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Entry
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- *311870 - PHOSPHORYLASE KINASE, MUSCLE, ALPHA-1 SUBUNIT; PHKA1
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- OMIM
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<p>
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<span class="h4">*311870</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/311870">Table View</a>
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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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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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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>
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<div id="mimExternalLinksFold" class="collapse in">
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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="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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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="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000067177;t=ENST00000373542" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=5255" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=311870" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</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="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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<div id="mimDnaLinksFold" 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.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000067177;t=ENST00000373542" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001122670,NM_001172436,NM_001431068,NM_002637,XM_006724661,XM_047442160,XM_047442161,XM_047442162" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_002637" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=311870" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</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="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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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="mimProteinLinksFold" 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://hprd.org/summary?hprd_id=02415&isoform_id=02415_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/PHKA1" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/protein/791043,85397816,110282976,119592231,119592232,169881273,169881275,219520008,219520671,289176994,578838397,2217392580,2217392582,2217392645,2462629732,2462629734,2462629736,2462629738,2746976364" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
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<div><a href="https://www.uniprot.org/uniprotkb/P46020" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</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="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" 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="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</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="mimGeneInfoLinksFold" 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="http://biogps.org/#goto=genereport&id=5255" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000067177;t=ENST00000373542" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=PHKA1" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
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<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=PHKA1" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+5255" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<dd><a href="http://v1.marrvel.org/search/gene/PHKA1" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:5255" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/5255" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chrX&hgg_gene=ENST00000373542.9&hgg_start=72578814&hgg_end=72714306&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</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="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="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="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 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://medlineplus.gov/genetics/gene/phka1" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=311870[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 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="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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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="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=311870[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/PHKA1/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000067177" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=PHKA1" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=PHKA1" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=PHKA1" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="http://www.LOVD.nl/PHKA1" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=PHKA1&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
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<div><a href="https://www.pharmgkb.org/gene/PA33266" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</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="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/gene/HGNC:8925" 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="https://flybase.org/reports/FBgn0030087.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:97576" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
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<div><a href="http://v1.marrvel.org/search/gene/PHKA1#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:97576" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
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<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/5255/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=5255" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00015754;class=Gene" 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'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-031118-56" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</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="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" 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="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</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="mimCellularPathwaysLinksFold" 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.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5255" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=PHKA1&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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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> 819953000<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="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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311870
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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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PHOSPHORYLASE KINASE, MUSCLE, ALPHA-1 SUBUNIT; PHKA1
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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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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=PHKA1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">PHKA1</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/X/422?start=-3&limit=10&highlight=422">Xq13.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chrX:72578814-72714306&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">X:72,578,814-72,714,306</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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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="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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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>
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<tr class="active">
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<th>
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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>
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Phenotype <br /> mapping key
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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 rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/X/422?start=-3&limit=10&highlight=422">
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Xq13.1
|
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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">
|
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Muscle glycogenosis
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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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<a href="/entry/300559"> 300559 </a>
