"> LAMA2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/156225"> 156225 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/83?start=-3&limit=10&highlight=83"> 7p21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616052"> Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616052"> 616052 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614631"> CRPPA </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614631"> 614631 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/621?start=-3&limit=10&highlight=621"> 8q24.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613723"> Muscular dystrophy, limb-girdle, autosomal recessive 17 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613723"> 613723 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601282"> PLEC1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601282"> 601282 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/389?start=-3&limit=10&highlight=389"> 9q31.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611588"> Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611588"> 611588 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607440"> FKTN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607440"> 607440 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/453?start=-3&limit=10&highlight=453"> 9q33.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/254110"> Muscular dystrophy, limb-girdle, autosomal recessive 8 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/254110"> 254110 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602290"> TRIM32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602290"> 602290 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/589?start=-3&limit=10&highlight=589"> 9q34.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609308"> Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609308"> 609308 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607423"> POMT1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607423"> 607423 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/243?start=-3&limit=10&highlight=243"> 11p14.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611307"> Muscular dystrophy, limb-girdle, autosomal recessive 12 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611307"> 611307 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608662"> ANO5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608662"> 608662 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/13/30?start=-3&limit=10&highlight=30"> 13q12.12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/253700"> Muscular dystrophy, limb-girdle, autosomal recessive 5 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/253700"> 253700 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608896"> SGCG </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608896"> 608896 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/414?start=-3&limit=10&highlight=414"> 14q24.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613158"> Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613158"> 613158 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607439"> POMT2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607439"> 607439 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/600?start=-3&limit=10&highlight=600"> 14q32.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619566"> Muscular dystrophy, limb-girdle, autosomal recessive 27 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619566"> 619566 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602570"> JAG2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602570"> 602570 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/133?start=-3&limit=10&highlight=133"> 15q15.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/253600"> Muscular dystrophy, limb-girdle, autosomal recessive 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/253600"> 253600 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114240"> CAPN3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114240"> 114240 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/400?start=-3&limit=10&highlight=400"> 15q24.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620793"> Muscular dystrophy, limb-girdle, autosomal recessive 29 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620793"> 620793 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607902"> SNUPN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607902"> 607902 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/488?start=-3&limit=10&highlight=488"> 17q12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601954"> Muscular dystrophy, limb-girdle, autosomal recessive 7 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601954"> 601954 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604488"> TCAP </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604488"> 604488 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/733?start=-3&limit=10&highlight=733"> 17q21.33 </a>
</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>
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<p>A number sign (#) is used with this entry because of evidence that this form of limb-girdle muscular dystrophy-dystroglycanopathy (type C9; MDDGC9), also known as LGMDR16 and LGMD2P, is caused by homozygous or compound heterozygous mutation in the gene encoding alpha-dystroglycan (DAG1; <a href="/entry/128239">128239</a>) on chromosome 3p21.</p><p>Mutation in the DAG1 gene can also cause the more severe disorder congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A9, MDDGA9; <a href="/entry/616538">616538</a>).</p>
