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<meta name="keywords" content="C0751882, cms, congenital mg, congenital myasthenia, congenital myasthenia gravis, congenital myasthenia syndrome, congenital myasthenias, congenital myasthenic syndrome, congenital myasthenic syndromes, disease or syndrome, erb-goldflam syndrome, familial limb-girdle myasthenia, gravi, congenital myasthenia, myasthenia gravis congenital, myasthenia gravis pseudoparalytica, myasthenia gravis, congenital, myasthenia, congenital, myasthenias, congenital, myasthenic syndrome, congenital, myasthenic syndromes, congenital, myo9a, slc25a1, slc5a7, syndrome, congenital myasthenic, syndromes, congenital myasthenic, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Some individuals have episodes of breathing problems that may be triggered by fevers or infection. Severely affected individuals may also experience short pauses in breathing (apnea) that can lead to a bluish appearance of the skin or lips (cyanosis).\n\nCongenital myasthenic syndrome is a group of conditions characterized by muscle weakness (myasthenia) that worsens with physical exertion. The muscle weakness typically begins in early childhood but can also appear in adolescence or adulthood. Facial muscles, including muscles that control the eyelids, muscles that move the eyes, and muscles used for chewing and swallowing, are most commonly affected. However, any of the muscles used for movement (skeletal muscles) can be affected in this condition. Due to muscle weakness, affected infants may have feeding difficulties. Development of motor skills such as crawling or walking may be delayed. The severity of the myasthenia varies greatly, with some people experiencing minor weakness and others having such severe weakness that they are unable to walk." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=155650
|
||
ConceptID=C0751882
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Congenital myasthenic syndrome<span class="h1sub">(CMS)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155650</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C0751882</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>CMS; Congenital Myasthenic Syndromes</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Congenital myasthenia (230672006); Congenital myasthenic syndrome (230672006); Congenital myasthenia syndrome (230672006)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Genes (locations):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="MYO9A - ID: 4649 - NCBI Gene" href="/gene/4649" class="medgenPMinfo">MYO9A</a> (15q23); <a target="_blank" title="SLC25A1 - ID: 6576 - NCBI Gene" href="/gene/6576" class="medgenPMinfo">SLC25A1</a> (22q11.21); <a target="_blank" title="SLC5A7 - ID: 60482 - NCBI Gene" href="/gene/60482" class="medgenPMinfo">SLC5A7</a> (2q12.3)</td></tr>
|
||
<tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/285489">DOK7</a>, <a target="_blank" href="/gene/8292">COLQ</a>, <a target="_blank" href="/gene/6329">SCN4A</a>, <a target="_blank" href="/gene/2673">GFPT1</a>, <a target="_blank" href="/gene/1145">CHRNE</a>, <a target="_blank" href="/gene/1134">CHRNA1</a>, <a target="_blank" href="/gene/1103">CHAT</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0018940" target="_blank">MONDO:0018940</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS601462" target="_blank">PS601462</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=590">ORPHA590</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Some individuals have episodes of breathing problems that may be triggered by fevers or infection. Severely affected individuals may also experience short pauses in breathing (apnea) that can lead to a bluish appearance of the skin or lips (cyanosis).<br /><br />Congenital myasthenic syndrome is a group of conditions characterized by muscle weakness (myasthenia) that worsens with physical exertion. The muscle weakness typically begins in early childhood but can also appear in adolescence or adulthood. Facial muscles, including muscles that control the eyelids, muscles that move the eyes, and muscles used for chewing and swallowing, are most commonly affected. However, any of the muscles used for movement (skeletal muscles) can be affected in this condition. Due to muscle weakness, affected infants may have feeding difficulties. Development of motor skills such as crawling or walking may be delayed. The severity of the myasthenia varies greatly, with some people experiencing minor weakness and others having such severe weakness that they are unable to walk. [from <a title="MedlinePlus Genetics" href="https://medlineplus.gov/genetics/" class="defSource" target="_blank">MedlinePlus