publicdata/nih-gov
1
0
Fork 0
Code Issues Pull requests Projects Releases Packages Wiki Activity Actions
nih-gov/www.ncbi.nlm.nih.gov/medgen/CN378548/index.html

2186 lines
No EOL
99 KiB
HTML
Raw Permalink Blame History

This file contains invisible Unicode characters

This file contains invisible Unicode characters that are indistinguishable to humans but may be processed differently by a computer. If you think that this is intentional, you can safely ignore this warning. Use the Escape button to reveal them.

<?xml version="1.0" encoding="utf-8"?>
<!DOCTYPE html PUBLIC "-//W3C//DTD XHTML 1.0 Transitional//EN" "http://www.w3.org/TR/xhtml1/DTD/xhtml1-transitional.dtd">
<html xmlns="http://www.w3.org/1999/xhtml" lang="en" xml:lang="en">
<head xmlns:xi="http://www.w3.org/2001/XInclude"><meta http-equiv="Content-Type" content="text/html; charset=utf-8" />
<!-- meta -->
<meta name="keywords" content="CN378548, cmyo25, congenital myopathy 25, disease or syndrome, jph1, 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 myopathy-25 (CMYO25) is an autosomal recessive disorder of congenital myopathy characterized by prominent facial, ocular, and bulbar features (Johari et al., 2024)." /><meta name="robots" content="index,nofollow,noarchive" />
<meta name="ncbi_app" content="entrez" /><meta name="ncbi_db" content="medgen" /><meta name="ncbi_term" content="cn378548[conceptid]" /><meta name="ncbi_report" content="fullreport" /><meta name="ncbi_format" content="html" /><meta name="ncbi_pagesize" content="20" /><meta name="ncbi_sortorder" content="default" /><meta name="ncbi_pageno" content="1" /><meta name="ncbi_resultcount" content="1" /><meta name="ncbi_op" content="search" /><meta name="ncbi_pdid" content="fullreport" /><meta name="ncbi_sessionid" content="CE8B5AF87C7FFCB1_0191SID" /><meta name="ncbi_filter" content="clinical" /><meta name="ncbi_stat" content="false" /><meta name="ncbi_hitstat" content="false" />
<!-- title -->
<title>CONGENITAL MYOPATHY 25 (Concept Id: CN378548)
- MedGen - NCBI</title>
<!-- Common JS and CSS -->
<script type="text/javascript">
var ncbi_startTime = new Date();
</script>
<script type="text/javascript" src="https://static.pubmed.gov/core/jig/1.15.10/js/jig.min.js"></script>
<link xmlns="http://www.w3.org/1999/xhtml" type="text/css" rel="stylesheet" href="//static.pubmed.gov/portal/portal3rc.fcgi/4218191/css/4207974/4206132.css" xml:base="http://127.0.0.1/sites/static/header_footer/" />
<link rel="shortcut icon" href="//www.ncbi.nlm.nih.gov/favicon.ico" /><meta name="ncbi_phid" content="CE8E212C7CD16D510000000000400035.m_30" /><script type="text/javascript"><!--
var ScriptPath = '/portal/';
var objHierarchy = {"name":"EntrezSystem2","type":"Layout","realname":"EntrezSystem2",
"children":[{"name":"EntrezSystem2.PEntrez","type":"Cluster","realname":"EntrezSystem2.PEntrez",
"children":[{"name":"EntrezSystem2.PEntrez.DbConnector","type":"Portlet","realname":"EntrezSystem2.PEntrez.PEntrez.DbConnector","shortname":"DbConnector"},
{"name":"EntrezSystem2.PEntrez.ParamContainer","type":"Portlet","realname":"EntrezSystem2.PEntrez.PEntrez.ParamContainer","shortname":"ParamContainer"},
{"name":"EntrezSystem2.PEntrez.MyNcbi","type":"Portlet","realname":"EntrezSystem2.PEntrez.PEntrez.MyNcbi","shortname":"MyNcbi"},
{"name":"EntrezSystem2.PEntrez.UserPreferenceUrlParamContainer","type":"Portlet","realname":"EntrezSystem2.PEntrez.PEntrez.UserPreferenceUrlParamContainer","shortname":"UserPreferenceUrlParamContainer"},
{"name":"EntrezSystem2.PEntrez.GridProperty","type":"Portlet","realname":"EntrezSystem2.PEntrez.PEntrez.GridProperty","shortname":"GridProperty"},
{"name":"EntrezSystem2.PEntrez.MedGen","type":"Cluster","realname":"EntrezSystem2.PEntrez.MedGen",
"children":[{"name":"EntrezSystem2.PEntrez.MedGen.NoPortlet","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.NoPortlet","shortname":"NoPortlet"},
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_PageController","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_PageController","shortname":"MedGen_PageController"},
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_SearchBar","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_SearchBar","shortname":"MedGen_SearchBar"},
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_BotRequest","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_BotRequest","shortname":"MedGen_BotRequest"},
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_LimitsTab","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_LimitsTab","shortname":"MedGen_LimitsTab"},
{"name":"EntrezSystem2.PEntrez.MedGen.Entrez_Facets","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.Entrez_Facets","shortname":"Entrez_Facets"},
{"name":"EntrezSystem2.PEntrez.MedGen.Entrez_Clipboard","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.Entrez_Clipboard","shortname":"Entrez_Clipboard"},
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_StaticParts","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_StaticParts","shortname":"MedGen_StaticParts"},
{"name":"EntrezSystem2.PEntrez.MedGen.Entrez_Messages","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.Entrez_Messages","shortname":"Entrez_Messages"},
{"name":"EntrezSystem2.PEntrez.MedGen.NcbiJSCheck","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.NcbiJSCheck","shortname":"NcbiJSCheck"},
{"name":"EntrezSystem2.PEntrez.MedGen.NCBIFooter_dynamic","type":"Cluster","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.NCBIFooter_dynamic",
"children":[{"name":"EntrezSystem2.PEntrez.MedGen.NCBIFooter_dynamic.Footer_ExtraData","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.NCBIFooter_dynamic.Footer_ExtraData","shortname":"Footer_ExtraData"},
{"name":"EntrezSystem2.PEntrez.MedGen.NCBIFooter_dynamic.NCBIFooter_dynamic","type":"Cluster","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.NCBIFooter_dynamic.NCBIFooter_dynamic",
"children":[{"name":"EntrezSystem2.PEntrez.MedGen.NCBIFooter_dynamic.NCBIFooter_dynamic.NCBIBreadcrumbs","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.NCBIFooter_dynamic.NCBIFooter_dynamic.NCBIBreadcrumbs","shortname":"NCBIBreadcrumbs"},
{"name":"EntrezSystem2.PEntrez.MedGen.NCBIFooter_dynamic.NCBIFooter_dynamic.NCBIHelpDesk","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.NCBIFooter_dynamic.NCBIFooter_dynamic.NCBIHelpDesk","shortname":"NCBIHelpDesk"},
{"name":"EntrezSystem2.PEntrez.MedGen.NCBIFooter_dynamic.NCBIFooter_dynamic.NCBIApplog_NoScript_Ping","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.Entrez_Database.NCBIFooter_dynamic.NCBIFooter_dynamic.NCBIApplog_NoScript_Ping","shortname":"NCBIApplog_NoScript_Ping"}]}]},
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel","type":"Cluster","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel",
"children":[{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.blankToolPanel","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.blankToolPanel","shortname":"blankToolPanel"},
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_ResultsController","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_ResultsController","shortname":"MedGen_ResultsController"},
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_FiltersPortlet","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_FiltersPortlet","shortname":"MedGen_FiltersPortlet"},
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_Pager","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.Entrez_Pager","shortname":"Entrez_Pager"},
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar","shortname":"MedGen_DisplayBar"},
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HelpFormAttributes","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.HelpFormAttributes","shortname":"HelpFormAttributes"},
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_Collections","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.Entrez_Collections","shortname":"Entrez_Collections"},
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.SpellCheck","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.SpellCheck","shortname":"SpellCheck"},
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.SearchEngineReferralCheck","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.SearchEngineReferralCheck","shortname":"SearchEngineReferralCheck"},
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.WrongDbSensor","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.WrongDbSensor","shortname":"WrongDbSensor"},
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.KnowledgePanel","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.KnowledgePanel","shortname":"KnowledgePanel"},
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.HistoryDisplay","shortname":"HistoryDisplay"},
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Discovery_SearchDetails","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_ResultsPanel.Discovery_SearchDetails","shortname":"Discovery_SearchDetails"},
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.mg_GeneSensor","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.mg_GeneSensor","shortname":"mg_GeneSensor"},
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_ClinFeatureSearch","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_ClinFeatureSearch","shortname":"MedGen_ClinFeatureSearch"},
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVFull","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVFull","shortname":"MedGen_RVFull"},
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster","type":"Cluster","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster",
"children":[{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks","shortname":"MedGenDiscoveryDbLinks"},
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGen_SingleItemSupl","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGen_SingleItemSupl","shortname":"MedGen_SingleItemSupl"},
{"name":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews","type":"Portlet","realname":"EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews","shortname":"MedGenReviews"}]}]}]}]}]};
--></script>
<meta name='referrer' content='origin-when-cross-origin'/><link type="text/css" rel="stylesheet" href="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/css/3808861/3917732/3974050/3751656/3395415/4221762/14534/4062871/4186458/4075711/12930/4033350/4128070/3861632/4013176/4212357/4064428/4186491/9685/2279/3395586.css" /><link type="text/css" rel="stylesheet" href="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/css/3501913/1303451.css" media="print" /><script type="text/javascript">
var ObjectLinks=[{i:0, ename: "p$ExL", esid:"*", sname: "p$ExL", ssid:"*", dname:"p$el", dsid:"0",m:"CopyValue",p:[],f: function(src, dst) {fn_CopyValue(src, dst);}}]
var ActiveNames = {"p$ExL":1, "EntrezSystem2.PEntrez.DbConnector.Cmd":0, "EntrezSystem2.PEntrez.DbConnector.Db":0, "EntrezSystem2.PEntrez.DbConnector.IdsFromResult":0, "EntrezSystem2.PEntrez.DbConnector.LastDb":0, "EntrezSystem2.PEntrez.DbConnector.LastIdsFromResult":0, "EntrezSystem2.PEntrez.DbConnector.LastQueryKey":0, "EntrezSystem2.PEntrez.DbConnector.LastTabCmd":0, "EntrezSystem2.PEntrez.DbConnector.LinkName":0, "EntrezSystem2.PEntrez.DbConnector.LinkReadableName":0, "EntrezSystem2.PEntrez.DbConnector.LinkSrcDb":0, "EntrezSystem2.PEntrez.DbConnector.QueryKey":0, "EntrezSystem2.PEntrez.DbConnector.TabCmd":0, "EntrezSystem2.PEntrez.DbConnector.Term":0, "EntrezSystem2.PEntrez.MedGen.MedGen_PageController.PreviousPageName":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryOn":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.Display":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.FFormat":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.FileFormat":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.Format":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.LastFormat":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.LastPageSize":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.LastPresentation":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.PageSize":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.Presentation":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.PrevPageSize":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.PrevPresentation":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.PrevSort":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SendTo":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SendToSubmit":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SetDisplay":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.sPresentation":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_ResultsController.ResultCount":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_ResultsController.RunLastQuery":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter":0, "EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter":0};
</script></head>
<body>
<div class="grid">
<div class="col twelve_col nomargin shadow">
<form enctype="application/x-www-form-urlencoded" name="EntrezForm" method="post" onsubmit="return false;" action="/medgen" id="EntrezForm">
<div xmlns:xi="http://www.w3.org/2001/XInclude">
<!-- no javascript message -->
<noscript>
<p class="nojs">
<strong>Warning:</strong>
The NCBI web site requires JavaScript to function.
