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<title>
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Entry
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- #181400 - SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE; SCPNK
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- OMIM
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=11628&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/6429" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=181400[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85146" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111551" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/181400" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0111551" 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>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 1208615009<br />
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<strong>ORPHA:</strong> 85146<br />
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<strong>DO:</strong> 0111551<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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181400
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE; SCPNK
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</h3>
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</div>
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<div>
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<br />
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<div>
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<p>
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<em>Alternative titles; symbols</em>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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KAESER SYNDROME<br />
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STARK-KAESER SYNDROME<br />
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SCAPULOPERONEAL SYNDROME, NEUROGENIC TYPE, OF KAESER
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<a id="phenotypeMap" class="mim-anchor"></a>
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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">
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<a href="/geneMap/2/1040?start=-3&limit=10&highlight=1040">
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2q35
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<span class="mim-font">
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Scapuloperoneal syndrome, neurogenic, Kaeser type
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<span class="mim-font">
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<a href="/entry/181400"> 181400 </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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DES
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<span class="mim-font">
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<a href="/entry/125660"> 125660 </a>
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<a href="/clinicalSynopsis/181400" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/181400" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/181400" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </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">
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<span class="h5 mim-font">
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<strong> Neuro </strong>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Neurogenic scapuloperoneal syndrome <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842161&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842161</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003704" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003704</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003704" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003704</a>]</span><br /> - Bilateral foot drop <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/15638171000119103" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">15638171000119103</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3807697&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3807697</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M21.37" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M21.37</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009027" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009027</a>]</span><br /> - Late bulbar involvement<br />
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</div>
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<span class="h5 mim-font">
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<strong> Muscle </strong>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Peroneal atrophy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1389118&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1389118</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009049" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009049</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009049" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009049</a>]</span><br /> - Shoulder girdle atrophy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1847766&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1847766</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003724" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003724</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003724" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003724</a>]</span><br />
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</div>
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<div>
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<span class="h5 mim-font">
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<strong> Limbs </strong>
