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<title>
Entry
- #618138 - MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23
- OMIM
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<span class="h4">#618138</span>
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/618138"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS253600"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</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="#inheritance">Inheritance</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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<a href="#references"><strong>References</strong></a>
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<div style="display: table-cell;">Clinical Resources</div>
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<div><a href="https://clinicaltrials.gov/search?cond=(MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE) OR (LAMA2)" 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="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">&#9658;</span>EuroGentest</div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=284&Typ=Pat" title="Laminin subunit alpha 2-related congenital muscular dystrophy" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Laminin subunit alpha 2-re…&nbsp;</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=28450&Typ=Pat" title="Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Laminin subunit alpha 2-re…&nbsp;</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=618138[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="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">&#9658;</span>Orphanet</div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=258" title="Laminin subunit alpha 2-related congenital muscular dystrophy" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Laminin subunit alpha 2-re…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=565837" title="Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Laminin subunit alpha 2-re…</a></div>
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<div style="display: table-cell;">Animal Models</div>
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<div><a href="https://omia.org/OMIA002459/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<span 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>ORPHA:</strong> 258, 565837<br />
">ICD+</a>
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<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
618138
</span>
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<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23
</span>
</h3>
</div>
<div>
<br />
</div>
</div>
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<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
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<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/6/842?start=-3&limit=10&highlight=842">
6q22.33
</a>
</span>
</td>
<td>
<span class="mim-font">
Muscular dystrophy, limb-girdle, autosomal recessive 23
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618138"> 618138 </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">
LAMA2
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/156225"> 156225 </a>
</span>
</td>
</tr>
</tbody>
</table>
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<a href="/clinicalSynopsis/618138" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<a href="/phenotypicSeries/PS253600" class="btn btn-info" role="button"> Phenotypic Series </a>
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PheneGene Graphics <span class="caret"></span>
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<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/618138" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/618138" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Neck </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Neck weakness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249931001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249931001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0427054&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0427054</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">
- Proximal muscle weakness, upper and lower limbs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3149600&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3149600</a>]</span><br /> -
Difficulty climbing stairs <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/282195009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">282195009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239067&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239067</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003551" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003551</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003551" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003551</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 /> -
Gait difficulties <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22325002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22325002</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/781.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">781.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0575081&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0575081</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001288" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001288</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001288" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001288</a>]</span><br /> -
Muscle cramps <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/45352006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">45352006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/55300003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">55300003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M62.83" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M62.83</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/728.85" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">728.85</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0037763&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0037763</a>, <a href="https://bioportal.bioontology.org/search?q=C0026821&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026821</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003394" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003394</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003394" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003394</a>]</span><br /> -