<a href="/guide/browsers/#enablejs" title="Learn how to enable JavaScript" target="_blank">more...</a>
</p>
</noscript>
<div xmlns="http://www.w3.org/1999/xhtml" id="universal_header" xml:base="http://127.0.0.1/sites/static/header_footer/">
<section class="usa-banner">
<div class="usa-accordion">
<header class="usa-banner-header">
<div class="usa-grid usa-banner-inner">
<img src="https://www.ncbi.nlm.nih.gov/coreutils/uswds/img/favicons/favicon-57.png" alt="U.S. flag" />
<p>An official website of the United States government</p>
<button class="non-usa-accordion-button usa-banner-button" aria-expanded="false" aria-controls="gov-banner-top" type="button">
<span class="usa-banner-button-text">Here's how you know</span>
</button>
</div>
</header>
<div class="usa-banner-content usa-grid usa-accordion-content" id="gov-banner-top" aria-hidden="true">
<div class="usa-banner-guidance-gov usa-width-one-half">
<img class="usa-banner-icon usa-media_block-img" src="https://www.ncbi.nlm.nih.gov/coreutils/uswds/img/icon-dot-gov.svg" alt="Dot gov" />
<div class="usa-media_block-body">
<p>
<strong>The .gov means it's official.</strong>
<br />
Federal government websites often end in .gov or .mil. Before
sharing sensitive information, make sure you're on a federal
government site.
</p>
</div>
</div>
<div class="usa-banner-guidance-ssl usa-width-one-half">
<img class="usa-banner-icon usa-media_block-img" src="https://www.ncbi.nlm.nih.gov/coreutils/uswds/img/icon-https.svg" alt="Https" />
<div class="usa-media_block-body">
<p>
<strong>The site is secure.</strong>
<br />
The <strong>https://</strong> ensures that you are connecting to the
official website and that any information you provide is encrypted
and transmitted securely.
</p>
</div>
</div>
</div>
</div>
</section>
<div class="usa-overlay"></div>
<header class="ncbi-header" role="banner" data-section="Header">
<div class="usa-grid">
<div class="usa-width-one-whole">
<div class="ncbi-header__logo">
<a href="/" class="logo" aria-label="NCBI Logo" data-ga-action="click_image" data-ga-label="NIH NLM Logo">
<img src="https://www.ncbi.nlm.nih.gov/coreutils/nwds/img/logos/AgencyLogo.svg" alt="NIH NLM Logo" />
</a>
</div>
<div class="ncbi-header__account">
<a id="account_login" href="https://account.ncbi.nlm.nih.gov" class="usa-button header-button" style="display:none" data-ga-action="open_menu" data-ga-label="account_menu">Log in</a>
<button id="account_info" class="header-button" style="display:none" aria-controls="account_popup" type="button">
<span class="fa fa-user" aria-hidden="true">
<svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 24 24" width="20px" height="20px">
<g style="fill: #fff">
<ellipse cx="12" cy="8" rx="5" ry="6"></ellipse>
<path d="M21.8,19.1c-0.9-1.8-2.6-3.3-4.8-4.2c-0.6-0.2-1.3-0.2-1.8,0.1c-1,0.6-2,0.9-3.2,0.9s-2.2-0.3-3.2-0.9 C8.3,14.8,7.6,14.7,7,15c-2.2,0.9-3.9,2.4-4.8,4.2C1.5,20.5,2.6,22,4.1,22h15.8C21.4,22,22.5,20.5,21.8,19.1z"></path>
</g>
</svg>
</span>
<span class="username desktop-only" aria-hidden="true" id="uname_short"></span>
<span class="sr-only">Show account info</span>
</button>
</div>
<div class="ncbi-popup-anchor">
<div class="ncbi-popup account-popup" id="account_popup" aria-hidden="true">
<div class="ncbi-popup-head">
<button class="ncbi-close-button" data-ga-action="close_menu" data-ga-label="account_menu" type="button">
<span class="fa fa-times">
<svg xmlns="http://www.w3.org/2000/svg" viewBox="0 0 48 48" width="24px" height="24px">
<path d="M38 12.83l-2.83-2.83-11.17 11.17-11.17-11.17-2.83 2.83 11.17 11.17-11.17 11.17 2.83 2.83 11.17-11.17 11.17 11.17 2.83-2.83-11.17-11.17z"></path>
</svg>
</span>
<span class="usa-sr-only">Close</span></button>
<h4>Account</h4>
</div>
<div class="account-user-info">
Logged in as:<br />
<b><span class="username" id="uname_long">username</span></b>
</div>
<div class="account-links">
<ul class="usa-unstyled-list">
<li><a id="account_myncbi" href="/myncbi/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_myncbi">Dashboard</a></li>
<li><a id="account_pubs" href="/myncbi/collections/bibliography/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_pubs">Publications</a></li>
<li><a id="account_settings" href="/account/settings/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_settings">Account settings</a></li>
<li><a id="account_logout" href="/account/signout/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_logout">Log out</a></li>
</ul>
</div>
</div>
</div>
</div>
</div>
</header>
<div role="navigation" aria-label="access keys">
<a id="nws_header_accesskey_0" href="https://www.ncbi.nlm.nih.gov/guide/browsers/#ncbi_accesskeys" class="usa-sr-only" accesskey="0" tabindex="-1">Access keys</a>
<a id="nws_header_accesskey_1" href="https://www.ncbi.nlm.nih.gov" class="usa-sr-only" accesskey="1" tabindex="-1">NCBI Homepage</a>
<a id="nws_header_accesskey_2" href="/myncbi/" class="set-base-url usa-sr-only" accesskey="2" tabindex="-1">MyNCBI Homepage</a>
<a id="nws_header_accesskey_3" href="#maincontent" class="usa-sr-only" accesskey="3" tabindex="-1">Main Content</a>
<a id="nws_header_accesskey_4" href="#" class="usa-sr-only" accesskey="4" tabindex="-1">Main Navigation</a>
</div>
<section data-section="Alerts">
<div class="ncbi-alerts-placeholder"></div>
</section>
</div>
<div class="header">
<!-- logo -->
<div class="res_logo" id="gene-top">
<h1 class="res_name"><a href="/medgen">MedGen</a></h1>
<h2 class="res_tagline">National Center for Biotechnology Information</h2>
</div>
<!-- SearchBar -->
<div class="search"><div class="search_form"><label for="database" class="offscreen_noflow">Search database</label><select id="database"><optgroup label="Recent"><option value="medgen" selected="selected" data-ac_dict="medgen_disease_name">MedGen</option><option value="clinvar">ClinVar</option><option value="pubmed" data-ac_dict="pm_related_queries_2">PubMed</option><option value="books" class="last">Books</option></optgroup><optgroup label="All"><option value="gquery">All Databases</option><option value="assembly">Assembly</option><option value="biocollections">Biocollections</option><option value="bioproject">BioProject</option><option value="biosample">BioSample</option><option value="books">Books</option><option value="clinvar">ClinVar</option><option value="cdd">Conserved Domains</option><option value="gap">dbGaP</option><option value="dbvar">dbVar</option><option value="gene">Gene</option><option value="genome">Genome</option><option value="gds">GEO DataSets</option><option value="geoprofiles">GEO Profiles</option><option value="gtr">GTR</option><option value="ipg">Identical Protein Groups</option><option value="medgen" data-ac_dict="medgen_disease_name">MedGen</option><option value="mesh" data-ac_dict="mesh_suggestions">MeSH</option><option value="nlmcatalog">NLM Catalog</option><option value="nuccore">Nucleotide</option><option value="omim">OMIM</option><option value="pmc">PMC</option><option value="protein">Protein</option><option value="proteinclusters">Protein Clusters</option><option value="protfam">Protein Family Models</option><option value="pcassay">PubChem BioAssay</option><option value="pccompound">PubChem Compound</option><option value="pcsubstance">PubChem Substance</option><option value="pubmed" data-ac_dict="pm_related_queries_2">PubMed</option><option value="snp">SNP</option><option value="sra">SRA</option><option value="structure">Structure</option><option value="taxonomy">Taxonomy</option><option value="toolkit">ToolKit</option><option value="toolkitall">ToolKitAll</option><option value="toolkitbookgh">ToolKitBookgh</option></optgroup></select><div class="nowrap"><label for="term" class="offscreen_noflow" accesskey="/">Search term</label><div class="nowrap"><input type="text" name="term" id="term" title="Search MedGen. Use up and down arrows to choose an item from the autocomplete." value="" class="jig-ncbiclearbutton jig-ncbiautocomplete" data-jigconfig="dictionary:'medgen_disease_name',disableUrl:'NcbiSearchBarAutoComplCtrl'" autocomplete="off" data-sbconfig="ds:'no',pjs:'yes',afs:'yes'" /></div><button id="search" type="submit" class="button_search nowrap" cmd="go">Search</button></div></div><ul class="searchlinks inline_list"><set></set><li><a name="SaveSearch" title="Click to create an email alert for this search" href="/sites/myncbi/searches/save?db=medgen&amp;qk=37468" id="SaveSearch">Create alert</a></li><li><a sid="1" href="/medgen/limits">Limits</a></li><li><a href="/medgen/advanced">Advanced</a></li><li class="help"><a id="help" class="jig-ncbihelpwindow" target="ncbihelp" name="help" href="/medgen/docs/help">Help</a></li></ul></div>
</div>
<input name="EntrezSystem2.PEntrez.MedGen.MedGen_PageController.PreviousPageName" sid="1" type="hidden" value="results" />
<div id="maincontent" class="col nine_col">
<div class="content">
<div>
</div>