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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="X-linked recessive">XLR</abbr>
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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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</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">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/311870" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/311870" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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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="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
|
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</span>
|
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</span>
|
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</h4>
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<div>
|
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
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<strong>Description</strong>
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<p>The PHKA1 gene encodes the alpha subunit of muscle phosphorylase kinase (<a href="https://enzyme.expasy.org/EC/2.7.1.38" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 2.7.1.38</a>), a key regulatory enzyme of glycogen metabolism. Phosphorylase kinase consists of 4 copies of an alpha-beta-gamma-delta tetramer. The alpha, beta (PHKB; <a href="/entry/172490">172490</a>), and gamma (PHKG1; <a href="/entry/172470">172470</a> and PHKG2; <a href="/entry/172471">172471</a>) subunits have several isoforms; the delta subunit is calmodulin (CALM1; <a href="/entry/114180">114180</a>). PHKA2 (<a href="/entry/306000">306000</a>) encodes the alpha subunit of liver-specific phosphorylase kinase and is located on the X chromosome.</p>
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<p><a href="#18" class="mim-tip-reference" title="Zander, N. F., Meyer, H. E., Hoffmann-Posorske, E., Crabb, J. W., Heilmeyer, L. M. G., Jr., Kilimann, M. W. <strong>cDNA cloning and complete primary structure of skeletal muscle phosphorylase kinase (alpha subunit).</strong> Proc. Nat. Acad. Sci. 85: 2929-2933, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3362857/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3362857</a>] [<a href="https://doi.org/10.1073/pnas.85.9.2929" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3362857">Zander et al. (1988)</a> isolated and sequenced a cDNA clone for rabbit Phka1 from fast-twitch skeletal muscle. The deduced 1,237-residue protein had a molecular mass of 138 Da. Seven putative serine phosphorylation sites could be identified. Northern blot analysis identified 2 mRNA transcripts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3362857" 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="Wullrich, A., Hamacher, C., Schneider, A., Kilimann, M. W. <strong>The multiphosphorylation domain of the phosphorylase kinase alpha-M and alpha-L subunits is a hotspot of differential mRNA processing and of molecular evolution.</strong> J. Biol. Chem. 268: 23208-23214, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8226841/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8226841</a>]" pmid="8226841">Wullrich et al. (1993)</a> isolated a cDNA corresponding to muscle phosphorylase kinase from a human skeletal muscle cDNA library. The deduced amino acid sequence shows 96% identity to the rabbit protein, but lacks a major part of its multiphosphorylation domain, including the main phosphorylation domain for cAMP-dependent protein kinase A (PKA; <a href="/entry/601639">601639</a>). Analysis of this region by RT-PCR showed that it is subject to alternative mRNA splicing. The expression of the differentially spliced PHKA1 subtypes differed markedly between corresponding human and rabbit tissues. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8226841" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="Buckle, V. J., Edwards, J. H., Evans, E. P., Jonasson, J. A., Lyon, M. F., Peters, J., Searle, A. G. <strong>Comparative maps of human and mouse X chromosomes. (Abstract)</strong> Cytogenet. Cell Genet. 40: 594-595, 1985."None>Buckle et al. (1985)</a> studied the regional mapping of genes on the mouse X chromosome, including Phka, the mouse homolog for the human muscle phosphorylase kinase gene, and predicted that the human gene may be situated near the centromere. <a href="#12" class="mim-tip-reference" title="Ryder-Cook, A. S., Derry, J. M. J., Barnard, P. J. <strong>Localization of the phosphorylase kinase alpha subunit gene on the mouse X chromosome. (Abstract)</strong> Cytogenet. Cell Genet. 51: 1071-1072, 1989."None>Ryder-Cook et al. (1989)</a> and <a href="#1" class="mim-tip-reference" title="Barnard, P. J., Derry, J. M. J., Ryder-Cook, A. S., Zander, N. F., Kilimann, M. W. <strong>Mapping of the phosphorylase kinase alpha subunit gene on the mouse X chromosome.</strong> Cytogenet. Cell Genet. 53: 91-94, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1973380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1973380</a>] [<a href="https://doi.org/10.1159/000132902" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1973380">Barnard et al. (1990)</a> mapped the Phka locus in the mouse distal to Zfx and proximal to Pgk1 by interspecific linkage analysis. Phka appeared to be very close to the Pgk1 locus. They predicted that the corresponding gene in man should be centromeric and close to PGK (<a href="/entry/311800">311800</a>) on Xq13. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1973380" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By study of somatic cell hybrids and by in situ chromosomal hybridization using rabbit muscle cDNAs, <a href="#7" class="mim-tip-reference" title="Francke, U., Darras, B. T., Zander, N. F., Kilimann, M. W. <strong>Assignment of human genes for phosphorylase kinase subunits alpha (PHKA) to Xq12-q13 and beta (PHKB) to 16q12-q13.</strong> Am. J. Hum. Genet. 45: 276-282, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2757032/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2757032</a>]" pmid="2757032">Francke et al. (1989)</a> mapped 2 of the 4 subunits that comprise muscle phosphorylase kinase: the alpha subunit to Xq12-q13 and the beta subunit to 16q12-q13. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2757032" 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="#8" class="mim-tip-reference" title="Lafreniere, R. G., Brown, C. J., Rider, S., Chelly, J., Taillon-Miller, P., Chinault, A. C., Monaco, A. P., Willard, H. F. <strong>2.6 Mb YAC contig of the human X inactivation center region in Xq13: physical linkage of the RPS4X, PHKA1, XIST and DXS128E genes.</strong> Hum. Molec. Genet. 2: 1105-1115, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8401491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8401491</a>] [<a href="https://doi.org/10.1093/hmg/2.8.1105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8401491">Lafreniere et al. (1993)</a> showed that the PHKA1 gene is in the same 2.6-Mb segment as RPS4X (<a href="/entry/312760">312760</a>) and XIST (<a href="/entry/314670">314670</a>) in Xq13. Furthermore, they showed that the transcriptional orientation of the gene is cen--3-prime--PHKA1--5-prime--qter. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8401491" 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 patient with, glycogen storage disease type IXd (GSD9D; <a href="/entry/300559">300559</a>), also known as X-linked muscle phosphorylase kinase deficiency (<a href="#5" class="mim-tip-reference" title="Clemens, P. R., Yamamoto, M., Engel, A. G. <strong>Adult phosphorylase b kinase deficiency.</strong> Ann. Neurol. 28: 529-538, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2252364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2252364</a>] [<a href="https://doi.org/10.1002/ana.410280410" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2252364">Clemens et al., 1990</a>), <a href="#14" class="mim-tip-reference" title="Wehner, M., Clemens, P. R., Engel, A. G., Kilimann, M. W. <strong>Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit.</strong> Hum. Molec. Genet. 3: 1983-1987, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7874115/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7874115</a>] [<a href="https://doi.org/10.1093/hmg/3.11.1983" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7874115">Wehner et al. (1994)</a> identified a nonsense mutation in the PHKA1 gene (<a href="#0001">311870.0001</a>). The findings confirmed that the condition in this patient was a human homolog of the X-linked muscle Phk deficiency of the I-strain mouse (<a href="#13" class="mim-tip-reference" title="Schneider, A., Davidson, J. J., Wullrich, A., Kilimann, M. W. <strong>Phosphorylase kinase deficiency in I-strain mice is associated with a frameshift mutation in the alpha-subunit muscle isoform.</strong> Nature Genet. 5: 381-385, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8298647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8298647</a>] [<a href="https://doi.org/10.1038/ng1293-381" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8298647">Schneider et al., 1993</a>). In a second patient with muscle phosphorylase kinase deficiency reported by <a href="#5" class="mim-tip-reference" title="Clemens, P. R., Yamamoto, M., Engel, A. G. <strong>Adult phosphorylase b kinase deficiency.