Calf hypertrophy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843057&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843057</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008981" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008981</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008981" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008981</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 /> -
Partial LAMA2 deficiency <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4748331&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4748331</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 motor development <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854301&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854301</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001270</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001270</a>]</span><br /> -
Executive deficits (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4748328&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4748328</a>]</span><br /> -
Seizures (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91175000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91175000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span><br /> -
White matter abnormalities seen on brain imaging <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4748329&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4748329</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002500" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002500</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Peripheral Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Sensorimotor demyelinating neuropathy (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/230656003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">230656003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0393906&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0393906</a>]</span><br /> -
Areflexia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/37280007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">37280007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234146&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234146</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001284" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001284</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001284" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001284</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> LABORATORY ABNORMALITIES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Increased serum creatine kinase <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241005&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241005</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003236" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003236</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003236" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003236</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Onset after walking is achieved<br /> -
Variable age at onset (range childhood to adult)<br /> -
Slowly progressive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854494&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854494</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003677</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003677</a>]</span><br /> -
Variable severity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861403&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861403</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span><br /> -
Patients remain ambulatory<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 laminin alpha-2 gene (LAMA2, <a href="/entry/156225#0016">156225.0016</a>)<br />
</span>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Muscular dystrophy, limb-girdle, autosomal recessive
- <a href="/phenotypicSeries/PS253600">PS253600</a>
- 31 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/565?start=-3&limit=10&highlight=565"> 1p34.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613157"> Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613157"> 613157 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606822"> POMGNT1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606822"> 606822 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1466?start=-3&limit=10&highlight=1466"> 1q25.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617072"> ?Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617072"> 617072 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614512"> TOR1AIP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614512"> 614512 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/351?start=-3&limit=10&highlight=351"> 2p13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/253601"> Muscular dystrophy, limb-girdle, autosomal recessive 2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/253601"> 253601 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603009"> DYSF </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603009"> 603009 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/625?start=-3&limit=10&highlight=625"> 2q14.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616827"> ?Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616827"> 616827 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607908"> LIMS2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607908"> 607908 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/823?start=-3&limit=10&highlight=823"> 2q31.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608807"> Muscular dystrophy, limb-girdle, autosomal recessive 10 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608807"> 608807 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/188840"> TTN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/188840"> 188840 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/214?start=-3&limit=10&highlight=214"> 3p22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618135"> Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618135"> 618135 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614828"> POMGNT2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614828"> 614828 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/313?start=-3&limit=10&highlight=313"> 3p21.