<div class="results_settings one_setting"><ul class="inline_list left display_settings"><li><a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.Display" sid="0" href="#" class="jig-ncbipopper" data-jigconfig="triggerPosition : 'bottom center',destPosition : 'top center',destSelector : '#display_settings_menu_report', hasArrow : false,openEvent : 'click',closeEvent : 'click',isTriggerElementCloseClick: false,addCloseButton : false, groupName: 'entrez_pg'" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.Display">Full Report<span href="#" class="tgt_dark"></span></a></li></ul><div id="display_settings_menu_report" class="disp_settings tabPopper"><fieldset class="format"><legend>Format</legend><ul class="column_list"><li><input type="radio" name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.sPresentation" sid="1" value="FullReport" format="" id="FullReport" checked="true" /><label for="FullReport">Full Report</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.sPresentation" sid="2" value="FullReport" format="text" id="FullReporttext" /><label for="FullReporttext">Summary (Text)</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.sPresentation" sid="3" value="XML" format="text" id="XMLtext" /><label for="XMLtext">Summary (XML)</label></li></ul></fieldset></div><button name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SetDisplay" sid="1" class="button_apply ncbipopper-close-button" style="display:none">Apply</button><h4 class="content_header send_to align_right jig-ncbipopper" id="sendto" data-jigconfig="triggerPosition:'bottom center', destPosition : 'top center',destSelector : '#send_to_menu', hasArrow : false, openEvent : 'click',closeEvent : 'click', isTriggerElementCloseClick: false, addCloseButton:true, groupName: 'entrez_pg', adjustFit:'none'"><a href="#" sourceContent="send_to_menu" class="tgt_dark">Send to:</a><script type="text/javascript">
jQuery(document).ready( function () {
jQuery("#send_to_menu input[type='radio']").click( function () {
var selectedValue = jQuery(this).val().toLowerCase();
var selectedDiv = jQuery("#send_to_menu div." + selectedValue);
if(selectedDiv.is(":hidden")){
jQuery("#send_to_menu div.submenu:visible").slideUp();
selectedDiv.slideDown();
}
});
});
jQuery("#sendto").bind("ncbipopperclose", function(){
jQuery("#send_to_menu div.submenu:visible").css("display","none");
jQuery("#send_to_menu input[type='radio']:checked").attr("checked",false);
});
</script></h4><div id="send_to_menu" class="tabPopper send_to"><fieldset><legend>Choose Destination</legend><ul class="column_list"><li><input type="radio" name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SendTo" sid="1" value="File" id="dest_File" /><label for="dest_File">File</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SendTo" sid="2" value="AddToClipboard" id="dest_AddToClipboard" /><label for="dest_AddToClipboard">Clipboard</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SendTo" sid="3" value="AddToCollections" id="dest_AddToCollections" /><label for="dest_AddToCollections">Collections</label></li></ul></fieldset><div class="submenu file" id="submenu_File" style="display: none;"><p id="submenu_File_hint" class="hidden"></p><ul><li><label for="file_format">Format</label><select id="file_format" name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.FFormat" sid="1"><option value="FullReport" format="text" selected="selected">Summary (Text)</option><option value="XML" format="text">Summary (XML)</option></select></li></ul><button name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SendToSubmit" sid="1" class="button_apply file ncbipopper-close-button" type="submit" cmd="File">Create File</button></div><div class="submenu addtoclipboard" id="submenu_AddToClipboard" style="display: none;"><p id="submenu_AddToClipboard_hint" class="hidden"></p><button name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SendToSubmit" sid="2" class="button_apply clipboard ncbipopper-close-button" type="submit" cmd="AddToClipboard">Add to Clipboard</button></div><div class="submenu addtocollections" id="submenu_AddToCollections" style="display: none;"><p id="submenu_AddToCollections_hint" class="hidden"></p><button name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SendToSubmit" sid="3" class="button_apply collections ncbipopper-close-button" type="submit" cmd="AddToCollections">Add to Collections</button></div></div><div><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.FileFormat" sid="1" type="hidden" value="FullReport" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.LastPresentation" sid="1" type="hidden" value="FullReport" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.Presentation" sid="1" type="hidden" value="FullReport" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.PageSize" sid="1" type="hidden" value="20" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.LastPageSize" sid="1" type="hidden" value="20" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.Format" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.LastFormat" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.PrevPageSize" sid="1" type="hidden" value="20" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.PrevPresentation" sid="1" type="hidden" value="FullReport" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.PrevSort" sid="1" type="hidden" value="" /><input type="hidden" id="coll_startindex" name="CollectionStartIndex" value="1" /></div></div>
<div class="">
<div><span id="result_sel" class="nowrap"></span><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_ResultsController.ResultCount" sid="1" type="hidden" id="resultcount" value="1" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_ResultsController.RunLastQuery" sid="1" type="hidden" /></div>
</div>
<div id="messagearea" class="empty">
</div>
<div><div class="rprt full-rprt"><div class="portlet" style="border-top-style: none; margin-top: 0px; padding-top: 0px; margin-bottom: 0px; padding-left: 0.2em;">
<!--
UID=1054399
ConceptID=CN378548
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">CONGENITAL MYOPATHY 25<span class="h1sub">(CMYO25)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1054399</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms&#10;that cannot be identified in NLM's Unified Medical Language system (UMLS)&#10;Click for more information."><span class="highlight" style="background-color:">CN378548</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
<td>CMYO25</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="JPH1 - ID: 56704 - NCBI Gene" href="/gene/56704" class="medgenPMinfo">JPH1</a> (8q21.11)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/620964" target="_blank">620964</a></td></tr>
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
<div class="portlet mgSection" id="ID_100">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">Congenital myopathy-25 (CMYO25) is an autosomal recessive disorder of congenital myopathy characterized by prominent facial, ocular, and bulbar features (Johari et al., 2024). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
</div>
<div class="portlet mgSection" id="ID_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/37856057">MicroRNAs as a Tool for Differential Diagnosis of Neuromuscular Disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mousa NO,
Abdellatif A,
Fahmy N,
El-Fawal H,
Osman A</span><br />
<span class="medgenPMjournal">Neuromolecular Med</span>
2023 Dec;25(4):603-615.
Epub 2023 Oct 19
doi: 10.1007/s12017-023-08763-0.
<span class="bold">PMID: </span><a href="/pubmed/37856057" target="_blank">37856057</a><a href="/pmc/articles/PMC10721695" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31318155">Fetal arthrogryposis: Challenges and perspectives for prenatal detection and management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Filges I,
Tercanli S,
Hall JG</span><br />
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
2019 Sep;181(3):327-336.
Epub 2019 Jul 18
doi: 10.1002/ajmg.c.31723.
<span class="bold">PMID: </span><a href="/pubmed/31318155" target="_blank">31318155</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27130656">MTHFR: Addressing Genetic Counseling Dilemmas Using Evidence-Based Literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Levin BL,
Varga E</span><br />
<span class="medgenPMjournal">J Genet Couns</span>
2016 Oct;25(5):901-11.
Epub 2016 Apr 30
doi: 10.1007/s10897-016-9956-7.
<span class="bold">PMID: </span><a href="/pubmed/27130656" target="_blank">27130656</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(congenital%20myopathy%2025)%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 (39)</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/31794464">Congenital Muscular Dystrophy and Congenital Myopathy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Butterfield RJ</span><br />
<span class="medgenPMjournal">Continuum (Minneap Minn)</span>
2019 Dec;25(6):1640-1661.
doi: 10.1212/CON.0000000000000792.
<span class="bold">PMID: </span><a href="/pubmed/31794464" target="_blank">31794464</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29930110">Analysis of shared heritability in common disorders of the brain.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Brainstorm Consortium,
