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Entry
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- #300376 - MUSCULAR DYSTROPHY, BECKER TYPE; BMD
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- OMIM
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<p>
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<span class="h4">#300376</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/300376"><strong>Clinical Synopsis</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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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#otherFeatures">Other Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<a href="#diagnosis">Diagnosis</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#history">History</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=MUSCULAR DYSTROPHY, BECKER TYPE" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=13912&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.ncbi.nlm.nih.gov/books/NBK1119/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/771" 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=300376[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.acmg.net/PDFLibrary/DMD_Pathogenic_Variants.pdf" class="mim-tip-hint" title="Information and resources for newborn screening and genetics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Newborn Screening', 'domain': 'www.acmg.net'})">Newborn Screening</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98895" 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 class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:9883" 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/300376" 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://omia.org/OMIA001888/" 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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<div><a href="https://wormbase.org/resources/disease/DOID:9883" 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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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</a>
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</span>
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</span>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:300376" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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</div>
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</div>
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</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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</span>
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</span>
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</div>
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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">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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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> 387732009<br />
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<strong>ORPHA:</strong> 98895<br />
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<strong>DO:</strong> 9883<br />
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">ICD+</a>
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</div>
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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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300376
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</span>
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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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MUSCULAR DYSTROPHY, BECKER TYPE; BMD
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</span>
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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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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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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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BECKER MUSCULAR DYSTROPHY<br />
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MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, BECKER TYPE
|
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</span>
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</h4>
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</div>
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</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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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
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</h4>
|
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
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<th>
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|
Phenotype
|
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</th>
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<th>
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|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
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Inheritance
|
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</th>
|
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<th>
|
|
Phenotype <br /> mapping key
|
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</th>
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<th>
|
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Gene/Locus
|
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</th>
|
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<th>
|
|
Gene/Locus <br /> MIM number
|
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</th>
|
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</tr>
|
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</thead>
|
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<tbody>
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<tr>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/geneMap/X/149?start=-3&limit=10&highlight=149">
|
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Xp21.2-p21.1
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</a>
|
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
Becker muscular dystrophy
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/300376"> 300376 </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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|
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<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
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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>
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</td>
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<td>
|
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<span class="mim-font">
|
|
DMD
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/300377"> 300377 </a>
|
|
</span>
|
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</td>
|
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</tr>
|
|
|
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</tbody>
|
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</table>
|
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</div>
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</div>
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<div>
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<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/300376" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
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</div>
|
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|
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/300376" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/300376" 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>
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|
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<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
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|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- X-linked recessive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845977&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845977</a>, <a href="https://bioportal.bioontology.org/search?q=C1279481&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1279481</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
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</div>
|
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|
|
</div>
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cardiomyopathy, late onset <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806622&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806622</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/85898001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">85898001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57809008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57809008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I51.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I51.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I42" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I42</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I42.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I42.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/425" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">425</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001638" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001638</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MUSCLE, SOFT TISSUES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Calf and thigh cramping muscle pains <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806621&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806621</a>]</span><br /> -
|
|
Calf muscle pseudohypertrophy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839666&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839666</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003707" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003707</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003707" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003707</a>]</span><br /> -
|
|