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613818"> Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613818"> 613818 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/128239"> DAG1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/128239"> 128239 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/319?start=-3&limit=10&highlight=319"> 3p21.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615352"> Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615352"> 615352 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615320"> GMPPB </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615320"> 615320 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/572?start=-3&limit=10&highlight=572"> 3q13.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617232"> Muscular dystrophy, limb-girdle, autosomal recessive 21 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617232"> 617232 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615618"> POGLUT1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615618"> 615618 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/214?start=-3&limit=10&highlight=214"> 4q12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604286"> Muscular dystrophy, limb-girdle, autosomal recessive 4 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604286"> 604286 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600900"> SGCB </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600900"> 600900 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/705?start=-3&limit=10&highlight=705"> 4q35.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615356"> Muscular dystrophy, limb-girdle, autosomal recessive 18 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615356"> 615356 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614138"> TRAPPC11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614138"> 614138 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/259?start=-3&limit=10&highlight=259"> 5q13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620375"> Muscular dystrophy, limb-girdle, autosomal recessive 28 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620375"> 620375 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/142910"> HMGCR </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/142910"> 142910 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/704?start=-3&limit=10&highlight=704"> 5q33.2-q33.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601287"> Muscular dystrophy, limb-girdle, autosomal recessive 6 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601287"> 601287 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601411"> SGCD </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601411"> 601411 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/743?start=-3&limit=10&highlight=743"> 6q21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616812"> Muscular dystrophy, limb-girdle, autosomal recessive 25 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616812"> 616812 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604577"> BVES </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604577"> 604577 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/744?start=-3&limit=10&highlight=744"> 6q21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618848"> Muscular dystrophy, limb-girdle, autosomal recessive 26 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618848"> 618848 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605824"> POPDC3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605824"> 605824 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/842?start=-3&limit=10&highlight=842"> 6q22.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618138"> Muscular dystrophy, limb-girdle, autosomal recessive 23 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618138"> 618138 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/156225"> LAMA2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/156225"> 156225 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/83?start=-3&limit=10&highlight=83"> 7p21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616052"> Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616052"> 616052 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614631"> CRPPA </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614631"> 614631 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/621?start=-3&limit=10&highlight=621"> 8q24.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613723"> Muscular dystrophy, limb-girdle, autosomal recessive 17 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613723"> 613723 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601282"> PLEC1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601282"> 601282 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/389?start=-3&limit=10&highlight=389"> 9q31.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611588"> Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611588"> 611588 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607440"> FKTN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607440"> 607440 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/453?start=-3&limit=10&highlight=453"> 9q33.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/254110"> Muscular dystrophy, limb-girdle, autosomal recessive 8 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/254110"> 254110 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602290"> TRIM32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602290"> 602290 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/589?start=-3&limit=10&highlight=589"> 9q34.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609308"> Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609308"> 609308 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607423"> POMT1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607423"> 607423 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/243?start=-3&limit=10&highlight=243"> 11p14.