</strong> Ann. Neurol. 28: 529-538, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2252364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2252364</a>] [<a href="https://doi.org/10.1002/ana.410280410" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2252364">Clemens et al. (1990)</a>, <a href="#4" class="mim-tip-reference" title="Burwinkel, B., Hu, B., Schroers, A., Clemens, P. R., Moses, S. W., Shin, Y. S., Pongratz, D., Vorgerd, M., Kilimann, M. W. <strong>Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases.</strong> Europ. J. Hum. Genet. 11: 516-526, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12825073/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12825073</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200996" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12825073">Burwinkel et al. (2003)</a> identified a missense mutation in the PHKA1 gene (<a href="#0003">311870.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12825073+8298647+2252364+7874115" 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="Bruno, C., Manfredi, G., Andreu, A. L., Shanske, S., Krishna, S., Ilse, W. K., DiMauro, S. <strong>A splice junction mutation in the alpha-M gene of phosphorylase kinase in a patient with myopathy.</strong> Biochem. Biophys. Res. Commun. 249: 648-651, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9731190/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9731190</a>] [<a href="https://doi.org/10.1006/bbrc.1998.9211" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9731190">Bruno et al. (1998)</a> reported a splice-junction mutation in the PHKA1 gene (<a href="#0002">311870.0002</a>) in a 28-year old Caucasian male with exercise intolerance, myoglobinuria, and muscle PHK deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9731190" 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="#9" class="mim-tip-reference" title="Lyon, J. B., Jr., Porter, J., Robertson, M. <strong>Phosphorylase B kinase inheritance in mice.</strong> Science 155: 1550-1551, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6020474/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6020474</a>] [<a href="https://doi.org/10.1126/science.155.3769.1550" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6020474">Lyon et al. (1967)</a> found an X-linked codominant electrophoretic polymorphism of muscle phosphorylase b kinase in the mouse. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6020474" 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="#6" class="mim-tip-reference" title="Davidson, J. J., Ozcelik, T., Hamacher, C., Willems, P. J., Francke, U., Kilimann, M. W. <strong>cDNA cloning of a liver isoform of the phosphorylase kinase alpha subunit and mapping of the gene to Xp22.2-p22.1, the region of human X-linked liver glycogenosis.</strong> Proc. Nat. Acad. Sci. 89: 2096-2100, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1372435/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1372435</a>] [<a href="https://doi.org/10.1073/pnas.89.6.2096" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1372435">Davidson et al. (1992)</a> presented evidence that the murine equivalent of the PHKA1 gene is mutant in the I-strain of mice with myopathy. <a href="#13" class="mim-tip-reference" title="Schneider, A., Davidson, J. J., Wullrich, A., Kilimann, M. W. <strong>Phosphorylase kinase deficiency in I-strain mice is associated with a frameshift mutation in the alpha-subunit muscle isoform.</strong> Nature Genet. 5: 381-385, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8298647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8298647</a>] [<a href="https://doi.org/10.1038/ng1293-381" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8298647">Schneider et al. (1993)</a> described the first specific mutation responsible for any form of PHK deficiency: a single-nucleotide insertion in the coding sequence of the alpha-1 subunit muscle isozyme in the I-strain mouse. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1372435+8298647" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137852546 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852546;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs137852546" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs137852546" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a patient with glycogen storage disease IXd (GSD9D; <a href="/entry/300559">300559</a>) reported by <a href="#5" class="mim-tip-reference" title="Clemens, P. R., Yamamoto, M., Engel, A. G. <strong>Adult phosphorylase b kinase deficiency.</strong> Ann. Neurol. 28: 529-538, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2252364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2252364</a>] [<a href="https://doi.org/10.1002/ana.410280410" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2252364">Clemens et al. (1990)</a>, <a href="#14" class="mim-tip-reference" title="Wehner, M., Clemens, P. R., Engel, A. G., Kilimann, M. W. <strong>Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit.</strong> Hum. Molec. Genet. 3: 1983-1987, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7874115/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7874115</a>] [<a href="https://doi.org/10.1093/hmg/3.11.1983" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7874115">Wehner et al. (1994)</a> identified a nonsense mutation, glu1112-to-ter (E1112X), in the PHKA1 gene. The PHK activity was only 0.3% of normal in muscle, but showed normal levels in red blood cells and liver. Histologically, mild glycogenosis with subsarcolemmal accumulations of glycogen and focal muscle fiber necrosis were observed. The patient's mother, who died at the age of about 26 years, and his daughter, aged 33 at the time of the report, were reportedly asymptomatic. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2252364+7874115" 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="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000010602" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010602" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010602</a>
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<p>In a 28-year-old man with muscle phosphorylase kinase deficiency (GSD9D; <a href="/entry/300559">300559</a>), <a href="#2" class="mim-tip-reference" title="Bruno, C., Manfredi, G., Andreu, A. L., Shanske, S., Krishna, S., Ilse, W. K., DiMauro, S. <strong>A splice junction mutation in the alpha-M gene of phosphorylase kinase in a patient with myopathy.</strong> Biochem. Biophys. Res. Commun. 249: 648-651, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9731190/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9731190</a>] [<a href="https://doi.org/10.1006/bbrc.1998.9211" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9731190">Bruno et al. (1998)</a> identified a G-to-C transversion at the 5-prime end of an intron (referred to as 'intron L' by them) in the PHKA1 gene. The mutation destroys the highly conserved GT sequence at the 5-prime splice junction of the intron, which resulted in skipping of the preceding 201-bp exon. The patient, reported as patient 1 of <a href="#15" class="mim-tip-reference" title="Wilkinson, D. A., Tonin, P., Shanske, S., Lombes, A., Carlson, G. M., DiMauro, S. <strong>Clinical and biochemical features of 10 adult patients with muscle phosphorylase kinase deficiency.</strong> Neurology 44: 461-466, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8145916/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8145916</a>] [<a href="https://doi.org/10.1212/wnl.44.3_part_1.461" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8145916">Wilkinson et al. (1994)</a>, had been diagnosed with PHK deficiency at age 15. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9731190+8145916" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137852547 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852547;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs137852547" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs137852547" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000010603" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010603" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010603</a>