Anttila V,
Bulik-Sullivan B,
Finucane HK,
Walters RK,
Bras J,
Duncan L,
Escott-Price V,
Falcone GJ,
Gormley P,
Malik R,
Patsopoulos NA,
Ripke S,
Wei Z,
Yu D,
Lee PH,
Turley P,
Grenier-Boley B,
Chouraki V,
Kamatani Y,
Berr C,
Letenneur L,
Hannequin D,
Amouyel P,
Boland A,
Deleuze JF,
Duron E,
Vardarajan BN,
Reitz C,
Goate AM,
Huentelman MJ,
Kamboh MI,
Larson EB,
Rogaeva E,
St George-Hyslop P,
Hakonarson H,
Kukull WA,
Farrer LA,
Barnes LL,
Beach TG,
Demirci FY,
Head E,
Hulette CM,
Jicha GA,
Kauwe JSK,
Kaye JA,
Leverenz JB,
Levey AI,
Lieberman AP,
Pankratz VS,
Poon WW,
Quinn JF,
Saykin AJ,
Schneider LS,
Smith AG,
Sonnen JA,
Stern RA,
Van Deerlin VM,
Van Eldik LJ,
Harold D,
Russo G,
Rubinsztein DC,
Bayer A,
Tsolaki M,
Proitsi P,
Fox NC,
Hampel H,
Owen MJ,
Mead S,
Passmore P,
Morgan K,
Nöthen MM,
Rossor M,
Lupton MK,
Hoffmann P,
Kornhuber J,
Lawlor B,
McQuillin A,
Al-Chalabi A,
Bis JC,
Ruiz A,
Boada M,
Seshadri S,
Beiser A,
Rice K,
van der Lee SJ,
De Jager PL,
Geschwind DH,
Riemenschneider M,
Riedel-Heller S,
Rotter JI,
Ransmayr G,
Hyman BT,
Cruchaga C,
Alegret M,
Winsvold B,
Palta P,
Farh KH,
Cuenca-Leon E,
Furlotte N,
Kurth T,
Ligthart L,
Terwindt GM,
Freilinger T,
Ran C,
Gordon SD,
Borck G,
Adams HHH,
Lehtimäki T,
Wedenoja J,
Buring JE,
Schürks M,
Hrafnsdottir M,
Hottenga JJ,
Penninx B,
Artto V,
Kaunisto M,
Vepsäläinen S,
Martin NG,
Montgomery GW,
Kurki MI,
Hämäläinen E,
Huang H,
Huang J,
Sandor C,
Webber C,
Muller-Myhsok B,
Schreiber S,
Salomaa V,
Loehrer E,
Göbel H,
Macaya A,
Pozo-Rosich P,
Hansen T,
Werge T,
Kaprio J,
Metspalu A,
Kubisch C,
Ferrari MD,
Belin AC,
van den Maagdenberg AMJM,
Zwart JA,
Boomsma D,
Eriksson N,
Olesen J,
Chasman DI,
Nyholt DR,
Avbersek A,
Baum L,
Berkovic S,
Bradfield J,
Buono RJ,
Catarino CB,
Cossette P,
De Jonghe P,
Depondt C,
Dlugos D,
Ferraro TN,
French J,
Hjalgrim H,
Jamnadas-Khoda J,
Kälviäinen R,
Kunz WS,
Lerche H,
Leu C,
Lindhout D,
Lo W,
Lowenstein D,
McCormack M,
Møller RS,
Molloy A,
Ng PW,
Oliver K,
Privitera M,
Radtke R,
Ruppert AK,
Sander T,
Schachter S,
Schankin C,
Scheffer I,
Schoch S,
Sisodiya SM,
Smith P,
Sperling M,
Striano P,
Surges R,
Thomas GN,
Visscher F,
Whelan CD,
Zara F,
Heinzen EL,
Marson A,
Becker F,
Stroink H,
Zimprich F,
Gasser T,
Gibbs R,
Heutink P,
Martinez M,
Morris HR,
Sharma M,
Ryten M,
Mok KY,
Pulit S,
Bevan S,
Holliday E,
Attia J,
Battey T,
Boncoraglio G,
Thijs V,
Chen WM,
Mitchell B,
Rothwell P,
Sharma P,
Sudlow C,
Vicente A,
Markus H,
Kourkoulis C,
Pera J,
Raffeld M,
Silliman S,
Boraska Perica V,
Thornton LM,
Huckins LM,
William Rayner N,
Lewis CM,
Gratacos M,
Rybakowski F,
Keski-Rahkonen A,
Raevuori A,
Hudson JI,
Reichborn-Kjennerud T,
Monteleone P,
Karwautz A,
Mannik K,
Baker JH,
O'Toole JK,
Trace SE,
Davis OSP,
Helder SG,
Ehrlich S,
Herpertz-Dahlmann B,
Danner UN,
van Elburg AA,
Clementi M,
Forzan M,
Docampo E,
Lissowska J,
Hauser J,
Tortorella A,
Maj M,
Gonidakis F,
Tziouvas K,
Papezova H,
Yilmaz Z,
Wagner G,
Cohen-Woods S,
Herms S,
Julià A,
Rabionet R,
Dick DM,
Ripatti S,
Andreassen OA,
Espeseth T,
Lundervold AJ,
Steen VM,
Pinto D,
Scherer SW,
Aschauer H,
Schosser A,
Alfredsson L,
Padyukov L,
Halmi KA,
Mitchell J,
Strober M,
Bergen AW,
Kaye W,
Szatkiewicz JP,
Cormand B,
Ramos-Quiroga JA,
Sánchez-Mora C,
Ribasés M,
Casas M,
Hervas A,
Arranz MJ,
Haavik J,
Zayats T,
Johansson S,
Williams N,
Dempfle A,
Rothenberger A,
Kuntsi J,
Oades RD,
Banaschewski T,
Franke B,
Buitelaar JK,
Arias Vasquez A,
Doyle AE,
Reif A,
Lesch KP,
Freitag C,
Rivero O,
Palmason H,
Romanos M,
Langley K,
Rietschel M,
Witt SH,
Dalsgaard S,
Børglum AD,
Waldman I,
Wilmot B,
Molly N,
Bau CHD,
Crosbie J,
Schachar R,
Loo SK,
McGough JJ,
Grevet EH,
Medland SE,
Robinson E,
Weiss LA,
Bacchelli E,
Bailey A,
Bal V,
Battaglia A,
Betancur C,
Bolton P,
Cantor R,
Celestino-Soper P,
Dawson G,
De Rubeis S,
Duque F,
Green A,
Klauck SM,
Leboyer M,
Levitt P,
Maestrini E,
Mane S,
De-Luca DM,
Parr J,
Regan R,
Reichenberg A,
Sandin S,
Vorstman J,
Wassink T,
Wijsman E,
Cook E,
Santangelo S,
Delorme R,
Rogé B,
Magalhaes T,
Arking D,
Schulze TG,
Thompson RC,
Strohmaier J,
Matthews K,
Melle I,
Morris D,
Blackwood D,
McIntosh A,
Bergen SE,
Schalling M,
Jamain S,
Maaser A,
Fischer SB,
Reinbold CS,
Fullerton JM,
Guzman-Parra J,
Mayoral F,
Schofield PR,
Cichon S,
Mühleisen TW,
Degenhardt F,
Schumacher J,
Bauer M,
Mitchell PB,
Gershon ES,
Rice J,
Potash JB,
Zandi PP,
Craddock N,
Ferrier IN,
Alda M,
Rouleau GA,
Turecki G,
Ophoff R,
Pato C,
Anjorin A,
Stahl E,
Leber M,
Czerski PM,
Cruceanu C,
Jones IR,
Posthuma D,
Andlauer TFM,
Forstner AJ,
Streit F,
Baune BT,
Air T,
Sinnamon G,
Wray NR,
MacIntyre DJ,
Porteous D,
Homuth G,
Rivera M,
Grove J,
Middeldorp CM,
Hickie I,
Pergadia M,
Mehta D,
Smit JH,
Jansen R,
de Geus E,
Dunn E,
Li QS,
Nauck M,
Schoevers RA,
Beekman AT,
Knowles JA,
Viktorin A,
Arnold P,
Barr CL,
Bedoya-Berrio G,
Bienvenu OJ,
Brentani H,
Burton C,
Camarena B,
Cappi C,
Cath D,
Cavallini M,
Cusi D,
Darrow S,
Denys D,
Derks EM,
Dietrich A,
Fernandez T,
Figee M,
Freimer N,
Gerber G,
Grados M,
Greenberg E,
Hanna GL,
Hartmann A,
Hirschtritt ME,
Hoekstra PJ,
Huang A,
Huyser C,
Illmann C,
Jenike M,
Kuperman S,
Leventhal B,
Lochner C,
Lyon GJ,
Macciardi F,
Madruga-Garrido M,
Malaty IA,
Maras A,
McGrath L,
Miguel EC,
Mir P,
Nestadt G,
Nicolini H,
Okun MS,
Pakstis A,
Paschou P,
Piacentini J,
Pittenger C,
Plessen K,
Ramensky V,
Ramos EM,
Reus V,
Richter MA,
Riddle MA,
Robertson MM,
Roessner V,
Rosário M,
Samuels JF,
Sandor P,
Stein DJ,
Tsetsos F,
Van Nieuwerburgh F,
Weatherall S,
Wendland JR,
Wolanczyk T,
Worbe Y,
Zai G,
Goes FS,
McLaughlin N,
Nestadt PS,
Grabe HJ,
Depienne C,
Konkashbaev A,
Lanzagorta N,
Valencia-Duarte A,
Bramon E,
Buccola N,
Cahn W,
Cairns M,
Chong SA,
Cohen D,
Crespo-Facorro B,
Crowley J,
Davidson M,
DeLisi L,
Dinan T,
Donohoe G,
Drapeau E,
Duan J,
Haan L,
Hougaard D,
Karachanak-Yankova S,
Khrunin A,
Klovins J,
Kučinskas V,
Lee Chee Keong J,
Limborska S,
Loughland C,
Lönnqvist J,
Maher B,
Mattheisen M,
McDonald C,
Murphy KC,
Nenadic I,
van Os J,
Pantelis C,
Pato M,
Petryshen T,
Quested D,
Roussos P,
Sanders AR,
Schall U,
Schwab SG,
Sim K,
So HC,
Stögmann E,
Subramaniam M,
Toncheva D,
Waddington J,
Walters J,
Weiser M,
Cheng W,
Cloninger R,
Curtis D,
Gejman PV,
Henskens F,
Mattingsdal M,
Oh SY,
Scott R,
Webb B,
Breen G,
Churchhouse C,
Bulik CM,
Daly M,
Dichgans M,
Faraone SV,
Guerreiro R,
Holmans P,
Kendler KS,
Koeleman B,
Mathews CA,
Price A,
Scharf J,
Sklar P,
Williams J,
Wood NW,
Cotsapas C,
Palotie A,
Smoller JW,
Sullivan P,
Rosand J,
Corvin A,
Neale BM,
Schott JM,
Anney R,
Elia J,
Grigoroiu-Serbanescu M,
Edenberg HJ,
Murray R</span><br />
<span class="medgenPMjournal">Science</span>
2018 Jun 22;360(6395)
doi: 10.1126/science.aap8757.
<span class="bold">PMID: </span><a href="/pubmed/29930110" target="_blank">29930110</a><a href="/pmc/articles/PMC6097237" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27130656">MTHFR: Addressing Genetic Counseling Dilemmas Using Evidence-Based Literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Levin BL,
Varga E</span><br />
<span class="medgenPMjournal">J Genet Couns</span>
2016 Oct;25(5):901-11.
Epub 2016 Apr 30
doi: 10.1007/s10897-016-9956-7.
<span class="bold">PMID: </span><a href="/pubmed/27130656" target="_blank">27130656</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24459070">Amyoplasia revisited.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hall JG,
Aldinger KA,
Tanaka KI</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2014 Mar;164A(3):700-30.
Epub 2014 Jan 23
doi: 10.1002/ajmg.a.36395.
<span class="bold">PMID: </span><a href="/pubmed/24459070" target="_blank">24459070</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21496624">Congenital muscular dystrophies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sparks SE,
Escolar DM</span><br />
<span class="medgenPMjournal">Handb Clin Neurol</span>
2011;101:47-79.
doi: 10.1016/B978-0-08-045031-5.00004-9.
<span class="bold">PMID: </span><a href="/pubmed/21496624" target="_blank">21496624</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22CONGENITAL%20MYOPATHY%2025%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 (197)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/34961372">Lethal Restrictive Dermopathy with ZMPSTE24 Mutation.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pradeep I,
Gowrishankar K,
Shanmugasundaram L</span><br />
<span class="medgenPMjournal">Pediatr Dev Pathol</span>
2022 May-Jun;25(3):327-329.
Epub 2021 Dec 27
doi: 10.1177/10935266211065316.
<span class="bold">PMID: </span><a href="/pubmed/34961372" target="_blank">34961372</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31794464">Congenital Muscular Dystrophy and Congenital Myopathy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Butterfield RJ</span><br />
<span class="medgenPMjournal">Continuum (Minneap Minn)</span>
2019 Dec;25(6):1640-1661.
doi: 10.1212/CON.0000000000000792.