Genetics</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0751882[DISCUI]&test_type=Clinical" ref="ncbi_uid=155650">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1168/" ref="ncbi_uid=155650">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=155650" ref="ncbi_uid=155650">V</a></span></span><span class="TLline">Congenital myasthenic syndrome</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN119608[DISCUI]&test_type=Clinical" ref="ncbi_uid=468519">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1168/" ref="ncbi_uid=468519">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=468519" ref="ncbi_uid=468519">V</a></span></span><span class="TLline"><a href="/medgen/468519" ref="tree=GTR&ncbi_uid=468519&link_uid=468519" title="View MedGen record for 'CHRNA1-Related Congenital Myasthenic Syndrome'">CHRNA1-Related Congenital Myasthenic Syndrome</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2931107[DISCUI]&test_type=Clinical" ref="ncbi_uid=419336">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1168/" ref="ncbi_uid=419336">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=419336" ref="ncbi_uid=419336">V</a></span></span><span class="TLline"><a href="/medgen/419336" ref="tree=GTR&ncbi_uid=419336&link_uid=419336" title="View MedGen record for 'Congenital myasthenic syndrome 1A'">Congenital myasthenic syndrome 1A</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4225405[DISCUI]&test_type=Clinical" ref="ncbi_uid=909200">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=909200" target="_blank" href="/omim/100690">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1168/" ref="ncbi_uid=909200">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=909200" ref="ncbi_uid=909200">V</a></span></span><span class="TLline"><a href="/medgen/909200" ref="tree=GTR&ncbi_uid=909200&link_uid=909200" title="View MedGen record for 'Myasthenic syndrome, congenital, 1B, fast-channel'">Myasthenic syndrome, congenital, 1B, fast-channel</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1864233[DISCUI]&test_type=Clinical" ref="ncbi_uid=400481">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=400481" target="_blank" href="/omim/603033">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1168/" ref="ncbi_uid=400481">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=400481" ref="ncbi_uid=400481">V</a></span></span><span class="TLline"><a href="/medgen/400481" ref="tree=GTR&ncbi_uid=400481&link_uid=400481" title="View MedGen record for 'Congenital myasthenic syndrome 5'">Congenital myasthenic syndrome 5</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1850792[DISCUI]&test_type=Clinical" ref="ncbi_uid=376880">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=376880" target="_blank" href="/omim/254300">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1168/" ref="ncbi_uid=376880">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=376880" ref="ncbi_uid=376880">V</a></span></span><span class="TLline"><a href="/medgen/376880" ref="tree=GTR&ncbi_uid=376880&link_uid=376880" title="View MedGen record for 'Congenital myasthenic syndrome 10'">Congenital myasthenic syndrome 10</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3280112[DISCUI]&test_type=Clinical" ref="ncbi_uid=481742">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=481742" target="_blank" href="/omim/603967">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1168/" ref="ncbi_uid=481742">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=481742" ref="ncbi_uid=481742">V</a></span></span><span class="TLline"><a href="/medgen/481742" ref="tree=GTR&ncbi_uid=481742&link_uid=481742" title="View MedGen record for 'Congenital myasthenic syndrome 16'">Congenital myasthenic syndrome 16</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1837091[DISCUI]&test_type=Clinical" ref="ncbi_uid=373251">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=373251" target="_blank" href="/omim/100725">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1168/" ref="ncbi_uid=373251">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=373251" ref="ncbi_uid=373251">V</a></span></span><span class="TLline"><a href="/medgen/373251" ref="tree=GTR&ncbi_uid=373251&link_uid=373251" title="View MedGen record for 'Congenital myasthenic syndrome 4C'">Congenital myasthenic syndrome 4C</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0393929[DISCUI]&test_type=Clinical" ref="ncbi_uid=140751">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=140751" target="_blank" href="/omim/118490">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1168/" ref="ncbi_uid=140751">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=140751" ref="ncbi_uid=140751">V</a></span></span><span class="TLline"><a href="/medgen/140751" ref="tree=GTR&ncbi_uid=140751&link_uid=140751" title="View MedGen record for 'Familial infantile myasthenia'">Familial infantile