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<p>In a patient with muscle phosphorylase kinase deficiency (GSD9D; <a href="/entry/300559">300559</a>) reported by <a href="#5" class="mim-tip-reference" title="Clemens, P. R., Yamamoto, M., Engel, A. G. <strong>Adult phosphorylase b kinase deficiency.</strong> Ann. Neurol. 28: 529-538, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2252364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2252364</a>] [<a href="https://doi.org/10.1002/ana.410280410" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2252364">Clemens et al. (1990)</a>, <a href="#4" class="mim-tip-reference" title="Burwinkel, B., Hu, B., Schroers, A., Clemens, P. R., Moses, S. W., Shin, Y. S., Pongratz, D., Vorgerd, M., Kilimann, M. W. <strong>Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases.</strong> Europ. J. Hum. Genet. 11: 516-526, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12825073/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12825073</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200996" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12825073">Burwinkel et al. (2003)</a> identified an 896A-T transversion in the PHKA1 gene, resulting in an asp299-to-val (D299V) substitution in a highly conserved region of the protein. Muscle biopsy showed increased subsarcolemmal glycogen accumulation. Total phosphorylase was normal in muscle, and PhK activity was markedly reduced in muscle but normal in red blood cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12825073+2252364" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1603266754 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1603266754;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1603266754" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1603266754" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000010604" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010604" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010604</a>
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<p>In a patient with muscle phosphorylase kinase deficiency (GSD9D; <a href="/entry/300559">300559</a>) who had onset of symptoms at age 43 years, <a href="#17" class="mim-tip-reference" title="Wuyts, W., Reyniers, E., Ceuterick, C., Storm, K., de Barsy, T., Martin, J.-J. <strong>Myopathy and phosphorylase kinase deficiency caused by a mutation in the PHKA1 gene.</strong> Am. J. Med. Genet. 133A: 82-84, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15637709/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15637709</a>] [<a href="https://doi.org/10.1002/ajmg.a.30517" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15637709">Wuyts et al. (2005)</a> identified a 1-bp deletion, 695delC, in exon 7 of the PHKA1 gene, resulting in a frameshift and premature termination of the protein at amino acid position 242. The mutated protein was predicted to lack the multiphosphorylation domain located in the last 300 residues of the protein, thus rendering it nonfunctional. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15637709" 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="#11" class="mim-tip-reference" title="Preisler, N., Orngreen, M. C., Echaniz-Laguna, A., Laforet, P., Lonsdorfer-Wolf, E., Doutreleau, S., Geny, B., Akman, H.O., DiMauro, S., Vissing, J. <strong>Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease?</strong> Neurology 78: 265-268, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22238410/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22238410</a>] [<a href="https://doi.org/10.1212/WNL.0b013e31824365f9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22238410">Preisler et al. (2012)</a> identified a 695delC mutation in a 69-year-old man with GSD IXd who had persistently raised levels of creatine kinase after treatment with statin therapy. He had worked in the military, and neurologic and EMG examination at age 64 were normal. Muscle biopsy showed increased glycogen and PHK activity was less than 11% of normal. Ischemic forearm exercise test was essentially similar to control, except for an increase in plasma ammonia. In contrast, aerobic exercise resulted in a blunted lactate response compared to controls, suggesting a mild impairment in muscle glycogenolysis. <a href="#11" class="mim-tip-reference" title="Preisler, N., Orngreen, M. C., Echaniz-Laguna, A., Laforet, P., Lonsdorfer-Wolf, E., Doutreleau, S., Geny, B., Akman, H.O., DiMauro, S., Vissing, J. <strong>Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease?</strong> Neurology 78: 265-268, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22238410/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22238410</a>] [<a href="https://doi.org/10.1212/WNL.0b013e31824365f9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22238410">Preisler et al. (2012)</a> suggested that high exercise intensity may activate myophosphorylase (PYGM; <a href="/entry/608455">608455</a>) in patients with PHK deficiency, thus preserving some glycogenolysis in these patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22238410" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137852548 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852548;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs137852548" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs137852548" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a 50-year-old man with muscle phosphorylase kinase deficiency (GSD9D; <a href="/entry/300559">300559</a>), <a href="#10" class="mim-tip-reference" title="Orngreen, M. C., Schelhaas, H. J., Jeppesen, T. D., Akman, H. O., Wevers, R. A., Andersen, S. T., ter Laak, H. J., van Diggelen, O. P., DiMauro, S., Vissing, J. <strong>Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency?</strong> Neurology 70: 1876-1882, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18401027/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18401027</a>] [<a href="https://doi.org/10.1212/01.wnl.0000289190.66955.67" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18401027">Orngreen et al. (2008)</a> identified an 831G-A transition in exon 7 of the PHKA1 gene, resulting in a gly223-to-arg (G223R) substitution. The patient reported progressive exercise intolerance, muscle stiffness on exercise, and nighttime muscle cramps since childhood. Serum creatine kinase levels were mildly elevated on several occasions, and there was low muscle PHK activity and high muscle glycogen content. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18401027" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<li>
|
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<a id="1" class="mim-anchor"></a>
|
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<a id="Barnard1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Barnard, P. J., Derry, J. M. J., Ryder-Cook, A. S., Zander, N. F., Kilimann, M. W.
|
|
<strong>Mapping of the phosphorylase kinase alpha subunit gene on the mouse X chromosome.</strong>
|
|
Cytogenet. Cell Genet. 53: 91-94, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1973380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1973380</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1973380" 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/10.1159/000132902" target="_blank">Full Text</a>]
|
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|
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</p>
|
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|
|
</li>
|
|
|
|
<li>
|
|
<a id="2" class="mim-anchor"></a>
|
|
<a id="Bruno1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bruno, C., Manfredi, G., Andreu, A. L., Shanske, S., Krishna, S., Ilse, W. K., DiMauro, S.
|
|
<strong>A splice junction mutation in the alpha-M gene of phosphorylase kinase in a patient with myopathy.</strong>
|
|
Biochem. Biophys. Res. Commun. 249: 648-651, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9731190/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9731190</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9731190" 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/10.1006/bbrc.1998.9211" target="_blank">Full Text</a>]
|
|
|
|
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|
</p>
|
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</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="3" class="mim-anchor"></a>
|
|
<a id="Buckle1985" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Buckle, V. J., Edwards, J. H., Evans, E. P., Jonasson, J. A., Lyon, M. F., Peters, J., Searle, A. G.
|
|
<strong>Comparative maps of human and mouse X chromosomes. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 40: 594-595, 1985.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="4" class="mim-anchor"></a>
|
|
<a id="Burwinkel2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Burwinkel, B., Hu, B., Schroers, A., Clemens, P. R., Moses, S. W., Shin, Y. S., Pongratz, D., Vorgerd, M., Kilimann, M. W.
|
|
<strong>Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases.</strong>
|
|
Europ. J. Hum. Genet. 11: 516-526, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12825073/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12825073</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12825073" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/sj.ejhg.5200996" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="5" class="mim-anchor"></a>
|
|
<a id="Clemens1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Clemens, P. R., Yamamoto, M., Engel, A. G.
|
|
<strong>Adult phosphorylase b kinase deficiency.</strong>
|
|
Ann. Neurol. 28: 529-538, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2252364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2252364</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2252364" 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/10.1002/ana.410280410" target="_blank">Full Text</a>]
|
|
|
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</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="6" class="mim-anchor"></a>
|
|
<a id="Davidson1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Davidson, J. J., Ozcelik, T., Hamacher, C., Willems, P. J., Francke, U., Kilimann, M. W.
