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<meta name="keywords" content="C3808739, agrn, agrn congenital myasthenic syndrome, cms8, cmsppd, congenital myasthenic syndrome 8, congenital myasthenic syndrome 8 with pre- and postsynaptic defects, congenital myasthenic syndrome caused by mutation in agrn, congenital myasthenic syndrome due to agrin deficiency, congenital myasthenic syndrome type 8, disease or syndrome, myasthenic syndrome, congenital, 8, myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, myasthenic syndrome, congenital, due to agrin deficiency, myasthenic syndrome, congenital, type 8, myasthenic syndrome, congenital, with pre- and postsynaptic defects, 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 syndromes are genetic disorders of the neuromuscular junction (NMJ) that are classified by the site of the transmission defect: presynaptic, synaptic, and postsynaptic. CMS8 is an autosomal recessive disorder characterized by prominent defects of both the pre- and postsynaptic regions. Affected individuals have onset of muscle weakness in early childhood; the severity of the weakness and muscles affected is variable (summary by Maselli et al., 2012). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=815069
|
||
ConceptID=C3808739
|
||
-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Congenital myasthenic syndrome 8<span class="h1sub">(CMSPPD; CMS8)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815069</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:">C3808739</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>Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects; MYASTHENIC SYNDROME, CONGENITAL, DUE TO AGRIN DEFICIENCY</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="AGRN - ID: 375790 - NCBI Gene" href="/gene/375790" class="medgenPMinfo">AGRN</a> (1p36.33)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0014052" target="_blank">MONDO:0014052</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/615120" target="_blank">615120</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>
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<div class="portlet mgSection" id="ID_100">
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<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 syndromes are genetic disorders of the neuromuscular junction (NMJ) that are classified by the site of the transmission defect: presynaptic, synaptic, and postsynaptic. CMS8 is an autosomal recessive disorder characterized by prominent defects of both the pre- and postsynaptic regions. Affected individuals have onset of muscle weakness in early childhood; the severity of the weakness and muscles affected is variable (summary by Maselli et al., 2012). 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>
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||
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<div class="portlet mgSection" id="ID_117">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />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. <a target="_blank" href="https://medlineplus.gov/genetics/condition/congenital-myasthenic-syndrome">https://medlineplus.gov/genetics/condition/congenital-myasthenic-syndrome</a></div></div>
|
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</div>
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||
|
||
<div class="portlet mgSection" id="ID_102">
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<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_373253"><div><strong>Easy fatigability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373253</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.">C1837098</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased susceptibility to fatigue.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/373253">Feature record</a> | <a href="/medgen?term=%22Easy%20fatigability%22%5BClinical%20Features%5D%20OR%20373253%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_113169"><div><strong>Proximal muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>113169</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.">C0221629</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A lack of strength of the proximal muscles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/113169">Feature record</a> | <a href="/medgen?term=%22Proximal%20muscle%20weakness%22%5BClinical%20Features%5D%20OR%20113169%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_96528"><div><strong>Narrow chest</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96528</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.">C0426790</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96528">Feature record</a> | <a href="/medgen?term=%22Narrow%20chest%22%5BClinical%20Features%5D%20OR%2096528%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98103"><div><strong>Weakness of facial musculature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98103</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.">C0427055</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98103">Feature record</a> | <a href="/medgen?term=%22Weakness%20of%20facial%20musculature%22%5BClinical%20Features%5D%20OR%2098103%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_108251"><div><strong>Difficulty running</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>108251</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.">C0560346</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced ability to run.