Weakness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13791008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13791008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R53.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R53.81</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R53.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R53.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/799.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">799.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3714552&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714552</a>, <a href="https://bioportal.bioontology.org/search?q=C0004093&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0004093</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025406" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025406</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025406" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025406</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">
|
|
|
|
- Hyporeflexia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/835279003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">835279003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405946002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405946002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0700078&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700078</a>, <a href="https://bioportal.bioontology.org/search?q=C0151888&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151888</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001265" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001265</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001315" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001315</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001265" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001265</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
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|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- High 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 /> -
|
|
Abnormal electrocardiogram <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/102594003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">102594003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0522055&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0522055</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003115" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003115</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003115" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003115</a>]</span><br /> -
|
|
Abnormal dystrophin on muscle biopsy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3151712&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3151712</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">
|
|
|
|
- Usual age of onset in the 20s and 30s<br /> -
|
|
Survival to advanced age<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the dystrophin gene (DMD, <a href="/entry/300377#0002">300377.0002</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
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|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
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</div>
|
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<div>
|
|
<br />
|
|
</div>
|
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|
|
|
|
|
|
<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">▼</span>
|
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|
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<span class="mim-font">
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<p>A number sign (#) is used with this entry because Becker muscular dystrophy (BMD), like Duchenne muscular dystrophy (DMD; <a href="/entry/310200">310200</a>), is caused by mutation in the gene encoding dystrophin (DMD; <a href="/entry/300377">300377</a>) on chromosome Xp21.</p>
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<p>The muscular dystrophy that carries the Becker eponym is similar to Duchenne muscular dystrophy in the distribution of muscle wasting and weakness, which is mainly proximal, but the course is more benign, with age of onset around 12 years; some patients have no symptoms until much later in life. Loss of ambulation also varies from adolescence onward, with death usually in the fourth or fifth decade. In some cases, as in Duchenne muscular dystrophy, a degree of mental impairment is present (<a href="#13" class="mim-tip-reference" title="Emery, A. E. H. <strong>The muscular dystrophies.</strong> Lancet 359: 687-695, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11879882/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11879882</a>] [<a href="https://doi.org/10.1016/S0140-6736(02)07815-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11879882">Emery, 2002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11879882" 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>As in DMD, about 5 to 10% of female carriers of this X-linked disorder show muscle weakness, and frequently enlarged calves--so-called manifesting heterozygotes. Such weakness is often asymmetric; it can develop in childhood or not become evident until adult life, and can be slowly progressive or remain static. Because weakness is essentially proximal, differentiation from limb-girdle muscular dystrophy is essential for genetic counseling. In both DMD and BMD, female carriers may develop dilated cardiomyopathy in the absence of apparent weakness (<a href="#19" class="mim-tip-reference" title="Grain, L., Cortina-Borja, M., Forfar, C., Hilton-Jones, D., Hopkin, J., Burch, M. <strong>Cardiac abnormalities and skeletal muscle weakness in carriers of Duchenne and Becker muscular dystrophies and controls.</strong> Neuromusc. Disord. 11: 186-191, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11257476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11257476</a>] [<a href="https://doi.org/10.1016/s0960-8966(00)00185-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11257476">Grain et al., 2001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11257476" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#8" class="mim-tip-reference" title="Bush, A., Dubowitz, V. <strong>Fatal rhabdomyolysis complicating general anaesthesia in a child with Becker muscular dystrophy.</strong> Neuromusc. Disord. 1: 201-204, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1822795/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1822795</a>] [<a href="https://doi.org/10.1016/0960-8966(91)90025-n" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1822795">Bush and Dubowitz (1991)</a> described fatal rhabdomyolysis complicating general anesthesia in a child with Becker muscular dystrophy. Exertional cramping and probable myoglobinuria was described by <a href="#9" class="mim-tip-reference" title="Bushby, K. M. D., Cleghorn, N. J., Curtis, A., Haggerty, I. D., Nicholson, L. V. B., Johnson, M. A., Harris, J. B., Bhattacharya, S. S. <strong>Identification of a mutation in the promoter region of the dystrophin gene in a patient with atypical Becker muscular dystrophy.</strong> Hum. Genet. 88: 195-199, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1757094/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1757094</a>] [<a href="https://doi.org/10.1007/BF00206071" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1757094">Bushby et al. (1991)</a> in a patient with atypical Becker muscular dystrophy (see <a href="/entry/300377#0002">300377.0002</a>). <a href="#27" class="mim-tip-reference" title="Minetti, C., Tanji, K., Chang, H. W., Medori, R., Cordone, G., DiMauro, S., Bonilla, E. <strong>Dystrophinopathy in two young boys with exercise-induced cramps and myoglobinuria.</strong> Europ. J. Pediat. 152: 848-851, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8223790/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8223790</a>] [<a href="https://doi.org/10.1007/BF02073385" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8223790">Minetti et al. (1993)</a> described 2 unrelated 9-year-old boys with exercise-induced cramps and myoglobinuria associated with elevated serum levels of creatine kinase. DNA analysis of the dystrophin gene was uninformative in 1 patient; in the other, it revealed an in-frame deletion comprising exons 3-6. <a href="#17" class="mim-tip-reference" title="Gospe, S. M., Jr., Lazaro, R. P., Lava, N. S., Grootscholten, P. M., Scott, M. O., Fischbeck, K. H. <strong>Familial X-linked myalgia and cramps: a nonprogressive myopathy associated with a deletion in the dystrophin gene.</strong> Neurology 39: 1277-1280, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2677830/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2677830</a>] [<a href="https://doi.org/10.1212/wnl.39.10.1277" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2677830">Gospe et al. (1989)</a> and <a href="#10" class="mim-tip-reference" title="Doriguzzi, C., Palmucci, L., Mongini, T., Chiado-Piat, L., Restagno, G., Ferrone, M. <strong>Exercise intolerance and recurrent myoglobinuria as the only expression of Xp21 Becker type muscular dystrophy.</strong> J. Neurol. 240: 269-271, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8326329/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8326329</a>] [<a href="https://doi.org/10.1007/BF00838159" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8326329">Doriguzzi et al. (1993)</a> also described exercise intolerance and recurrent myoglobinuria as the only expression of BMD. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8326329+8223790+1757094+2677830+1822795" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#36" class="mim-tip-reference" title="Piccolo, G., Azan, G., Tonin, P., Arbustini, E., Gavazzi, A., Banfi, P., Mora, M., Morandi, L., Tedeschi, S. <strong>Dilated cardiomyopathy requiring cardiac transplantation as initial manifestation of Xp21 Becker type muscular dystrophy.</strong> Neuromusc. Disord. 4: 143-146, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8012195/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8012195</a>] [<a href="https://doi.org/10.1016/0960-8966(94)90006-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8012195">Piccolo et al. (1994)</a> described a 32-year-old man in whom cardiac transplantation was performed for end-stage dilated cardiomyopathy and who showed a progressive increase in serum creatine kinase level while receiving cyclosporin and simvastatine immunosuppressive treatment. Revised family history led to a suspicion of X-linked inherited myopathy which was confirmed by muscle biopsy findings. Molecular genetic studies demonstrated a deletion spanning exons 45-47 at the DMD locus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8012195" 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="#16" class="mim-tip-reference" title="Fujii, K., Minami, N., Hayashi, Y., Nishino, I., Nonaka, I., Tanabe, Y., Takanashi, J., Kohno, Y. <strong>Homozygous female Becker muscular dystrophy.</strong> Am. J. Med. Genet. 