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<meta name="keywords" content="C4015596, alg14, alg14 congenital myasthenic syndrome, cms15, cmswta, congenital myasthenic syndrome 15, congenital myasthenic syndrome 15 without tubular aggregates, congenital myasthenic syndrome caused by mutation in alg14, congenital myasthenic syndrome type 15, disease or syndrome, myasthenic syndrome, congenital, 15, myasthenic syndrome, congenital, 15, without tubular aggregates, myasthenic syndrome, congenital, type 15, myasthenic syndrome, congenital, without tubular aggregates, 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="Congenital myasthenic syndrome-15 is one of a heterogeneous group of disorders that arise from impaired signal transmission at the neuromuscular synapse and are characterized by fatigable muscle weakness (summary by Cossins et al., 2013).&#13; For a discussion of genetic heterogeneity of CMS, see CMS1A (601462)." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Congenital myasthenic syndrome 15 (Concept Id: C4015596)
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<!--
UID=864033
ConceptID=C4015596
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Congenital myasthenic syndrome 15<span class="h1sub">(CMSWTA; CMS15)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>864033</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)&#10;Click for more information."><span class="highlight" style="background-color:">C4015596</span></a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
<td>Myasthenic syndrome, congenital, 15, without tubular aggregates</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">Gene (location):<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="ALG14 - ID: 199857 - NCBI Gene" href="/gene/199857" class="medgenPMinfo">ALG14</a> (1p21.3)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0014542" target="_blank">MONDO:0014542</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/616227" target="_blank">616227</a></td></tr>
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<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">Congenital myasthenic syndrome-15 is one of a heterogeneous group of disorders that arise from impaired signal transmission at the neuromuscular synapse and are characterized by fatigable muscle weakness (summary by Cossins et al., 2013).&#13; For a discussion of genetic heterogeneity of CMS, see CMS1A (601462). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
</div>
<div class="portlet mgSection" id="ID_102">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
<div class="divPopper rprt" id="clin_107895"><div><strong>Gait disturbance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107895</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)&#10;Click for more information.">C0575081</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">The term gait disturbance can refer to any disruption of the ability to walk.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/107895">Feature record</a> | <a href="/medgen?term=%22Gait%20disturbance%22%5BClinical%20Features%5D%20OR%20107895%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_451076"><div><strong>Fatigable weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>451076</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)&#10;Click for more information.">C0947912</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/451076">Feature record</a> | <a href="/medgen?term=%22Fatigable%20weakness%22%5BClinical%20Features%5D%20OR%20451076%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_57633"><div><strong>Multiple joint contractures</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57633</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)&#10;Click for more information.">C0158118</a></dd><dt><span class="dotprefix"></span></dt><dd>Acquired Abnormality</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Multiple%20joint%20contractures%22%5BClinical%20Features%5D%20OR%2057633%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_163408"><div><strong>Frequent falls</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163408</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)&#10;Click for more information.">C0850703</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/163408">Feature record</a> | <a href="/medgen?term=%22Frequent%20falls%22%5BClinical%20Features%5D%20OR%20163408%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_866698"><div><strong>Increased jitter at single fiber EMG</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>866698</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)&#10;Click for more information.">C4021045</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">The variation in the time interval between the two action potentials of the same motor unit is called jitter. This term therefore applies to increased variability in the interval between successive action potentials of the same motor unit, which is measured by electromyography (EMG).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/866698">Feature record</a> | <a href="/medgen?term=%22Increased%20jitter%20at%20single%20fiber%20EMG%22%5BClinical%20Features%5D%20OR%20866698%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_892749"><div><strong>EMG: decremental response of compound muscle action potential to repetitive nerve stimulation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892749</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)&#10;Click for more information.">C4021728</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to a greater than normal decrease in the amplitude during the course of the investigation.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/892749">Feature record</a> | <a href="/medgen?term=%22EMG%3A%20decremental%20response%20of%20compound%20muscle%20action%20potential%20to%20repetitive%20nerve%20stimulation%22%5BClinical%20Features%5D%20OR%20892749%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1055518"><div><strong>Anti-neuromuscular Junction acetylcholine receptor antibody positivity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1055518</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms&#10;that cannot be identified in NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">CN378840</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">The presence of autoantibodies (immunoglobulins) in the blood circulation that react against neuromuscular junction acetylcholine receptors.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1055518">Feature record</a> | <a href="/medgen?term=%22Anti-neuromuscular%20Junction%20acetylcholine%20receptor%20antibody%20positivity%22%5BClinical%20Features%5D%20OR%201055518%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_2287"><div><strong>Ptosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2287</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)&#10;Click for more information.">C0005745</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/2287">Feature record</a> | <a href="/medgen?term=%22Ptosis%22%5BClinical%20Features%5D%20OR%202287%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2287" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ptosis</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1055518" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anti-neuromuscular Junction acetylcholine receptor antibody positivity</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892749" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">EMG: decremental response of compound muscle action potential to repetitive nerve stimulation</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_163408" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Frequent falls</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_866698" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased jitter at single fiber EMG</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57633" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple joint contractures</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_451076" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fatigable weakness</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107895" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gait disturbance</a></span></li></ul></li></ul></div></div>
</div>
<div class="portlet mgSection" id="ID_105">
<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/36869887">Neuromuscular junction involvement in inherited motor neuropathies: genetic heterogeneity and effect of oral salbutamol treatment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">McMacken G,
