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<meta name="keywords" content="C4225377, cms17, congenital myasthenic syndrome 17, congenital myasthenic syndrome caused by mutation in lrp4, congenital myasthenic syndrome type 17, disease or syndrome, lrp4, lrp4 congenital myasthenic syndrome, myasthenic syndrome, congenital, 17, myasthenic syndrome, congenital, type 17, 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="Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the LRP4 gene." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=895078
|
||
ConceptID=C4225377
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Congenital myasthenic syndrome 17<span class="h1sub">(CMS17)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>895078</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:">C4225377</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>CMS17; MYASTHENIC SYNDROME, CONGENITAL, 17</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="LRP4 - ID: 4038 - NCBI Gene" href="/gene/4038" class="medgenPMinfo">LRP4</a> (11p11.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0014578" target="_blank">MONDO:0014578</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/616304" target="_blank">616304</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">Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the LRP4 gene. [from <a title="Monarch Initiative" href="https://monarchinitiative.org/" class="defSource" target="_blank">MONDO</a>]</div>
|
||
</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_65429"><div><strong>Feeding difficulties</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65429</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.">C0232466</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65429">Feature record</a> | <a href="/medgen?term=%22Feeding%20difficulties%22%5BClinical%20Features%5D%20OR%2065429%5Buid%5D">Search on this feature</a></div></div>
|
||
<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) 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_195967"><div><strong>Hyporeflexia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>195967</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.">C0700078</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduction of neurologic reflexes such as the knee-jerk reaction.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/195967">Feature record</a> | <a href="/medgen?term=%22Hyporeflexia%22%5BClinical%20Features%5D%20OR%20195967%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57735"><div><strong>Muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57735</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.">C0151786</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced strength of muscles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57735">Feature record</a> | <a href="/medgen?term=%22Muscle%20weakness%22%5BClinical%20Features%5D%20OR%2057735%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_344274"><div><strong>Type 1 muscle fiber predominance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344274</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.">C1854387</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/344274">Feature record</a> | <a href="/medgen?term=%22Type%201%20muscle%20fiber%20predominance%22%5BClinical%20Features%5D%20OR%20344274%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_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 the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65429" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Feeding difficulties</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_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_57735" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscle weakness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_344274" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Type 1 muscle fiber predominance</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_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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_195967" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyporeflexia</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/38688232">Juvenile Myasthenia Gravis in North Texas: Clinical Features, Treatment Response, and Outcomes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lu M,
|
||
Reisch J,
|
||
Iannaccone S,
|
||
Batley K</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2024 Jul;156:10-14.
|
||
Epub 2024 Mar 24
|
||
doi: 10.1016/j.pediatrneurol.2024.03.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38688232" target="_blank">38688232</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=(congenital%20myasthenic%20syndrome%2017)%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 (2)</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/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/34602496">A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Megarbane A,
|
||
Bizzari S,
|
||
Deepthi A,
|
||
Sabbagh S,
|
||
Mansour H,
|
||
Chouery E,
|
||
Hmaimess G,
|
||
Jabbour R,
|
||
Mehawej C,
|
||
Alame S,
|
||
Hani A,
|
||
Hasbini D,
|
||
Ghanem I,
|
||
Koussa S,
|
||
Al-Ali MT,
|
||
Obeid M,
|
||
Talea DB,
|
||
Lefranc G,
|
||
Lévy N,
|
||
Leturcq F,
|
||
El Hayek S,
|
||
Delague V,
|
||
Urtizberea JA</span><br />
|
||
<span class="medgenPMjournal">J Neuromuscul Dis</span>
|
||
2022;9(1):193-210.
|
||
doi: 10.3233/JND-210652.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34602496" target="_blank">34602496</a><a href="/pmc/articles/PMC8842757" target="_blank" class="PubMedFree">Free PMC Article</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/18031562">Primary periodic paralyses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Finsterer J</span><br />
|
||
<span class="medgenPMjournal">Acta Neurol Scand</span>
|
||
2008 Mar;117(3):145-58.
|
||
Epub 2007 Nov 20
|
||
doi: 10.1111/j.1600-0404.2007.00963.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18031562" target="_blank">18031562</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15367858">Congenital myasthenic syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hantaï D,