149A: 1052-1055, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19396825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19396825</a>] [<a href="https://doi.org/10.1002/ajmg.a.32808" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19396825">Fujii et al. (2009)</a> reported what they believed is the first case of true Becker muscular dystrophy in a Japanese girl born of consanguineous parents. She presented at age 14 years with a 7-year history of exercise intolerance with myalgia, swelling of the thigh muscle, and red-brown urine consistent with myoglobinuria. Laboratory studies showed increased serum creatine kinase and myoglobin in the urine, but no cardiac abnormalities. Her clinically unaffected father had mildly increased serum creatine kinase and urinary myoglobin, and her clinically unaffected mother had no symptoms. Skeletal muscle biopsy of the proband showed mild dystrophic changes and faint staining for dystrophin, consistent with Becker muscular dystrophy. Molecular genetic analysis identified a homozygous deletion of exons 45 to 55 of the DMD gene, predicting an in-frame deletion of 593 residues. Each parent was heterozygous for the deletion. There was a remote family history of cardiac disease in several males. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19396825" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#45" class="mim-tip-reference" title="Zatz, M., Vallada, H., Melo, M. S., Passos-Bueno, M. R., Vieira, A. H. G., Vainzof, M., Gill, M., Gentil, V. <strong>Cosegregation of schizophrenia with Becker muscular dystrophy: susceptibility locus for schizophrenia at Xp21 or an effect of the dystrophin gene in the brain?</strong> J. Med. Genet. 30: 131-134, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8445617/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8445617</a>] [<a href="https://doi.org/10.1136/jmg.30.2.131" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8445617">Zatz et al. (1993)</a> described an instructive pedigree in which 4 of 5 adult patients with BMD also had schizophrenia or related spectrum disorders. They considered 2 alternative hypotheses: the existence of a susceptibility locus for the mental illnesses at Xp21; or the possibility that these psychiatric disorders result from an abnormality in the expression of the dystrophin gene in the brain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8445617" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Bardoni, A., Sironi, M., Felisari, G., Comi, G. P., Bresolin, N. <strong>Absence of brain Dp140 isoform and cognitive impairment in Becker muscular dystrophy.</strong> Lancet 353: 897-898, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10093987/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10093987</a>] [<a href="https://doi.org/10.1016/S0140-6736(98)05801-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10093987">Bardoni et al. (1999)</a> studied 24 BMD patients. Mental retardation, defined as a full IQ less than or equal to 75, was present in 6 of the 24 (25%). Mean FIQ level in the whole BMD group was 88.2. All patients with FIQ greater than 75 presented no deletions in the Dp140 regulatory sequences. A deletion including the Dp140 regulatory region was found in 5 of the 6 mentally retarded patients. The study provided evidence that the absence of Dp140 may determine the occurrence of cognitive impairment in BMD patients. <a href="#28" class="mim-tip-reference" title="Moizard, M. P., Billard, C., Toutain, A., Berret, F., Marmin, N., Moraine, C. <strong>Are Dp71 and Dp140 brain dystrophin isoforms related to cognitive impairment in Duchenne muscular dystrophy?</strong> Am. J. Med. Genet. 80: 32-41, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9800909/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9800909</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19981102)80:1<32::aid-ajmg6>3.0.co;2-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9800909">Moizard et al. (1998)</a> had previously highlighted the importance of Dp140 for mental retardation in patients with Duchenne muscular dystrophy, yet the absence of full-length dystrophin transcripts in BMD made it more difficult to understand the functional role of each single isoform. Close correlation between Dp140 and mental retardation in BMD indirectly threw light on the role of Dp140 in DMD as well. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10093987+9800909" 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>Several affected males in the large kindred reported by <a href="#4" class="mim-tip-reference" title="Becker, P. E. <strong>Neue Ergebnisse der Genetik der Muskeldystrophien.</strong> Acta Genet. Statist. Med. 7: 303-310, 1957.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13469170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13469170</a>]" pmid="13469170">Becker (1957)</a> had produced children and the resulting pedigree pattern was consistent with X-linked inheritance. Others have described such families. Allelism with the Duchenne type was considered possible and in the 1980s was proved by molecular genetic studies. (There is more than one form of X-linked, late-onset muscular dystrophy; Emery-Dreifuss muscular dystrophy (<a href="/entry/310300">310300</a>) is the other principal form. It is determined by a mutation on Xq28, which disrupts a gene encoding emerin (<a href="/entry/300384">300384</a>).) <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13469170" 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>Kingston et al. (<a href="#24" class="mim-tip-reference" title="Kingston, H. M., Thomas, N. S. T., Pearson, P. L., Sarfarazi, M., Harper, P. S. <strong>Genetic linkage between Becker muscular dystrophy and a polymorphic DNA sequence on the short arm of the X chromosome.</strong> J. Med. Genet. 20: 255-258, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6620324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6620324</a>] [<a href="https://doi.org/10.1136/jmg.20.4.255" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6620324">1983</a>, <a href="#23" class="mim-tip-reference" title="Kingston, H. M., Sarfarazi, M., Thomas, N. S. T., Harper, P. S. <strong>Localisation of the Becker muscular dystrophy gene on the short arm of the X chromosome by linkage to cloned DNA sequences.</strong> Hum. Genet. 67: 6-17, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6086495/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6086495</a>] [<a href="https://doi.org/10.1007/BF00270551" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6086495">1984</a>) found linkage of BMD with the cloned sequence L1.28 (designated DXS7 by the seventh Human Gene Mapping Workshop in Los Angeles; D = DNA, X = X chromosome, S = segment, 7 = sequence of delineation). The interval was estimated to be about 16 cM, which is also the approximate interval between DXS7 and DMD. DXS7 is located between Xp11.0 and Xp11.3. Thus, these 2 forms of X-linked muscular dystrophy appeared to be allelic, a possibility also supported by the finding of both severe and mild disease (Duchenne and Becker, if you will) in females with X-autosome translocations. Contrary to reports of others, <a href="#23" class="mim-tip-reference" title="Kingston, H. M., Sarfarazi, M., Thomas, N. S. T., Harper, P. S. <strong>Localisation of the Becker muscular dystrophy gene on the short arm of the X chromosome by linkage to cloned DNA sequences.</strong> Hum. Genet. 67: 6-17, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6086495/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6086495</a>] [<a href="https://doi.org/10.1007/BF00270551" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6086495">Kingston et al. (1984)</a> found no evidence of linkage of BMD to colorblindness; Xg also showed no linkage. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6086495+6620324" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#39" class="mim-tip-reference" title="Roncuzzi, L., Fadda, S., Mochi, M., Prosperi, L., Sangiorgi, S., Santamaria, R., Sbarra, D., Besana, D., Morandi, L., Rocchi, M., Romeo, G. <strong>Mapping of X-linked Becker muscular dystrophy through crossovers identified by DNA polymorphisms and by haplotype characterization in somatic cell hybrids.</strong> Am. J. Hum. Genet. 37: 407-417, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2984927/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2984927</a>]" pmid="2984927">Roncuzzi et al. (1985)</a> used 10 X-linked DNA polymorphisms (5 on Xp and 5 on Xq) to map the Becker locus in 2 pedigrees. They narrowed the position on Xp. They pointed out that by somatic cell hybridization the constitution of recombinant chromosomes and linkage phase can be determined, e.g., in cases in which the maternal grandfather is not available. They suggested that this approach may be particularly useful for rare X-linked disorders such as Lowe syndrome and Hunter syndrome, that the recombinant X chromosomes should be maintained as fibroblasts or lymphoblastoid cells in cell repositories, and that the approach is also useful in autosomal mapping. <a href="#7" class="mim-tip-reference" title="Brown, C. S., Pearson, P. L., Thomas, N. S. T., Sarfarazi, M., Harper, P. S., Shaw, D. J. <strong>Linkage analysis of a DNA polymorphism proximal to the Duchenne and Becker muscular dystrophy loci on the short arm of the X chromosome.</strong> J. Med. Genet. 22: 179-181, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2989525/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2989525</a>] [<a href="https://doi.org/10.1136/jmg.22.3.179" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2989525">Brown et al. (1985)</a> and <a href="#15" class="mim-tip-reference" title="Fadda, S., Mochi, M., Roncuzzi, L., Sangiorgi, S., Sbarra, D., Zatz, M., Romeo, G. <strong>Definitive localization of Becker muscular dystrophy in Xp by linkage to a cluster of DNA polymorphisms (DXS43 and DXS9).</strong> Hum. Genet. 71: 33-36, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2993155/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2993155</a>] [<a href="https://doi.org/10.1007/BF00295664" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2993155">Fadda et al. (1985)</a> also assigned BMD to Xp by linkage to RFLPs. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2993155+2989525+2984927" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#20" class="mim-tip-reference" title="Grimm, T. <strong>Genetic counseling in Becker type X-linked muscular dystrophy. II. Practical considerations.</strong> Am. J. Med. Genet. 