<span class="bold">PMID: </span><a href="/pubmed/31794464" target="_blank">31794464</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29930110">Analysis of shared heritability in common disorders of the brain.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Brainstorm Consortium,
Anttila V,
Bulik-Sullivan B,
Finucane HK,
Walters RK,
Bras J,
Duncan L,
Escott-Price V,
Falcone GJ,
Gormley P,
Malik R,
Patsopoulos NA,
Ripke S,
Wei Z,
Yu D,
Lee PH,
Turley P,
Grenier-Boley B,
Chouraki V,
Kamatani Y,
Berr C,
Letenneur L,
Hannequin D,
Amouyel P,
Boland A,
Deleuze JF,
Duron E,
Vardarajan BN,
Reitz C,
Goate AM,
Huentelman MJ,
Kamboh MI,
Larson EB,
Rogaeva E,
St George-Hyslop P,
Hakonarson H,
Kukull WA,
Farrer LA,
Barnes LL,
Beach TG,
Demirci FY,
Head E,
Hulette CM,
Jicha GA,
Kauwe JSK,
Kaye JA,
Leverenz JB,
Levey AI,
Lieberman AP,
Pankratz VS,
Poon WW,
Quinn JF,
Saykin AJ,
Schneider LS,
Smith AG,
Sonnen JA,
Stern RA,
Van Deerlin VM,
Van Eldik LJ,
Harold D,
Russo G,
Rubinsztein DC,
Bayer A,
Tsolaki M,
Proitsi P,
Fox NC,
Hampel H,
Owen MJ,
Mead S,
Passmore P,
Morgan K,
Nöthen MM,
Rossor M,
Lupton MK,
Hoffmann P,
Kornhuber J,
Lawlor B,
McQuillin A,
Al-Chalabi A,
Bis JC,
Ruiz A,
Boada M,
Seshadri S,
Beiser A,
Rice K,
van der Lee SJ,
De Jager PL,
Geschwind DH,
Riemenschneider M,
Riedel-Heller S,
Rotter JI,
Ransmayr G,
Hyman BT,
Cruchaga C,
Alegret M,
Winsvold B,
Palta P,
Farh KH,
Cuenca-Leon E,
Furlotte N,
Kurth T,
Ligthart L,
Terwindt GM,
Freilinger T,
Ran C,
Gordon SD,
Borck G,
Adams HHH,
Lehtimäki T,
Wedenoja J,
Buring JE,
Schürks M,
Hrafnsdottir M,
Hottenga JJ,
Penninx B,
Artto V,
Kaunisto M,
Vepsäläinen S,
Martin NG,
Montgomery GW,
Kurki MI,
Hämäläinen E,
Huang H,
Huang J,
Sandor C,
Webber C,
Muller-Myhsok B,
Schreiber S,
Salomaa V,
Loehrer E,
Göbel H,
Macaya A,
Pozo-Rosich P,
Hansen T,
Werge T,
Kaprio J,
Metspalu A,
Kubisch C,
Ferrari MD,
Belin AC,
van den Maagdenberg AMJM,
Zwart JA,
Boomsma D,
Eriksson N,
Olesen J,
Chasman DI,
Nyholt DR,
Avbersek A,
Baum L,
Berkovic S,
Bradfield J,
Buono RJ,
Catarino CB,
Cossette P,
De Jonghe P,
Depondt C,
Dlugos D,
Ferraro TN,
French J,
Hjalgrim H,
Jamnadas-Khoda J,
Kälviäinen R,
Kunz WS,
Lerche H,
Leu C,
Lindhout D,
Lo W,
Lowenstein D,
McCormack M,
Møller RS,
Molloy A,
Ng PW,
Oliver K,
Privitera M,
Radtke R,
Ruppert AK,
Sander T,
Schachter S,
Schankin C,
Scheffer I,
Schoch S,
Sisodiya SM,
Smith P,
Sperling M,
Striano P,
Surges R,
Thomas GN,
Visscher F,
Whelan CD,
Zara F,
Heinzen EL,
Marson A,
Becker F,
Stroink H,
Zimprich F,
Gasser T,
Gibbs R,
Heutink P,
Martinez M,
Morris HR,
Sharma M,
Ryten M,
Mok KY,
Pulit S,
Bevan S,
Holliday E,
Attia J,
Battey T,
Boncoraglio G,
Thijs V,
Chen WM,
Mitchell B,
Rothwell P,
Sharma P,
Sudlow C,
Vicente A,
Markus H,
Kourkoulis C,
Pera J,
Raffeld M,
Silliman S,
Boraska Perica V,
Thornton LM,
Huckins LM,
William Rayner N,
Lewis CM,
Gratacos M,
Rybakowski F,
Keski-Rahkonen A,
Raevuori A,
Hudson JI,
Reichborn-Kjennerud T,
Monteleone P,
Karwautz A,
Mannik K,
Baker JH,
O'Toole JK,
Trace SE,
Davis OSP,
Helder SG,
Ehrlich S,
Herpertz-Dahlmann B,
Danner UN,
van Elburg AA,
Clementi M,
Forzan M,
Docampo E,
Lissowska J,
Hauser J,
Tortorella A,
Maj M,
Gonidakis F,
Tziouvas K,
Papezova H,
Yilmaz Z,
Wagner G,
Cohen-Woods S,
Herms S,
Julià A,
Rabionet R,
Dick DM,
Ripatti S,
Andreassen OA,
Espeseth T,
Lundervold AJ,
Steen VM,
Pinto D,
Scherer SW,
Aschauer H,
Schosser A,
Alfredsson L,
Padyukov L,
Halmi KA,
Mitchell J,
Strober M,
Bergen AW,
Kaye W,
Szatkiewicz JP,
Cormand B,
Ramos-Quiroga JA,
Sánchez-Mora C,
Ribasés M,
Casas M,
Hervas A,
Arranz MJ,
Haavik J,
Zayats T,
Johansson S,
Williams N,
Dempfle A,
Rothenberger A,
Kuntsi J,
Oades RD,
Banaschewski T,
Franke B,
Buitelaar JK,
Arias Vasquez A,
Doyle AE,
Reif A,
Lesch KP,
Freitag C,
Rivero O,
Palmason H,
Romanos M,
Langley K,
Rietschel M,
Witt SH,
Dalsgaard S,
Børglum AD,
Waldman I,
Wilmot B,
Molly N,
Bau CHD,
Crosbie J,
Schachar R,
Loo SK,
McGough JJ,
Grevet EH,
Medland SE,
Robinson E,
Weiss LA,
Bacchelli E,
Bailey A,
Bal V,
Battaglia A,
Betancur C,
Bolton P,
Cantor R,
Celestino-Soper P,
Dawson G,
De Rubeis S,
Duque F,
Green A,
Klauck SM,
Leboyer M,
Levitt P,
Maestrini E,
Mane S,
De-Luca DM,
Parr J,
Regan R,
Reichenberg A,
Sandin S,
Vorstman J,
Wassink T,
Wijsman E,
Cook E,
Santangelo S,
Delorme R,
Rogé B,
Magalhaes T,
Arking D,
Schulze TG,
Thompson RC,
Strohmaier J,
Matthews K,
Melle I,
Morris D,
Blackwood D,
McIntosh A,
Bergen SE,
Schalling M,
Jamain S,
Maaser A,
Fischer SB,
Reinbold CS,
Fullerton JM,
Guzman-Parra J,
Mayoral F,
Schofield PR,
Cichon S,
Mühleisen TW,
Degenhardt F,
Schumacher J,
Bauer M,
Mitchell PB,
Gershon ES,
Rice J,
Potash JB,
Zandi PP,
Craddock N,
Ferrier IN,
Alda M,
Rouleau GA,
Turecki G,
Ophoff R,
Pato C,
Anjorin A,
Stahl E,
Leber M,
Czerski PM,
Cruceanu C,
Jones IR,
Posthuma D,
Andlauer TFM,
Forstner AJ,
Streit F,
Baune BT,
Air T,
Sinnamon G,
Wray NR,
MacIntyre DJ,
Porteous D,
Homuth G,
Rivera M,
Grove J,
Middeldorp CM,
Hickie I,
Pergadia M,
Mehta D,
Smit JH,
Jansen R,
de Geus E,
Dunn E,
Li QS,
Nauck M,
Schoevers RA,
Beekman AT,
Knowles JA,
Viktorin A,
Arnold P,
Barr CL,
Bedoya-Berrio G,
Bienvenu OJ,
Brentani H,
Burton C,
Camarena B,
Cappi C,
Cath D,
Cavallini M,
Cusi D,
Darrow S,
Denys D,
Derks EM,
Dietrich A,
Fernandez T,
Figee M,
Freimer N,
Gerber G,
Grados M,
Greenberg E,
Hanna GL,
Hartmann A,
Hirschtritt ME,
Hoekstra PJ,
Huang A,
Huyser C,
Illmann C,
Jenike M,
Kuperman S,
Leventhal B,
Lochner C,
Lyon GJ,
Macciardi F,
Madruga-Garrido M,
Malaty IA,
Maras A,
McGrath L,
Miguel EC,
Mir P,
Nestadt G,
Nicolini H,
Okun MS,
Pakstis A,
Paschou P,
Piacentini J,
Pittenger C,
Plessen K,
Ramensky V,
Ramos EM,
Reus V,
Richter MA,
Riddle MA,
Robertson MM,
Roessner V,
Rosário M,
Samuels JF,
Sandor P,
Stein DJ,
Tsetsos F,
Van Nieuwerburgh F,
Weatherall S,
Wendland JR,
Wolanczyk T,
Worbe Y,
Zai G,
Goes FS,
McLaughlin N,
Nestadt PS,
Grabe HJ,
Depienne C,
Konkashbaev A,
Lanzagorta N,
Valencia-Duarte A,
Bramon E,
Buccola N,
Cahn W,
Cairns M,
Chong SA,
Cohen D,
Crespo-Facorro B,
Crowley J,
Davidson M,
DeLisi L,
Dinan T,
Donohoe G,
Drapeau E,
Duan J,
Haan L,
Hougaard D,
Karachanak-Yankova S,
Khrunin A,
Klovins J,
Kučinskas V,
Lee Chee Keong J,
Limborska S,
Loughland C,
Lönnqvist J,
Maher B,
Mattheisen M,
McDonald C,
Murphy KC,
Nenadic I,
van Os J,
Pantelis C,
Pato M,
Petryshen T,
Quested D,
Roussos P,
Sanders AR,
Schall U,
Schwab SG,
Sim K,
So HC,
Stögmann E,
Subramaniam M,
Toncheva D,
Waddington J,
Walters J,
Weiser M,
Cheng W,
Cloninger R,
Curtis D,
Gejman PV,
Henskens F,
Mattingsdal M,
Oh SY,
Scott R,
Webb B,
Breen G,
Churchhouse C,
Bulik CM,
Daly M,
Dichgans M,
Faraone SV,
Guerreiro R,
Holmans P,
Kendler KS,
Koeleman B,
Mathews CA,
Price A,
Scharf J,
Sklar P,
Williams J,
Wood NW,
Cotsapas C,
Palotie A,
Smoller JW,
Sullivan P,
Rosand J,
Corvin A,
Neale BM,
Schott JM,
Anney R,
Elia J,
Grigoroiu-Serbanescu M,
Edenberg HJ,
Murray R</span><br />
<span class="medgenPMjournal">Science</span>
2018 Jun 22;360(6395)
doi: 10.1126/science.aap8757.
<span class="bold">PMID: </span><a href="/pubmed/29930110" target="_blank">29930110</a><a href="/pmc/articles/PMC6097237" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24983250">What is aortic overriding?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Anderson RH,
Spicer DE,
Henry GW,
Rigsby C,
Hlavacek AM,
Mohun TJ</span><br />
<span class="medgenPMjournal">Cardiol Young</span>
2015 Apr;25(4):612-25.
Epub 2014 Jul 1
doi: 10.1017/S1047951114001139.
<span class="bold">PMID: </span><a href="/pubmed/24983250" target="_blank">24983250</a></div>
<div class="nl"><a target="_blank" href="/pubmed/1623233">Paediatric neurosurgery.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">May PL</span><br />
<span class="medgenPMjournal">Curr Opin Neurol Neurosurg</span>
1992 Feb;5(1):25-9.
<span class="bold">PMID: </span><a href="/pubmed/1623233" target="_blank">1623233</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22CONGENITAL%20MYOPATHY%2025%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 (232)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/37268435">Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Karaa A,
Bertini E,
Carelli V,
Cohen BH,
Enns GM,
Falk MJ,
Goldstein A,
Gorman GS,
Haas R,
Hirano M,
Klopstock T,
Koenig MK,
Kornblum C,
Lamperti C,
Lehman A,
Longo N,
Molnar MJ,
Parikh S,
Phan H,
Pitceathly RDS,
Saneto R,
Scaglia F,
Servidei S,
Tarnopolsky M,
Toscano A,
Van Hove JLK,
Vissing J,
Vockley J,
Finman JS,
Brown DA,
Shiffer JA,
Mancuso M;
MMPOWER-3 Trial Investigators</span><br />
<span class="medgenPMjournal">Neurology</span>
2023 Jul 18;101(3):e238-e252.
Epub 2023 Jun 2
doi: 10.1212/WNL.0000000000207402.
<span class="bold">PMID: </span><a href="/pubmed/37268435" target="_blank">37268435</a><a href="/pmc/articles/PMC10382259" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34387523">Botulinum Toxin Type A in the Spasticity of Cerebral Palsy Related to Congenital Zika Syndrome: An Observational Study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Armani-Franceschi G,
Luz C,
Lucena PH,
d'Afonseca D,
Sales H,
Carvalho AL,
Siqueira IC,
Silva K,
Portuense S,
Monteiro L,
Bandeira ID,
Melo A,
Lucena R</span><br />
<span class="medgenPMjournal">Dev Neurorehabil</span>
2022 Apr;25(3):162-169.
Epub 2021 Aug 13
doi: 10.1080/17518423.2021.1960917.