myasthenia</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0751885[DISCUI]&test_type=Clinical" ref="ncbi_uid=199759">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1168/" ref="ncbi_uid=199759">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=199759" ref="ncbi_uid=199759">V</a></span></span><span class="TLline"><a href="/medgen/199759" ref="tree=GTR&ncbi_uid=199759&link_uid=199759" title="View MedGen record for 'Myasthenic syndrome, slow-channel congenital'">Myasthenic syndrome, slow-channel congenital</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/14319" ref="tree=MeSH" title="MedGen record for Congenital, Hereditary, and Neonatal Diseases and Abnormalities">Congenital, Hereditary, and Neonatal Diseases and Abnormalities</a></span><ul><li><span class="TLline"><a href="/medgen/181981" ref="tree=MeSH" title="MedGen record for Inborn genetic diseases">Inborn genetic diseases</a></span><ul><li><span class="matched_ds">Congenital myasthenic syndrome</span><ul><li><span class="TLline"><a href="/medgen/468519" ref="tree=MeSH" title="MedGen record for CHRNA1-Related Congenital Myasthenic Syndrome">CHRNA1-Related Congenital Myasthenic Syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/419336" ref="tree=MeSH" title="MedGen record for Congenital myasthenic syndrome 1A">Congenital myasthenic syndrome 1A</a></span></li><li><span class="TLline"><a href="/medgen/909200" ref="tree=MeSH" title="MedGen record for Myasthenic syndrome, congenital, 1B, fast-channel">Myasthenic syndrome, congenital, 1B, fast-channel</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/400481" ref="tree=MeSH" title="MedGen record for Congenital myasthenic syndrome 5">Congenital myasthenic syndrome 5</a></span></li><li><span class="TLline"><a href="/medgen/376880" ref="tree=MeSH" title="MedGen record for Congenital myasthenic syndrome 10">Congenital myasthenic syndrome 10</a></span></li><li><span class="TLline"><a href="/medgen/902189" ref="tree=MeSH" title="MedGen record for Congenital myasthenic syndrome 11">Congenital myasthenic syndrome 11</a></span></li><li><span class="TLline"><a href="/medgen/765249" ref="tree=MeSH" title="MedGen record for Congenital myasthenic syndrome 12">Congenital myasthenic syndrome 12</a></span></li><li><span class="TLline"><a href="/medgen/481742" ref="tree=MeSH" title="MedGen record for Congenital myasthenic syndrome 16">Congenital myasthenic syndrome 16</a></span></li><li><span class="TLline"><a href="/medgen/373251" ref="tree=MeSH" title="MedGen record for Congenital myasthenic syndrome 4C">Congenital myasthenic syndrome 4C</a></span></li><li><span class="TLline"><a href="/medgen/1842196" ref="tree=MeSH" title="MedGen record for Congenital myasthenic syndromes with glycosylation defect">Congenital myasthenic syndromes with glycosylation defect</a></span></li><li><span class="TLline"><a href="/medgen/140751" ref="tree=MeSH" title="MedGen record for Familial infantile myasthenia">Familial infantile myasthenia</a></span></li><li><span class="TLline"><a href="/medgen/199759" ref="tree=MeSH" title="MedGen record for Myasthenic syndrome, slow-channel congenital">Myasthenic syndrome, slow-channel congenital</a></span></li><li><span class="TLline"><a href="/medgen/199758" ref="tree=MeSH" title="MedGen record for Postsynaptic congenital myasthenic syndrome">Postsynaptic congenital myasthenic syndrome</a></span></li><li><span class="TLline"><a href="/medgen/155651" ref="tree=MeSH" title="MedGen record for Presynaptic congenital myasthenic syndrome">Presynaptic congenital myasthenic syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1843272" ref="tree=MeSH" title="MedGen record for Synaptic congenital myasthenic syndromes">Synaptic congenital myasthenic syndromes</a></span></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=8737&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Congenital myasthenic syndrome</span> in Orphanet.</div></div></div>
|
||
</div>
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||
<div class="portlet mgSection" id="ID_105">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34999496">Treatment of slow-channel congenital myasthenic syndrome in a Thai family with fluoxetine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dejthevaporn C,
|
||
Wetchaphanphesat S,
|
||
Pulkes T,
|
||
Rattanasiri S,
|
||
Engel AG,
|
||
Witoonpanich R</span><br />
|
||
<span class="medgenPMjournal">J Clin Neurosci</span>
|
||
2022 Feb;96:85-89.
|
||
Epub 2022 Jan 6
|
||
doi: 10.1016/j.jocn.2021.12.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34999496" target="_blank">34999496</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26552645">Effective Treatment With Albuterol in DOK7 Congenital Myasthenic Syndrome in Children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tsao CY</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2016 Jan;54:85-7.