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611307"> Muscular dystrophy, limb-girdle, autosomal recessive 12 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611307"> 611307 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608662"> ANO5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608662"> 608662 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/13/30?start=-3&limit=10&highlight=30"> 13q12.12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/253700"> Muscular dystrophy, limb-girdle, autosomal recessive 5 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/253700"> 253700 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608896"> SGCG </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608896"> 608896 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/414?start=-3&limit=10&highlight=414"> 14q24.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613158"> Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613158"> 613158 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607439"> POMT2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607439"> 607439 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/600?start=-3&limit=10&highlight=600"> 14q32.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619566"> Muscular dystrophy, limb-girdle, autosomal recessive 27 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619566"> 619566 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602570"> JAG2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602570"> 602570 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/133?start=-3&limit=10&highlight=133"> 15q15.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/253600"> Muscular dystrophy, limb-girdle, autosomal recessive 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/253600"> 253600 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114240"> CAPN3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114240"> 114240 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/400?start=-3&limit=10&highlight=400"> 15q24.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620793"> Muscular dystrophy, limb-girdle, autosomal recessive 29 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620793"> 620793 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607902"> SNUPN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607902"> 607902 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/488?start=-3&limit=10&highlight=488"> 17q12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601954"> Muscular dystrophy, limb-girdle, autosomal recessive 7 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601954"> 601954 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604488"> TCAP </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604488"> 604488 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/733?start=-3&limit=10&highlight=733"> 17q21.33 </a>
</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">
<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon &lt;span class='glyphicon glyphicon-plus-sign'&gt;&lt;/span&gt at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
<strong>TEXT</strong>
</span>
</span>
</h4>
<div id="mimTextFold" class="collapse in ">
<span class="mim-text-font">
<p>A number sign (#) is used with this entry because of evidence that autosomal recessive limb-girdle muscular dystrophy-23 (LGMDR23) is caused by homozygous or compound heterozygous mutation in the LAMA2 gene (<a href="/entry/156225">156225</a>) on chromosome 6q22.</p><p>Biallelic mutation in the LAMA2 gene can also cause congenital muscular dystrophy (MDC1A; <a href="/entry/607855">607855</a>), which has overlapping but more severe features.</p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="description" class="mim-anchor"></a>
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Description</strong>
</span>
</h4>
</div>
<div id="mimDescriptionFold" class="collapse in ">
<span class="mim-text-font">
<p>Autosomal recessive limb-girdle muscular dystrophy-23 is characterized by slowly progressive proximal muscle weakness primarily affecting the lower limbs and resulting in gait difficulties. Age at onset generally ranges from childhood to mid-adulthood. Additional features include white matter abnormalities on brain imaging, increased serum creatine kinase, and dystrophic features, with partial LAMA2 deficiency on muscle biopsy. Some patients may have additional neurologic features, including executive deficits, seizures, and peripheral neuropathy. Patients remain ambulatory well into adulthood (summary by <a href="#2" class="mim-tip-reference" title="Gavassini, B. F., Carboni, N., Nielsen, J. E., Danielsen, E. R, Thomsen, C., Svenstrup, K., Bello, L. Maioli, M. A., Marrosu, G., Ticca, A. F., Mura, M., Marrosu, M. G., Soraru, G., Angelini, C., Vissing, J., Pegoraro, E. &lt;strong&gt;Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations.&lt;/strong&gt; Muscle Nerve 44: 703-709, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21953594/&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;21953594&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/mus.22132&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="21953594">Gavassini et al., 2011</a> and <a href="#1" class="mim-tip-reference" title="Chan, S. H. S., Foley, R., Phadke, R., Mathew, A. A., Pitt, M., Sewry, C., Muntoni, F. &lt;strong&gt;Limb girdle muscular dystrophy due to LAMA2 mutations: diagnostic difficulties due to associated peripheral neuropathy.&lt;/strong&gt; Neuromusc. Disord. 24: 677-683, 2014.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/24957499/&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;24957499&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.nmd.2014.05.008&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="24957499">Chan et al., 2014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21953594+24957499" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 (<a href="/entry/253600">253600</a>).</p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="clinicalFeatures" class="mim-anchor"></a>
<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Clinical Features</strong>
</span>
</h4>
</div>