18: 719-723, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6486170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6486170</a>] [<a href="https://doi.org/10.1002/ajmg.1320180418" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6486170">Grimm (1984)</a> commented on the problems of genetic counseling arising from the difficulties in distinguishing the milder Becker muscular dystrophy from autosomal recessive limb-girdle muscular dystrophy. A daughter of a man with the latter condition has virtually no risk of affected children, whereas half the sons of a daughter of a man with Becker muscular dystrophy are expected to be affected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6486170" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a 12-year prospective study in the Campania region of southern Italy, <a href="#32" class="mim-tip-reference" title="Nigro, G., Comi, L. I., Limongelli, F. M., Giugliano, M. A. M., Politano, L., Petretta, V., Passamano, L., Stefanelli, S. <strong>Prospective study of X-linked progressive muscular dystrophy in Campania.</strong> Muscle Nerve 6: 253-262, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6683357/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6683357</a>] [<a href="https://doi.org/10.1002/mus.880060403" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6683357">Nigro et al. (1983)</a> found an incidence of DMD of 21.7 per 100,000 male live births and of BMD of 3.2 per 100,000. The latter might be underestimated because of lesser severity but surely not to an extent to explain an incidence one-seventh of that of DMD. Of the DMD patients, 38.5% were familial; of the BMD cases, 50%. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6683357" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#31" class="mim-tip-reference" title="Mostacciuolo, M. L., Lombardi, A., Cambissa, V., Danieli, G. A., Angelini, C. <strong>Population data on benign and severe forms of X-linked muscular dystrophy.</strong> Hum. Genet. 75: 217-220, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3557448/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3557448</a>] [<a href="https://doi.org/10.1007/BF00281062" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3557448">Mostacciuolo et al. (1987)</a> presented population data on the incidence and prevalence of the Becker and Duchenne forms of muscular dystrophy and estimated mutation rates for each. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3557448" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#29" class="mim-tip-reference" title="Monaco, A. P., Bertelson, C. J., Liechti-Gallati, S., Moser, H., Kunkel, L. M. <strong>An explanation for phenotypic differences between patients bearing partial deletions of DMD locus.</strong> Genomics 2: 90-95, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3384440/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3384440</a>] [<a href="https://doi.org/10.1016/0888-7543(88)90113-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3384440">Monaco et al. (1988)</a> provided an explanation for the phenotypic differences between DMD and BMD: although no fundamental difference in the size of deletions at the locus appeared to be present in the 2 forms of disease, the deletions in DMD caused frameshifts while those in BMD did not. This finding is consistent with the fact that most patients with DMD are found to have no dystrophin protein in muscle, whereas patients with BMD are found to have an abnormally short variety (or, in 1 case, an abnormally long variety) of dystrophin. Presumably the dystrophin protein that is formed in BMD is partially functional. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3384440" 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="#14" class="mim-tip-reference" title="England, S. B., Nicholson, L. V. B., Johnson, M. A., Forrest, S. M., Love, D. R., Zubrzycka-Gaarn, E. E., Bulman, D. E., Harris, J. B., Davies, K. E. <strong>Very mild muscular dystrophy associated with the deletion of 46% dystrophin.</strong> Nature 343: 180-182, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2404210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2404210</a>] [<a href="https://doi.org/10.1038/343180a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2404210">England et al. (1990)</a> demonstrated that a family segregating for a very mild BMD (1 affected member was still ambulant at age 61) had a mutation that removed the central part of the dystrophin gene encompassing 5,106 bp of coding sequence, almost half the coding information. Immunologic analysis of muscle from one of the patients showed that the mutation resulted in the production of a truncated polypeptide localized correctly in the muscle cell. Immunostaining with antibody against the central part of the dystrophin molecule resulted in no staining of muscle membranes; immunostaining with antibody against the N- and C-terminal portions did yield muscle membrane staining. They concluded that the findings are meaningful in the context of gene therapy which would be facilitated by the replacement of the very large DMD gene with a more manipulatable mini-gene construct. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2404210" 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="#34" class="mim-tip-reference" title="Norman, A. M., Thomas, N. S. T., Kingston, H. M., Harper, P. S. <strong>Becker muscular dystrophy: correlation of deletion type with clinical severity.</strong> J. Med. Genet. 27: 236-239, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2325103/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2325103</a>] [<a href="https://doi.org/10.1136/jmg.27.4.236" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2325103">Norman et al. (1990)</a> found deletions of the dystrophin gene in 41 (71%) of 58 separate BMD families. In 34 (83%) of these families, the deletion started in the same intron near the center of the gene. <a href="#33" class="mim-tip-reference" title="Nordenskjold, M., Nicholson, L., Edstrom, L., Anvret, M., Eiserman, M., Slater, C., Stolpe, L. <strong>A normal male with an inherited deletion of one exon within the DMD gene.</strong> Hum. Genet. 84: 207-209, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2404853/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2404853</a>] [<a href="https://doi.org/10.1007/BF00208944" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2404853">Nordenskjold et al. (1990)</a> described 2 brothers with identical inherited deletions of a single exon in the middle of the DMD gene. One brother had Becker muscular dystrophy, diagnosed at age 11, whereas the older brother was normal at age 18. It appears that some additional factor precipitated the expression of the disease in the younger brother. In the family reported by <a href="#14" class="mim-tip-reference" title="England, S. B., Nicholson, L. V. B., Johnson, M. A., Forrest, S. M., Love, D. R., Zubrzycka-Gaarn, E. E., Bulman, D. E., Harris, J. B., Davies, K. E. <strong>Very mild muscular dystrophy associated with the deletion of 46% dystrophin.</strong> Nature 343: 180-182, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2404210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2404210</a>] [<a href="https://doi.org/10.1038/343180a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2404210">England et al. (1990)</a>, the BMD phenotype was associated with the largest intragenic deletion, encompassing 46% of the gene, reported to that time. <a href="#35" class="mim-tip-reference" title="Passos-Bueno, M. R., Vainzof, M., Marie, S. K., Zatz, M. <strong>Half the dystrophin gene is apparently enough for a mild clinical course: confirmation of its potential use for gene therapy.</strong> Hum. Molec. Genet. 3: 919-922, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7951237/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7951237</a>] [<a href="https://doi.org/10.1093/hmg/3.6.919" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7951237">Passos-Bueno et al. (1994)</a> reported a yet larger deletion, involving exons 13 to 48 in a 37-year-old BMD patient with a mild phenotype. This deletion corresponded to 50% of the coding region. The observation had important implications for gene therapy based on minigenes, since it confirmed that deletions of up to 66% of the rod domain are compatible with a mild phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2404853+7951237+2404210+2325103" 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 hopes of shedding light on the molecular basis for the extreme variability seen among patients with BMD, <a href="#6" class="mim-tip-reference" title="Beggs, A. H., Hoffman, E. P., Snyder, J. R., Arahata, K., Specht, L., Shapiro, F., Angelini, C., Sugita, H., Kunkel, L. M. <strong>Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies.</strong> Am. J. Hum. Genet. 49: 54-67, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2063877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2063877</a>]" pmid="2063877">Beggs et al. (1991)</a> correlated DNA and protein data on 68 patients with detectable but abnormal dystrophin. They found evidence for differences in clinical presentation depending on whether in-frame deletions removed the amino terminus, the proximal portion of the rod domain, or the distal region. However, they also showed that patients with similar in-frame deletions and even similar protein levels may have significantly different clinical presentations, suggesting that epigenetic and environmental factors play a significant role in determining the severity of a patient's disease. In 86% of BMD patients with dystrophin of altered size, deletions or duplications were found and the observed sizes of dystrophin fitted well with predictions based on DNA data. Deletions within the amino-terminal domain I tended to result in low levels of dystrophin and a more severe phenotype. The phenotypes of patients with deletions or duplications in the central rod domain were more variable. This region could be divided into 3 portions based on differences in clinical presentations. Deletions around exons 45 to 53 were most common and generally caused typical BMD. Deletions or duplications in the proximal portions of this domain tended to cause severe cramps and myalgia. Loss of the middle of this region caused a very mild phenotype; the single such patient found had elevated serum creatine phosphokinase levels as his only manifestation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2063877" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#26" class="mim-tip-reference" title="Matsumura, K., Burghes, A. H. M., Mora, M., Tome, F. M. S., Morandi, L., Cornello, F., Leturcq, F., Jeanpierre, M., Kaplan, J.-C., Reinert, P., Fardeau, M., Mendell, J. R., Campbell, K. P. <strong>Immunohistochemical analysis of dystrophin-associated proteins in Becker/Duchenne muscular dystrophy with huge in-frame deletions in the NH-2-terminal and rod domains of dystrophin.</strong> J. Clin. Invest. 