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</span>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Talipes equinovarus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397932003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397932003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1156475005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1156475005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.89" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.89</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009081&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009081</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001762" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001762</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001762" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001762</a>]</span><br />
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<span class="h5 mim-font">
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<strong> Inheritance </strong>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<div class="mim-changed mim-change"><p>A number sign (#) is used with this entry because of evidence that Kaeser-type neurogenic scapuloperoneal syndrome (SCPNK) is caused by heterozygous mutation in the DES gene (<a href="/entry/125660">125660</a>) on chromosome 2q35.</p></div>
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<br />
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<a id="description" class="mim-anchor"></a>
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>Description</strong>
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<div class="mim-changed mim-change"><p>Kaeser-type neurogenic scapuloperoneal syndrome (SCPNK) is an autosomal dominant myopathy with a highly variable clinical and morphologic phenotype, even within the same family. Weakness may be scapuloperoneal, limb-girdle, or distal, with variable cardiac or respiratory involvement. Facial weakness, dysphagia, and gynecomastia frequently occur (summary by <a href="#13" class="mim-tip-reference" title="Walter, M. C., Reilich, P., Huebner, A., Fischer, D., Schroder, R., Vorgerd, M., Kress, W., Born, C., Schoser, B. G., Krause, K. H., Klutzny, U. Bulst, S. Frey, J. R., Lochmuller, H. <strong>Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P.</strong> Brain 130: 1485-1496, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17439987/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17439987</a>] [<a href="https://doi.org/10.1093/brain/awm039" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17439987">Walter et al., 2007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17439987" 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></div>
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<p>Peroneal atrophy is accompanied by bilateral foot drop and talipes equinovarus. Following atrophy of the lower legs, the shoulder girdle is involved. Bulbar involvement is late. Autopsy shows muscular atrophy and involvement of caudal cranial nuclei. <a href="#9" class="mim-tip-reference" title="Palmer, H. D. <strong>Familial scapuloperoneal amyotrophy.</strong> Arch. Neurol. Psychiat. 28: 473-477, 1932."None>Palmer (1932)</a> described a family with 8 persons affected, the earliest having onset about 1800. <a href="#1" class="mim-tip-reference" title="Davidenkow, S. <strong>Scapuloperoneal amyotrophy.</strong> Arch. Neurol. Psychiat. 41: 694-701, 1939."None>Davidenkow (1939)</a> suggested that cases reported by Wohlfart (see juvenile muscular atrophy, <a href="/entry/253400">253400</a> and <a href="/entry/158600">158600</a>) were the same as those he designated scapuloperoneal amyotrophy.</p><p><a href="#7" class="mim-tip-reference" title="Kaeser, H. E. <strong>Scapuloperoneal muscular atrophy.</strong> Brain 88: 407-418, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5828910/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5828910</a>] [<a href="https://doi.org/10.1093/brain/88.2.407" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5828910">Kaeser (1965)</a> reported a kindred (kindred F) in which 12 members in 5 generations had neurogenic scapuloperoneal syndrome in an autosomal dominant pattern of inheritance. Age at onset was between 30 and 50 years and followed a slowly progressive course. In the first 3 generations, weakness and atrophy started in the legs and spread to the thighs and pelvic girdle, resulting in paraplegia. In the fifth generation, the atrophies extended to the shoulder girdle, upper arms, neck, face, pharynx, and external eye muscles. Histologic examination at autopsy in 1 patient showed that the atrophies were neurogenic in origin, similar to those in Wohlfart-Kugelberg-Welander muscular atrophy. Kindred F, however, demonstrated significant differences from the cases reported by <a href="#1" class="mim-tip-reference" title="Davidenkow, S. <strong>Scapuloperoneal amyotrophy.</strong> Arch. Neurol. Psychiat. 41: 694-701, 1939."None>Davidenkow (1939)</a> and from Wohlfart-Kugelberg-Welander juvenile muscular atrophy. <a href="#7" class="mim-tip-reference" title="Kaeser, H. E. <strong>Scapuloperoneal muscular atrophy.</strong> Brain 88: 407-418, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5828910/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5828910</a>] [<a href="https://doi.org/10.1093/brain/88.2.407" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5828910">Kaeser (1965)</a> concluded that the scapuloperoneal syndrome is a descriptive term comprising various myopathies, peroneal muscular atrophies, and spinal muscular atrophies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5828910" 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="Emery, E. S., Fenichel, G. M., Eng, G. <strong>A spinal muscular atrophy with scapuloperoneal distribution.