<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#2" class="mim-tip-reference" title="Gavassini, B. F., Carboni, N., Nielsen, J. E., Danielsen, E. R, Thomsen, C., Svenstrup, K., Bello, L. Maioli, M. A., Marrosu, G., Ticca, A. F., Mura, M., Marrosu, M. G., Soraru, G., Angelini, C., Vissing, J., Pegoraro, E. &lt;strong&gt;Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations.&lt;/strong&gt; Muscle Nerve 44: 703-709, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21953594/&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;21953594&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/mus.22132&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="21953594">Gavassini et al. (2011)</a> reported 5 patients from 4 families with LGMDR23. The phenotype was highly variable, but all patients remained ambulant between 17 and 65 years of age. Four patients had normal motor development, whereas 1 patient had delayed walking at 2 years of age. The age at onset was reported to be between 10 and 59 years, but 1 patient had onset at age 14 months. Features included proximal muscle weakness in the upper and lower limbs, difficulty climbing stairs and running, waddling gait, Gowers sign, and muscle cramps, as well as increased serum creatine kinase. Three patients had calf hypertrophy. Neurologic involvement was also variable: all patients had nonprogressive diffuse white matter abnormalities on brain imaging, 3 had deficits in executive function or cognition, 2 had controlled seizures, and 2 had possible seizures. Muscle biopsy showed partial and variably decreased immunostaining for LAMA2 as well as increased immunostaining for LAMA5 (<a href="/entry/601033">601033</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21953594" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Chan, S. H. S., Foley, R., Phadke, R., Mathew, A. A., Pitt, M., Sewry, C., Muntoni, F. &lt;strong&gt;Limb girdle muscular dystrophy due to LAMA2 mutations: diagnostic difficulties due to associated peripheral neuropathy.&lt;/strong&gt; Neuromusc. Disord. 24: 677-683, 2014.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/24957499/&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;24957499&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.nmd.2014.05.008&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="24957499">Chan et al. (2014)</a> reported an 11-year-old girl with LGMDR23. She had normal early motor development, but had transient unilateral ptosis in early childhood. At age 5, she was noted to be clumsy and slow, and later showed difficulty running, jumping, climbing stairs and lifting heavy objects, but remained ambulatory. Her initial assessment, including electrophysiologic studies, was consistent with a demyelinating sensorimotor peripheral neuropathy. Physical examination showed proximal weakness of the upper and lower limbs, areflexia, distal hand wasting, Gowers sign, elbow contractures, and mild kyphosis. Sensation, proprioception, and vibration sensation were intact. She had decreased nerve conduction velocities as well as signs of chronic reinnervation and axonal degeneration. Muscle biopsy showed dystrophic features, including increased fiber size variation, increased fat and connective tissue, and internal nuclei. Immunostaining of skeletal muscle sample showed partial LAMA2 deficiency in both muscle fibers and intramuscular motor nerves. Serum creatine kinase was increased, and brain imaging showed white matter abnormalities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24957499" 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="Lokken, N., Born, A. P., Duno, M., Vissing, J. &lt;strong&gt;LAMA2-related myopathy: frequency among congenital and limb-girdle muscular dystrophies.&lt;/strong&gt; Muscle Nerve 52: 547-553, 2015.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/25663498/&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;25663498&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/mus.24588&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="25663498">Lokken et al. (2015)</a> reported 1 new patient (patient 7) with LGMDR23. This woman showed delayed motor development before 1 year of age, but presented with LGMD at age 32. She was able to walk and run and remained ambulatory as an adult, but she had a positive Gowers sign. Serum creatine kinase was increased, and muscle biopsy showed mild dystrophic and myopathic changes as well as partial LAMA2 deficiency. Brain imaging showed white matter abnormalities; cognition was normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25663498" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Inheritance</strong>
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<span class="mim-text-font">
<p>The transmission pattern of LGMDR23 in the families reported by <a href="#2" class="mim-tip-reference" title="Gavassini, B. F., Carboni, N., Nielsen, J. E., Danielsen, E. R, Thomsen, C., Svenstrup, K., Bello, L. Maioli, M. A., Marrosu, G., Ticca, A. F., Mura, M., Marrosu, M. G., Soraru, G., Angelini, C., Vissing, J., Pegoraro, E. &lt;strong&gt;Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations.&lt;/strong&gt; Muscle Nerve 44: 703-709, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21953594/&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;21953594&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/mus.22132&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="21953594">Gavassini et al. (2011)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21953594" 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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<div>
<a id="molecularGenetics" class="mim-anchor"></a>
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<strong>Molecular Genetics</strong>