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/108251">Feature record</a> | <a href="/medgen?term=%22Difficulty%20running%22%5BClinical%20Features%5D%20OR%20108251%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) 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_11197"><div><strong>Respiratory insufficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11197</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.">C0035229</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Impairment of gas exchange within the lungs secondary to a disease process, neoplasm, or trauma, possibly resulting in hypoxia, hypercarbia, or both, but not requiring intubation or mechanical ventilation. Patients are normally managed with pharmaceutical therapy, supplemental oxygen, or both.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11197">Feature record</a> | <a href="/medgen?term=%22Respiratory%20insufficiency%22%5BClinical%20Features%5D%20OR%2011197%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66814"><div><strong>High palate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66814</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.">C0240635</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66814">Feature record</a> | <a href="/medgen?term=%22High%20palate%22%5BClinical%20Features%5D%20OR%2066814%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) 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(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66814" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">High palate</a></span></li></ul></li><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 musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_108251" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Difficulty running</a></span></li><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_96528" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Narrow chest</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_113169" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proximal muscle weakness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98103" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Weakness of facial musculature</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_373253" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Easy fatigability</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11197" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Respiratory insufficiency</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/36094697">Genetic and clinical evaluation of congenital myasthenic syndromes with long-term follow-up: experience of a tertiary center in Turkey.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yildiz EP,
|
||
Kilic MA,
|
||
Yalcin EU,
|
||
Kurekci F,
|
||
Avci R,
|
||
Hacıfazlıoğlu NE,
|
||
Ceylaner S,
|
||
Gezdirici A,
|
||
Çalışkan M</span><br />
|
||
<span class="medgenPMjournal">Acta Neurol Belg</span>
|
||
2023 Oct;123(5):1841-1847.
|
||
Epub 2022 Sep 12
|
||
doi: 10.1007/s13760-022-02090-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36094697" target="_blank">36094697</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35065041">Advances and ongoing research in the treatment of autoimmune neuromuscular junction disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Verschuuren JJ,
|
||
Palace J,
|
||
Murai H,
|
||
Tannemaat MR,
|
||
Kaminski HJ,
|
||
Bril V</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2022 Feb;21(2):189-202.
|
||
doi: 10.1016/S1474-4422(21)00463-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35065041" target="_blank">35065041</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%208)%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 (6)</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/37721175">Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Polavarapu K,
|
||
Sunitha B,
|
||
Töpf A,
|
||
Preethish-Kumar V,
|
||
Thompson R,
|
||
Vengalil S,
|
||
Nashi S,
|
||
Bardhan M,
|
||
Sanka SB,
|
||
Huddar A,
|
||
Unnikrishnan G,
|
||
Arunachal G,
|
||
Girija MS,
|
||
Porter A,
|
||
Azuma Y,
|
||
Lorenzoni PJ,
|
||
Baskar D,
|
||
Anjanappa RM,
|
||
Keertipriya M,
|
||
Padmanabh H,
|
||
Harikrishna GV,
|
||
Laurie S,
|
||
Matalonga L,
|
||
Horvath R,
|
||
Nalini A,
|
||
Lochmüller H</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2024 Jan 4;147(1):281-296.
|
||
doi: 10.1093/brain/awad315.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37721175" target="_blank">37721175</a><a href="/pmc/articles/PMC10766255" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34749429">Congenital myasthenic syndrome: Correlation between clinical features and molecular diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Estephan EP,
|
||
Zambon AA,
|
||
Thompson R,
|
||
Polavarapu K,
|
||
Jomaa D,
|
||
Töpf A,
|
||
Helito PVP,
|
||
Heise CO,
|
||
Moreno CAM,
|
||
Silva AMS,
|
||
Kouyoumdjian JA,
|
||
Morita MDP,
|
||
Reed UC,
|
||
Lochmüller H,
|
||
Zanoteli E</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2022 Mar;29(3):833-842.
|
||
Epub 2021 Nov 17
|
||
doi: 10.1111/ene.15173.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34749429" target="_blank">34749429</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33471587">Congenital Myasthenic Syndrome From a Single Center: Phenotypic and Genotypic features.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Prior DE,
|
||
Ghosh PS</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
2021 Jul;36(8):610-617.
|
||
Epub 2021 Jan 20
|
||
doi: 10.1177/0883073820987755.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33471587" target="_blank">33471587</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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20myasthenic%20syndrome%208%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 (46)</a></div><h3 class="subhead">Diagnosis</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/37562891">Myasthenia gravis and congenital myasthenic syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gilhus NE</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2023;195:635-652.