|
||
Richard P,
|
||
Koenig J,
|
||
Eymard B</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Neurol</span>
|
||
2004 Oct;17(5):539-51.
|
||
doi: 10.1097/00019052-200410000-00004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15367858" target="_blank">15367858</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20myasthenic%20syndrome%2017%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 (28)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<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/37186601">The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Allen NM,
|
||
O'Rahelly M,
|
||
Eymard B,
|
||
Chouchane M,
|
||
Hahn A,
|
||
Kearns G,
|
||
Kim DS,
|
||
Byun SY,
|
||
Nguyen CE,
|
||
Schara-Schmidt U,
|
||
Kölbel H,
|
||
Marina AD,
|
||
Schneider-Gold C,
|
||
Roefke K,
|
||
Thieme A,
|
||
Van den Bergh P,
|
||
Avalos G,
|
||
Álvarez-Velasco R,
|
||
Natera-de Benito D,
|
||
Cheng MHM,
|
||
Chan WK,
|
||
Wan HS,
|
||
Thomas MA,
|
||
Borch L,
|
||
Lauzon J,
|
||
Kornblum C,
|
||
Reimann J,
|
||
Mueller A,
|
||
Kuntzer T,
|
||
Norwood F,
|
||
Ramdas S,
|
||
Jacobson LW,
|
||
Jie X,
|
||
Fernandez-Garcia MA,
|
||
Wraige E,
|
||
Lim M,
|
||
Lin JP,
|
||
Claeys KG,
|
||
Aktas S,
|
||
Oskoui M,
|
||
Hacohen Y,
|
||
Masud A,
|
||
Leite MI,
|
||
Palace J,
|
||
De Vivo D,
|
||
Vincent A,
|
||
Jungbluth H</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2023 Oct 3;146(10):4233-4246.
|
||
doi: 10.1093/brain/awad153.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37186601" target="_blank">37186601</a><a href="/pmc/articles/PMC10545502" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34602496">A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Megarbane A,
|
||
Bizzari S,
|
||
Deepthi A,
|
||
Sabbagh S,
|
||
Mansour H,
|
||
Chouery E,
|
||
Hmaimess G,
|
||
Jabbour R,
|
||
Mehawej C,
|
||
Alame S,
|
||
Hani A,
|
||
Hasbini D,
|
||
Ghanem I,
|
||
Koussa S,
|
||
Al-Ali MT,
|
||
Obeid M,
|
||
Talea DB,
|
||
Lefranc G,
|
||
Lévy N,
|
||
Leturcq F,
|
||
El Hayek S,
|
||
Delague V,
|
||
Urtizberea JA</span><br />
|
||
<span class="medgenPMjournal">J Neuromuscul Dis</span>
|
||
2022;9(1):193-210.
|
||
doi: 10.3233/JND-210652.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34602496" target="_blank">34602496</a><a href="/pmc/articles/PMC8842757" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18031562">Primary periodic paralyses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Finsterer J</span><br />
|
||
<span class="medgenPMjournal">Acta Neurol Scand</span>
|
||
2008 Mar;117(3):145-58.
|
||
Epub 2007 Nov 20
|
||
doi: 10.1111/j.1600-0404.2007.00963.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18031562" target="_blank">18031562</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15367858">Congenital myasthenic syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hantaï D,
|
||
Richard P,
|
||
Koenig J,
|
||
Eymard B</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Neurol</span>
|
||
2004 Oct;17(5):539-51.
|
||
doi: 10.1097/00019052-200410000-00004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15367858" target="_blank">15367858</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20myasthenic%20syndrome%2017%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 (34)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33554690">Development of neovascular glaucoma after intraocular surgery in Pierson syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Magliyah MS,
|
||
Alsulaiman SM</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
2021 Jun;42(3):317-319.
|
||
Epub 2021 Feb 8
|
||
doi: 10.1080/13816810.2021.1881982.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33554690" target="_blank">33554690</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27397848">Rapsyn congenital myasthenic syndrome worsened by fluoxetine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Visser AC,
|
||
Laughlin RS,
|
||
Litchy WJ,
|
||
Benarroch EE,
|
||
Milone M</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2017 Jan;55(1):131-135.
|
||
Epub 2016 Aug 10
|
||
doi: 10.1002/mus.25244.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27397848" target="_blank">27397848</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 />
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<span class="medgenPMjournal">Pediatr Neurol</span>
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2016 Jan;54:85-7.
|
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|
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<span class="bold">PMID: </span><a href="/pubmed/26552645" target="_blank">26552645</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25515947">Ephedrine for myasthenia gravis, neonatal myasthenia and the congenital myasthenic syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vrinten C,
|
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van der Zwaag AM,
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Weinreich SS,
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Scholten RJ,
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2014 Dec 17;2014(12):CD010028.
|
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doi: 10.1002/14651858.CD010028.pub2.
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<span class="bold">PMID: </span><a href="/pubmed/25515947" target="_blank">25515947</a><a href="/pmc/articles/PMC7387729" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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||
<div class="nl"><a target="_blank" href="/pubmed/19949040">Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Mihaylova V,
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Salih MA,
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Mukhtar MM,
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Abuzeid HA,
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El-Sadig SM,
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von der Hagen M,
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Huebner A,
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Nürnberg G,
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Abicht A,
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Müller JS,
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<span class="medgenPMjournal">Neurology</span>
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2009 Dec 1;73(22):1926-8.