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<p>In 5 patients from 4 families with LGMDR23, <a href="#2" class="mim-tip-reference" title="Gavassini, B. F., Carboni, N., Nielsen, J. E., Danielsen, E. R, Thomsen, C., Svenstrup, K., Bello, L. Maioli, M. A., Marrosu, G., Ticca, A. F., Mura, M., Marrosu, M. G., Soraru, G., Angelini, C., Vissing, J., Pegoraro, E. &lt;strong&gt;Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations.&lt;/strong&gt; Muscle Nerve 44: 703-709, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21953594/&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;21953594&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/mus.22132&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="21953594">Gavassini et al. (2011)</a> identified homozygous or compound heterozygous mutations in the LAMA2 gene (see, e.g., <a href="/entry/156225#0016">156225.0016</a> and <a href="/entry/156225#0017">156225.0017</a>). There were 4 missense mutations, 1 splice site mutation, and 1 in-frame deletion. The mutations were located in both the globular and the rod-like domains of the protein. Functional studies of the variants were not performed, but the splice site mutation was confirmed to result in a frameshift in patient cells. Muscle biopsy showed partial LAMA2 deficiency in all patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21953594" 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 girl with LGMDR23, <a href="#1" class="mim-tip-reference" title="Chan, S. H. S., Foley, R., Phadke, R., Mathew, A. A., Pitt, M., Sewry, C., Muntoni, F. &lt;strong&gt;Limb girdle muscular dystrophy due to LAMA2 mutations: diagnostic difficulties due to associated peripheral neuropathy.&lt;/strong&gt; Neuromusc. Disord. 24: 677-683, 2014.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/24957499/&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;24957499&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.nmd.2014.05.008&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="24957499">Chan et al. (2014)</a> identified compound heterozygous mutations in the LAMA2 gene (Q131X, <a href="/entry/156225#0018">156225.0018</a> and A1496V, <a href="/entry/156225#0019">156225.0019</a>). The mutations segregated with the disorder in the family. Functional studies of the variants were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24957499" 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 patient with LGMDR23, <a href="#3" class="mim-tip-reference" title="Lokken, N., Born, A. P., Duno, M., Vissing, J. &lt;strong&gt;LAMA2-related myopathy: frequency among congenital and limb-girdle muscular dystrophies.&lt;/strong&gt; Muscle Nerve 52: 547-553, 2015.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/25663498/&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;25663498&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/mus.24588&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="25663498">Lokken et al. (2015)</a> identified compound heterozygous missense mutations in the LAMA2 gene (L12R and L1253R). Functional studies of the variants were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25663498" 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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<strong>Genotype/Phenotype Correlations</strong>
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</h4>
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<p>In a comprehensive mutation update on LAMA2 mutations, <a href="#4" class="mim-tip-reference" title="Oliveira, J., Gruber, A., Cardoso, M., Taipa, R., Fineza, I., Goncalves, A., Laner, A., Winder, T. L., Schroeder, J., Rath, J., Oliveira, M. E., Vieira, E., and 11 others. &lt;strong&gt;LAMA2 gene mutation update: toward a more comprehensive picture of the laminin-alpha-2 variome and its related phenotypes.&lt;/strong&gt; Hum. Mutat. 39: 1314-1337, 2018.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/30055037/&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;30055037&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.23599&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="30055037">Oliveira et al. (2018)</a> stated that the most frequently reported genotypes are variants that create premature termination codons (PTC) in both disease alleles, are associated with complete deficiency of laminin in muscle biopsy, and cause a severe, congenital muscular dystrophy (MDC1A). In contrast, missense variants, which are present in a smaller number of cases, usually correlate with partial laminin deficiency in muscle biopsy, and cause a milder, later-onset disorder (LGMDR23). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30055037" 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="references"class="mim-anchor"></a>
<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span class="mim-font">
<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>REFERENCES</strong>
</span>
</h4>
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<p />
</div>
<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
<ol>
<li>
<a id="1" class="mim-anchor"></a>
<a id="Chan2014" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Chan, S. H. S., Foley, R., Phadke, R., Mathew, A. A., Pitt, M., Sewry, C., Muntoni, F.
<strong>Limb girdle muscular dystrophy due to LAMA2 mutations: diagnostic difficulties due to associated peripheral neuropathy.</strong>
Neuromusc. Disord. 24: 677-683, 2014.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24957499/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24957499</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24957499" 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.2014.05.008" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="2" class="mim-anchor"></a>
<a id="Gavassini2011" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Gavassini, B. F., Carboni, N., Nielsen, J. E., Danielsen, E. R, Thomsen, C., Svenstrup, K., Bello, L. Maioli, M. A., Marrosu, G., Ticca, A. F., Mura, M., Marrosu, M. G., Soraru, G., Angelini, C., Vissing, J., Pegoraro, E.
<strong>Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations.</strong>
Muscle Nerve 44: 703-709, 2011.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21953594/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21953594</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21953594" 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/mus.22132" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="3" class="mim-anchor"></a>
<a id="Lokken2015" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Lokken, N., Born, A. P., Duno, M., Vissing, J.
<strong>LAMA2-related myopathy: frequency among congenital and limb-girdle muscular dystrophies.</strong>
Muscle Nerve 52: 547-553, 2015.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25663498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25663498</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25663498" 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/mus.24588" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="4" class="mim-anchor"></a>
<a id="Oliveira2018" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Oliveira, J., Gruber, A., Cardoso, M., Taipa, R., Fineza, I., Goncalves, A., Laner, A., Winder, T. L., Schroeder, J., Rath, J., Oliveira, M. E., Vieira, E., and 11 others.