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<p>MDDGC9 is an autosomal recessive muscular dystrophy showing onset in early childhood. It is part of a group of similar disorders resulting from defective glycosylation of DAG1, collectively known as 'dystroglycanopathies' (summary by <a href="#3" class="mim-tip-reference" title="Hara, Y., Balci-Hayta, B., Yoshida-Moriguchi, T., Kanagawa, M., Beltran-Valero de Bernabe, D., Gundesli, H., Willer, T., Satz, J. S., Crawford, R. W., Burden, S. J., Kunz, S., Oldstone, M. B. A., Accardi, A., Talim, B., Muntoni, F., Topaloglu, H., Dincer, P., Campbell, K. P. &lt;strong&gt;A dystroglycan mutation associated with limb-girdle muscular dystrophy.&lt;/strong&gt; New Eng. J. Med. 364: 939-946, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21388311/&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;21388311&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=21388311[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/10.1056/NEJMoa1006939&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="21388311">Hara et al., 2011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21388311" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type C, see MDDGC1 (<a href="/entry/609308">609308</a>).</p>
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<p><a href="#1" class="mim-tip-reference" title="Dincer, P., Balci, B., Yuva, Y., Talim, B., Brockington, M., Dincel, D., Torelli, S., Brown, S., Kale, G., Haliloglu, G., Gerceker, F. O., Atalay, R. C., Yakicier, C., Longman, C., Muntoni, F., Topaloglu, H. &lt;strong&gt;A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan.&lt;/strong&gt; Neuromusc. Disord. 13: 771-778, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14678799/&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;14678799&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0960-8966(03)00161-5&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="14678799">Dincer et al. (2003)</a> reported a 16-year-old Turkish girl with autosomal recessive limb-girdle muscular dystrophy and severe mental retardation. She had delayed motor development and achieved walking at age 3 years, but showed unsteady gait and difficulties climbing stairs, which progressed to a waddling gait with Gowers sign. She had mild enlargement of the calves, ankle contractures, and increased lumbar lordosis. At age 16, she used only 2-word sentences and had an IQ of 50. Laboratory studies showed increased serum creatine kinase; brain MRI was normal. Skeletal muscle biopsy showed dystrophic changes and decreased labeling for glycosylated alpha-dystroglycan. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14678799" 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>Clinical Variability</em></strong></p><p>
<a href="#2" class="mim-tip-reference" title="Dong, M., Noguchi, S., Endo, Y., Hayashi, Y. K., Yoshida, S., Nonaka, I., Nishino, I. &lt;strong&gt;DAG1 mutations associated with asymptomatic hyperCKemia and hypoglycosylation of alpha-dystroglycan.&lt;/strong&gt; Neurology 84: 273-279, 2015.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/25503980/&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;25503980&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/WNL.0000000000001162&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="25503980">Dong et al. (2015)</a> reported a 7-year-old boy, born of unrelated Japanese parents, with a very mild form of muscular dystrophy manifest only as asymptomatic increased serum creatine kinase. The patient was found to have increased serum creatine kinase incidentally during an episode of tonsillitis. He had no symptomatic muscle weakness, but did have calf pseudohypertrophy. Skeletal muscle biopsy showed features of muscular dystrophy, including regenerating fibers, internal nuclei, and mild endomysial fibrosis. There was negative staining with an antibody for the glycoepitope of DAG1, and Western blot analysis showed decreased glycosylation of alpha-dystroglycan compared to controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25503980" 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>The transmission pattern of MDDGC9 in the family reported by <a href="#1" class="mim-tip-reference" title="Dincer, P., Balci, B., Yuva, Y., Talim, B., Brockington, M., Dincel, D., Torelli, S., Brown, S., Kale, G., Haliloglu, G., Gerceker, F. O., Atalay, R. C., Yakicier, C., Longman, C., Muntoni, F., Topaloglu, H. &lt;strong&gt;A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan.&lt;/strong&gt; Neuromusc. Disord. 13: 771-778, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14678799/&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;14678799&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0960-8966(03)00161-5&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="14678799">Dincer et al. (2003)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14678799" 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 a Turkish woman with limb-girdle muscular dystrophy and severe cognitive impairment reported by <a href="#1" class="mim-tip-reference" title="Dincer, P., Balci, B., Yuva, Y., Talim, B., Brockington, M., Dincel, D., Torelli, S., Brown, S., Kale, G., Haliloglu, G., Gerceker, F. O., Atalay, R. C., Yakicier, C., Longman, C., Muntoni, F., Topaloglu, H. &lt;strong&gt;A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan.&lt;/strong&gt; Neuromusc. Disord. 