|
||
Epub 2015 Nov 6
|
||
doi: 10.1016/j.pediatrneurol.2015.09.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26552645" target="_blank">26552645</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24425145">Pharmacologic treatment of downstream of tyrosine kinase 7 congenital myasthenic syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Witting N,
|
||
Vissing J</span><br />
|
||
<span class="medgenPMjournal">JAMA Neurol</span>
|
||
2014 Mar;71(3):350-4.
|
||
doi: 10.1001/jamaneurol.2013.5590.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24425145" target="_blank">24425145</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22congenital%20myasthenic%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (13)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34932651">Congenital myasthenic syndrome in a cohort of patients with 'double' seronegative myasthenia gravis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lorenzoni PJ,
|
||
Ducci RD,
|
||
Arndt RC,
|
||
Hrysay NMC,
|
||
Fustes OJH,
|
||
Töpf A,
|
||
Lochmüller H,
|
||
Werneck LC,
|
||
Kay CSK,
|
||
Scola RH</span><br />
|
||
<span class="medgenPMjournal">Arq Neuropsiquiatr</span>
|
||
2022 Jan;80(1):69-74.
|
||
doi: 10.1590/0004-282X-ANP-2020-0575.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34932651" target="_blank">34932651</a><a href="/pmc/articles/PMC9651496" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32703467">Congenital Myasthenic Syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iyadurai SJP</span><br />
|
||
<span class="medgenPMjournal">Neurol Clin</span>
|
||
2020 Aug;38(3):541-552.
|
||
doi: 10.1016/j.ncl.2020.03.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32703467" target="_blank">32703467</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29655455">Congenital Myasthenic Syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shieh PB,
|
||
Oh SJ</span><br />
|
||
<span class="medgenPMjournal">Neurol Clin</span>
|
||
2018 May;36(2):367-378.
|
||
doi: 10.1016/j.ncl.2018.01.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29655455" target="_blank">29655455</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20852878">Current approach to seronegative myasthenia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Argov Z</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2011 Jan;258(1):14-8.
|
||
Epub 2010 Sep 18
|
||
doi: 10.1007/s00415-010-5746-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20852878" target="_blank">20852878</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15367858">Congenital myasthenic syndromes.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hantaï D,
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Richard P,
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Koenig J,
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<div class="nl"><a target="_blank" href="/pubmed/39051439">Congenital myasthenic syndromes: increasingly complex.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ramdas S,
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<div class="portlet_content ln"><span class="medgenPMauthor">Rathore G,
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<div class="portlet_content ln"><span class="medgenPMauthor">Tayade K,
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<div class="nl"><a target="_blank" href="/pubmed/25037091">Muscle channelopathies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Statland J,
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<div class="nl"><a target="_blank" href="/pubmed/35396808">Tulobuterol is a potential therapeutic drug in congenital myasthenic syndrome.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35092298">DOK7 congenital myasthenic syndrome responsive to oral salbutamol.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/15367858">Congenital myasthenic syndromes.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hantaï D,
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Richard P,
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Koenig J,
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Eymard B</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/15367858" target="_blank">15367858</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20myasthenic%20syndrome%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (78)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/29377152">A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in LAMA5.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Maselli RA,
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Arredondo J,
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Vázquez J,
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Chong JX,
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Bamshad MJ,
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Nickerson DA,
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Lara M,
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Ng F,
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Lo VL,
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Pytel P,
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McDonald CM</span><br />
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<div class="nl"><a target="_blank" href="/pubmed/28253535">Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome.</a></div>
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Lin W,
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Delle Vedove A,
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Ye Q,
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Saggar A,
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Krishnakumar SS;
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Pitt M,
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Bello OD,
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Rothman JE,
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Basel-Vanagaite L,
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Hubshman MW,
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|
||
<div class="nl"><a target="_blank" href="/pubmed/26282582">SRSF1 and hnRNP H antagonistically regulate splicing of COLQ exon 16 in a congenital myasthenic syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Rahman MA,
|
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Azuma Y,
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Nasrin F,
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Takeda J,
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Nazim M,
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Bin Ahsan K,
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Masuda A,
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Engel AG,
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Ohno K</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/26282582" target="_blank">26282582</a><a href="/pmc/articles/PMC4539547" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/12771277">Treatment of slow-channel congenital myasthenic syndrome with fluoxetine.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Harper CM,
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Fukodome T,
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<span class="medgenPMjournal">Neurology</span>
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<span class="bold">PMID: </span><a href="/pubmed/12771277" target="_blank">12771277</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20myasthenic%20syndrome%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (97)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/36768582">Neuromuscular and Neuromuscular Junction Manifestations of the PURA-NDD: A Systematic Review of the Reported Symptoms and Potential Treatment Options.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mroczek M,
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Iyadurai S</span><br />
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<span class="medgenPMjournal">Int J Mol Sci</span>
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2023 Jan 23;24(3)