Whittaker RG,
Wake R,
Lochmuller H,
Horvath R</span><br />
<span class="medgenPMjournal">J Neurol</span>
2023 Jun;270(6):3112-3119.
Epub 2023 Mar 4
doi: 10.1007/s00415-023-11643-z.
<span class="bold">PMID: </span><a href="/pubmed/36869887" target="_blank">36869887</a><a href="/pmc/articles/PMC10188419" target="_blank" class="PubMedFree">Free PMC Article</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=(congenital%20myasthenic%20syndrome%2015)%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 (4)</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/38696726">Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Theuriet J,
Masingue M,
Behin A,
Ferreiro A,
Bassez G,
Jaubert P,
Tarabay O,
Fer F,
Pegat A,
Bouhour F,
Svahn J,
Petiot P,
Jomir L,
Chauplannaz G,
Cornut-Chauvinc C,
Manel V,
Salort-Campana E,
Attarian S,
Fortanier E,
Verschueren A,
Kouton L,
Camdessanché JP,
Tard C,
Magot A,
Péréon Y,
Noury JB,
Minot-Myhie MC,
Perie M,
Taithe F,
Farhat Y,
Millet AL,
Cintas P,
Solé G,
Spinazzi M,
Esselin F,
Renard D,
Sacconi S,
Ezaru A,
Malfatti E,
Mallaret M,
Magy L,
Diab E,
Merle P,
Michaud M,
Fournier M,
Pakleza AN,
Chanson JB,
Lefeuvre C,
Laforet P,
Richard P,
Sternberg D,
Villar-Quiles RN,
Stojkovic T,
Eymard B</span><br />
<span class="medgenPMjournal">Brain</span>
2024 Nov 4;147(11):3849-3862.
doi: 10.1093/brain/awae124.
<span class="bold">PMID: </span><a href="/pubmed/38696726" target="_blank">38696726</a><a href="/pmc/articles/PMC11531845" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/38418480">Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Núñez-Carpintero I,
Rigau M,
Bosio M,
O'Connor E,
Spendiff S,
Azuma Y,
Topf A,
Thompson R,
't Hoen PAC,
Chamova T,
Tournev I,
Guergueltcheva V,
Laurie S,
Beltran S,
Capella-Gutiérrez S,
Cirillo D,
Lochmüller H,
Valencia A</span><br />
<span class="medgenPMjournal">Nat Commun</span>
2024 Feb 28;15(1):1227.
doi: 10.1038/s41467-024-45099-0.
<span class="bold">PMID: </span><a href="/pubmed/38418480" target="_blank">38418480</a><a href="/pmc/articles/PMC10902324" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30808424">Congenital myasthenic syndromes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Finsterer J</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2019 Feb 26;14(1):57.
doi: 10.1186/s13023-019-1025-5.
<span class="bold">PMID: </span><a href="/pubmed/30808424" target="_blank">30808424</a><a href="/pmc/articles/PMC6390566" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21498094">Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Barišić N,
Chaouch A,
Müller JS,
Lochmüller H</span><br />
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
2011 May;15(3):189-96.
Epub 2011 Apr 17
doi: 10.1016/j.ejpn.2011.03.006.
<span class="bold">PMID: </span><a href="/pubmed/21498094" target="_blank">21498094</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17986328">Myasthenia gravis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Juel VC,
Massey JM</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2007 Nov 6;2:44.
doi: 10.1186/1750-1172-2-44.
<span class="bold">PMID: </span><a href="/pubmed/17986328" target="_blank">17986328</a><a href="/pmc/articles/PMC2211463" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20myasthenic%20syndrome%2015%22%20AND%20Etiology%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 (38)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/32403337">Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gonzalez-Quereda L,
Rodriguez MJ,
Diaz-Manera J,
Alonso-Perez J,
Gallardo E,
Nascimento A,
Ortez C,
Natera-de Benito D,
Olive M,
Gonzalez-Mera L,
Munain AL,
Zulaica M,
Poza JJ,
Jerico I,
Torne L,
Riera P,
Milisenda J,
Sanchez A,
Garrabou G,
Llano I,
Madruga-Garrido M,
Gallano P</span><br />
<span class="medgenPMjournal">Genes (Basel)</span>
2020 May 11;11(5)
doi: 10.3390/genes11050539.