13: 771-778, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14678799/&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;14678799&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0960-8966(03)00161-5&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="14678799">Dincer et al. (2003)</a>, <a href="#3" class="mim-tip-reference" title="Hara, Y., Balci-Hayta, B., Yoshida-Moriguchi, T., Kanagawa, M., Beltran-Valero de Bernabe, D., Gundesli, H., Willer, T., Satz, J. S., Crawford, R. W., Burden, S. J., Kunz, S., Oldstone, M. B. A., Accardi, A., Talim, B., Muntoni, F., Topaloglu, H., Dincer, P., Campbell, K. P. &lt;strong&gt;A dystroglycan mutation associated with limb-girdle muscular dystrophy.&lt;/strong&gt; New Eng. J. Med. 364: 939-946, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21388311/&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;21388311&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=21388311[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/10.1056/NEJMoa1006939&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="21388311">Hara et al. (2011)</a> identified a homozygous mutation in the DAG1 gene (T192M; <a href="/entry/128239#0001">128239.0001</a>). Functional expression analysis in vitro and in mice indicated that the mutation decreased LARGE (<a href="/entry/603590">603590</a>)-mediated posttranslational O-mannosyl glycosylation of DAG1, interfering with its receptor function and laminin binding in skeletal muscle and brain. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21388311+14678799" 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 7-year-old Japanese boy with a very mild form of MDDGC9 presenting only as asymptomatic increased serum creatine kinase, <a href="#2" class="mim-tip-reference" title="Dong, M., Noguchi, S., Endo, Y., Hayashi, Y. K., Yoshida, S., Nonaka, I., Nishino, I. &lt;strong&gt;DAG1 mutations associated with asymptomatic hyperCKemia and hypoglycosylation of alpha-dystroglycan.&lt;/strong&gt; Neurology 84: 273-279, 2015.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/25503980/&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;25503980&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/WNL.0000000000001162&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="25503980">Dong et al. (2015)</a> identified compound heterozygous missense mutations in the DAG1 gene (V74I, <a href="/entry/128239#0002">128239.0002</a> and D111N, <a href="/entry/128239#0003">128239.0003</a>). The mutations, which were found by whole-exome sequencing and confirmed by Sanger sequencing, were found at a low frequency in the dbSNP, 1000 Genomes Project, and HapMap databases. Transfection of either mutation into DAG1-null cells did not restore alpha-dystroglycan immunoreactivity. Beta-dystroglycan was unaffected, indicating that the mutations did not influence expression of dystroglycan, but did cause a defect in posttranslational modification. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25503980" 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="#3" class="mim-tip-reference" title="Hara, Y., Balci-Hayta, B., Yoshida-Moriguchi, T., Kanagawa, M., Beltran-Valero de Bernabe, D., Gundesli, H., Willer, T., Satz, J. S., Crawford, R. W., Burden, S. J., Kunz, S., Oldstone, M. B. A., Accardi, A., Talim, B., Muntoni, F., Topaloglu, H., Dincer, P., Campbell, K. P. &lt;strong&gt;A dystroglycan mutation associated with limb-girdle muscular dystrophy.&lt;/strong&gt; New Eng. J. Med. 364: 939-946, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21388311/&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;21388311&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=21388311[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/10.1056/NEJMoa1006939&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="21388311">Hara et al. (2011)</a> demonstrated that mice with a homozygous T190M mutation in the Dag1 gene, which corresponds to the human T192M mutation (<a href="/entry/128239#0001">128239.0001</a>), developed muscular dystrophy and neurologic motor impairment reminiscent of the human disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21388311" 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="Tabebordbar, M., Wang, E. T., Wagers, A. J. &lt;strong&gt;Skeletal muscle degenerative diseases and strategies for therapeutic muscle repair.&lt;/strong&gt; Annu. Rev. Path. 8: 441-475, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/23121053/&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;23121053&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1146/annurev-pathol-011811-132450&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="23121053">Tabebordbar et al. (2013)</a> designated this disorder 'limb-girdle muscular dystrophy 2P (LGMD2P).' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23121053" 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="Dincer2003" class="mim-anchor"></a>
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Dincer, P., Balci, B., Yuva, Y., Talim, B., Brockington, M., Dincel, D., Torelli, S., Brown, S., Kale, G., Haliloglu, G., Gerceker, F. O., Atalay, R. C., Yakicier, C., Longman, C., Muntoni, F., Topaloglu, H.
<strong>A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan.</strong>
Neuromusc. Disord. 13: 771-778, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14678799/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14678799</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14678799" 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/s0960-8966(03)00161-5" target="_blank">Full Text</a>]
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Dong, M., Noguchi, S., Endo, Y., Hayashi, Y. K., Yoshida, S., Nonaka, I., Nishino, I.