|
|
<strong>cDNA cloning of a liver isoform of the phosphorylase kinase alpha subunit and mapping of the gene to Xp22.2-p22.1, the region of human X-linked liver glycogenosis.</strong>
|
|
Proc. Nat. Acad. Sci. 89: 2096-2100, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1372435/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1372435</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1372435" 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/10.1073/pnas.89.6.2096" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="7" class="mim-anchor"></a>
|
|
<a id="Francke1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Francke, U., Darras, B. T., Zander, N. F., Kilimann, M. W.
|
|
<strong>Assignment of human genes for phosphorylase kinase subunits alpha (PHKA) to Xq12-q13 and beta (PHKB) to 16q12-q13.</strong>
|
|
Am. J. Hum. Genet. 45: 276-282, 1989.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2757032/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2757032</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2757032" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
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|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="8" class="mim-anchor"></a>
|
|
<a id="Lafreniere1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lafreniere, R. G., Brown, C. J., Rider, S., Chelly, J., Taillon-Miller, P., Chinault, A. C., Monaco, A. P., Willard, H. F.
|
|
<strong>2.6 Mb YAC contig of the human X inactivation center region in Xq13: physical linkage of the RPS4X, PHKA1, XIST and DXS128E genes.</strong>
|
|
Hum. Molec. Genet. 2: 1105-1115, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8401491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8401491</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8401491" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
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[<a href="https://doi.org/10.1093/hmg/2.8.1105" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="9" class="mim-anchor"></a>
|
|
<a id="Lyon1967" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lyon, J. B., Jr., Porter, J., Robertson, M.
|
|
<strong>Phosphorylase B kinase inheritance in mice.</strong>
|
|
Science 155: 1550-1551, 1967.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6020474/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6020474</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6020474" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1126/science.155.3769.1550" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
|
<a id="Orngreen2008" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Orngreen, M. C., Schelhaas, H. J., Jeppesen, T. D., Akman, H. O., Wevers, R. A., Andersen, S. T., ter Laak, H. J., van Diggelen, O. P., DiMauro, S., Vissing, J.
|
|
<strong>Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency?</strong>
|
|
Neurology 70: 1876-1882, 2008.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18401027/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18401027</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18401027" 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/10.1212/01.wnl.0000289190.66955.67" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="Preisler2012" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Preisler, N., Orngreen, M. C., Echaniz-Laguna, A., Laforet, P., Lonsdorfer-Wolf, E., Doutreleau, S., Geny, B., Akman, H.O., DiMauro, S., Vissing, J.
|
|
<strong>Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease?</strong>
|
|
Neurology 78: 265-268, 2012.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22238410/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22238410</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22238410" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/WNL.0b013e31824365f9" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="12" class="mim-anchor"></a>
|
|
<a id="Ryder-Cook1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ryder-Cook, A. S., Derry, J. M. J., Barnard, P. J.
|
|
<strong>Localization of the phosphorylase kinase alpha subunit gene on the mouse X chromosome. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 51: 1071-1072, 1989.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="13" class="mim-anchor"></a>
|
|
<a id="Schneider1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Schneider, A., Davidson, J. J., Wullrich, A., Kilimann, M. W.
|
|
<strong>Phosphorylase kinase deficiency in I-strain mice is associated with a frameshift mutation in the alpha-subunit muscle isoform.</strong>
|
|
Nature Genet. 5: 381-385, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8298647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8298647</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8298647" 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/10.1038/ng1293-381" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
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|
|
</li>
|
|
|
|
<li>
|
|
<a id="14" class="mim-anchor"></a>
|
|
<a id="Wehner1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Wehner, M., Clemens, P. R., Engel, A. G., Kilimann, M. W.
|
|
<strong>Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit.</strong>
|
|
Hum. Molec. Genet. 3: 1983-1987, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7874115/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7874115</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7874115" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
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[<a href="https://doi.org/10.1093/hmg/3.11.1983" target="_blank">Full Text</a>]
|
|
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|
|
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|
|
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|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Wilkinson1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Wilkinson, D. A., Tonin, P., Shanske, S., Lombes, A., Carlson, G. M., DiMauro, S.
|
|
<strong>Clinical and biochemical features of 10 adult patients with muscle phosphorylase kinase deficiency.</strong>
|
|
Neurology 44: 461-466, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8145916/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8145916</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8145916" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/wnl.44.3_part_1.461" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="16" class="mim-anchor"></a>
|
|
<a id="Wullrich1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Wullrich, A., Hamacher, C., Schneider, A., Kilimann, M. W.
|
|
<strong>The multiphosphorylation domain of the phosphorylase kinase alpha-M and alpha-L subunits is a hotspot of differential mRNA processing and of molecular evolution.</strong>
|
|
J. Biol. Chem. 268: 23208-23214, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8226841/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8226841</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8226841" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="17" class="mim-anchor"></a>
|
|
<a id="Wuyts2005" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Wuyts, W., Reyniers, E., Ceuterick, C., Storm, K., de Barsy, T., Martin, J.-J.
|
|
<strong>Myopathy and phosphorylase kinase deficiency caused by a mutation in the PHKA1 gene.</strong>
|
|
Am. J. Med. Genet. 133A: 82-84, 2005.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15637709/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15637709</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15637709" 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/10.1002/ajmg.a.30517" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="18" class="mim-anchor"></a>
|
|
<a id="Zander1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Zander, N. F., Meyer, H. E., Hoffmann-Posorske, E., Crabb, J. W., Heilmeyer, L. M. G., Jr., Kilimann, M. W.
|
|
<strong>cDNA cloning and complete primary structure of skeletal muscle phosphorylase kinase (alpha subunit).</strong>
|
|
Proc. Nat. Acad. Sci. 85: 2929-2933, 1988.