93: 99-105, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8282827/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8282827</a>] [<a href="https://doi.org/10.1172/JCI116989" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8282827">Matsumura et al. (1994)</a> studied patients with Becker muscular dystrophy and very large deletions that remove most of the dystrophin rod domain. These patients had slightly reduced DAGs and DAPs. In 2 patients whose deletion extended into the NH2-terminal domain, immunostaining for DAG and DAP was reduced further and the boys had a more severe phenotype. <a href="#1" class="mim-tip-reference" title="Arikawa-Hirasawa, E., Koga, R., Tsukahara, T., Nonaka, I., Mitsudome, A., Goto, K., Beggs, A. H., Arahata, K. <strong>A severe muscular dystrophy patient with an internally deleted very short (110 kD) dystrophin: presence of the binding site for dystrophin-associated glycoprotein (DAG) may not be enough for physiological function of dystrophin.</strong> Neuromusc. Disord. 5: 429-438, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7496177/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7496177</a>] [<a href="https://doi.org/10.1016/0960-8966(94)00087-p" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7496177">Arikawa-Hirasawa et al. (1995)</a> found an extremely short dystrophin resulting from a large deletion in a boy with severe muscular dystrophy. The entire actin-binding site at the N terminus was missing, although the protein was predicted to have a putative binding site for the dystrophin-associated glycoprotein and still could associate with the sarcolemmal membrane. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7496177+8282827" 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 12-year-old boy with asymptomatic dystrophinopathy who had persistently high serum creatine kinase levels and a characteristic myogenic pattern on electromyography, <a href="#43" class="mim-tip-reference" title="Yagi, M., Takeshima, Y., Wada, H., Nakamura, H., Matsuo, M. <strong>Two alternative exons can result from activation of the cryptic splice acceptor site deep within intron 2 of the dystrophin gene in a patient with as yet asymptomatic dystrophinopathy.</strong> Hum. Genet. 112: 164-170, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12522557/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12522557</a>] [<a href="https://doi.org/10.1007/s00439-002-0854-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12522557">Yagi et al. (2003)</a> observed a 132-bp insertion between exons 2 and 3 of the DMD gene in both lymphocyte and muscle mRNA. Sequencing the regions flanking the insertion revealed a point mutation in intron 2 (<a href="/entry/300377#0083">300377.0083</a>) that creates an AG dinucleotide consensus sequence for a splicing acceptor site, predicted to produce a novel exon structure that is then incorporated into dystrophin mRNA. <a href="#43" class="mim-tip-reference" title="Yagi, M., Takeshima, Y., Wada, H., Nakamura, H., Matsuo, M. <strong>Two alternative exons can result from activation of the cryptic splice acceptor site deep within intron 2 of the dystrophin gene in a patient with as yet asymptomatic dystrophinopathy.</strong> Hum. Genet. 112: 164-170, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12522557/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12522557</a>] [<a href="https://doi.org/10.1007/s00439-002-0854-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12522557">Yagi et al. (2003)</a> stated that the creation of a splice acceptor site by a single nucleotide change leading to an extra exon structure is a novel molecular mechanism in human disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12522557" 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>Approximately 80% of Becker patients have deletions in the dystrophin gene, most of which correspond to an exact multiple of codons so that some partially functional dystrophin of altered sequence is produced. <a href="#42" class="mim-tip-reference" title="Tuffery-Giraud, S., Saquet, C., Thorel, D., Disset, A., Rivier, F., Malcolm, S., Claustres, M. <strong>Mutation spectrum leading to an attenuated phenotype in dystrophinopathies.</strong> Europ. J. Hum. Genet. 13: 1254-1260, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16077730/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16077730</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201478" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16077730">Tuffery-Giraud et al. (2005)</a> reported 5 splice site mutations in the DMD gene in 5 patients with Becker muscular dystrophy. In 2 cases, the milder phenotype was due to exon skipping leading to an in-frame deletion. In 2 other cases, intronic mutations resulted in complex splicing changes, but with some residual normal transcripts. The last case resulted in a truncated transcript missing only part of the C terminus of the protein, suggesting that this region is not critical for dystrophin function. <a href="#42" class="mim-tip-reference" title="Tuffery-Giraud, S., Saquet, C., Thorel, D., Disset, A., Rivier, F., Malcolm, S., Claustres, M. <strong>Mutation spectrum leading to an attenuated phenotype in dystrophinopathies.</strong> Europ. J. Hum. Genet. 13: 1254-1260, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16077730/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16077730</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201478" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16077730">Tuffery-Giraud et al. (2005)</a> noted that the characterization of DMD mRNA changes may aid in therapeutic strategies involving the induction of exon-skipping events in order to restore the reading frame (see <a href="#18" class="mim-tip-reference" title="Goyenvalle, A., Vulin, A., Fougerousse, F., Leturcq, F., Kaplan, J.-C., Garcia, L., Danos, O. <strong>Rescue of dystrophic muscle through U7 snRNA-mediated exon skipping.</strong> Science 306: 1796-1799, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15528407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15528407</a>] [<a href="https://doi.org/10.1126/science.1104297" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15528407">Goyenvalle et al., 2004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15528407+16077730" 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="#41" class="mim-tip-reference" title="Tuffery-Giraud, S., Beroud, C., Leturcq, F., Yaou, R. B., Hamroun, D., Michel-Calemard, L., Moizard, M.-P., Bernard, R., Cossee, M., Boisseau, P., Blayau, M., Creveaux, I., and 11 others. <strong>Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase.</strong> Hum. Mutat. 30: 934-945, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19367636/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19367636</a>] [<a href="https://doi.org/10.1002/humu.20976" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19367636">Tuffery-Giraud et al. (2009)</a> described a French database of mutations in the DMD gene that includes 2,411 entries consisting of 2,084 independent mutation events identified in 2,046 male patients and 38 expressing females. This corresponds to an estimated frequency of 39 per million with a genetic diagnosis of a 'dystrophinopathy' in France. Mutations in the database include 1,404 large deletions, 215 large duplications, and 465 small rearrangements, of which 39.8% are nonsense mutations. About 24% of the mutations are de novo events. The true frequency of BMD in France was found to be almost half (43%) that of DMD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19367636" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>A review of reports of Becker muscular dystrophy was given by <a href="#46" class="mim-tip-reference" title="Zellweger, H., Hanson, J. W. <strong>Slowly progressive X-linked recessive muscular dystrophy (type IIIB). Report of cases and review of the literature.</strong> Arch. Intern. Med. 120: 525-535, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6054585/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6054585</a>]" pmid="6054585">Zellweger and Hanson (1967)</a>, who also reported a family with many affected males. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6054585" 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="#Becker1955" class="mim-tip-reference" title="Becker, P. E., Kiener, F. <strong>Eine neue X-chromosomale Muskeldystrophie.</strong> Arch. Psychiatr. Nervenkr. Z. Gesamte Neurol. Scand. 193: 427-448, 1955.">Becker and Kiener (1955)</a>; <a href="#Becker1962" class="mim-tip-reference" title="Becker, P. E. <strong>Two new families of benign sex-linked recessive muscular dystrophy.</strong> Rev. Canad. Biol. 21: 551-566, 1962.">Becker (1962)</a>; <a href="#Emery1967" class="mim-tip-reference" title="Emery, A. E. H., Clack, E. R., Simon, S., Taylor, J. L. <strong>Detection of carriers of benign X-linked muscular dystrophy.</strong> Brit. Med. J. 4: 522-523, 1967.">Emery et al. (1967)</a>; <a href="#Emery1976" class="mim-tip-reference" title="Emery, A. E. H., Skinner, R. <strong>Clinical studies in benign (Becker type) X-linked muscular dystrophy.</strong> Clin. Genet. 10: 189-201, 1976.">Emery
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and Skinner (1976)</a>; <a href="#Katiyar1977" class="mim-tip-reference" title="Katiyar, B. C., Somani, P. N., Miscra, S., Chaterji, A. M. <strong>Congestive cardiomyopathy in a family of Becker's X-linked muscular dystrophy.</strong> Postgrad. Med. J. 53: 12-15, 1977.">Katiyar et al. (1977)</a>; <a href="#Khan1982" class="mim-tip-reference" title="Khan, R. H., MacNicol, M. F. <strong>Bilateral patellar subluxation secondary to Becker muscular dystrophy: a case report.</strong> J. Bone Joint Surg. Am. 64: 777-778, 1982.">Khan and MacNicol (1982)</a>; <a href="#Kloster1983" class="mim-tip-reference" title="Kloster, R. <strong>Benign X-linked muscular dystrophy (Becker type): a kindred with very slow rate of progression.</strong> Acta Neurol. Scand. 68: 344-349, 1983.">Kloster (1983)</a>; <a href="#Moser1971" class="mim-tip-reference" title="Moser, H. <strong>Biochemische, histologische und klinische Befunde bei einer vierjaehrigen Konduktorin der gutartigen X-chromosomalen Muskeldystrophie (Typ Becker).</strong> Humangenetik 11: 328-335, 1971.">Moser (1971)</a>; <a href="#Rey1985" class="mim-tip-reference" title="Rey, R. C., Corbella, F., Bueri, J. A., Olmedo, G., Sanz, O. P., Sica, R. E. P. <strong>Marked heart involvement in Becker's type muscular dystrophy.</strong> Medicina 45: 171-174, 1985.">Rey et al. (1985)</a>; <a href="#Ringel1977" class="mim-tip-reference" title="Ringel, S. P., Carroll, J. E., Schold, S. C. <strong>The spectrum of mild X-linked recessive muscular dystrophy.</strong> Arch. Neurol. 34: 408-416, 1977.">Ringel et al.