<strong>DAG1 mutations associated with asymptomatic hyperCKemia and hypoglycosylation of alpha-dystroglycan.</strong>
Neurology 84: 273-279, 2015.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25503980/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25503980</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25503980" 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.0000000000001162" target="_blank">Full Text</a>]
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Hara, Y., Balci-Hayta, B., Yoshida-Moriguchi, T., Kanagawa, M., Beltran-Valero de Bernabe, D., Gundesli, H., Willer, T., Satz, J. S., Crawford, R. W., Burden, S. J., Kunz, S., Oldstone, M. B. A., Accardi, A., Talim, B., Muntoni, F., Topaloglu, H., Dincer, P., Campbell, K. P.
<strong>A dystroglycan mutation associated with limb-girdle muscular dystrophy.</strong>
New Eng. J. Med. 364: 939-946, 2011.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21388311/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21388311</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21388311[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21388311" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1056/NEJMoa1006939" target="_blank">Full Text</a>]
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<a id="Tabebordbar2013" class="mim-anchor"></a>
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Tabebordbar, M., Wang, E. T., Wagers, A. J.
<strong>Skeletal muscle degenerative diseases and strategies for therapeutic muscle repair.</strong>
Annu. Rev. Path. 8: 441-475, 2013.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23121053/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23121053</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23121053" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1146/annurev-pathol-011811-132450" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 8/31/2015
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Cassandra L. Kniffin : 3/21/2011
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<strong>#</strong> 613818
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MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9; MDDGC9
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<em>Alternative titles; symbols</em>
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MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 16; LGMDR16<br />
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2P; LGMD2P<br />
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, DAG1-RELATED
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<strong>SNOMEDCT:</strong> 726614009; &nbsp;
<strong>ORPHA:</strong> 280333; &nbsp;
<strong>DO:</strong> 0110293; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
3p21.31
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Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9
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613818
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Autosomal recessive
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3
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DAG1
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128239
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that this form of limb-girdle muscular dystrophy-dystroglycanopathy (type C9; MDDGC9), also known as LGMDR16 and LGMD2P, is caused by homozygous or compound heterozygous mutation in the gene encoding alpha-dystroglycan (DAG1; 128239) on chromosome 3p21.</p><p>Mutation in the DAG1 gene can also cause the more severe disorder congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A9, MDDGA9; 616538).</p>
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<strong>Description</strong>
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<p>MDDGC9 is an autosomal recessive muscular dystrophy showing onset in early childhood. It is part of a group of similar disorders resulting from defective glycosylation of DAG1, collectively known as 'dystroglycanopathies' (summary by Hara et al., 2011). </p><p>For a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type C, see MDDGC1 (609308).</p>
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<strong>Clinical Features</strong>
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<p>Dincer et al. (2003) reported a 16-year-old Turkish girl with autosomal recessive limb-girdle muscular dystrophy and severe mental retardation. She had delayed motor development and achieved walking at age 3 years, but showed unsteady gait and difficulties climbing stairs, which progressed to a waddling gait with Gowers sign. She had mild enlargement of the calves, ankle contractures, and increased lumbar lordosis. At age 16, she used only 2-word sentences and had an IQ of 50. Laboratory studies showed increased serum creatine kinase; brain MRI was normal. Skeletal muscle biopsy showed dystrophic changes and decreased labeling for glycosylated alpha-dystroglycan. </p><p><strong><em>Clinical Variability</em></strong></p><p>