|
||
doi: 10.1016/B978-0-323-98818-6.00010-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37562891" target="_blank">37562891</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34749429">Congenital myasthenic syndrome: Correlation between clinical features and molecular diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Estephan EP,
|
||
Zambon AA,
|
||
Thompson R,
|
||
Polavarapu K,
|
||
Jomaa D,
|
||
Töpf A,
|
||
Helito PVP,
|
||
Heise CO,
|
||
Moreno CAM,
|
||
Silva AMS,
|
||
Kouyoumdjian JA,
|
||
Morita MDP,
|
||
Reed UC,
|
||
Lochmüller H,
|
||
Zanoteli E</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2022 Mar;29(3):833-842.
|
||
Epub 2021 Nov 17
|
||
doi: 10.1111/ene.15173.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34749429" target="_blank">34749429</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/29892917">Congenital Myasthenic Syndromes in 2018.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Engel AG</span><br />
|
||
<span class="medgenPMjournal">Curr Neurol Neurosci Rep</span>
|
||
2018 Jun 12;18(8):46.
|
||
doi: 10.1007/s11910-018-0852-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29892917" target="_blank">29892917</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20myasthenic%20syndrome%208%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 (53)</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/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/29475025">Protein-anchoring therapy to target extracellular matrix proteins to their physiological destinations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ito M,
|
||
Ohno K</span><br />
|
||
<span class="medgenPMjournal">Matrix Biol</span>
|
||
2018 Aug;68-69:628-636.
|
||
Epub 2018 Feb 20
|
||
doi: 10.1016/j.matbio.2018.02.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29475025" target="_blank">29475025</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26782015">Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Natera-de Benito D,
|
||
Bestué M,
|
||
Vilchez JJ,
|
||
Evangelista T,
|
||
Töpf A,
|
||
García-Ribes A,
|
||
Trujillo-Tiebas MJ,
|
||
García-Hoyos M,
|
||
Ortez C,
|
||
Camacho A,
|
||
Jiménez E,
|
||
Dusl M,
|
||
Abicht A,
|
||
Lochmüller H,
|
||
Colomer J,
|
||
Nascimento A</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2016 Feb;26(2):153-9.
|
||
Epub 2015 Nov 23
|
||
doi: 10.1016/j.nmd.2015.10.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26782015" target="_blank">26782015</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20myasthenic%20syndrome%208%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 (21)</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/37562891">Myasthenia gravis and congenital myasthenic syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gilhus NE</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2023;195:635-652.
|
||
doi: 10.1016/B978-0-323-98818-6.00010-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37562891" target="_blank">37562891</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35065041">Advances and ongoing research in the treatment of autoimmune neuromuscular junction disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Verschuuren JJ,
|
||
Palace J,
|
||
Murai H,
|
||
Tannemaat MR,
|
||
Kaminski HJ,
|
||
Bril V</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2022 Feb;21(2):189-202.
|
||
doi: 10.1016/S1474-4422(21)00463-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35065041" target="_blank">35065041</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33756069">Congenital myasthenic syndrome in China: genetic and myopathological characterization.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhao Y,
|
||
Li Y,
|
||
Bian Y,
|
||
Yao S,
|
||
Liu P,
|
||
Yu M,
|
||
Zhang W,
|
||
Wang Z,
|
||
Yuan Y</span><br />
|
||
<span class="medgenPMjournal">Ann Clin Transl Neurol</span>
|
||
2021 Apr;8(4):898-907.
|
||
Epub 2021 Mar 23
|
||
doi: 10.1002/acn3.51346.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33756069" target="_blank">33756069</a><a href="/pmc/articles/PMC8045908" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29395675">Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Durmus H,
|
||
Shen XM,
|
||
Serdaroglu-Oflazer P,
|
||
Kara B,
|
||
Parman-Gulsen Y,
|
||
Ozdemir C,
|
||
Brengman J,
|
||
Deymeer F,
|
||
Engel AG</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2018 Apr;28(4):315-322.
