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<meta name="keywords" content="C0393929, chat, chat congenital myasthenic syndrome, chat-related congenital myasthenic syndrome, cms ia2, cms ia2, formerly, cms w/episodic apnea, cms-ea, cms1a, cms1a2, cms1a2, formerly, cms6, cmsea, congenital myasthenic syndrome 6, congenital myasthenic syndrome 6, presynaptic, congenital myasthenic syndrome caused by mutation in chat, congenital myasthenic syndrome type 1a, congenital myasthenic syndrome type 6, congenital myasthenic syndrome type ia, congenital myasthenic syndrome type ia2, congenital myasthenic syndrome type ia2, formerly, congenital myasthenic syndrome with episodic apnea, congenital presynaptic myasthenic syndrome associated with episodic apnea, disease or syndrome, familial infantile myasthenia, familial infantile myasthenia gravis 2, fim, fim - familial infantile myasthenia, fim, formerly, fimg2, fimg2 (formerly), fimg2, formerly, myasthenia familial infantile, myasthenia gravis familial infantile 2 (formerly), myasthenia gravis, familial infantile, 2, myasthenia gravis, familial infantile, 2, formerly, myasthenia, familial infantile, myasthenia, familial infantile, formerly, myasthenic syndrome congenital associated with episodic apnea, myasthenic syndrome, congenital, 6, presynaptic, myasthenic syndrome, congenital, associated with episodic apnea, myasthenic syndrome, presynaptic, congenital, associated with episodic apnea, presynaptic congenital myasthenic syndrome 6, 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 (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. CMS6 is an autosomal recessive CMS resulting from a presynaptic defect; patients have onset of symptoms in infancy or early childhood and tend to have sudden apneic episodes. Treatment with acetylcholinesterase inhibitors may be beneficial (summary by Engel et al., 2015). 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=140751
|
||
ConceptID=C0393929
|
||
-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Familial infantile myasthenia<span class="h1sub">(CMS6)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140751</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:">C0393929</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>CHAT-Related Congenital Myasthenic Syndrome; CMS6; Congenital myasthenic syndrome 6; Congenital myasthenic syndrome with episodic apnea; FIMG2 (formerly); Myasthenic syndrome congenital associated with episodic apnea; MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; MYASTHENIC SYNDROME, PRESYNAPTIC, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Familial infantile myasthenia (230670003); FIM - Familial infantile myasthenia (230670003)</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="CHAT - ID: 1103 - NCBI Gene" href="/gene/1103" class="medgenPMinfo">CHAT</a> (10q11.23)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0009689" target="_blank">MONDO:0009689</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/254210" target="_blank">254210</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 (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. CMS6 is an autosomal recessive CMS resulting from a presynaptic defect; patients have onset of symptoms in infancy or early childhood and tend to have sudden apneic episodes. Treatment with acetylcholinesterase inhibitors may be beneficial (summary by Engel et al., 2015). 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>
|
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</div>
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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 />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.<br /><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). <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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|
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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>
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||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_41440"><div><strong>Dysphagia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41440</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.">C0011168</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Difficulty in swallowing.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/41440">Feature record</a> | <a href="/medgen?term=%22Dysphagia%22%5BClinical%20Features%5D%20OR%2041440%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_324693"><div><strong>Poor suck</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324693</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.">C1837142</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324693">Feature record</a> | <a href="/medgen?term=%22Poor%20suck%22%5BClinical%20Features%5D%20OR%20324693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_451076"><div><strong>Fatigable weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>451076</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0947912</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/451076">Feature record</a> | <a href="/medgen?term=%22Fatigable%20weakness%22%5BClinical%20Features%5D%20OR%20451076%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_343014"><div><strong>Generalized hypotonia due to defect at the neuromuscular junction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343014</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.">C1853950</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343014">Feature record</a> | <a href="/medgen?term=%22Generalized%20hypotonia%20due%20to%20defect%20at%20the%20neuromuscular%20junction%22%5BClinical%20Features%5D%20OR%20343014%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_381306"><div><strong>Decreased miniature endplate potentials</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381306</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.">C1853952</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal reduction in the amplitude of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/381306">Feature record</a> | <a href="/medgen?term=%22Decreased%20miniature%20endplate%20potentials%22%5BClinical%20Features%5D%20OR%20381306%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_898626"><div><strong>Bulbar palsy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>898626</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.">C4082299</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/898626">Feature record</a> | <a href="/medgen?term=%22Bulbar%20palsy%22%5BClinical%20Features%5D%20OR%20898626%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_355249"><div><strong>Type 2 muscle fiber atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355249</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.">C1864580</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atrophy (wasting) affecting primary type 2 muscle fibers. This feature in general can only be observed on muscle biopsy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/355249">Feature record</a> | <a href="/medgen?term=%22Type%202%20muscle%20fiber%20atrophy%22%5BClinical%20Features%5D%20OR%20355249%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_1830310"><div><strong>Arthrogryposis multiplex congenita</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1830310</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.">C5779613</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Multiple congenital contractures in different body areas.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1830310">Feature record</a> | <a href="/medgen?term=%22Arthrogryposis%20multiplex%20congenita%22%5BClinical%20Features%5D%20OR%201830310%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_96907"><div><strong>Respiratory distress</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96907</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.">C0476273</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96907">Feature record</a> | <a href="/medgen?term=%22Respiratory%20distress%22%5BClinical%20Features%5D%20OR%2096907%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_812792"><div><strong>Apneic episodes precipitated by illness, fatigue, stress</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>812792</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.">C3806462</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Recurrent episodes of apnea that are precipitated by factors such as illness, fatigue, or stress.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/812792">Feature record</a> | <a href="/medgen?term=%22Apneic%20episodes%20precipitated%20by%20illness%2C%20fatigue%2C%20stress%22%5BClinical%20Features%5D%20OR%20812792%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_812797"><div><strong>Respiratory insufficiency due to muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>812797</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.">C3806467</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/812797">Feature record</a> | <a href="/medgen?term=%22Respiratory%20insufficiency%20due%20to%20muscle%20weakness%22%5BClinical%20Features%5D%20OR%20812797%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_871194"><div><strong>Sudden episodic apnea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>871194</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.">C4025671</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Recurrent bouts of sudden, severe apnea that may be life-threatening.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/871194">Feature record</a> | <a href="/medgen?term=%22Sudden%20episodic%20apnea%22%5BClinical%20Features%5D%20OR%20871194%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1055518"><div><strong>Anti-neuromuscular Junction acetylcholine receptor antibody positivity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1055518</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN378840</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of autoantibodies (immunoglobulins) in the blood circulation that react against neuromuscular junction acetylcholine receptors.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1055518">Feature record</a> | <a href="/medgen?term=%22Anti-neuromuscular%20Junction%20acetylcholine%20receptor%20antibody%20positivity%22%5BClinical%20Features%5D%20OR%201055518%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65892"><div><strong>Weak cry</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65892</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.">C0234860</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65892">Feature record</a> | <a href="/medgen?term=%22Weak%20cry%22%5BClinical%20Features%5D%20OR%2065892%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="divPopper rprt" id="clin_21337"><div><strong>Strabismus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21337</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.">C0038379</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21337">Feature record</a> | <a href="/medgen?term=%22Strabismus%22%5BClinical%20Features%5D%20OR%2021337%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_155551"><div><strong>Ophthalmoparesis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155551</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.">C0751401</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/155551">Feature record</a> | <a href="/medgen?term=%22Ophthalmoparesis%22%5BClinical%20Features%5D%20OR%20155551%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_41440" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysphagia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_324693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Poor