<span class="bold">PMID: </span><a href="/pubmed/34387523" target="_blank">34387523</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30374244">Fontan Failure Secondary to Charcot-Marie-Tooth-Induced Phrenic Neuropathy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Abdul TY,
Schneider AE,
Cetta F,
Driscoll DJ</span><br />
<span class="medgenPMjournal">Tex Heart Inst J</span>
2018 Aug;45(4):270-272.
Epub 2018 Aug 1
doi: 10.14503/THIJ-17-6337.
<span class="bold">PMID: </span><a href="/pubmed/30374244" target="_blank">30374244</a><a href="/pmc/articles/PMC6183634" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16189317">Rotational osteotomies for congenital radioulnar synostosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ramachandran M,
Lau K,
Jones DH</span><br />
<span class="medgenPMjournal">J Bone Joint Surg Br</span>
2005 Oct;87(10):1406-10.
doi: 10.1302/0301-620X.87B10.16445.
<span class="bold">PMID: </span><a href="/pubmed/16189317" target="_blank">16189317</a></div>
<div class="nl"><a target="_blank" href="/pubmed/12972815">Successful treatment of life-threatening generalized infantile myofibromatosis using low-dose chemotherapy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gandhi MM,
Nathan PC,
Weitzman S,
Levitt GA</span><br />
<span class="medgenPMjournal">J Pediatr Hematol Oncol</span>
2003 Sep;25(9):750-4.
doi: 10.1097/00043426-200309000-00016.
<span class="bold">PMID: </span><a href="/pubmed/12972815" target="_blank">12972815</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22CONGENITAL%20MYOPATHY%2025%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 (59)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38636626">Prevalence and Predictors of Readmissions in Patients With Hypertrophic Cardiomyopathy and Atrial Fibrillation/Flutter.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Almani MU,
Talha KM,
Khan LA,
Hameed I,
Asad ZUA,
Fudim M,
Krasuski R,
Khan MS</span><br />
<span class="medgenPMjournal">Am J Cardiol</span>
2024 Jul 1;222:29-34.
Epub 2024 Apr 16
doi: 10.1016/j.amjcard.2024.04.009.
<span class="bold">PMID: </span><a href="/pubmed/38636626" target="_blank">38636626</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21496624">Congenital muscular dystrophies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sparks SE,
Escolar DM</span><br />
<span class="medgenPMjournal">Handb Clin Neurol</span>
2011;101:47-79.
doi: 10.1016/B978-0-08-045031-5.00004-9.
<span class="bold">PMID: </span><a href="/pubmed/21496624" target="_blank">21496624</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17504518">Central core disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Jungbluth H</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2007 May 15;2:25.
doi: 10.1186/1750-1172-2-25.
<span class="bold">PMID: </span><a href="/pubmed/17504518" target="_blank">17504518</a><a href="/pmc/articles/PMC1887524" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16294135">Calcaneocuboid fusion in children undergoing talectomy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pirpiris M,
Ching DE,
Kuhns CA,
Otsuka NY</span><br />
<span class="medgenPMjournal">J Pediatr Orthop</span>
2005 Nov-Dec;25(6):777-80.
doi: 10.1097/01.bpo.0000173247.19808.f7.
<span class="bold">PMID: </span><a href="/pubmed/16294135" target="_blank">16294135</a></div>
<div class="nl"><a target="_blank" href="/pubmed/11677526">Prosthodontics for pediatric patients with congenital/developmental orofacial anomalies: a long-term follow-up.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vergo TJ Jr</span><br />
<span class="medgenPMjournal">J Prosthet Dent</span>
2001 Oct;86(4):342-7.
doi: 10.1067/mpr.2001.118877.
<span class="bold">PMID: </span><a href="/pubmed/11677526" target="_blank">11677526</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22CONGENITAL%20MYOPATHY%2025%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 (115)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/37268435">Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Karaa A,
Bertini E,
Carelli V,
Cohen BH,
Enns GM,
Falk MJ,
Goldstein A,
Gorman GS,
Haas R,
Hirano M,
Klopstock T,
Koenig MK,
Kornblum C,
Lamperti C,
Lehman A,
Longo N,
Molnar MJ,
Parikh S,
Phan H,
Pitceathly RDS,
Saneto R,
Scaglia F,
Servidei S,
Tarnopolsky M,
Toscano A,
Van Hove JLK,
Vissing J,
Vockley J,
Finman JS,
Brown DA,
Shiffer JA,
Mancuso M;
MMPOWER-3 Trial Investigators</span><br />
<span class="medgenPMjournal">Neurology</span>
2023 Jul 18;101(3):e238-e252.
Epub 2023 Jun 2
doi: 10.1212/WNL.0000000000207402.
<span class="bold">PMID: </span><a href="/pubmed/37268435" target="_blank">37268435</a><a href="/pmc/articles/PMC10382259" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36233295">Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gurgel-Giannetti J,
Souza LS,
Yamamoto GL,
Belisario M,
Lazar M,
Campos W,
Pavanello RCM,
Zatz M,
Reed U,
Zanoteli E,
Oliveira AB,
Lehtokari VL,
Casella EB,
Machado-Costa MC,
Wallgren-Pettersson C,
Laing NG,
Nigro V,
Vainzof M</span><br />
<span class="medgenPMjournal">Int J Mol Sci</span>
2022 Oct 9;23(19)
doi: 10.3390/ijms231911995.
<span class="bold">PMID: </span><a href="/pubmed/36233295" target="_blank">36233295</a><a href="/pmc/articles/PMC9569467" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34387523">Botulinum Toxin Type A in the Spasticity of Cerebral Palsy Related to Congenital Zika Syndrome: An Observational Study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Armani-Franceschi G,
Luz C,
Lucena PH,
d'Afonseca D,
Sales H,
Carvalho AL,
Siqueira IC,
Silva K,
Portuense S,
Monteiro L,
Bandeira ID,
Melo A,
Lucena R</span><br />
<span class="medgenPMjournal">Dev Neurorehabil</span>
2022 Apr;25(3):162-169.
Epub 2021 Aug 13
doi: 10.1080/17518423.2021.1960917.
<span class="bold">PMID: </span><a href="/pubmed/34387523" target="_blank">34387523</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28879884">Global muscular dystrophy research: A 25-year bibliometric perspective.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ram S</span><br />
<span class="medgenPMjournal">Neurol India</span>
2017 Sep-Oct;65(5):993-1000.
doi: 10.4103/neuroindia.NI_1241_16.
<span class="bold">PMID: </span><a href="/pubmed/28879884" target="_blank">28879884</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26310427">GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Jensen BS,
Willer T,
Saade DN,
Cox MO,
Mozaffar T,
Scavina M,
Stefans VA,
Winder TL,
Campbell KP,
Moore SA,
Mathews KD</span><br />
<span class="medgenPMjournal">Hum Mutat</span>
2015 Dec;36(12):1159-63.
Epub 2015 Sep 23
doi: 10.1002/humu.22898.
<span class="bold">PMID: </span><a href="/pubmed/26310427" target="_blank">26310427</a><a href="/pmc/articles/PMC4843780" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22CONGENITAL%20MYOPATHY%2025%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 (116)</a></div></div>
</div>
<div class="portlet mgSection" id="ID_104">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">
<div class="nl"><a target="_blank" href="/pubmed/36625789">Bisphosphonates for osteoporosis in people with cystic fibrosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Jeffery TC,
Chang AB,
Conwell LS</span><br />
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
2023 Jan 10;1(1):CD002010.
doi: 10.1002/14651858.CD002010.pub5.
<span class="bold">PMID: </span><a href="/pubmed/36625789" target="_blank">36625789</a><a href="/pmc/articles/PMC9831115" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35862363">Quality of instruments assessing activity and participation of people with muscular dystrophy: A systematic review of participant-reported outcome measures.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Andrade KKS,
Soares LA,
Macedo CC,
Bispo NR,
Sousa Junior RR,
Oliveira VC,
Leite HR,
Gaiad TP</span><br />
<span class="medgenPMjournal">Dev Med Child Neurol</span>
2022 Dec;64(12):1453-1461.
Epub 2022 Jul 21
doi: 10.1111/dmcn.15345.
<span class="bold">PMID: </span><a href="/pubmed/35862363" target="_blank">35862363</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30950905">Resistance towards nondepolarising muscle relaxants: prolonged onset time: A systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mørk EL,
Kristensen ML,
Stokholm JB,
Söderström CM,
Madsen MV,
Gätke MR</span><br />
<span class="medgenPMjournal">Eur J Anaesthesiol</span>
2019 Jul;36(7):477-485.
doi: 10.1097/EJA.0000000000000991.
<span class="bold">PMID: </span><a href="/pubmed/30950905" target="_blank">30950905</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25117413">Interventions for congenital talipes equinovarus (clubfoot).</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gray K,
Pacey V,
Gibbons P,
Little D,
Burns J</span><br />
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
2014 Aug 12;2014(8):CD008602.
doi: 10.1002/14651858.CD008602.pub3.
<span class="bold">PMID: </span><a href="/pubmed/25117413" target="_blank">25117413</a><a href="/pmc/articles/PMC7173730" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20033223">Hypokalemic rhabdomyolysis in congenital tubular disorders: a case series and a systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">von Vigier RO,
Ortisi MT,
La Manna A,
Bianchetti MG,
Bettinelli A</span><br />
<span class="medgenPMjournal">Pediatr Nephrol</span>
2010 May;25(5):861-6.
Epub 2009 Dec 22
doi: 10.1007/s00467-009-1388-2.