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(1977)</a>; <a href="#Skinner1975" class="mim-tip-reference" title="Skinner, R., Emery, A. E. H., Anderson, A. J. B., Foxall, C. <strong>The detection of carriers of benign (Becker-type) X-linked muscular dystrophy.</strong> J. Med. Genet. 12: 131-134, 1975.">Skinner et al. (1975)</a>; <a href="#Yazawa1987" class="mim-tip-reference" title="Yazawa, M., Ikeda, S., Owa, M., Haruta, S., Yanagisawa, N., Tanaka, E., Watanabe, M. <strong>A family of Becker's progressive muscular dystrophy with severe cardiomyopathy.</strong> Europ. Neurol. 27: 13-19, 1987.">Yazawa et al. (1987)</a>
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Arikawa-Hirasawa, E., Koga, R., Tsukahara, T., Nonaka, I., Mitsudome, A., Goto, K., Beggs, A. H., Arahata, K.
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<strong>A severe muscular dystrophy patient with an internally deleted very short (110 kD) dystrophin: presence of the binding site for dystrophin-associated glycoprotein (DAG) may not be enough for physiological function of dystrophin.</strong>
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Neuromusc. Disord. 5: 429-438, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7496177/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7496177</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7496177" 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/10.1016/0960-8966(94)00087-p" target="_blank">Full Text</a>]
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Bardoni, A., Sironi, M., Felisari, G., Comi, G. P., Bresolin, N.
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<strong>Absence of brain Dp140 isoform and cognitive impairment in Becker muscular dystrophy.</strong>
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Lancet 353: 897-898, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10093987/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10093987</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10093987" 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/10.1016/S0140-6736(98)05801-2" target="_blank">Full Text</a>]
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Becker, P. E., Kiener, F.
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<strong>Eine neue X-chromosomale Muskeldystrophie.</strong>
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Arch. Psychiatr. Nervenkr. Z. Gesamte Neurol. Scand. 193: 427-448, 1955.
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Becker, P. E.
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<strong>Neue Ergebnisse der Genetik der Muskeldystrophien.</strong>
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Acta Genet. Statist. Med. 7: 303-310, 1957.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13469170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13469170</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13469170" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Becker, P. E.
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<strong>Two new families of benign sex-linked recessive muscular dystrophy.</strong>
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Rev. Canad. Biol. 21: 551-566, 1962.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13970129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13970129</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13970129" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Beggs, A. H., Hoffman, E. P., Snyder, J. R., Arahata, K., Specht, L., Shapiro, F., Angelini, C., Sugita, H., Kunkel, L. M.
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<strong>Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies.</strong>
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Am. J. Hum. Genet. 49: 54-67, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2063877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2063877</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2063877" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Brown, C. S., Pearson, P. L., Thomas, N. S. T., Sarfarazi, M., Harper, P. S., Shaw, D. J.
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<strong>Linkage analysis of a DNA polymorphism proximal to the Duchenne and Becker muscular dystrophy loci on the short arm of the X chromosome.</strong>
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J. Med. Genet. 22: 179-181, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2989525/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2989525</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2989525" 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/10.1136/jmg.22.3.179" target="_blank">Full Text</a>]
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Bush, A., Dubowitz, V.
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<strong>Fatal rhabdomyolysis complicating general anaesthesia in a child with Becker muscular dystrophy.</strong>
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Neuromusc. Disord. 1: 201-204, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1822795/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1822795</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1822795" 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/10.1016/0960-8966(91)90025-n" target="_blank">Full Text</a>]
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Bushby, K. M. D., Cleghorn, N. J., Curtis, A., Haggerty, I. D., Nicholson, L. V. B., Johnson, M. A., Harris, J. B., Bhattacharya, S. S.
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<strong>Identification of a mutation in the promoter region of the dystrophin gene in a patient with atypical Becker muscular dystrophy.</strong>
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Hum. Genet. 88: 195-199, 1991.
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[<a href="https://doi.org/10.1007/BF00206071" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00838159" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/pgmj.53.615.12" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00270551" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.20.4.255" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI116989" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF02073385" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/(sici)1096-8628(19981102)80:1<32::aid-ajmg6>3.0.co;2-y" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00278661" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00281062" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/mus.880060403" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00208944" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.27.4.236" target="_blank">Full Text</a>]
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Yazawa, M., Ikeda, S., Owa, M., Haruta, S., Yanagisawa, N., Tanaka, E., Watanabe, M.
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<strong>A family of Becker's progressive muscular dystrophy with severe cardiomyopathy.</strong>
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Europ. Neurol. 27: 13-19, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3622571/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3622571</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3622571" 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/10.1159/000116122" target="_blank">Full Text</a>]
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<a id="Zatz1993" class="mim-anchor"></a>
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Zatz, M., Vallada, H., Melo, M. S., Passos-Bueno, M. R., Vieira, A. H. G., Vainzof, M., Gill, M., Gentil, V.
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<strong>Cosegregation of schizophrenia with Becker muscular dystrophy: susceptibility locus for schizophrenia at Xp21 or an effect of the dystrophin gene in the brain?</strong>
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J. Med. Genet. 30: 131-134, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8445617/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8445617</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8445617" 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/10.1136/jmg.30.2.131" target="_blank">Full Text</a>]
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<a id="46" class="mim-anchor"></a>
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<a id="Zellweger1967" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zellweger, H., Hanson, J. W.