<span class="bold">PMID: </span><a href="/pubmed/32403337" target="_blank">32403337</a><a href="/pmc/articles/PMC7288461" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31794470">Myasthenia Gravis and Congenital Myasthenic Syndromes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ciafaloni E</span><br />
<span class="medgenPMjournal">Continuum (Minneap Minn)</span>
2019 Dec;25(6):1767-1784.
doi: 10.1212/CON.0000000000000800.
<span class="bold">PMID: </span><a href="/pubmed/31794470" target="_blank">31794470</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30808424">Congenital myasthenic syndromes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Finsterer J</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2019 Feb 26;14(1):57.
doi: 10.1186/s13023-019-1025-5.
<span class="bold">PMID: </span><a href="/pubmed/30808424" target="_blank">30808424</a><a href="/pmc/articles/PMC6390566" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21498094">Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Barišić N,
Chaouch A,
Müller JS,
Lochmüller H</span><br />
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
2011 May;15(3):189-96.
Epub 2011 Apr 17
doi: 10.1016/j.ejpn.2011.03.006.
<span class="bold">PMID: </span><a href="/pubmed/21498094" target="_blank">21498094</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17986328">Myasthenia gravis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Juel VC,
Massey JM</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2007 Nov 6;2:44.
doi: 10.1186/1750-1172-2-44.
<span class="bold">PMID: </span><a href="/pubmed/17986328" target="_blank">17986328</a><a href="/pmc/articles/PMC2211463" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20myasthenic%20syndrome%2015%22%20AND%20Diagnosis%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 (39)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/38475910">COLQ-Congenital myasthenic syndrome in an Iranian cohort: the clinical and genetics spectrum.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hesami O,
Ramezani M,
Ghasemi A,
Fatehi F,
Okhovat AA,
Ziaadini B,
Kariminejad A,
Nafissi S</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2024 Mar 12;19(1):113.
doi: 10.1186/s13023-024-03116-x.
<span class="bold">PMID: </span><a href="/pubmed/38475910" target="_blank">38475910</a><a href="/pmc/articles/PMC10935773" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32838745">A cross-sectional nationwide survey of congenital and infantile nephrotic syndrome in Japan.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hamasaki Y,
Hamada R,
Muramatsu M,
Matsumoto S,
Aya K,
Ishikura K,
Kaneko T,
Iijima K</span><br />
<span class="medgenPMjournal">BMC Nephrol</span>
2020 Aug 24;21(1):363.
doi: 10.1186/s12882-020-02010-5.
<span class="bold">PMID: </span><a href="/pubmed/32838745" target="_blank">32838745</a><a href="/pmc/articles/PMC7446144" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31794470">Myasthenia Gravis and Congenital Myasthenic Syndromes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ciafaloni E</span><br />
<span class="medgenPMjournal">Continuum (Minneap Minn)</span>
2019 Dec;25(6):1767-1784.
doi: 10.1212/CON.0000000000000800.
<span class="bold">PMID: </span><a href="/pubmed/31794470" target="_blank">31794470</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30808424">Congenital myasthenic syndromes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Finsterer J</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2019 Feb 26;14(1):57.
doi: 10.1186/s13023-019-1025-5.
<span class="bold">PMID: </span><a href="/pubmed/30808424" target="_blank">30808424</a><a href="/pmc/articles/PMC6390566" target="_blank" class="PubMedFree">Free PMC Article</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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20myasthenic%20syndrome%2015%22%20AND%20Therapy%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 (19)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38696726">Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Theuriet J,
Masingue M,
Behin A,
Ferreiro A,
Bassez G,
Jaubert P,
Tarabay O,
Fer F,
Pegat A,
Bouhour F,
Svahn J,
Petiot P,
Jomir L,
Chauplannaz G,
Cornut-Chauvinc C,
Manel V,
Salort-Campana E,
Attarian S,
Fortanier E,
Verschueren A,
Kouton L,
Camdessanché JP,
Tard C,
Magot A,
Péréon Y,
Noury JB,
Minot-Myhie MC,
Perie M,
Taithe F,
Farhat Y,
Millet AL,
Cintas P,
Solé G,
Spinazzi M,
Esselin F,
Renard D,
Sacconi S,
Ezaru A,
Malfatti E,
Mallaret M,
Magy L,
Diab E,
Merle P,
Michaud M,
Fournier M,
Pakleza AN,
Chanson JB,
Lefeuvre C,
Laforet P,
Richard P,
Sternberg D,
Villar-Quiles RN,
Stojkovic T,
Eymard B</span><br />
<span class="medgenPMjournal">Brain</span>
2024 Nov 4;147(11):3849-3862.
doi: 10.1093/brain/awae124.