<span class="bold">PMID: </span><a href="/pubmed/20033223" target="_blank">20033223</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22CONGENITAL%20MYOPATHY%2025%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 (6)</a></div></div>
</div>
</div></div></div></div></div></div></div>
<div id="messagearea_bottom">
</div>
<div class=" bottom">
</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>
</div>
<div class="portlet mgSection" id="ID_119">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=620964" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=CONGENITAL%20MYOPATHY%2025" target="_blank">ClinicalTrials.gov</a></li></ul></div>
</div>
<div class="portlet mgSection" id="ID_121">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(congenital%20myopathy%2025)%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>
</div>
<div class="portlet mgSection" id="ID_115">
<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>
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=605266" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=56704[geneid]" target="_blank">View JPH1 variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=620964" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
</div>
<div class="portlet mgSection" id="ID_116">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&amp;query=CONGENITAL%20MYOPATHY%2025" target="_blank">MedlinePlus</a></li></ul></div>
</div>
</div>
<div class="portlet brieflink">
<div class="portlet_head">
<div class="portlet_title">
<h3>Reviews</h3>
</div>
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
</div>
<div class="portlet_content">
<ul>
<li>
<a href="/pubmed/clinical?term=CONGENITAL%20MYOPATHY%2025" ref="ncbi_uid=&amp;discoId=gtr_reviews&amp;linkpos=1&amp;linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
</li>
<li>
<a href="/pubmed?term=CONGENITAL%20MYOPATHY%2025%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&amp;discoId=gtr_reviews&amp;linkpos=2&amp;linkpostotal=2" target="_blank">Reviews in PubMed</a>
</li>
</ul>
</div>
</div>
<!-- MedGen supplemental column ends here -->
<div class="portlet brieflink">
<div class="portlet_head">
<div class="portlet_title">
<h3>Related information</h3>
</div>
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
</div>
<div class="portlet_content DiscoveryDbLinks">
<ul>
<li class="brieflinkpopper">
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=1054399" ref="log$=recordlinks">ClinVar</a>
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
</li>
<li class="brieflinkpopper">
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&amp;from_uid=1054399" ref="log$=recordlinks">Gene</a>
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
</li>
<li class="brieflinkpopper">
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&amp;from_uid=1054399" ref="log$=recordlinks">OMIM</a>
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
</li>
<li class="brieflinkpopper">
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&amp;from_uid=1054399" ref="log$=recordlinks">OMIM(Genes)</a>
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
</li>
<li class="brieflinkpopper">
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&amp;from_uid=1054399" ref="log$=recordlinks">PMC Articles</a>
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
</li>
<li class="brieflinkpopper">
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&amp;from_uid=1054399" ref="log$=recordlinks">PubMed</a>
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
</li>
</ul>
</div>
</div>
<div class="portlet">
<div class="portlet_head">
<div class="portlet_title">
<h3>Recent activity</h3>
</div>
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
</div>
<div class="portlet_content">
<div id="HTDisplay" class="">
<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
<div class="action">
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&amp;" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
Clear
</a>
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&amp;" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
Turn Off
</a>
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="2" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOff" cmd="HTOn" href="?cmd=HTOn&amp;" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
Turn On
</a>
</div>
<ul id="activity">
<li class="ra_rcd ralinkpopper two_line">
<a class="htb ralinkpopperctrl" ref="log$=activity&amp;linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cd1a6c84f3725e593280f9">CONGENITAL MYOPATHY 25</a>
<div class="ralinkpop offscreen_noflow">CONGENITAL MYOPATHY 25<div class="brieflinkpopdesc"></div></div>
<div class="tertiary">MedGen</div>
</li>
<li class="ra_qry two_line">
<a class="htb" ref="log$=activity&amp;linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67cd1a6ab15b832ebcf46a06">CN378548[conceptid] <span class="number">(1)</span></a>
<div class="tertiary">MedGen</div>
</li>
<li class="ra_qry ralinkpopper two_line">
<a class="htb ralinkpopperctrl" ref="log$=activity&amp;linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67cd1a69b15b832ebcf46787">"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf, MODIFIER OF"[Dis... <span class="number">(1)</span></a>
<div class="ralinkpop offscreen_noflow">"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf, MODIFIER OF"[Disease/phenotype] AND "OMIM"[submitter]<div class="brieflinkpopdesc">Search</div></div>
<div class="tertiary">ClinVar</div>
</li>
<li class="ra_qry two_line">
<a class="htb" ref="log$=activity&amp;linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67cd1a68a68b6b5afc6ea3c5">CN378697[trait identifier] AND "OMIM"[submitter] <span class="number">(1)</span></a>
<div class="tertiary">ClinVar</div>
</li>
<li class="ra_rcd ralinkpopper two_line">
<a class="htb ralinkpopperctrl" ref="log$=activity&amp;linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67cd1a6784f3725e5932627c">CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1DD</a>
<div class="ralinkpop offscreen_noflow">CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1DD<div class="brieflinkpopdesc"></div></div>
<div class="tertiary">MedGen</div>
</li>
</ul>
<p class="HTOn">Your browsing activity is empty.</p>
<p class="HTOff">Activity recording is turned off.</p>
<p id="turnOn" class="HTOff">
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryOn" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryOn" cmd="HTOn" href="?cmd=HTOn&amp;" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryOn">Turn recording back on</a>
</p>
<a class="seemore" href="/sites/myncbi/recentactivity">See more...</a>
</div>
</div>
</div>
</div>
</div>
<div id="NCBIFooter_dynamic">
<!--<component id="NCBIBreadcrumbs"/>
<component id="NCBIHelpDesk"/>-->
<noscript><img alt="" src="/stat?jsdisabled=true&amp;ncbi_app=entrez&amp;ncbi_db=medgen&amp;ncbi_pdid=FullReport&amp;ncbi_phid=CE8E212C7CD16D510000000000400035" /></noscript>
</div>
<div xmlns="http://www.w3.org/1999/xhtml" class="footer" id="footer" xml:base="http://127.0.0.1/sites/static/header_footer/">
<section class="icon-section">
<div id="icon-section-header" class="icon-section_header">Follow NCBI</div>
<div class="grid-container container">
<div class="icon-section_container">
<a class="footer-icon" id="footer_twitter" href="https://twitter.com/ncbi" aria-label="Twitter">
<svg xmlns="http://www.w3.org/2000/svg" width="40" height="40" viewBox="0 0 40 40" fill="none">
<title>Twitter</title>
<g id="twitterx1008">
<path id="path1008" d="M6.06736 7L16.8778 20.8991L6.00001 32.2H10.2L18.6 23.1L25.668 32.2H34L22.8 17.5L31.9 7H28.4L20.7 15.4L14.401 7H6.06898H6.06736ZM9.66753 8.73423H12.9327L29.7327 30.4658H26.5697L9.66753 8.73423Z" fill="#5B616B"></path>
</g>
</svg>
</a>
<a class="footer-icon" id="footer_facebook" href="https://www.facebook.com/ncbi.nlm" aria-label="Facebook"><svg xmlns="http://www.w3.org/2000/svg" data-name="Layer 1" viewBox="0 0 300 300">
<title>Facebook</title>
<path class="cls-11" d="M210.5,115.12H171.74V97.82c0-8.14,5.39-10,9.19-10h27.14V52l-39.32-.12c-35.66,0-42.42,26.68-42.42,43.77v19.48H99.09v36.32h27.24v109h45.41v-109h35Z">
</path>
</svg></a>
<a class="footer-icon" id="footer_linkedin" href="https://www.linkedin.com/company/ncbinlm" aria-label="LinkedIn"><svg xmlns="http://www.w3.org/2000/svg" data-name="Layer 1" viewBox="0 0 300 300">
<title>LinkedIn</title>
<path class="cls-11" d="M101.64,243.37H57.79v-114h43.85Zm-22-131.54h-.26c-13.25,0-21.82-10.36-21.82-21.76,0-11.65,8.84-21.15,22.33-21.15S101.7,78.72,102,90.38C102,101.77,93.4,111.83,79.63,111.83Zm100.93,52.61A17.54,17.54,0,0,0,163,182v61.39H119.18s.51-105.23,0-114H163v13a54.33,54.33,0,0,1,34.54-12.66c26,0,44.39,18.8,44.39,55.29v58.35H198.1V182A17.54,17.54,0,0,0,180.56,164.44Z">
</path>
</svg></a>
<a class="footer-icon" id="footer_github" href="https://github.com/ncbi" aria-label="GitHub"><svg xmlns="http://www.w3.org/2000/svg" data-name="Layer 1" viewBox="0 0 300 300">
<defs>
<style>
.cls-11,
.cls-12 {
fill: #737373;
}
.cls-11 {
fill-rule: evenodd;
}
</style>
</defs>
<title>GitHub</title>
<path class="cls-11" d="M151.36,47.28a105.76,105.76,0,0,0-33.43,206.1c5.28,1,7.22-2.3,7.22-5.09,0-2.52-.09-10.85-.14-19.69-29.42,6.4-35.63-12.48-35.63-12.48-4.81-12.22-11.74-15.47-11.74-15.47-9.59-6.56.73-6.43.73-6.43,10.61.75,16.21,10.9,16.21,10.9,9.43,16.17,24.73,11.49,30.77,8.79,1-6.83,3.69-11.5,6.71-14.14C108.57,197.1,83.88,188,83.88,147.51a40.92,40.92,0,0,1,10.9-28.39c-1.1-2.66-4.72-13.42,1-28,0,0,8.88-2.84,29.09,10.84a100.26,100.26,0,0,1,53,0C198,88.3,206.9,91.14,206.9,91.14c5.76,14.56,2.14,25.32,1,28a40.87,40.87,0,0,1,10.89,28.39c0,40.62-24.74,49.56-48.29,52.18,3.79,3.28,7.17,9.71,7.17,19.58,0,14.15-.12,25.54-.12,29,0,2.82,1.9,6.11,7.26,5.07A105.76,105.76,0,0,0,151.36,47.28Z">
</path>
<path class="cls-12" d="M85.66,199.12c-.23.52-1.06.68-1.81.32s-1.2-1.06-.95-1.59,1.06-.69,1.82-.33,1.21,1.07.94,1.6Zm-1.3-1">
</path>
<path class="cls-12" d="M90,203.89c-.51.47-1.49.25-2.16-.49a1.61,1.61,0,0,1-.31-2.19c.52-.47,1.47-.25,2.17.49s.82,1.72.3,2.19Zm-1-1.08">
</path>