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<strong>Slowly progressive X-linked recessive muscular dystrophy (type IIIB). Report of cases and review of the literature.</strong>
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Arch. Intern. Med. 120: 525-535, 1967.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6054585/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6054585</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6054585" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Cassandra L. Kniffin - updated : 10/15/2009
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Cassandra L. Kniffin - updated : 9/8/2009<br>Cassandra L. Kniffin - updated : 2/28/2006<br>Marla J. F. O'Neill - updated : 2/23/2006
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 2/23/2002
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carol : 12/16/2019
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carol : 08/16/2019<br>carol : 01/21/2016<br>carol : 2/17/2015<br>carol : 2/16/2015<br>terry : 1/18/2012<br>terry : 1/14/2011<br>wwang : 11/6/2009<br>ckniffin : 10/15/2009<br>wwang : 9/21/2009<br>ckniffin : 9/8/2009<br>wwang : 3/2/2006<br>ckniffin : 2/28/2006<br>carol : 2/23/2006<br>terry : 12/7/2005<br>carol : 4/2/2002<br>carol : 3/13/2002<br>terry : 3/12/2002<br>carol : 3/12/2002<br>carol : 3/12/2002<br>carol : 2/23/2002
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<span class="mim-font">
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<strong>#</strong> 300376
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MUSCULAR DYSTROPHY, BECKER TYPE; BMD
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BECKER MUSCULAR DYSTROPHY<br />
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MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, BECKER TYPE
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<strong>SNOMEDCT:</strong> 387732009;
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<strong>ORPHA:</strong> 98895;
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<strong>DO:</strong> 9883;
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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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Xp21.2-p21.1
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Becker muscular dystrophy
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<span class="mim-font">
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300376
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<span class="mim-font">
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X-linked recessive
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<span class="mim-font">
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3
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<span class="mim-font">
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DMD
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<span class="mim-font">
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300377
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because Becker muscular dystrophy (BMD), like Duchenne muscular dystrophy (DMD; 310200), is caused by mutation in the gene encoding dystrophin (DMD; 300377) on chromosome Xp21.</p>
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<strong>Description</strong>
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<p>The muscular dystrophy that carries the Becker eponym is similar to Duchenne muscular dystrophy in the distribution of muscle wasting and weakness, which is mainly proximal, but the course is more benign, with age of onset around 12 years; some patients have no symptoms until much later in life. Loss of ambulation also varies from adolescence onward, with death usually in the fourth or fifth decade. In some cases, as in Duchenne muscular dystrophy, a degree of mental impairment is present (Emery, 2002). </p><p>As in DMD, about 5 to 10% of female carriers of this X-linked disorder show muscle weakness, and frequently enlarged calves--so-called manifesting heterozygotes. Such weakness is often asymmetric; it can develop in childhood or not become evident until adult life, and can be slowly progressive or remain static. Because weakness is essentially proximal, differentiation from limb-girdle muscular dystrophy is essential for genetic counseling. In both DMD and BMD, female carriers may develop dilated cardiomyopathy in the absence of apparent weakness (Grain et al., 2001). </p>
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<strong>Clinical Features</strong>
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<p>Bush and Dubowitz (1991) described fatal rhabdomyolysis complicating general anesthesia in a child with Becker muscular dystrophy. Exertional cramping and probable myoglobinuria was described by Bushby et al. (1991) in a patient with atypical Becker muscular dystrophy (see 300377.0002). Minetti et al. (1993) described 2 unrelated 9-year-old boys with exercise-induced cramps and myoglobinuria associated with elevated serum levels of creatine kinase. DNA analysis of the dystrophin gene was uninformative in 1 patient; in the other, it revealed an in-frame deletion comprising exons 3-6. Gospe et al. (1989) and Doriguzzi et al. (1993) also described exercise intolerance and recurrent myoglobinuria as the only expression of BMD. </p><p>Piccolo et al. (1994) described a 32-year-old man in whom cardiac transplantation was performed for end-stage dilated cardiomyopathy and who showed a progressive increase in serum creatine kinase level while receiving cyclosporin and simvastatine immunosuppressive treatment. Revised family history led to a suspicion of X-linked inherited myopathy which was confirmed by muscle biopsy findings. Molecular genetic studies demonstrated a deletion spanning exons 45-47 at the DMD locus. </p><p>Fujii et al. (2009) reported what they believed is the first case of true Becker muscular dystrophy in a Japanese girl born of consanguineous parents. She presented at age 14 years with a 7-year history of exercise intolerance with myalgia, swelling of the thigh muscle, and red-brown urine consistent with myoglobinuria. Laboratory studies showed increased serum creatine kinase and myoglobin in the urine, but no cardiac abnormalities. Her clinically unaffected father had mildly increased serum creatine kinase and urinary myoglobin, and her clinically unaffected mother had no symptoms. Skeletal muscle biopsy of the proband showed mild dystrophic changes and faint staining for dystrophin, consistent with Becker muscular dystrophy. Molecular genetic analysis identified a homozygous deletion of exons 45 to 55 of the DMD gene, predicting an in-frame deletion of 593 residues. Each parent was heterozygous for the deletion. There was a remote family history of cardiac disease in several males. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Other Features</strong>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Zatz et al. (1993) described an instructive pedigree in which 4 of 5 adult patients with BMD also had schizophrenia or related spectrum disorders. They considered 2 alternative hypotheses: the existence of a susceptibility locus for the mental illnesses at Xp21; or the possibility that these psychiatric disorders result from an abnormality in the expression of the dystrophin gene in the brain. </p><p>Bardoni et al. (1999) studied 24 BMD patients. Mental retardation, defined as a full IQ less than or equal to 75, was present in 6 of the 24 (25%). Mean FIQ level in the whole BMD group was 88.2. All patients with FIQ greater than 75 presented no deletions in the Dp140 regulatory sequences. A deletion including the Dp140 regulatory region was found in 5 of the 6 mentally retarded patients. The study provided evidence that the absence of Dp140 may determine the occurrence of cognitive impairment in BMD patients. Moizard et al. (1998) had previously highlighted the importance of Dp140 for mental retardation in patients with Duchenne muscular dystrophy, yet the absence of full-length dystrophin transcripts in BMD made it more difficult to understand the functional role of each single isoform. Close correlation between Dp140 and mental retardation in BMD indirectly threw light on the role of Dp140 in DMD as well. </p>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Several affected males in the large kindred reported by Becker (1957) had produced children and the resulting pedigree pattern was consistent with X-linked inheritance. Others have described such families. Allelism with the Duchenne type was considered possible and in the 1980s was proved by molecular genetic studies. (There is more than one form of X-linked, late-onset muscular dystrophy; Emery-Dreifuss muscular dystrophy (310300) is the other principal form. It is determined by a mutation on Xq28, which disrupts a gene encoding emerin (300384).) </p>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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<p>Kingston et al. (1983, 1984) found linkage of BMD with the cloned sequence L1.28 (designated DXS7 by the seventh Human Gene Mapping Workshop in Los Angeles; D = DNA, X = X chromosome, S = segment, 7 = sequence of delineation). The interval was estimated to be about 16 cM, which is also the approximate interval between DXS7 and DMD. DXS7 is located between Xp11.0 and Xp11.3. Thus, these 2 forms of X-linked muscular dystrophy appeared to be allelic, a possibility also supported by the finding of both severe and mild disease (Duchenne and Becker, if you will) in females with X-autosome translocations. Contrary to reports of others, Kingston et al. (1984) found no evidence of linkage of BMD to colorblindness; Xg also showed no linkage. </p><p>Roncuzzi et al. (1985) used 10 X-linked DNA polymorphisms (5 on Xp and 5 on Xq) to map the Becker locus in 2 pedigrees. They narrowed the position on Xp. They pointed out that by somatic cell hybridization the constitution of recombinant chromosomes and linkage phase can be determined, e.g., in cases in which the maternal grandfather is not available. They suggested that this approach may be particularly useful for rare X-linked disorders such as Lowe syndrome and Hunter syndrome, that the recombinant X chromosomes should be maintained as fibroblasts or lymphoblastoid cells in cell repositories, and that the approach is also useful in autosomal mapping. Brown et al. (1985) and Fadda et al. (1985) also assigned BMD to Xp by linkage to RFLPs. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Diagnosis</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Grimm (1984) commented on the problems of genetic counseling arising from the difficulties in distinguishing the milder Becker muscular dystrophy from autosomal recessive limb-girdle muscular dystrophy. A daughter of a man with the latter condition has virtually no risk of affected children, whereas half the sons of a daughter of a man with Becker muscular dystrophy are expected to be affected. </p>
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<h4>
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<span class="mim-font">