</strong> Arch. Neurol. 18: 129-133, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5636068/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5636068</a>] [<a href="https://doi.org/10.1001/archneur.1968.00470320031003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5636068">Emery et al. (1968)</a> and <a href="#11" class="mim-tip-reference" title="Schuchmann, L. <strong>Spinal muscular atrophy of the scapulo-peroneal type.</strong> Z. Kinderheilk. 109: 118-123, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5494204/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5494204</a>] [<a href="https://doi.org/10.1007/BF00438809" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5494204">Schuchmann (1970)</a> reported sporadic childhood cases with electromyographic and biopsy evidence of neurogenic disease; motor nerve conduction velocities were borderline or normal, suggesting anterior horn cell pathology. <a href="#8" class="mim-tip-reference" title="Kazakov, V. M., Bogorodinsky, D. K., Skorometz, A. A. <strong>The myogenic scapulo-peroneal syndrome. Muscular dystrophy in the K. kindred: clinical study and genetics.</strong> Clin. Genet. 10: 41-50, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/949863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">949863</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1976.tb00007.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="949863">Kazakov et al. (1976)</a> provided a follow-up on the kindred reported by <a href="#1" class="mim-tip-reference" title="Davidenkow, S. <strong>Scapuloperoneal amyotrophy.</strong> Arch. Neurol. Psychiat. 41: 694-701, 1939."None>Davidenkow (1939)</a>. The disorder in many ways resembled Landouzy-Dejerine facioscapulohumeral muscular dystrophy (<a href="/entry/158900">158900</a>). There are both myopathic (see <a href="/entry/608358">608358</a>) and neurogenic dominant forms of the scapuloperoneal syndrome. <a href="#2" class="mim-tip-reference" title="Emery, A. E. H. <strong>Personal Communication.</strong> Edinburgh, Scotland 7/9/1981."None>Emery (1981)</a> described a large kindred in the West of Scotland. <a href="#4" class="mim-tip-reference" title="Ferguson-Smith, M. A., McKusick, V. A. <strong>Personal Communication.</strong> Glasgow, Scotland and Baltimore, Md. 7/9/1981."None>Ferguson-Smith and McKusick (1981)</a> saw a brother and sister who clearly had this disorder. The sister had been diagnosed as having Charcot-Marie-Tooth disease and the brother muscular dystrophy. Their disease was neurogenic scapuloperoneal syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5636068+949863+5494204" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Tawil, R., Myers, G. J., Weiffenbach, B., Griggs, R. C. <strong>Scapuloperoneal syndromes: absence of linkage of the 4q35 FSHD locus.</strong> Arch. Neurol. 52: 1069-1072, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7487558/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7487558</a>] [<a href="https://doi.org/10.1001/archneur.1995.00540350055017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7487558">Tawil et al. (1995)</a> described a 3-generation kindred in which 7 members were affected with neurogenic scapuloperoneal syndrome in which nerve conduction velocities showed evidence of a mild demyelinating polyneuropathy and electromyography demonstrated acute and chronic denervation in both proximal and distal muscles. The proband fulfilled the diagnostic criteria for facioscapulohumeral dystrophy (<a href="/entry/158900">158900</a>), but none of the other affected members had facial weakness. Linkage to markers on 4q35 was excluded, demonstrating this to be a genetically distinct disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7487558" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Walter, M. C., Reilich, P., Huebner, A., Fischer, D., Schroder, R., Vorgerd, M., Kress, W., Born, C., Schoser, B. G., Krause, K. H., Klutzny, U. Bulst, S. Frey, J. R., Lochmuller, H. <strong>Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P.</strong> Brain 130: 1485-1496, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17439987/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17439987</a>] [<a href="https://doi.org/10.1093/brain/awm039" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17439987">Walter et al. (2007)</a> studied the large, multigenerational kindred first described by Kaeser (<a href="#6" class="mim-tip-reference" title="Kaeser, H. E. <strong>Die familiaere scapuloperoneale Muskelatrophie.</strong> Dtsch. Z. Nervenheilkd. 186: 379-394, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14326018/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14326018</a>]" pmid="14326018">1964</a>, <a href="#7" class="mim-tip-reference" title="Kaeser, H. E. <strong>Scapuloperoneal muscular atrophy.</strong> Brain 88: 407-418, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5828910/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5828910</a>] [<a href="https://doi.org/10.1093/brain/88.2.407" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5828910">1965</a>) with a peculiar scapuloperoneal distribution of weakness and atrophy, inherited in an autosomal dominant fashion, named scapuloperoneal syndrome type Kaeser. A large clinical variability was recognized, even within the same family, ranging from scapuloperoneal (n = 2, 12%), limb-girdle (n = 10, 60%), and distal phenotypes (n = 3, 18%) with variable cardiac (n = 7, 41%) or respiratory involvement (n = 7, 41%). Facial weakness, dysphagia, and gynecomastia were frequent additional symptoms. Affected men seemingly carried a higher risk of sudden, cardiac death as compared to affected women. Histologic and immunohistochemical examination of muscle biopsy specimens revealed a wide spectrum of findings ranging from near normal or unspecific pathology to typical, mild fibrillar changes with accumulation of desmin. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5828910+17439987+14326018" 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 SCPNK in the families studied by <a href="#13" class="mim-tip-reference" title="Walter, M. C., Reilich, P., Huebner, A., Fischer, D., Schroder, R., Vorgerd, M., Kress, W., Born, C., Schoser, B. G., Krause, K. H., Klutzny, U. Bulst, S. Frey, J. R., Lochmuller, H. <strong>Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P.</strong> Brain 130: 1485-1496, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17439987/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17439987</a>] [<a href="https://doi.org/10.1093/brain/awm039" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17439987">Walter et al. (2007)</a>, including the family reported by Kaeser (<a href="#6" class="mim-tip-reference" title="Kaeser, H. E. <strong>Die familiaere scapuloperoneale Muskelatrophie.</strong> Dtsch. Z. Nervenheilkd. 186: 379-394, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14326018/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14326018</a>]" pmid="14326018">1964</a>, <a href="#7" class="mim-tip-reference" title="Kaeser, H. E. <strong>Scapuloperoneal muscular atrophy.</strong> Brain 88: 407-418, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5828910/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5828910</a>] [<a href="https://doi.org/10.1093/brain/88.2.407" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5828910">1965</a>), was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5828910+17439987+14326018" 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>By genetic analysis of the original kindred described by <a href="#6" class="mim-tip-reference" title="Kaeser, H. E. <strong>Die familiaere scapuloperoneale Muskelatrophie.</strong> Dtsch. Z. Nervenheilkd. 186: 379-394, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14326018/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14326018</a>]" pmid="14326018">Kaeser (1964)</a>, <a href="#13" class="mim-tip-reference" title="Walter, M. C., Reilich, P., Huebner, A., Fischer, D., Schroder, R., Vorgerd, M., Kress, W., Born, C., Schoser, B. G., Krause, K. H., Klutzny, U. Bulst, S. Frey, J. R., Lochmuller, H. <strong>Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P.</strong> Brain 130: 1485-1496, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17439987/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17439987</a>] [<a href="https://doi.org/10.1093/brain/awm039" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17439987">Walter et al. (2007)</a> found possible linkage to the gene encoding desmin and identified a heterozygous missense mutation of the desmin gene (R350P; <a href="/entry/125660#0016">125660.0016</a>) cosegregating with the disorder. Moreover, <a href="#13" class="mim-tip-reference" title="Walter, M. C., Reilich, P., Huebner, A., Fischer, D., Schroder, R., Vorgerd, M., Kress, W., Born, C., Schoser, B. G., Krause, K. H., Klutzny, U. Bulst, S. Frey, J. R., Lochmuller, H. <strong>Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P.</strong> Brain 130: 1485-1496, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17439987/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17439987</a>] [<a href="https://doi.org/10.1093/brain/awm039" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17439987">Walter et al. (2007)</a> found the R350P mutation in 4 unrelated German families, which allowed for genotype-phenotype correlations in a total of 15 patients carrying the same mutation. This study suggested that the clinical and pathologic variability generally observed in desminopathies may not be attributed to the nature of the DES mutation alone, but may be influenced by additional genetic and epigenetic factors such as gender. <a href="#13" class="mim-tip-reference" title="Walter, M. C., Reilich, P., Huebner, A., Fischer, D., Schroder, R., Vorgerd, M., Kress, W., Born, C., Schoser, B. G., Krause, K. H., Klutzny, U. Bulst, S. Frey, J. R., Lochmuller, H. <strong>Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P.</strong> Brain 130: 1485-1496, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17439987/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17439987</a>] [<a href="https://doi.org/10.1093/brain/awm039" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17439987">Walter et al. (2007)</a> suggested that mutations of the desmin gene should be considered early in the diagnostic workup of any adult-onset, autosomal dominant myopathy, even if specific myofibrillar pathology is absent. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17439987+14326018" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Gharbi1993" class="mim-tip-reference" title="Gharbi Ben Ayed, A., Samoud, A., Ben Dridi, M. F. <strong>Amyotrophie scapulo-peroniere d'origine neurogene type Stark-Kaeser: etude d'une observation familiale.</strong> Arch. Franc. Pediat. 50: 135-137, 1993.">Gharbi Ben Ayed et al. (1993)</a>; <a href="#Ricker1968" class="mim-tip-reference" title="Ricker, K., Mertens, H. G., Schimrigk, K. <strong>The neurogenic scapuloperoneal syndrome.</strong> Europ. Neurol. 1: 257-274, 1968.">Ricker et al. (1968)</a>; <a href="#Zellweger1968" class="mim-tip-reference" title="Zellweger, H., McCormick, W. F. <strong>Scapuloperoneal dystrophy and scapuloperoneal atrophy.</strong> Helv. Paediat. Acta 23: 643-649, 1968.">Zellweger and
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Glasgow, Scotland and Baltimore, Md. 7/9/1981.