suck</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_155551" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ophthalmoparesis</a></span></li><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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21337" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Strabismus</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1055518" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anti-neuromuscular Junction acetylcholine receptor antibody positivity</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1830310" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arthrogryposis multiplex congenita</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_355249" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Type 2 muscle fiber atrophy</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_898626" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bulbar palsy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_381306" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased miniature endplate potentials</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_451076" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fatigable weakness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_343014" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized hypotonia due to defect at the neuromuscular junction</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_812792" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Apneic episodes precipitated by illness, fatigue, stress</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_96907" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Respiratory distress</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_812797" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Respiratory insufficiency due to muscle weakness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_871194" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sudden episodic apnea</a></span></li></ul></li><li><span class="TLline">Abnormality of the voice</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65892" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Weak cry</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0751882[DISCUI]&test_type=Clinical" ref="ncbi_uid=155650">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1168/" ref="ncbi_uid=155650">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=155650" ref="ncbi_uid=155650">V</a></span></span><span class="TLline"><a href="/medgen/155650" ref="tree=GTR&ncbi_uid=155650&link_uid=155650" title="View MedGen record for 'Congenital myasthenic syndrome'">Congenital myasthenic syndrome</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN119608[DISCUI]&test_type=Clinical" ref="ncbi_uid=468519">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1168/" ref="ncbi_uid=468519">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=468519" ref="ncbi_uid=468519">V</a></span></span><span class="TLline"><a href="/medgen/468519" ref="tree=GTR&ncbi_uid=468519&link_uid=468519" title="View MedGen record for 'CHRNA1-Related Congenital Myasthenic Syndrome'">CHRNA1-Related Congenital Myasthenic Syndrome</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2931107[DISCUI]&test_type=Clinical" ref="ncbi_uid=419336">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1168/" ref="ncbi_uid=419336">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=419336" ref="ncbi_uid=419336">V</a></span></span><span class="TLline"><a href="/medgen/419336" ref="tree=GTR&ncbi_uid=419336&link_uid=419336" title="View MedGen record for 'Congenital myasthenic syndrome 1A'">Congenital myasthenic syndrome 1A</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4225405[DISCUI]&test_type=Clinical" ref="ncbi_uid=909200">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=909200" target="_blank" href="/omim/100690">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1168/" ref="ncbi_uid=909200">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=909200" ref="ncbi_uid=909200">V</a></span></span><span class="TLline"><a href="/medgen/909200" ref="tree=GTR&ncbi_uid=909200&link_uid=909200" title="View MedGen record for 'Myasthenic syndrome, congenital, 1B, fast-channel'">Myasthenic syndrome, congenital, 1B, fast-channel</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1864233[DISCUI]&test_type=Clinical" ref="ncbi_uid=400481">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=400481" target="_blank" href="/omim/603033">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1168/" ref="ncbi_uid=400481">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=400481" ref="ncbi_uid=400481">V</a></span></span><span class="TLline"><a href="/medgen/400481" ref="tree=GTR&ncbi_uid=400481&link_uid=400481" title="View MedGen record for 'Congenital myasthenic syndrome 5'">Congenital myasthenic syndrome 5</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1850792[DISCUI]&test_type=Clinical" ref="ncbi_uid=376880">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=376880" target="_blank" href="/omim/254300">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1168/" ref="ncbi_uid=376880">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=376880" ref="ncbi_uid=376880">V</a></span></span><span class="TLline"><a href="/medgen/376880" ref="tree=GTR&ncbi_uid=376880&link_uid=376880" title="View MedGen record for 'Congenital myasthenic syndrome 10'">Congenital myasthenic syndrome 10</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3280112[DISCUI]&test_type=Clinical" ref="ncbi_uid=481742">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=481742" target="_blank" href="/omim/603967">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1168/" ref="ncbi_uid=481742">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=481742" ref="ncbi_uid=481742">V</a></span></span><span class="TLline"><a href="/medgen/481742" ref="tree=GTR&ncbi_uid=481742&link_uid=481742" title="View MedGen record for 'Congenital myasthenic syndrome 16'">Congenital myasthenic syndrome 