|
|
|
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3362857/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3362857</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3362857" 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/10.1073/pnas.85.9.2929" target="_blank">Full Text</a>]
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</p>
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</li>
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</ol>
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<br />
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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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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Cassandra L. Kniffin - updated : 10/31/2012
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 10/12/2005<br>Marla J. F. O'Neill - updated : 11/3/2004<br>Ada Hamosh - updated : 9/25/2000
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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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 : 1/14/1991
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</span>
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</div>
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</div>
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</div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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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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carol : 06/20/2019
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mcolton : 05/01/2014<br>carol : 9/6/2013<br>carol : 11/6/2012<br>ckniffin : 10/31/2012<br>ckniffin : 9/24/2009<br>carol : 12/10/2008<br>wwang : 10/3/2008<br>ckniffin : 9/30/2008<br>carol : 10/19/2005<br>ckniffin : 10/12/2005<br>ckniffin : 10/12/2005<br>carol : 11/4/2004<br>tkritzer : 11/3/2004<br>alopez : 10/4/2000<br>terry : 9/25/2000<br>carol : 6/19/1998<br>mark : 3/27/1997<br>carol : 12/21/1994<br>mimadm : 2/28/1994<br>carol : 12/17/1993<br>carol : 9/20/1993<br>carol : 6/12/1992
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</span>
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<div class="container visible-print-block">
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<h3>
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<span class="mim-font">
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<strong>*</strong> 311870
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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PHOSPHORYLASE KINASE, MUSCLE, ALPHA-1 SUBUNIT; PHKA1
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</span>
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</h3>
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<div>
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<br />
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: PHKA1</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 819953000;
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</span>
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</p>
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<div>
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<br />
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: Xq13.1
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Genomic coordinates <span class="small">(GRCh38)</span> : X:72,578,814-72,714,306 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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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>Gene-Phenotype 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 small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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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>
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Phenotype <br /> mapping key
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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 rowspan="1">
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<span class="mim-font">
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Xq13.1
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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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Muscle glycogenosis
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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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300559
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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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X-linked recessive
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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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3
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</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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<br />
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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>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</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>The PHKA1 gene encodes the alpha subunit of muscle phosphorylase kinase (EC 2.7.1.38), a key regulatory enzyme of glycogen metabolism. Phosphorylase kinase consists of 4 copies of an alpha-beta-gamma-delta tetramer. The alpha, beta (PHKB; 172490), and gamma (PHKG1; 172470 and PHKG2; 172471) subunits have several isoforms; the delta subunit is calmodulin (CALM1; 114180). PHKA2 (306000) encodes the alpha subunit of liver-specific phosphorylase kinase and is located on the X chromosome.</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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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</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>Zander et al. (1988) isolated and sequenced a cDNA clone for rabbit Phka1 from fast-twitch skeletal muscle. The deduced 1,237-residue protein had a molecular mass of 138 Da. Seven putative serine phosphorylation sites could be identified. Northern blot analysis identified 2 mRNA transcripts. </p><p>Wullrich et al. (1993) isolated a cDNA corresponding to muscle phosphorylase kinase from a human skeletal muscle cDNA library. The deduced amino acid sequence shows 96% identity to the rabbit protein, but lacks a major part of its multiphosphorylation domain, including the main phosphorylation domain for cAMP-dependent protein kinase A (PKA; 601639). Analysis of this region by RT-PCR showed that it is subject to alternative mRNA splicing. The expression of the differentially spliced PHKA1 subtypes differed markedly between corresponding human and rabbit tissues. </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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<h4>
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<span class="mim-font">
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<strong>Mapping</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>Buckle et al. (1985) studied the regional mapping of genes on the mouse X chromosome, including Phka, the mouse homolog for the human muscle phosphorylase kinase gene, and predicted that the human gene may be situated near the centromere. Ryder-Cook et al. (1989) and Barnard et al. (1990) mapped the Phka locus in the mouse distal to Zfx and proximal to Pgk1 by interspecific linkage analysis. Phka appeared to be very close to the Pgk1 locus. They predicted that the corresponding gene in man should be centromeric and close to PGK (311800) on Xq13. </p><p>By study of somatic cell hybrids and by in situ chromosomal hybridization using rabbit muscle cDNAs, Francke et al. (1989) mapped 2 of the 4 subunits that comprise muscle phosphorylase kinase: the alpha subunit to Xq12-q13 and the beta subunit to 16q12-q13. </p><p>Lafreniere et al. (1993) showed that the PHKA1 gene is in the same 2.6-Mb segment as RPS4X (312760) and XIST (314670) in Xq13. Furthermore, they showed that the transcriptional orientation of the gene is cen--3-prime--PHKA1--5-prime--qter. </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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<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>In a patient with, glycogen storage disease type IXd (GSD9D; 300559), also known as X-linked muscle phosphorylase kinase deficiency (Clemens et al., 1990), Wehner et al. (1994) identified a nonsense mutation in the PHKA1 gene (311870.0001). The findings confirmed that the condition in this patient was a human homolog of the X-linked muscle Phk deficiency of the I-strain mouse (Schneider et al., 1993). In a second patient with muscle phosphorylase kinase deficiency reported by Clemens et al. (1990), Burwinkel et al. (2003) identified a missense mutation in the PHKA1 gene (311870.0003). </p><p>Bruno et al. (1998) reported a splice-junction mutation in the PHKA1 gene (311870.0002) in a 28-year old Caucasian male with exercise intolerance, myoglobinuria, and muscle PHK deficiency. </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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<h4>
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<span class="mim-font">
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<strong>Animal Model</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>Lyon et al. (1967) found an X-linked codominant electrophoretic polymorphism of muscle phosphorylase b kinase in the mouse. </p><p>Davidson et al. (1992) presented evidence that the murine equivalent of the PHKA1 gene is mutant in the I-strain of mice with myopathy. Schneider et al. (1993) described the first specific mutation responsible for any form of PHK deficiency: a single-nucleotide insertion in the coding sequence of the alpha-1 subunit muscle isozyme in the I-strain mouse. </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>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>5 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 GLYCOGEN STORAGE DISEASE, TYPE IXd</strong>