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</p>
|
|
</div>
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</li>
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<li>
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|
<a id="5" class="mim-anchor"></a>
|
|
<a id="Gharbi Ben Ayed1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gharbi Ben Ayed, A., Samoud, A., Ben Dridi, M. F.
|
|
<strong>Amyotrophie scapulo-peroniere d'origine neurogene type Stark-Kaeser: etude d'une observation familiale.</strong>
|
|
Arch. Franc. Pediat. 50: 135-137, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8343020/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8343020</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8343020" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
|
|
</div>
|
|
</li>
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<li>
|
|
<a id="6" class="mim-anchor"></a>
|
|
<a id="Kaeser1964" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kaeser, H. E.
|
|
<strong>Die familiaere scapuloperoneale Muskelatrophie.</strong>
|
|
Dtsch. Z. Nervenheilkd. 186: 379-394, 1964.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14326018/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14326018</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14326018" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
|
|
</div>
|
|
</li>
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|
|
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<li>
|
|
<a id="7" class="mim-anchor"></a>
|
|
<a id="Kaeser1965" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kaeser, H. E.
|
|
<strong>Scapuloperoneal muscular atrophy.</strong>
|
|
Brain 88: 407-418, 1965.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5828910/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5828910</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5828910" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
|
|
|
|
[<a href="https://doi.org/10.1093/brain/88.2.407" target="_blank">Full Text</a>]
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|
</p>
|
|
</div>
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|
</li>
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<li>
|
|
<a id="8" class="mim-anchor"></a>
|
|
<a id="Kazakov1976" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kazakov, V. M., Bogorodinsky, D. K., Skorometz, A. A.
|
|
<strong>The myogenic scapulo-peroneal syndrome. Muscular dystrophy in the K. kindred: clinical study and genetics.</strong>
|
|
Clin. Genet. 10: 41-50, 1976.
|
|
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/949863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">949863</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=949863" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
|
[<a href="https://doi.org/10.1111/j.1399-0004.1976.tb00007.x" target="_blank">Full Text</a>]
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|
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</p>
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|
</div>
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</li>
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<li>
|
|
<a id="9" class="mim-anchor"></a>
|
|
<a id="Palmer1932" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Palmer, H. D.
|
|
<strong>Familial scapuloperoneal amyotrophy.</strong>
|
|
Arch. Neurol. Psychiat. 28: 473-477, 1932.
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|
</p>
|
|
</div>
|
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</li>
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<li>
|
|
<a id="10" class="mim-anchor"></a>
|
|
<a id="Ricker1968" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ricker, K., Mertens, H. G., Schimrigk, K.
|
|
<strong>The neurogenic scapuloperoneal syndrome.</strong>
|
|
Europ. Neurol. 1: 257-274, 1968.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5696601/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5696601</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5696601" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
|
[<a href="https://doi.org/10.1159/000113668" target="_blank">Full Text</a>]
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|
</p>
|
|
</div>
|
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</li>
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<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="Schuchmann1970" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Schuchmann, L.
|
|
<strong>Spinal muscular atrophy of the scapulo-peroneal type.</strong>
|
|
Z. Kinderheilk. 109: 118-123, 1970.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5494204/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5494204</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5494204" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
|
[<a href="https://doi.org/10.1007/BF00438809" target="_blank">Full Text</a>]
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</p>
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|
</div>
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</li>
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<li>
|
|
<a id="12" class="mim-anchor"></a>
|
|
<a id="Tawil1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Tawil, R., Myers, G. J., Weiffenbach, B., Griggs, R. C.
|
|
<strong>Scapuloperoneal syndromes: absence of linkage of the 4q35 FSHD locus.</strong>
|
|
Arch. Neurol. 52: 1069-1072, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7487558/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7487558</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7487558" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
|
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|
|
[<a href="https://doi.org/10.1001/archneur.1995.00540350055017" target="_blank">Full Text</a>]
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</p>
|
|
</div>
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</li>
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<li>
|
|
<a id="13" class="mim-anchor"></a>
|
|
<a id="Walter2007" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Walter, M. C., Reilich, P., Huebner, A., Fischer, D., Schroder, R., Vorgerd, M., Kress, W., Born, C., Schoser, B. G., Krause, K. H., Klutzny, U. Bulst, S. Frey, J. R., Lochmuller, H.
|
|
<strong>Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P.</strong>
|
|
Brain 130: 1485-1496, 2007.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17439987/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17439987</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17439987" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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[<a href="https://doi.org/10.1093/brain/awm039" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="14" class="mim-anchor"></a>
|
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<a id="Zellweger1968" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Zellweger, H., McCormick, W. F.
|
|
<strong>Scapuloperoneal dystrophy and scapuloperoneal atrophy.</strong>
|
|
Helv. Paediat. Acta 23: 643-649, 1968.