<strong>LAMA2 gene mutation update: toward a more comprehensive picture of the laminin-alpha-2 variome and its related phenotypes.</strong>
Hum. Mutat. 39: 1314-1337, 2018.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30055037/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30055037</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30055037" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/humu.23599" target="_blank">Full Text</a>]
</p>
</div>
</li>
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Creation Date:
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<span class="mim-text-font">
Cassandra L. Kniffin : 10/01/2018
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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carol : 04/02/2021
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alopez : 10/11/2019<br>carol : 10/09/2018<br>carol : 10/08/2018<br>carol : 10/05/2018<br>ckniffin : 10/04/2018
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<strong>#</strong> 618138
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<h3>
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MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23
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<strong>ORPHA:</strong> 258, 565837; &nbsp;
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<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">
6q22.33
</span>
</td>
<td>
<span class="mim-font">
Muscular dystrophy, limb-girdle, autosomal recessive 23
</span>
</td>
<td>
<span class="mim-font">
618138
</span>
</td>
<td>
<span class="mim-font">
Autosomal recessive
</span>
</td>
<td>
<span class="mim-font">
3
</span>
</td>
<td>
<span class="mim-font">
LAMA2
</span>
</td>
<td>
<span class="mim-font">
156225
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>TEXT</strong>
</span>
</h4>
<span class="mim-text-font">
<p>A number sign (#) is used with this entry because of evidence that autosomal recessive limb-girdle muscular dystrophy-23 (LGMDR23) is caused by homozygous or compound heterozygous mutation in the LAMA2 gene (156225) on chromosome 6q22.</p><p>Biallelic mutation in the LAMA2 gene can also cause congenital muscular dystrophy (MDC1A; 607855), which has overlapping but more severe features.</p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Description</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Autosomal recessive limb-girdle muscular dystrophy-23 is characterized by slowly progressive proximal muscle weakness primarily affecting the lower limbs and resulting in gait difficulties. Age at onset generally ranges from childhood to mid-adulthood. Additional features include white matter abnormalities on brain imaging, increased serum creatine kinase, and dystrophic features, with partial LAMA2 deficiency on muscle biopsy. Some patients may have additional neurologic features, including executive deficits, seizures, and peripheral neuropathy. Patients remain ambulatory well into adulthood (summary by Gavassini et al., 2011 and Chan et al., 2014). </p><p>For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 (253600).</p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Clinical Features</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Gavassini et al. (2011) reported 5 patients from 4 families with LGMDR23. The phenotype was highly variable, but all patients remained ambulant between 17 and 65 years of age. Four patients had normal motor development, whereas 1 patient had delayed walking at 2 years of age. The age at onset was reported to be between 10 and 59 years, but 1 patient had onset at age 14 months. Features included proximal muscle weakness in the upper and lower limbs, difficulty climbing stairs and running, waddling gait, Gowers sign, and muscle cramps, as well as increased serum creatine kinase. Three patients had calf hypertrophy. Neurologic involvement was also variable: all patients had nonprogressive diffuse white matter abnormalities on brain imaging, 3 had deficits in executive function or cognition, 2 had controlled seizures, and 2 had possible seizures. Muscle biopsy showed partial and variably decreased immunostaining for LAMA2 as well as increased immunostaining for LAMA5 (601033). </p><p>Chan et al. (2014) reported an 11-year-old girl with LGMDR23. She had normal early motor development, but had transient unilateral ptosis in early childhood. At age 5, she was noted to be clumsy and slow, and later showed difficulty running, jumping, climbing stairs and lifting heavy objects, but remained ambulatory. Her initial assessment, including electrophysiologic studies, was consistent with a demyelinating sensorimotor peripheral neuropathy. Physical examination showed proximal weakness of the upper and lower