16</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1837091[DISCUI]&test_type=Clinical" ref="ncbi_uid=373251">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=373251" target="_blank" href="/omim/100725">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1168/" ref="ncbi_uid=373251">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=373251" ref="ncbi_uid=373251">V</a></span></span><span class="TLline"><a href="/medgen/373251" ref="tree=GTR&ncbi_uid=373251&link_uid=373251" title="View MedGen record for 'Congenital myasthenic syndrome 4C'">Congenital myasthenic syndrome 4C</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0393929[DISCUI]&test_type=Clinical" ref="ncbi_uid=140751">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=140751" target="_blank" href="/omim/118490">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1168/" ref="ncbi_uid=140751">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=140751" ref="ncbi_uid=140751">V</a></span></span><span class="TLline">Familial infantile myasthenia</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0751885[DISCUI]&test_type=Clinical" ref="ncbi_uid=199759">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1168/" ref="ncbi_uid=199759">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=199759" ref="ncbi_uid=199759">V</a></span></span><span class="TLline"><a href="/medgen/199759" ref="tree=GTR&ncbi_uid=199759&link_uid=199759" title="View MedGen record for 'Myasthenic syndrome, slow-channel congenital'">Myasthenic syndrome, slow-channel congenital</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/14319" ref="tree=MeSH" title="MedGen record for Congenital, Hereditary, and Neonatal Diseases and Abnormalities">Congenital, Hereditary, and Neonatal Diseases and Abnormalities</a></span><ul><li><span class="TLline"><a href="/medgen/181981" ref="tree=MeSH" title="MedGen record for Inborn genetic diseases">Inborn genetic diseases</a></span><ul><li><span class="TLline"><a href="/medgen/155650" ref="tree=MeSH" title="MedGen record for Congenital myasthenic syndrome">Congenital myasthenic syndrome</a></span><ul><li><span class="matched_ds">Familial infantile myasthenia</span></li></ul></li></ul></li></ul></li></ul></div></div></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/9813454">Evidence for genetic heterogeneity supports clinical differences in congenital myasthenic syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Menold MM,
|
||
Sadeh M,
|
||
Lennon F,
|
||
Blatt I,
|
||
Goldhammer Y,
|
||
Yamaoka LH,
|
||
Vance JM,
|
||
Pericak-Vance MA</span><br />
|
||
<span class="medgenPMjournal">Hum Hered</span>
|
||
1998 Nov-Dec;48(6):325-32.
|
||
doi: 10.1159/000022824.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9813454" target="_blank">9813454</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3977641">Familial infantile myasthenia gravis. Report of three cases with follow-up until adult life.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gieron MA,
|
||
Korthals JK</span><br />
|
||
<span class="medgenPMjournal">Arch Neurol</span>
|
||
1985 Feb;42(2):143-4.
|
||
doi: 10.1001/archneur.1985.04060020053015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3977641" target="_blank">3977641</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6243929">Familial infantile myasthenia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Robertson WC,
|
||
Chun RW,
|
||
Kornguth SE</span><br />
|
||
<span class="medgenPMjournal">Arch Neurol</span>
|
||
1980 Feb;37(2):117-9.
|
||
doi: 10.1001/archneur.1980.00500510075018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6243929" target="_blank">6243929</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20infantile%20myasthenia%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 (3)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/9813454">Evidence for genetic heterogeneity supports clinical differences in congenital myasthenic syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Menold MM,
|
||
Sadeh M,
|
||
Lennon F,
|
||
Blatt I,
|
||
Goldhammer Y,
|
||
Yamaoka LH,
|
||
Vance JM,
|
||
Pericak-Vance MA</span><br />
|
||
<span class="medgenPMjournal">Hum Hered</span>
|
||
1998 Nov-Dec;48(6):325-32.
|
||
doi: 10.1159/000022824.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9813454" target="_blank">9813454</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7954508">Familial infantile myasthenia: a neuromuscular cause of respiratory failure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zammarchi E,
|
||
Donati MA,
|
||
Masi S,
|
||
Sarti A,
|
||
Castelli S</span><br />
|
||
<span class="medgenPMjournal">Childs Nerv Syst</span>
|
||
1994 Jul;10(5):347-9.
|
||
doi: 10.1007/BF00335178.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7954508" target="_blank">7954508</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1743419">Familial infantile myasthenia: a diagnostic problem.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Matthes JW,
|
||
Kenna AP,
|
||
Fawcett PR</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
1991 Oct;33(10):924-9.
|
||
doi: 10.1111/j.1469-8749.1991.tb14805.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1743419" target="_blank">1743419</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6243929">Familial infantile myasthenia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Robertson WC,
|
||
Chun RW,
|
||
Kornguth SE</span><br />
|
||
<span class="medgenPMjournal">Arch Neurol</span>
|
||
1980 Feb;37(2):117-9.
|
||
doi: 10.1001/archneur.1980.00500510075018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6243929" target="_blank">6243929</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20infantile%20myasthenia%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 (4)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/7954508">Familial infantile myasthenia: a neuromuscular cause of respiratory failure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zammarchi E,