|
|
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5717695/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5717695</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5717695" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
|
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
|
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</span>
|
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</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Victor A. McKusick - updated : 2/19/2008
|
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</span>
|
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</div>
|
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</div>
|
|
<div class="row collapse" id="mimCollapseContributors">
|
|
<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
|
Cassandra L. Kniffin - updated : 7/2/2002<br>Orest Hurko - updated : 2/22/1996
|
|
</span>
|
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</div>
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</div>
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</div>
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<div>
|
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<a id="creationDate" class="mim-anchor"></a>
|
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<div class="row">
|
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
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<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
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</span>
|
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</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Victor A. McKusick : 6/2/1986
|
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</span>
|
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</div>
|
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</div>
|
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
|
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
|
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
|
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</span>
|
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</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
|
|
alopez : 02/24/2025
|
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</span>
|
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</div>
|
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</div>
|
|
<div class="row collapse" id="mimCollapseEditHistory">
|
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
|
alopez : 02/24/2025<br>carol : 10/02/2023<br>alopez : 03/20/2023<br>carol : 12/25/2022<br>joanna : 03/24/2017<br>carol : 08/08/2016<br>carol : 04/24/2012<br>terry : 10/13/2010<br>alopez : 2/22/2008<br>alopez : 2/22/2008<br>terry : 2/19/2008<br>mgross : 3/17/2004<br>carol : 7/2/2002<br>ckniffin : 7/2/2002<br>carol : 6/28/2002<br>alopez : 3/13/1998<br>jamie : 10/25/1996<br>mark : 10/23/1996<br>terry : 10/7/1996<br>terry : 4/15/1996<br>mark : 2/22/1996<br>terry : 2/12/1996<br>mimadm : 3/25/1995<br>davew : 7/18/1994<br>carol : 4/28/1994<br>warfield : 4/21/1994<br>supermim : 3/16/1992<br>carol : 8/7/1991
|
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
|
|
<span class="mim-font">
|
|
<strong>#</strong> 181400
|
|
</span>
|
|
</h3>
|
|
</div>
|
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|
|
<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE; SCPNK
|
|
|
|
</span>
|
|
</h3>
|
|
</div>
|
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<div>
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<br />
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</div>
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<div>
|
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<div >
|
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<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
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</span>
|
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</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
KAESER SYNDROME<br />
|
|
STARK-KAESER SYNDROME<br />
|
|
SCAPULOPERONEAL SYNDROME, NEUROGENIC TYPE, OF KAESER
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<p>
|
|
<span class="mim-text-font">
|
|
|
|
<strong>SNOMEDCT:</strong> 1208615009;
|
|
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|
|
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|
|
<strong>ORPHA:</strong> 85146;
|
|
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|
|
|
<strong>DO:</strong> 0111551;
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
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|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
2q35
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Scapuloperoneal syndrome, neurogenic, Kaeser type
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
181400
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
DES
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
125660
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
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<div>
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<br />
|
|
</div>
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<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
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<p>A number sign (#) is used with this entry because of evidence that Kaeser-type neurogenic scapuloperoneal syndrome (SCPNK) is caused by heterozygous mutation in the DES gene (125660) on chromosome 2q35.</p>
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<strong>Description</strong>
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<p>Kaeser-type neurogenic scapuloperoneal syndrome (SCPNK) is an autosomal dominant myopathy with a highly variable clinical and morphologic phenotype, even within the same family. Weakness may be scapuloperoneal, limb-girdle, or distal, with variable cardiac or respiratory involvement. Facial weakness, dysphagia, and gynecomastia frequently occur (summary by Walter et al., 2007). </p>