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<strong>Population Genetics</strong>
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<span class="mim-text-font">
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<p>In a 12-year prospective study in the Campania region of southern Italy, Nigro et al. (1983) found an incidence of DMD of 21.7 per 100,000 male live births and of BMD of 3.2 per 100,000. The latter might be underestimated because of lesser severity but surely not to an extent to explain an incidence one-seventh of that of DMD. Of the DMD patients, 38.5% were familial; of the BMD cases, 50%. </p><p>Mostacciuolo et al. (1987) presented population data on the incidence and prevalence of the Becker and Duchenne forms of muscular dystrophy and estimated mutation rates for each. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Monaco et al. (1988) provided an explanation for the phenotypic differences between DMD and BMD: although no fundamental difference in the size of deletions at the locus appeared to be present in the 2 forms of disease, the deletions in DMD caused frameshifts while those in BMD did not. This finding is consistent with the fact that most patients with DMD are found to have no dystrophin protein in muscle, whereas patients with BMD are found to have an abnormally short variety (or, in 1 case, an abnormally long variety) of dystrophin. Presumably the dystrophin protein that is formed in BMD is partially functional. </p><p>England et al. (1990) demonstrated that a family segregating for a very mild BMD (1 affected member was still ambulant at age 61) had a mutation that removed the central part of the dystrophin gene encompassing 5,106 bp of coding sequence, almost half the coding information. Immunologic analysis of muscle from one of the patients showed that the mutation resulted in the production of a truncated polypeptide localized correctly in the muscle cell. Immunostaining with antibody against the central part of the dystrophin molecule resulted in no staining of muscle membranes; immunostaining with antibody against the N- and C-terminal portions did yield muscle membrane staining. They concluded that the findings are meaningful in the context of gene therapy which would be facilitated by the replacement of the very large DMD gene with a more manipulatable mini-gene construct. </p><p>Norman et al. (1990) found deletions of the dystrophin gene in 41 (71%) of 58 separate BMD families. In 34 (83%) of these families, the deletion started in the same intron near the center of the gene. Nordenskjold et al. (1990) described 2 brothers with identical inherited deletions of a single exon in the middle of the DMD gene. One brother had Becker muscular dystrophy, diagnosed at age 11, whereas the older brother was normal at age 18. It appears that some additional factor precipitated the expression of the disease in the younger brother. In the family reported by England et al. (1990), the BMD phenotype was associated with the largest intragenic deletion, encompassing 46% of the gene, reported to that time. Passos-Bueno et al. (1994) reported a yet larger deletion, involving exons 13 to 48 in a 37-year-old BMD patient with a mild phenotype. This deletion corresponded to 50% of the coding region. The observation had important implications for gene therapy based on minigenes, since it confirmed that deletions of up to 66% of the rod domain are compatible with a mild phenotype. </p><p>In hopes of shedding light on the molecular basis for the extreme variability seen among patients with BMD, Beggs et al. (1991) correlated DNA and protein data on 68 patients with detectable but abnormal dystrophin. They found evidence for differences in clinical presentation depending on whether in-frame deletions removed the amino terminus, the proximal portion of the rod domain, or the distal region. However, they also showed that patients with similar in-frame deletions and even similar protein levels may have significantly different clinical presentations, suggesting that epigenetic and environmental factors play a significant role in determining the severity of a patient's disease. In 86% of BMD patients with dystrophin of altered size, deletions or duplications were found and the observed sizes of dystrophin fitted well with predictions based on DNA data. Deletions within the amino-terminal domain I tended to result in low levels of dystrophin and a more severe phenotype. The phenotypes of patients with deletions or duplications in the central rod domain were more variable. This region could be divided into 3 portions based on differences in clinical presentations. Deletions around exons 45 to 53 were most common and generally caused typical BMD. Deletions or duplications in the proximal portions of this domain tended to cause severe cramps and myalgia. Loss of the middle of this region caused a very mild phenotype; the single such patient found had elevated serum creatine phosphokinase levels as his only manifestation. </p><p>Matsumura et al. (1994) studied patients with Becker muscular dystrophy and very large deletions that remove most of the dystrophin rod domain. These patients had slightly reduced DAGs and DAPs. In 2 patients whose deletion extended into the NH2-terminal domain, immunostaining for DAG and DAP was reduced further and the boys had a more severe phenotype. Arikawa-Hirasawa et al. (1995) found an extremely short dystrophin resulting from a large deletion in a boy with severe muscular dystrophy. The entire actin-binding site at the N terminus was missing, although the protein was predicted to have a putative binding site for the dystrophin-associated glycoprotein and still could associate with the sarcolemmal membrane. </p><p>In a 12-year-old boy with asymptomatic dystrophinopathy who had persistently high serum creatine kinase levels and a characteristic myogenic pattern on electromyography, Yagi et al. (2003) observed a 132-bp insertion between exons 2 and 3 of the DMD gene in both lymphocyte and muscle mRNA. Sequencing the regions flanking the insertion revealed a point mutation in intron 2 (300377.0083) that creates an AG dinucleotide consensus sequence for a splicing acceptor site, predicted to produce a novel exon structure that is then incorporated into dystrophin mRNA. Yagi et al. (2003) stated that the creation of a splice acceptor site by a single nucleotide change leading to an extra exon structure is a novel molecular mechanism in human disease. </p><p>Approximately 80% of Becker patients have deletions in the dystrophin gene, most of which correspond to an exact multiple of codons so that some partially functional dystrophin of altered sequence is produced. Tuffery-Giraud et al. (2005) reported 5 splice site mutations in the DMD gene in 5 patients with Becker muscular dystrophy. In 2 cases, the milder phenotype was due to exon skipping leading to an in-frame deletion. In 2 other cases, intronic mutations resulted in complex splicing changes, but with some residual normal transcripts. The last case resulted in a truncated transcript missing only part of the C terminus of the protein, suggesting that this region is not critical for dystrophin function. Tuffery-Giraud et al. (2005) noted that the characterization of DMD mRNA changes may aid in therapeutic strategies involving the induction of exon-skipping events in order to restore the reading frame (see Goyenvalle et al., 2004). </p><p>Tuffery-Giraud et al. (2009) described a French database of mutations in the DMD gene that includes 2,411 entries consisting of 2,084 independent mutation events identified in 2,046 male patients and 38 expressing females. This corresponds to an estimated frequency of 39 per million with a genetic diagnosis of a 'dystrophinopathy' in France. Mutations in the database include 1,404 large deletions, 215 large duplications, and 465 small rearrangements, of which 39.8% are nonsense mutations. About 24% of the mutations are de novo events. The true frequency of BMD in France was found to be almost half (43%) that of DMD. </p>
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</span>
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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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<strong>History</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>A review of reports of Becker muscular dystrophy was given by Zellweger and Hanson (1967), who also reported a family with many affected males. </p>
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</span>
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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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<h4>
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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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Becker and Kiener (1955); Becker (1962); Emery et al. (1967); Emery
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and Skinner (1976); Katiyar et al. (1977); Khan and MacNicol (1982);
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Kloster (1983); Moser (1971); Rey et al. (1985); Ringel et al.
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(1977); Skinner et al. (1975); Yazawa et al. (1987)
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</span>
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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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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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<strong>A severe muscular dystrophy patient with an internally deleted very short (110 kD) dystrophin: presence of the binding site for dystrophin-associated glycoprotein (DAG) may not be enough for physiological function of dystrophin.</strong>
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<p class="mim-text-font">
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<p class="mim-text-font">
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Kingston, H. M., Sarfarazi, M., Thomas, N. S. T., Harper, P. S.
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<strong>Localisation of the Becker muscular dystrophy gene on the short arm of the X chromosome by linkage to cloned DNA sequences.</strong>
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<p class="mim-text-font">
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Kingston, H. M., Thomas, N. S. T., Pearson, P. L., Sarfarazi, M., Harper, P. S.
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<strong>Genetic linkage between Becker muscular dystrophy and a polymorphic DNA sequence on the short arm of the X chromosome.</strong>
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[PubMed: 6620324]
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[Full Text: https://doi.org/10.1136/jmg.20.4.255]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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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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