|
||
Epub 2017 Nov 28
|
||
doi: 10.1016/j.nmd.2017.11.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29395675" target="_blank">29395675</a><a href="/pmc/articles/PMC5924610" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20myasthenic%20syndrome%208%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 (30)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39024975">A class of chemical compounds enhances clustering of muscle nicotinic acetylcholine receptor in cultured myogenic cells.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miyairi Y,
|
||
Ohkawara B,
|
||
Sato A,
|
||
Sawada R,
|
||
Ishii H,
|
||
Tomita H,
|
||
Inoue T,
|
||
Nakashima H,
|
||
Ito M,
|
||
Masuda A,
|
||
Hosono Y,
|
||
Imagama S,
|
||
Ohno K</span><br />
|
||
<span class="medgenPMjournal">Biochem Biophys Res Commun</span>
|
||
2024 Oct 30;731:150400.
|
||
Epub 2024 Jul 14
|
||
doi: 10.1016/j.bbrc.2024.150400.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39024975" target="_blank">39024975</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38531369">VAMP1-Related Congenital Myasthenic Syndrome: A Case Report and Literature Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yıldırım M,
|
||
Yarenci GB,
|
||
Genç MB,
|
||
Uçar Çİ,
|
||
Bayav S,
|
||
Tekin MN,
|
||
Bektaş Ö,
|
||
Teber S</span><br />
|
||
<span class="medgenPMjournal">Neuropediatrics</span>
|
||
2024 Jun;55(3):200-204.
|
||
Epub 2024 Mar 26
|
||
doi: 10.1055/s-0044-1782675.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38531369" target="_blank">38531369</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33756069">Congenital myasthenic syndrome in China: genetic and myopathological characterization.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhao Y,
|
||
Li Y,
|
||
Bian Y,
|
||
Yao S,
|
||
Liu P,
|
||
Yu M,
|
||
Zhang W,
|
||
Wang Z,
|
||
Yuan Y</span><br />
|
||
<span class="medgenPMjournal">Ann Clin Transl Neurol</span>
|
||
2021 Apr;8(4):898-907.
|
||
Epub 2021 Mar 23
|
||
doi: 10.1002/acn3.51346.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33756069" target="_blank">33756069</a><a href="/pmc/articles/PMC8045908" 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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20myasthenic%20syndrome%208%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 (26)</a></div></div>
|
||
</div>
|
||
|
||
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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/33325393">Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Desaphy JF,
|
||
Altamura C,
|
||
Vicart S,
|
||
Fontaine B</span><br />
|
||
<span class="medgenPMjournal">J Neuromuscul Dis</span>
|
||
2021;8(3):357-381.
|
||
doi: 10.3233/JND-200582.
|
||
<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 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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20myasthenic%20syndrome%208%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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<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 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>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3808739%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (15)</a></li>
|
||
<li><a href="/gtr/tests?term=C3808739%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C3808739%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (23)</a></li>
|
||
<li><a href="/gtr/tests?term=C3808739%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (3)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3808739%5bDISCUI%5d" target="_blank">See all (25)</a></total></li>
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</ul></div>
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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/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=615120" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Congenital%20myasthenic%20syndrome%208" target="_blank">ClinicalTrials.gov</a></li></ul></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=(congenital%20myasthenic%20syndrome%208)%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></ul></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=103320" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=375790[geneid]" target="_blank">View AGRN variations in ClinVar</a></li><li><a href="/nuccore/283837914" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=615120" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/myasthenic_syndrome_congenital_8" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Congenital%20myasthenic%20syndrome%208" 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/15908/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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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>
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<a href="/pubmed?term=Congenital%20myasthenic%20syndrome%208%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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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=815069" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3808739[DISCUI]" ref="log$=recordlinks">GTR</a>
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=815069" ref="log$=recordlinks">OMIM</a>
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<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=815069" ref="log$=recordlinks">PubMed (GeneReviews)</a>
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<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=815069" ref="log$=recordlinks">PubMed (OMIM)</a>
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