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<strong>Clinical Features</strong>
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<p>Peroneal atrophy is accompanied by bilateral foot drop and talipes equinovarus. Following atrophy of the lower legs, the shoulder girdle is involved. Bulbar involvement is late. Autopsy shows muscular atrophy and involvement of caudal cranial nuclei. Palmer (1932) described a family with 8 persons affected, the earliest having onset about 1800. Davidenkow (1939) suggested that cases reported by Wohlfart (see juvenile muscular atrophy, 253400 and 158600) were the same as those he designated scapuloperoneal amyotrophy.</p><p>Kaeser (1965) reported a kindred (kindred F) in which 12 members in 5 generations had neurogenic scapuloperoneal syndrome in an autosomal dominant pattern of inheritance. Age at onset was between 30 and 50 years and followed a slowly progressive course. In the first 3 generations, weakness and atrophy started in the legs and spread to the thighs and pelvic girdle, resulting in paraplegia. In the fifth generation, the atrophies extended to the shoulder girdle, upper arms, neck, face, pharynx, and external eye muscles. Histologic examination at autopsy in 1 patient showed that the atrophies were neurogenic in origin, similar to those in Wohlfart-Kugelberg-Welander muscular atrophy. Kindred F, however, demonstrated significant differences from the cases reported by Davidenkow (1939) and from Wohlfart-Kugelberg-Welander juvenile muscular atrophy. Kaeser (1965) concluded that the scapuloperoneal syndrome is a descriptive term comprising various myopathies, peroneal muscular atrophies, and spinal muscular atrophies. </p><p>Emery et al. (1968) and Schuchmann (1970) reported sporadic childhood cases with electromyographic and biopsy evidence of neurogenic disease; motor nerve conduction velocities were borderline or normal, suggesting anterior horn cell pathology. Kazakov et al. (1976) provided a follow-up on the kindred reported by Davidenkow (1939). The disorder in many ways resembled Landouzy-Dejerine facioscapulohumeral muscular dystrophy (158900). There are both myopathic (see 608358) and neurogenic dominant forms of the scapuloperoneal syndrome. Emery (1981) described a large kindred in the West of Scotland. Ferguson-Smith and McKusick (1981) saw a brother and sister who clearly had this disorder. The sister had been diagnosed as having Charcot-Marie-Tooth disease and the brother muscular dystrophy. Their disease was neurogenic scapuloperoneal syndrome. </p><p>Tawil et al. (1995) described a 3-generation kindred in which 7 members were affected with neurogenic scapuloperoneal syndrome in which nerve conduction velocities showed evidence of a mild demyelinating polyneuropathy and electromyography demonstrated acute and chronic denervation in both proximal and distal muscles. The proband fulfilled the diagnostic criteria for facioscapulohumeral dystrophy (158900), but none of the other affected members had facial weakness. Linkage to markers on 4q35 was excluded, demonstrating this to be a genetically distinct disorder. </p><p>Walter et al. (2007) studied the large, multigenerational kindred first described by Kaeser (1964, 1965) with a peculiar scapuloperoneal distribution of weakness and atrophy, inherited in an autosomal dominant fashion, named scapuloperoneal syndrome type Kaeser. A large clinical variability was recognized, even within the same family, ranging from scapuloperoneal (n = 2, 12%), limb-girdle (n = 10, 60%), and distal phenotypes (n = 3, 18%) with variable cardiac (n = 7, 41%) or respiratory involvement (n = 7, 41%). Facial weakness, dysphagia, and gynecomastia were frequent additional symptoms. Affected men seemingly carried a higher risk of sudden, cardiac death as compared to affected women. Histologic and immunohistochemical examination of muscle biopsy specimens revealed a wide spectrum of findings ranging from near normal or unspecific pathology to typical, mild fibrillar changes with accumulation of desmin. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of SCPNK in the families studied by Walter et al. (2007), including the family reported by Kaeser (1964, 1965), was consistent with autosomal dominant inheritance. </p>
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<strong>Molecular Genetics</strong>
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<p>By genetic analysis of the original kindred described by Kaeser (1964), Walter et al. (2007) found possible linkage to the gene encoding desmin and identified a heterozygous missense mutation of the desmin gene (R350P; 125660.0016) cosegregating with the disorder. Moreover, Walter et al. (2007) found the R350P mutation in 4 unrelated German families, which allowed for genotype-phenotype correlations in a total of 15 patients carrying the same mutation. This study suggested that the clinical and pathologic variability generally observed in desminopathies may not be attributed to the nature of the DES mutation alone, but may be influenced by additional genetic and epigenetic factors such as gender. Walter et al. (2007) suggested that mutations of the desmin gene should be considered early in the diagnostic workup of any adult-onset, autosomal dominant myopathy, even if specific myofibrillar pathology is absent. </p>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Gharbi Ben Ayed et al. (1993); Ricker et al. (1968); Zellweger and
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McCormick (1968)
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</h4>
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<p class="mim-text-font">
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Davidenkow, S.