<span class="bold">PMID: </span><a href="/pubmed/38696726" target="_blank">38696726</a><a href="/pmc/articles/PMC11531845" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29702980">CHRNE compound heterozygous mutations in congenital myasthenic syndrome: A case report.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yang K,
Cheng H,
Yuan F,
Meng L,
Yin R,
Zhang Y,
Wang S,
Wang C,
Lu Y,
Xi J,
Lu Q,
Chen Y</span><br />
<span class="medgenPMjournal">Medicine (Baltimore)</span>
2018 Apr;97(17):e0347.
doi: 10.1097/MD.0000000000010347.
<span class="bold">PMID: </span><a href="/pubmed/29702980" target="_blank">29702980</a><a href="/pmc/articles/PMC5944527" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27588369">Limb-girdle congenital myasthenic syndrome in a Chinese family with novel mutations in MUSK gene and literature review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Luan X,
Tian W,
Cao L</span><br />
<span class="medgenPMjournal">Clin Neurol Neurosurg</span>
2016 Nov;150:41-45.
Epub 2016 Aug 22
doi: 10.1016/j.clineuro.2016.08.021.
<span class="bold">PMID: </span><a href="/pubmed/27588369" target="_blank">27588369</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22088788">Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wargon I,
Richard P,
Kuntzer T,
Sternberg D,
Nafissi S,
Gaudon K,
Lebail A,
Bauche S,
Hantaï D,
Fournier E,
Eymard B,
Stojkovic T</span><br />
<span class="medgenPMjournal">Neuromuscul Disord</span>
2012 Apr;22(4):318-24.
Epub 2011 Nov 15
doi: 10.1016/j.nmd.2011.09.002.
<span class="bold">PMID: </span><a href="/pubmed/22088788" target="_blank">22088788</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17986328">Myasthenia gravis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Juel VC,
Massey JM</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2007 Nov 6;2:44.
doi: 10.1186/1750-1172-2-44.
<span class="bold">PMID: </span><a href="/pubmed/17986328" target="_blank">17986328</a><a href="/pmc/articles/PMC2211463" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20myasthenic%20syndrome%2015%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 (18)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/33604899">Developing outcome measures of disease activity in pediatric myasthenia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Prior DE,
Cooper BA,
Zhang B,
Ghosh PS</span><br />
<span class="medgenPMjournal">Muscle Nerve</span>
2021 May;63(5):751-757.
Epub 2021 Feb 28
doi: 10.1002/mus.27208.
<span class="bold">PMID: </span><a href="/pubmed/33604899" target="_blank">33604899</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29189923">Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">McMacken G,
Whittaker RG,
Evangelista T,
Abicht A,
Dusl M,
Lochmüller H</span><br />
<span class="medgenPMjournal">J Neurol</span>
2018 Jan;265(1):194-203.
Epub 2017 Nov 30
doi: 10.1007/s00415-017-8689-3.
<span class="bold">PMID: </span><a href="/pubmed/29189923" target="_blank">29189923</a><a href="/pmc/articles/PMC5760613" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28755803">Sleep in infants with congenital myasthenic syndromes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Caggiano S,
Khirani S,
Verrillo E,
Barnerias C,
Amaddeo A,
Gitiaux C,
Thierry B,
Desguerre I,
Cutrera R,
Fauroux B</span><br />
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
2017 Nov;21(6):842-851.
Epub 2017 Jul 21
doi: 10.1016/j.ejpn.2017.07.010.
<span class="bold">PMID: </span><a href="/pubmed/28755803" target="_blank">28755803</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 class="nl"><a target="_blank" href="/pubmed/17077146">Implications of the quaternary twist allosteric model for the physiology and pathology of nicotinic acetylcholine receptors.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Taly A,
Corringer PJ,
Grutter T,
Prado de Carvalho L,
Karplus M,
Changeux JP</span><br />
<span class="medgenPMjournal">Proc Natl Acad Sci U S A</span>
2006 Nov 7;103(45):16965-70.
Epub 2006 Oct 31
doi: 10.1073/pnas.0607477103.
<span class="bold">PMID: </span><a href="/pubmed/17077146" target="_blank">17077146</a><a href="/pmc/articles/PMC1629088" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20myasthenic%20syndrome%2015%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 (25)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/30808424">Congenital myasthenic syndromes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Finsterer J</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2019 Feb 26;14(1):57.
doi: 10.1186/s13023-019-1025-5.
<span class="bold">PMID: </span><a href="/pubmed/30808424" target="_blank">30808424</a><a href="/pmc/articles/PMC6390566" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4015596%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (12)</a></li>
<li><a href="/gtr/tests?term=C4015596%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (16)</a></li>
<li><a href="/gtr/tests?term=C4015596%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4015596%5bDISCUI%5d" target="_blank">See all (18)</a></total></li>
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