|
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</span>
|
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</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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PHKA1, GLU1112TER
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<br />
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SNP: rs137852546,
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ClinVar: RCV000010601
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a patient with glycogen storage disease IXd (GSD9D; 300559) reported by Clemens et al. (1990), Wehner et al. (1994) identified a nonsense mutation, glu1112-to-ter (E1112X), in the PHKA1 gene. The PHK activity was only 0.3% of normal in muscle, but showed normal levels in red blood cells and liver. Histologically, mild glycogenosis with subsarcolemmal accumulations of glycogen and focal muscle fiber necrosis were observed. The patient's mother, who died at the age of about 26 years, and his daughter, aged 33 at the time of the report, were reportedly asymptomatic. </p>
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</span>
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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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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
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<strong>.0002 GLYCOGEN STORAGE DISEASE, TYPE IXd</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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PHKA1, IVSL, G-C, +1
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<br />
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ClinVar: RCV000010602
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 28-year-old man with muscle phosphorylase kinase deficiency (GSD9D; 300559), Bruno et al. (1998) identified a G-to-C transversion at the 5-prime end of an intron (referred to as 'intron L' by them) in the PHKA1 gene. The mutation destroys the highly conserved GT sequence at the 5-prime splice junction of the intron, which resulted in skipping of the preceding 201-bp exon. The patient, reported as patient 1 of Wilkinson et al. (1994), had been diagnosed with PHK deficiency at age 15. </p>
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</span>
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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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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
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<strong>.0003 GLYCOGEN STORAGE DISEASE, TYPE IXd</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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PHKA1, ASP299VAL
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<br />
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SNP: rs137852547,
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ClinVar: RCV000010603
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
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<p>In a patient with muscle phosphorylase kinase deficiency (GSD9D; 300559) reported by Clemens et al. (1990), Burwinkel et al. (2003) identified an 896A-T transversion in the PHKA1 gene, resulting in an asp299-to-val (D299V) substitution in a highly conserved region of the protein. Muscle biopsy showed increased subsarcolemmal glycogen accumulation. Total phosphorylase was normal in muscle, and PhK activity was markedly reduced in muscle but normal in red blood cells. </p>
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</span>
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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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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 GLYCOGEN STORAGE DISEASE, TYPE IXd</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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PHKA1, 1-BP DEL, 695C
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<br />
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SNP: rs1603266754,
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ClinVar: RCV000010604
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient with muscle phosphorylase kinase deficiency (GSD9D; 300559) who had onset of symptoms at age 43 years, Wuyts et al. (2005) identified a 1-bp deletion, 695delC, in exon 7 of the PHKA1 gene, resulting in a frameshift and premature termination of the protein at amino acid position 242. The mutated protein was predicted to lack the multiphosphorylation domain located in the last 300 residues of the protein, thus rendering it nonfunctional. </p><p>Preisler et al. (2012) identified a 695delC mutation in a 69-year-old man with GSD IXd who had persistently raised levels of creatine kinase after treatment with statin therapy. He had worked in the military, and neurologic and EMG examination at age 64 were normal. Muscle biopsy showed increased glycogen and PHK activity was less than 11% of normal. Ischemic forearm exercise test was essentially similar to control, except for an increase in plasma ammonia. In contrast, aerobic exercise resulted in a blunted lactate response compared to controls, suggesting a mild impairment in muscle glycogenolysis. Preisler et al. (2012) suggested that high exercise intensity may activate myophosphorylase (PYGM; 608455) in patients with PHK deficiency, thus preserving some glycogenolysis in these patients. </p>
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<strong>.0005 GLYCOGEN STORAGE DISEASE, TYPE IXd</strong>
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PHKA1, GLY223ARG
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SNP: rs137852548,
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ClinVar: RCV000010605
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<p>In a 50-year-old man with muscle phosphorylase kinase deficiency (GSD9D; 300559), Orngreen et al. (2008) identified an 831G-A transition in exon 7 of the PHKA1 gene, resulting in a gly223-to-arg (G223R) substitution. The patient reported progressive exercise intolerance, muscle stiffness on exercise, and nighttime muscle cramps since childhood. Serum creatine kinase levels were mildly elevated on several occasions, and there was low muscle PHK activity and high muscle glycogen content. </p>
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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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<p class="mim-text-font">
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Barnard, P. J., Derry, J. M. J., Ryder-Cook, A. S., Zander, N. F., Kilimann, M. W.
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<strong>Mapping of the phosphorylase kinase alpha subunit gene on the mouse X chromosome.</strong>
|
|
Cytogenet. Cell Genet. 53: 91-94, 1990.
|
|
|
|
|
|
[PubMed: 1973380]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1159/000132902]
|
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</p>
|
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</li>
|
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|
|
<li>
|
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|
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Bruno, C., Manfredi, G., Andreu, A. L., Shanske, S., Krishna, S., Ilse, W. K., DiMauro, S.
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<strong>A splice junction mutation in the alpha-M gene of phosphorylase kinase in a patient with myopathy.</strong>
|
|
Biochem. Biophys. Res. Commun. 249: 648-651, 1998.
|
|
|
|
|
|
[PubMed: 9731190]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1006/bbrc.1998.9211]
|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Buckle, V. J., Edwards, J. H., Evans, E. P., Jonasson, J. A., Lyon, M. F., Peters, J., Searle, A. G.
|
|
<strong>Comparative maps of human and mouse X chromosomes. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 40: 594-595, 1985.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Burwinkel, B., Hu, B., Schroers, A., Clemens, P. R., Moses, S. W., Shin, Y. S., Pongratz, D., Vorgerd, M., Kilimann, M. W.
|
|
<strong>Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases.</strong>
|
|
Europ. J. Hum. Genet. 11: 516-526, 2003.
|
|
|
|
|
|
[PubMed: 12825073]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/sj.ejhg.5200996]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Clemens, P. R., Yamamoto, M., Engel, A. G.
|
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<strong>Adult phosphorylase b kinase deficiency.</strong>
|
|
Ann. Neurol. 28: 529-538, 1990.
|
|
|
|
|
|
[PubMed: 2252364]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ana.410280410]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
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Davidson, J. J., Ozcelik, T., Hamacher, C., Willems, P. J., Francke, U., Kilimann, M. W.
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<strong>cDNA cloning of a liver isoform of the phosphorylase kinase alpha subunit and mapping of the gene to Xp22.2-p22.1, the region of human X-linked liver glycogenosis.</strong>
|
|
Proc. Nat. Acad. Sci. 89: 2096-2100, 1992.
|
|
|
|
|
|
[PubMed: 1372435]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.89.6.2096]
|
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</p>
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</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
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Francke, U., Darras, B. T., Zander, N. F., Kilimann, M. W.