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<strong>Scapuloperoneal amyotrophy.</strong>
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Arch. Neurol. Psychiat. 41: 694-701, 1939.
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</p>
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</li>
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<p class="mim-text-font">
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Emery, A. E. H.
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<strong>Personal Communication.</strong>
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Edinburgh, Scotland 7/9/1981.
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<p class="mim-text-font">
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Emery, E. S., Fenichel, G. M., Eng, G.
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<strong>A spinal muscular atrophy with scapuloperoneal distribution.</strong>
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Arch. Neurol. 18: 129-133, 1968.
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[PubMed: 5636068]
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[Full Text: https://doi.org/10.1001/archneur.1968.00470320031003]
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<li>
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<p class="mim-text-font">
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Ferguson-Smith, M. A., McKusick, V. A.
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<strong>Personal Communication.</strong>
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Glasgow, Scotland and Baltimore, Md. 7/9/1981.
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Gharbi Ben Ayed, A., Samoud, A., Ben Dridi, M. F.
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<strong>Amyotrophie scapulo-peroniere d'origine neurogene type Stark-Kaeser: etude d'une observation familiale.</strong>
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Arch. Franc. Pediat. 50: 135-137, 1993.
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[PubMed: 8343020]
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<p class="mim-text-font">
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Kaeser, H. E.
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<strong>Die familiaere scapuloperoneale Muskelatrophie.</strong>
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Dtsch. Z. Nervenheilkd. 186: 379-394, 1964.
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[PubMed: 14326018]
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<p class="mim-text-font">
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Kaeser, H. E.
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<strong>Scapuloperoneal muscular atrophy.</strong>
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Brain 88: 407-418, 1965.
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[PubMed: 5828910]
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[Full Text: https://doi.org/10.1093/brain/88.2.407]
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Kazakov, V. M., Bogorodinsky, D. K., Skorometz, A. A.
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<strong>The myogenic scapulo-peroneal syndrome. Muscular dystrophy in the K. kindred: clinical study and genetics.</strong>
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Clin. Genet. 10: 41-50, 1976.
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[PubMed: 949863]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1976.tb00007.x]
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Palmer, H. D.
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<strong>Familial scapuloperoneal amyotrophy.</strong>
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Arch. Neurol. Psychiat. 28: 473-477, 1932.
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Ricker, K., Mertens, H. G., Schimrigk, K.
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<strong>The neurogenic scapuloperoneal syndrome.</strong>
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Europ. Neurol. 1: 257-274, 1968.
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[PubMed: 5696601]
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[Full Text: https://doi.org/10.1159/000113668]
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Schuchmann, L.
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<strong>Spinal muscular atrophy of the scapulo-peroneal type.</strong>
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Z. Kinderheilk. 109: 118-123, 1970.
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[PubMed: 5494204]
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[Full Text: https://doi.org/10.1007/BF00438809]
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Tawil, R., Myers, G. J., Weiffenbach, B., Griggs, R. C.
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<strong>Scapuloperoneal syndromes: absence of linkage of the 4q35 FSHD locus.</strong>
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Arch. Neurol. 52: 1069-1072, 1995.
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[PubMed: 7487558]
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[Full Text: https://doi.org/10.1001/archneur.1995.00540350055017]
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Walter, M. C., Reilich, P., Huebner, A., Fischer, D., Schroder, R., Vorgerd, M., Kress, W., Born, C., Schoser, B. G., Krause, K. H., Klutzny, U. Bulst, S. Frey, J. R., Lochmuller, H.
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<strong>Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P.</strong>
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Brain 130: 1485-1496, 2007.
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[PubMed: 17439987]
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[Full Text: https://doi.org/10.1093/brain/awm039]
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Zellweger, H., McCormick, W. F.
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<strong>Scapuloperoneal dystrophy and scapuloperoneal atrophy.</strong>
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Helv. Paediat. Acta 23: 643-649, 1968.
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[PubMed: 5717695]
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Victor A. McKusick - updated : 2/19/2008<br>Cassandra L. Kniffin - updated : 7/2/2002<br>Orest Hurko - updated : 2/22/1996
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<p>
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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