Dong et al. (2015) reported a 7-year-old boy, born of unrelated Japanese parents, with a very mild form of muscular dystrophy manifest only as asymptomatic increased serum creatine kinase. The patient was found to have increased serum creatine kinase incidentally during an episode of tonsillitis. He had no symptomatic muscle weakness, but did have calf pseudohypertrophy. Skeletal muscle biopsy showed features of muscular dystrophy, including regenerating fibers, internal nuclei, and mild endomysial fibrosis. There was negative staining with an antibody for the glycoepitope of DAG1, and Western blot analysis showed decreased glycosylation of alpha-dystroglycan compared to controls. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of MDDGC9 in the family reported by Dincer et al. (2003) was consistent with autosomal recessive inheritance. </p>
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<strong>Molecular Genetics</strong>
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<p>In a Turkish woman with limb-girdle muscular dystrophy and severe cognitive impairment reported by Dincer et al. (2003), Hara et al. (2011) identified a homozygous mutation in the DAG1 gene (T192M; 128239.0001). Functional expression analysis in vitro and in mice indicated that the mutation decreased LARGE (603590)-mediated posttranslational O-mannosyl glycosylation of DAG1, interfering with its receptor function and laminin binding in skeletal muscle and brain. </p><p>In a 7-year-old Japanese boy with a very mild form of MDDGC9 presenting only as asymptomatic increased serum creatine kinase, Dong et al. (2015) identified compound heterozygous missense mutations in the DAG1 gene (V74I, 128239.0002 and D111N, 128239.0003). The mutations, which were found by whole-exome sequencing and confirmed by Sanger sequencing, were found at a low frequency in the dbSNP, 1000 Genomes Project, and HapMap databases. Transfection of either mutation into DAG1-null cells did not restore alpha-dystroglycan immunoreactivity. Beta-dystroglycan was unaffected, indicating that the mutations did not influence expression of dystroglycan, but did cause a defect in posttranslational modification. </p>
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<strong>Animal Model</strong>
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<p>Hara et al. (2011) demonstrated that mice with a homozygous T190M mutation in the Dag1 gene, which corresponds to the human T192M mutation (128239.0001), developed muscular dystrophy and neurologic motor impairment reminiscent of the human disorder. </p>
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<strong>Nomenclature</strong>
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<p>Tabebordbar et al. (2013) designated this disorder 'limb-girdle muscular dystrophy 2P (LGMD2P).' </p>
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<strong>REFERENCES</strong>
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<li>
<p class="mim-text-font">
Dincer, P., Balci, B., Yuva, Y., Talim, B., Brockington, M., Dincel, D., Torelli, S., Brown, S., Kale, G., Haliloglu, G., Gerceker, F. O., Atalay, R. C., Yakicier, C., Longman, C., Muntoni, F., Topaloglu, H.
<strong>A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan.</strong>
Neuromusc. Disord. 13: 771-778, 2003.
[PubMed: 14678799]
[Full Text: https://doi.org/10.1016/s0960-8966(03)00161-5]
</p>
</li>
<li>
<p class="mim-text-font">
Dong, M., Noguchi, S., Endo, Y., Hayashi, Y. K., Yoshida, S., Nonaka, I., Nishino, I.
<strong>DAG1 mutations associated with asymptomatic hyperCKemia and hypoglycosylation of alpha-dystroglycan.</strong>
Neurology 84: 273-279, 2015.
[PubMed: 25503980]
[Full Text: https://doi.org/10.1212/WNL.0000000000001162]
</p>
</li>
<li>
<p class="mim-text-font">
Hara, Y., Balci-Hayta, B., Yoshida-Moriguchi, T., Kanagawa, M., Beltran-Valero de Bernabe, D., Gundesli, H., Willer, T., Satz, J. S., Crawford, R. W., Burden, S. J., Kunz, S., Oldstone, M. B. A., Accardi, A., Talim, B., Muntoni, F., Topaloglu, H., Dincer, P., Campbell, K. P.
<strong>A dystroglycan mutation associated with limb-girdle muscular dystrophy.</strong>
New Eng. J. Med. 364: 939-946, 2011.
[PubMed: 21388311]
[Full Text: https://doi.org/10.1056/NEJMoa1006939]
</p>
</li>
<li>
<p class="mim-text-font">
Tabebordbar, M., Wang, E. T., Wagers, A. J.
<strong>Skeletal muscle degenerative diseases and strategies for therapeutic muscle repair.</strong>
Annu. Rev. Path. 8: 441-475, 2013.
[PubMed: 23121053]
[Full Text: https://doi.org/10.1146/annurev-pathol-011811-132450]
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Cassandra L. Kniffin - updated : 8/31/2015
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