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20myasthenic%20syndrome%2017%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 (8)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/33756069">Congenital myasthenic syndrome in China: genetic and myopathological characterization.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Zhao Y,
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Li Y,
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Bian Y,
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Yao S,
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Liu P,
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Yu M,
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Zhang W,
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Wang Z,
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Yuan Y</span><br />
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<span class="medgenPMjournal">Ann Clin Transl Neurol</span>
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2021 Apr;8(4):898-907.
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Epub 2021 Mar 23
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doi: 10.1002/acn3.51346.
|
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<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>
|
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<div class="nl"><a target="_blank" href="/pubmed/33231694">Posterior Segment Characterization in Children With Pierson Syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">AlTaisan A,
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Magliyah M,
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Abouammoh MA,
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Taskintuna I,
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Alzahrani Y,
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Chang E,
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Alsulaiman SM</span><br />
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2020 Nov 1;51(11):618-627.
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<span class="bold">PMID: </span><a href="/pubmed/33231694" target="_blank">33231694</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/30653958">Incidence and Ocular Features of Pediatric Myasthenias.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mansukhani SA,
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Bothun ED,
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Diehl NN,
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Mohney BG</span><br />
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<span class="medgenPMjournal">Am J Ophthalmol</span>
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2019 Apr;200:242-249.
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|
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||
<div class="nl"><a target="_blank" href="/pubmed/23108489">Pregnancy in congenital myasthenic syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Servais L,
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Baudoin H,
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Zehrouni K,
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Richard P,
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Sternberg D,
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Fournier E,
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2013 Mar;260(3):815-9.
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<span class="bold">PMID: </span><a href="/pubmed/23108489" target="_blank">23108489</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/15367858">Congenital myasthenic syndromes.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hantaï D,
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Richard P,
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Koenig J,
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<span class="medgenPMjournal">Curr Opin Neurol</span>
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2004 Oct;17(5):539-51.
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20myasthenic%20syndrome%2017%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 (17)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38688232">Juvenile Myasthenia Gravis in North Texas: Clinical Features, Treatment Response, and Outcomes.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lu M,
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Reisch J,
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Iannaccone S,
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Batley K</span><br />
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||
<span class="bold">PMID: </span><a href="/pubmed/38688232" target="_blank">38688232</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/33231694">Posterior Segment Characterization in Children With Pierson Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">AlTaisan A,
|
||
Magliyah M,
|
||
Abouammoh MA,
|
||
Taskintuna I,
|
||
Alzahrani Y,
|
||
Chang E,
|
||
Alsulaiman SM</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Surg Lasers Imaging Retina</span>
|
||
2020 Nov 1;51(11):618-627.
|
||
doi: 10.3928/23258160-20201104-03.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33231694" target="_blank">33231694</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,
|
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Lu Q,
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Chen Y</span><br />
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<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
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2018 Apr;97(17):e0347.
|
||
doi: 10.1097/MD.0000000000010347.
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<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/25515947">Ephedrine for myasthenia gravis, neonatal myasthenia and the congenital myasthenic syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vrinten C,
|
||
van der Zwaag AM,
|
||
Weinreich SS,
|
||
Scholten RJ,
|
||
Verschuuren JJ</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2014 Dec 17;2014(12):CD010028.
|
||
doi: 10.1002/14651858.CD010028.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25515947" target="_blank">25515947</a><a href="/pmc/articles/PMC7387729" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20myasthenic%20syndrome%2017%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 (14)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/25515947">Ephedrine for myasthenia gravis, neonatal myasthenia and the congenital myasthenic syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vrinten C,
|
||
van der Zwaag AM,
|
||
Weinreich SS,
|
||
Scholten RJ,
|
||
Verschuuren JJ</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2014 Dec 17;2014(12):CD010028.
|
||
doi: 10.1002/14651858.CD010028.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25515947" target="_blank">25515947</a><a href="/pmc/articles/PMC7387729" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20myasthenic%20syndrome%2017%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 (1)</a></div></div>
|
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</div>
|
||
</div></div></div></div></div></div></div>
|
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4225377%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (8)</a></li>
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||
<li><a href="/gtr/tests?term=C4225377%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (10)</a></li>
|
||
<li><a href="/gtr/tests?term=C4225377%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4225377%5bDISCUI%5d" target="_blank">See all (13)</a></total></li>
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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=616304" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Congenital%20myasthenic%20syndrome%2017" 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%2017)%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 mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=604270" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=4038[geneid]" target="_blank">View LRP4 variations in ClinVar</a></li><li><a href="/nuccore/297307102" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=616304" 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_17" 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%2017" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/16080/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<div class="portlet_title">
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<h3>Reviews</h3>
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<div class="portlet_content">
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<ul>
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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/clinical?term=Congenital%20myasthenic%20syndrome%2017" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Congenital%20myasthenic%20syndrome%2017%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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