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<strong>Assignment of human genes for phosphorylase kinase subunits alpha (PHKA) to Xq12-q13 and beta (PHKB) to 16q12-q13.</strong>
|
|
Am. J. Hum. Genet. 45: 276-282, 1989.
|
|
|
|
|
|
[PubMed: 2757032]
|
|
|
|
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lafreniere, R. G., Brown, C. J., Rider, S., Chelly, J., Taillon-Miller, P., Chinault, A. C., Monaco, A. P., Willard, H. F.
|
|
<strong>2.6 Mb YAC contig of the human X inactivation center region in Xq13: physical linkage of the RPS4X, PHKA1, XIST and DXS128E genes.</strong>
|
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Hum. Molec. Genet. 2: 1105-1115, 1993.
|
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|
|
[PubMed: 8401491]
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|
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[Full Text: https://doi.org/10.1093/hmg/2.8.1105]
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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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Lyon, J. B., Jr., Porter, J., Robertson, M.
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<strong>Phosphorylase B kinase inheritance in mice.</strong>
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Science 155: 1550-1551, 1967.
|
|
|
|
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[PubMed: 6020474]
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[Full Text: https://doi.org/10.1126/science.155.3769.1550]
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</p>
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<li>
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Orngreen, M. C., Schelhaas, H. J., Jeppesen, T. D., Akman, H. O., Wevers, R. A., Andersen, S. T., ter Laak, H. J., van Diggelen, O. P., DiMauro, S., Vissing, J.
|
|
<strong>Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency?</strong>
|
|
Neurology 70: 1876-1882, 2008.
|
|
|
|
|
|
[PubMed: 18401027]
|
|
|
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|
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[Full Text: https://doi.org/10.1212/01.wnl.0000289190.66955.67]
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</li>
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Preisler, N., Orngreen, M. C., Echaniz-Laguna, A., Laforet, P., Lonsdorfer-Wolf, E., Doutreleau, S., Geny, B., Akman, H.O., DiMauro, S., Vissing, J.
|
|
<strong>Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease?</strong>
|
|
Neurology 78: 265-268, 2012.
|
|
|
|
|
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[PubMed: 22238410]
|
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|
|
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[Full Text: https://doi.org/10.1212/WNL.0b013e31824365f9]
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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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Ryder-Cook, A. S., Derry, J. M. J., Barnard, P. J.
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<strong>Localization of the phosphorylase kinase alpha subunit gene on the mouse X chromosome. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 51: 1071-1072, 1989.
|
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</p>
|
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</li>
|
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|
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<li>
|
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<p class="mim-text-font">
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Schneider, A., Davidson, J. J., Wullrich, A., Kilimann, M. W.
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<strong>Phosphorylase kinase deficiency in I-strain mice is associated with a frameshift mutation in the alpha-subunit muscle isoform.</strong>
|
|
Nature Genet. 5: 381-385, 1993.
|
|
|
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|
|
[PubMed: 8298647]
|
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|
|
|
|
[Full Text: https://doi.org/10.1038/ng1293-381]
|
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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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Wehner, M., Clemens, P. R., Engel, A. G., Kilimann, M. W.
|
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<strong>Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit.</strong>
|
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Hum. Molec. Genet. 3: 1983-1987, 1994.
|
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|
|
[PubMed: 7874115]
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[Full Text: https://doi.org/10.1093/hmg/3.11.1983]
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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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Wilkinson, D. A., Tonin, P., Shanske, S., Lombes, A., Carlson, G. M., DiMauro, S.
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<strong>Clinical and biochemical features of 10 adult patients with muscle phosphorylase kinase deficiency.</strong>
|
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Neurology 44: 461-466, 1994.
|
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[PubMed: 8145916]
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[Full Text: https://doi.org/10.1212/wnl.44.3_part_1.461]
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<p class="mim-text-font">
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Wullrich, A., Hamacher, C., Schneider, A., Kilimann, M. W.
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<strong>The multiphosphorylation domain of the phosphorylase kinase alpha-M and alpha-L subunits is a hotspot of differential mRNA processing and of molecular evolution.</strong>
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J. Biol. Chem. 268: 23208-23214, 1993.
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[PubMed: 8226841]
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<p class="mim-text-font">
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Wuyts, W., Reyniers, E., Ceuterick, C., Storm, K., de Barsy, T., Martin, J.-J.
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<strong>Myopathy and phosphorylase kinase deficiency caused by a mutation in the PHKA1 gene.</strong>
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Am. J. Med. Genet. 133A: 82-84, 2005.
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[PubMed: 15637709]
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[Full Text: https://doi.org/10.1002/ajmg.a.30517]
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Zander, N. F., Meyer, H. E., Hoffmann-Posorske, E., Crabb, J. W., Heilmeyer, L. M. G., Jr., Kilimann, M. W.
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<strong>cDNA cloning and complete primary structure of skeletal muscle phosphorylase kinase (alpha subunit).</strong>
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Proc. Nat. Acad. Sci. 85: 2929-2933, 1988.
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[PubMed: 3362857]
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[Full Text: https://doi.org/10.1073/pnas.85.9.2929]
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Cassandra L. Kniffin - updated : 10/31/2012<br>Cassandra L. Kniffin - updated : 10/12/2005<br>Marla J. F. O'Neill - updated : 11/3/2004<br>Ada Hamosh - updated : 9/25/2000
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carol : 06/20/2019<br>mcolton : 05/01/2014<br>carol : 9/6/2013<br>carol : 11/6/2012<br>ckniffin : 10/31/2012<br>ckniffin : 9/24/2009<br>carol : 12/10/2008<br>wwang : 10/3/2008<br>ckniffin : 9/30/2008<br>carol : 10/19/2005<br>ckniffin : 10/12/2005<br>ckniffin : 10/12/2005<br>carol : 11/4/2004<br>tkritzer : 11/3/2004<br>alopez : 10/4/2000<br>terry : 9/25/2000<br>carol : 6/19/1998<br>mark : 3/27/1997<br>carol : 12/21/1994<br>mimadm : 2/28/1994<br>carol : 12/17/1993<br>carol : 9/20/1993<br>carol : 6/12/1992
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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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