limbs, areflexia, distal hand wasting, Gowers sign, elbow contractures, and mild kyphosis. Sensation, proprioception, and vibration sensation were intact. She had decreased nerve conduction velocities as well as signs of chronic reinnervation and axonal degeneration. Muscle biopsy showed dystrophic features, including increased fiber size variation, increased fat and connective tissue, and internal nuclei. Immunostaining of skeletal muscle sample showed partial LAMA2 deficiency in both muscle fibers and intramuscular motor nerves. Serum creatine kinase was increased, and brain imaging showed white matter abnormalities. </p><p>Lokken et al. (2015) reported 1 new patient (patient 7) with LGMDR23. This woman showed delayed motor development before 1 year of age, but presented with LGMD at age 32. She was able to walk and run and remained ambulatory as an adult, but she had a positive Gowers sign. Serum creatine kinase was increased, and muscle biopsy showed mild dystrophic and myopathic changes as well as partial LAMA2 deficiency. Brain imaging showed white matter abnormalities; cognition was normal. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Inheritance</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>The transmission pattern of LGMDR23 in the families reported by Gavassini et al. (2011) was consistent with autosomal recessive inheritance. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In 5 patients from 4 families with LGMDR23, Gavassini et al. (2011) identified homozygous or compound heterozygous mutations in the LAMA2 gene (see, e.g., 156225.0016 and 156225.0017). There were 4 missense mutations, 1 splice site mutation, and 1 in-frame deletion. The mutations were located in both the globular and the rod-like domains of the protein. Functional studies of the variants were not performed, but the splice site mutation was confirmed to result in a frameshift in patient cells. Muscle biopsy showed partial LAMA2 deficiency in all patients. </p><p>In a girl with LGMDR23, Chan et al. (2014) identified compound heterozygous mutations in the LAMA2 gene (Q131X, 156225.0018 and A1496V, 156225.0019). The mutations segregated with the disorder in the family. Functional studies of the variants were not performed. </p><p>In a patient with LGMDR23, Lokken et al. (2015) identified compound heterozygous missense mutations in the LAMA2 gene (L12R and L1253R). Functional studies of the variants were not performed. </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>In a comprehensive mutation update on LAMA2 mutations, Oliveira et al. (2018) stated that the most frequently reported genotypes are variants that create premature termination codons (PTC) in both disease alleles, are associated with complete deficiency of laminin in muscle biopsy, and cause a severe, congenital muscular dystrophy (MDC1A). In contrast, missense variants, which are present in a smaller number of cases, usually correlate with partial laminin deficiency in muscle biopsy, and cause a milder, later-onset disorder (LGMDR23). </p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Chan, S. H. S., Foley, R., Phadke, R., Mathew, A. A., Pitt, M., Sewry, C., Muntoni, F.
<strong>Limb girdle muscular dystrophy due to LAMA2 mutations: diagnostic difficulties due to associated peripheral neuropathy.</strong>
Neuromusc. Disord. 24: 677-683, 2014.
[PubMed: 24957499]
[Full Text: https://doi.org/10.1016/j.nmd.2014.05.008]
</p>
</li>
<li>
<p class="mim-text-font">
Gavassini, B. F., Carboni, N., Nielsen, J. E., Danielsen, E. R, Thomsen, C., Svenstrup, K., Bello, L. Maioli, M. A., Marrosu, G., Ticca, A. F., Mura, M., Marrosu, M. G., Soraru, G., Angelini, C., Vissing, J., Pegoraro, E.
<strong>Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations.</strong>
Muscle Nerve 44: 703-709, 2011.
[PubMed: 21953594]
[Full Text: https://doi.org/10.1002/mus.22132]
</p>
</li>
<li>
<p class="mim-text-font">
Lokken, N., Born, A. P., Duno, M., Vissing, J.
<strong>LAMA2-related myopathy: frequency among congenital and limb-girdle muscular dystrophies.</strong>
Muscle Nerve 52: 547-553, 2015.
[PubMed: 25663498]
[Full Text: https://doi.org/10.1002/mus.24588]
</p>
</li>
<li>
<p class="mim-text-font">
Oliveira, J., Gruber, A., Cardoso, M., Taipa, R., Fineza, I., Goncalves, A., Laner, A., Winder, T. L., Schroeder, J., Rath, J., Oliveira, M. E., Vieira, E., and 11 others.
<strong>LAMA2 gene mutation update: toward a more comprehensive picture of the laminin-alpha-2 variome and its related phenotypes.</strong>
Hum. Mutat. 39: 1314-1337, 2018.
[PubMed: 30055037]
[Full Text: https://doi.org/10.1002/humu.23599]
</p>
</li>
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Cassandra L. Kniffin : 10/01/2018
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