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<span class="bold">PMID: </span><a href="/pubmed/36768582" target="_blank">36768582</a><a href="/pmc/articles/PMC9917016" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33325393">Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Desaphy JF,
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Altamura C,
|
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Vicart S,
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Fontaine B</span><br />
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<span class="medgenPMjournal">J Neuromuscul Dis</span>
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<span class="bold">PMID: </span><a href="/pubmed/33325393" target="_blank">33325393</a><a href="/pmc/articles/PMC8203248" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20myasthenic%20syndrome%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div></div>
|
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|
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|
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|
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<div class="supplemental col three_col last">
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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|
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|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
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</div>
|
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|
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<div class="portlet mgSection" id="ID_106">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0751882%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (11)</a></li>
|
||
<li><a href="/gtr/tests?term=C0751882%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C0751882%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0751882%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C0751882%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (28)</a></li>
|
||
<li><a href="/gtr/tests?term=C0751882%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0751882%5bDISCUI%5d" target="_blank">See all (34)</a></total></li>
|
||
</ul></div>
|
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</div>
|
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<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/phenotypicSeries/PS601462" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=590" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Congenital%20myasthenic%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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</div>
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22congenital%20myasthenic%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Congenital%20myasthenic%20syndrome%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=190315%20604875%20608761" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=4649[geneid]" target="_blank">View MYO9A variations in ClinVar</a></li><li><a href="/clinvar/?term=6576[geneid]" target="_blank">View SLC25A1 variations in ClinVar</a></li><li><a href="/clinvar/?term=60482[geneid]" target="_blank">View SLC5A7 variations in ClinVar</a></li></ul></div>
|
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<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Congenital%20myasthenic%20syndrome" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/congenital-myasthenic-syndrome" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/11902/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
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<div class="portlet brieflink">
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<h3>Reviews</h3>
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<div class="portlet_content">
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<ul>
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<li>
|
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<a href="/pubmed/20301347" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Congenital%20myasthenic%20syndrome" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
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|
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<a href="/pubmed?term=Congenital%20myasthenic%20syndrome%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
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|
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<!-- MedGen supplemental column ends here -->
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<h3>Related information</h3>
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<div class="portlet_content DiscoveryDbLinks">
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=155650" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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</li>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=155650" ref="log$=recordlinks">Gene</a>
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<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
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</li>
|
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<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0751882[DISCUI]" ref="log$=recordlinks">GTR</a>
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
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</li>
|
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<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0751882[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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</li>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=155650" ref="log$=recordlinks">MeSH</a>
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<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=155650" ref="log$=recordlinks">OMIM(Genes)</a>
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<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=155650" ref="log$=recordlinks">PMC Articles</a>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=155650" ref="log$=recordlinks">PubMed</a>
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=155650" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
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<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=155650" ref="log$=recordlinks">PubMed (GeneReviews)</a>
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<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
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Clear
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67ca14d7b15b832ebc2f06d2">Congenital myasthenic syndrome</a>
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<div class="ralinkpop offscreen_noflow">Congenital myasthenic syndrome<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67ca14d6a68b6b5afc8fcc86">C0751882[conceptid] <span class="number">(1)</span></a>
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<a class="htb" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67ca14c784f3725e595aa4f6">LOC126805576[gene] <span class="number">(135)</span></a>
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<div class="tertiary">ClinVar</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67ca14c6a68b6b5afc8f63c7">LOC126805576 [Homo sapiens]</a>
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<div class="ralinkpop offscreen_noflow">LOC126805576 [Homo sapiens]<div class="brieflinkpopdesc">Gene ID:126805576</div></div>
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<div class="tertiary">Gene</div>
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|
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<a class="htb" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67ca14bfb15b832ebc2e79fa">LOC129929070[gene] <span class="number">(73)</span></a>
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<div class="tertiary">ClinVar</div>
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