|
||
Donati MA,
|
||
Masi S,
|
||
Sarti A,
|
||
Castelli S</span><br />
|
||
<span class="medgenPMjournal">Childs Nerv Syst</span>
|
||
1994 Jul;10(5):347-9.
|
||
doi: 10.1007/BF00335178.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7954508" target="_blank">7954508</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3977641">Familial infantile myasthenia gravis. Report of three cases with follow-up until adult life.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gieron MA,
|
||
Korthals JK</span><br />
|
||
<span class="medgenPMjournal">Arch Neurol</span>
|
||
1985 Feb;42(2):143-4.
|
||
doi: 10.1001/archneur.1985.04060020053015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3977641" target="_blank">3977641</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6243929">Familial infantile myasthenia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Robertson WC,
|
||
Chun RW,
|
||
Kornguth SE</span><br />
|
||
<span class="medgenPMjournal">Arch Neurol</span>
|
||
1980 Feb;37(2):117-9.
|
||
doi: 10.1001/archneur.1980.00500510075018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6243929" target="_blank">6243929</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1165526">Familial infantile myasthenia gravis: a cause of sudden death in young children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Conomy JP,
|
||
Levinsohn M,
|
||
Fanaroff A</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
1975 Sep;87(3):428-30.
|
||
doi: 10.1016/s0022-3476(75)80651-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1165526" target="_blank">1165526</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20infantile%20myasthenia%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 (4)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/7954508">Familial infantile myasthenia: a neuromuscular cause of respiratory failure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zammarchi E,
|
||
Donati MA,
|
||
Masi S,
|
||
Sarti A,
|
||
Castelli S</span><br />
|
||
<span class="medgenPMjournal">Childs Nerv Syst</span>
|
||
1994 Jul;10(5):347-9.
|
||
doi: 10.1007/BF00335178.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7954508" target="_blank">7954508</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1743419">Familial infantile myasthenia: a diagnostic problem.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Matthes JW,
|
||
Kenna AP,
|
||
Fawcett PR</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
1991 Oct;33(10):924-9.
|
||
doi: 10.1111/j.1469-8749.1991.tb14805.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1743419" target="_blank">1743419</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3977641">Familial infantile myasthenia gravis. Report of three cases with follow-up until adult life.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gieron MA,
|
||
Korthals JK</span><br />
|
||
<span class="medgenPMjournal">Arch Neurol</span>
|
||
1985 Feb;42(2):143-4.
|
||
doi: 10.1001/archneur.1985.04060020053015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3977641" target="_blank">3977641</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6243929">Familial infantile myasthenia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Robertson WC,
|
||
Chun RW,
|
||
Kornguth SE</span><br />
|
||
<span class="medgenPMjournal">Arch Neurol</span>
|
||
1980 Feb;37(2):117-9.
|
||
doi: 10.1001/archneur.1980.00500510075018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6243929" target="_blank">6243929</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20infantile%20myasthenia%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 (4)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/9097970">Mapping of the familial infantile myasthenia (congenital myasthenic syndrome type Ia) gene to chromosome 17p with evidence of genetic homogeneity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Christodoulou K,
|
||
Tsingis M,
|
||
Deymeer F,
|
||
Serdaroglu P,
|
||
Ozdemir C,
|
||
Al-Shehab A,
|
||
Bairactaris C,
|
||
Mavromatis I,
|
||
Mylonas I,
|
||
Evoli A,
|
||
Kyriallis K,
|
||
Middleton LT</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
1997 Apr;6(4):635-40.
|
||
doi: 10.1093/hmg/6.4.635.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9097970" target="_blank">9097970</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20infantile%20myasthenia%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 (1)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
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||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<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>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
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|
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|
||
<div class="portlet mgSection" id="ID_106">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0393929%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (26)</a></li>
|
||
<li><a href="/gtr/tests?term=C0393929%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0393929%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0393929%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (35)</a></li>
|
||
<li><a href="/gtr/tests?term=C0393929%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (7)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0393929%5bDISCUI%5d" target="_blank">See all (40)</a></total></li>
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<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
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|
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<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=140751" ref="log$=recordlinks">PubMed (OMIM)</a>
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<div class="ralinkpop offscreen_noflow">Familial infantile myasthenia<div class="brieflinkpopdesc"></div></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67ca7225a68b6b5afc98aa91">C0342637[trait identifier] AND "Labcorp Genetics (formerly Invita... <span class="number">(236)</span></a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67ca7224b15b832ebc32720e">Familial hypocalciuric hypercalcemia 1</a>
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