<path class="cls-12" d="M94.12,210c-.65.46-1.71,0-2.37-.91s-.64-2.07,0-2.52,1.7,0,2.36.89.65,2.08,0,2.54Zm0,0"></path>
<path class="cls-12" d="M99.83,215.87c-.58.64-1.82.47-2.72-.41s-1.18-2.06-.6-2.7,1.83-.46,2.74.41,1.2,2.07.58,2.7Zm0,0">
</path>
<path class="cls-12" d="M107.71,219.29c-.26.82-1.45,1.2-2.64.85s-2-1.34-1.74-2.17,1.44-1.23,2.65-.85,2,1.32,1.73,2.17Zm0,0">
</path>
<path class="cls-12" d="M116.36,219.92c0,.87-1,1.59-2.24,1.61s-2.29-.68-2.3-1.54,1-1.59,2.26-1.61,2.28.67,2.28,1.54Zm0,0">
</path>
<path class="cls-12" d="M124.42,218.55c.15.85-.73,1.72-2,1.95s-2.37-.3-2.52-1.14.73-1.75,2-2,2.37.29,2.53,1.16Zm0,0"></path>
</svg></a>
<a class="footer-icon" id="footer_blog" href="https://ncbiinsights.ncbi.nlm.nih.gov/" aria-label="Blog">
<svg xmlns="http://www.w3.org/2000/svg" id="Layer_1" data-name="Layer 1" viewBox="0 0 40 40">
<defs><style>.cls-1{fill:#737373;}</style></defs>
<title>NCBI Insights Blog</title>
<path class="cls-1" d="M14,30a4,4,0,1,1-4-4,4,4,0,0,1,4,4Zm11,3A19,19,0,0,0,7.05,15a1,1,0,0,0-1,1v3a1,1,0,0,0,.93,1A14,14,0,0,1,20,33.07,1,1,0,0,0,21,34h3a1,1,0,0,0,1-1Zm9,0A28,28,0,0,0,7,6,1,1,0,0,0,6,7v3a1,1,0,0,0,1,1A23,23,0,0,1,29,33a1,1,0,0,0,1,1h3A1,1,0,0,0,34,33Z"></path>
</svg>
</a>
</div>
</div>
</section>
<section class="container-fluid bg-primary">
<div class="container pt-5">
<div class="row mt-3">
<div class="col-lg-3 col-12">
<p><a class="text-white" href="https://www.nlm.nih.gov/socialmedia/index.html">Connect with NLM</a></p>
<ul class="list-inline social_media">
<li class="list-inline-item"><a href="https://twitter.com/NLM_NIH" aria-label="Twitter" target="_blank" rel="noopener noreferrer">
<svg xmlns="http://www.w3.org/2000/svg" width="35" height="35" viewBox="0 0 36 35" fill="none">
<title>Twitter</title>
<g id="twitterx1009" clip-path="url(#clip0_65276_3946)">
<path id="Vector_Twitter" d="M17.5006 34.6565C26.9761 34.6565 34.6575 26.9751 34.6575 17.4996C34.6575 8.02416 26.9761 0.342773 17.5006 0.342773C8.02514 0.342773 0.34375 8.02416 0.34375 17.4996C0.34375 26.9751 8.02514 34.6565 17.5006 34.6565Z" fill="#205493" stroke="white" stroke-width="1.0" stroke-miterlimit="10"></path>
<path id="path1009" d="M8.54811 8.5L16.2698 18.4279L8.50001 26.5H11.5L17.5 20L22.5486 26.5H28.5L20.5 16L27 8.5H24.5L19 14.5L14.5007 8.5H8.54927H8.54811ZM11.1197 9.73873H13.4519L25.4519 25.2613H23.1926L11.1197 9.73873Z" fill="white"></path>
</g>
<defs>
<clipPath id="clip0_65276_3946">
<rect width="35" height="35" fill="white"></rect>
</clipPath>
</defs>
</svg>
</a></li>
<li class="list-inline-item"><a href="https://www.facebook.com/nationallibraryofmedicine" aria-label="Facebook" rel="noopener noreferrer" target="_blank">
<svg xmlns="http://www.w3.org/2000/svg" width="35" height="35" viewBox="0 0 36 35" fill="none">
<title>Facebook</title>
<g id="Facebook" clip-path="url(#clip0_1717_1086)">
<path id="Vector_Facebook" d="M15.1147 29.1371C15.1147 29.0822 15.1147 29.0296 15.1147 28.9747V18.9414H11.8183C11.6719 18.9414 11.6719 18.9414 11.6719 18.8018C11.6719 17.5642 11.6719 16.3289 11.6719 15.0937C11.6719 14.9793 11.7062 14.9518 11.816 14.9518C12.8683 14.9518 13.9206 14.9518 14.9751 14.9518H15.1215V14.8329C15.1215 13.8057 15.1215 12.774 15.1215 11.7492C15.1274 10.9262 15.3148 10.1146 15.6706 9.37241C16.1301 8.38271 16.9475 7.60378 17.9582 7.19235C18.6492 6.90525 19.3923 6.76428 20.1405 6.7783C21.0029 6.79202 21.8653 6.83091 22.7278 6.86065C22.8879 6.86065 23.048 6.89496 23.2082 6.90182C23.2974 6.90182 23.3271 6.94071 23.3271 7.02993C23.3271 7.54235 23.3271 8.05477 23.3271 8.5649C23.3271 9.16882 23.3271 9.77274 23.3271 10.3767C23.3271 10.4819 23.2974 10.5139 23.1921 10.5116C22.5379 10.5116 21.8814 10.5116 21.2271 10.5116C20.9287 10.5184 20.6316 10.5528 20.3395 10.6146C20.0822 10.6619 19.8463 10.7891 19.6653 10.9779C19.4842 11.1668 19.3672 11.4078 19.3307 11.6669C19.2857 11.893 19.2612 12.1226 19.2575 12.3531C19.2575 13.1904 19.2575 14.0299 19.2575 14.8695C19.2575 14.8946 19.2575 14.9198 19.2575 14.9564H23.0229C23.1807 14.9564 23.183 14.9564 23.1624 15.1074C23.0778 15.7662 22.9885 16.425 22.9039 17.0816C22.8322 17.6321 22.7636 18.1827 22.698 18.7332C22.6729 18.9437 22.6797 18.9437 22.4693 18.9437H19.2644V28.8992C19.2644 28.9793 19.2644 29.0593 19.2644 29.1394L15.1147 29.1371Z" fill="white"></path>
<path id="Vector_2_Facebook" d="M17.5006 34.657C26.9761 34.657 34.6575 26.9756 34.6575 17.5001C34.6575 8.02465 26.9761 0.343262 17.5006 0.343262C8.02514 0.343262 0.34375 8.02465 0.34375 17.5001C0.34375 26.9756 8.02514 34.657 17.5006 34.657Z" stroke="white" stroke-width="1.0" stroke-miterlimit="10"></path>
</g>
<defs>
<clipPath id="clip0_1717_1086">
<rect width="35" height="35" fill="white"></rect>
</clipPath>
</defs>
</svg>
</a></li>
<li class="list-inline-item"><a href="https://www.youtube.com/user/NLMNIH" aria-label="Youtube" target="_blank" rel="noopener noreferrer">
<svg xmlns="http://www.w3.org/2000/svg" width="35" height="35" viewBox="0 0 36 35" fill="none">
<title>Youtube</title>
<g id="YouTube" clip-path="url(#clip0_1717_1101)">
<path id="Vector_Youtube" d="M26.2571 11.4791C25.9025 11.1589 25.5709 10.9576 24.228 10.834C22.5512 10.6785 20.2797 10.6556 18.564 10.6533H16.4365C14.7208 10.6533 12.4493 10.6785 10.7725 10.834C9.43196 10.9576 9.09798 11.1589 8.7434 11.4791C7.81464 12.321 7.6202 14.6268 7.59961 16.8938C7.59961 17.3178 7.59961 17.741 7.59961 18.1635C7.62706 20.4121 7.82837 22.686 8.7434 23.521C9.09798 23.8412 9.42967 24.0425 10.7725 24.1661C12.4493 24.3216 14.7208 24.3445 16.4365 24.3468H18.564C20.2797 24.3468 22.5512 24.3216 24.228 24.1661C25.5686 24.0425 25.9025 23.8412 26.2571 23.521C27.1722 22.6929 27.3735 20.451 27.4009 18.2206C27.4009 17.7402 27.4009 17.2599 27.4009 16.7795C27.3735 14.5491 27.1699 12.3072 26.2571 11.4791ZM15.5604 20.5311V14.652L20.561 17.5001L15.5604 20.5311Z" fill="white"></path>
<path id="Vector_2_Youtube" d="M17.5006 34.657C26.9761 34.657 34.6575 26.9756 34.6575 17.5001C34.6575 8.02465 26.9761 0.343262 17.5006 0.343262C8.02514 0.343262 0.34375 8.02465 0.34375 17.5001C0.34375 26.9756 8.02514 34.657 17.5006 34.657Z" stroke="white" stroke-width="1.0" stroke-miterlimit="10"></path>
</g>
<defs>
<clipPath id="clip0_1717_1101">
<rect width="35" height="35" fill="white"></rect>
</clipPath>
</defs>
</svg>
</a></li>
</ul>
</div>
<div class="col-lg-3 col-12">
<p class="address_footer text-white">National Library of Medicine<br />
<a href="https://www.google.com/maps/place/8600+Rockville+Pike,+Bethesda,+MD+20894/@38.9959508,-77.101021,17z/data=!3m1!4b1!4m5!3m4!1s0x89b7c95e25765ddb:0x19156f88b27635b8!8m2!3d38.9959508!4d-77.0988323" class="text-white" target="_blank" rel="noopener noreferrer">8600 Rockville Pike<br />
Bethesda, MD 20894</a></p>
</div>
<div class="col-lg-3 col-12 centered-lg">
<p><a href="https://www.nlm.nih.gov/web_policies.html" class="text-white">Web Policies</a><br />
<a href="https://www.nih.gov/institutes-nih/nih-office-director/office-communications-public-liaison/freedom-information-act-office" class="text-white">FOIA</a><br />
<a href="https://www.hhs.gov/vulnerability-disclosure-policy/index.html" class="text-white" id="vdp">HHS Vulnerability Disclosure</a></p>
</div>
<div class="col-lg-3 col-12 centered-lg">
<p><a class="supportLink text-white" href="https://support.nlm.nih.gov/">Help</a><br />
<a href="https://www.nlm.nih.gov/accessibility.html" class="text-white">Accessibility</a><br />
<a href="https://www.nlm.nih.gov/careers/careers.html" class="text-white">Careers</a></p>
</div>
</div>
<div class="row">
<div class="col-lg-12 centered-lg">
<nav class="bottom-links">
<ul class="mt-3">
<li>
<a class="text-white" href="//www.nlm.nih.gov/">NLM</a>
</li>
<li>
<a class="text-white" href="https://www.nih.gov/">NIH</a>
</li>
<li>
<a class="text-white" href="https://www.hhs.gov/">HHS</a>
</li>
<li>
<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
</li>
</ul>
</nav>
</div>
</div>
</div>
</section>
<script type="text/javascript" src="/portal/portal3rc.fcgi/rlib/js/InstrumentOmnitureBaseJS/InstrumentNCBIConfigJS/InstrumentNCBIBaseJS/InstrumentPageStarterJS.js?v=1"> </script>
<script type="text/javascript" src="/portal/portal3rc.fcgi/static/js/hfjs2.js"> </script>
</div>
</div>
<div><input name="EntrezSystem2.PEntrez.DbConnector.Db" sid="1" type="hidden" value="medgen" /><input name="EntrezSystem2.PEntrez.DbConnector.LastDb" sid="1" type="hidden" value="medgen" /><input name="EntrezSystem2.PEntrez.DbConnector.Term" sid="1" type="hidden" value="CN378548[conceptid]" /><input name="EntrezSystem2.PEntrez.DbConnector.LastTabCmd" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.DbConnector.LastQueryKey" sid="1" type="hidden" value="37468" /><input name="EntrezSystem2.PEntrez.DbConnector.IdsFromResult" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.DbConnector.LastIdsFromResult" sid="1" type="hidden" value="" /><input name="EntrezSystem2.PEntrez.DbConnector.LinkName" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.DbConnector.LinkReadableName" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.DbConnector.LinkSrcDb" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.DbConnector.Cmd" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.DbConnector.TabCmd" sid="1" type="hidden" /><input name="EntrezSystem2.PEntrez.DbConnector.QueryKey" sid="1" type="hidden" /></div>
<input type="hidden" name="p$a" id="p$a" /><input type="hidden" name="p$l" id="p$l" value="EntrezSystem2" /><input type="hidden" name="p$st" id="p$st" value="medgen" /><input name="SessionId" id="SessionId" value="CE8B5AF87C7FFCB1_0191SID" disabled="disabled" type="hidden" /><input name="Snapshot" id="Snapshot" value="/projects/Phenotype/MedGen/MedGen@6.14" disabled="disabled" type="hidden" /></form>
</div>
</div>
<!-- CE8B5AF87C7FFCB1_0191SID /projects/Phenotype/MedGen/MedGen@6.14 portal107 v4.1.r689238 Tue, Oct 22 2024 16:10:51 -->
<span id="portal-csrf-token" style="display:none" data-token="CE8B5AF87C7FFCB1_0191SID"></span>
<script type='text/javascript' src='/portal/js/portal.js'></script><script type="text/javascript" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/js/4221766/3812534/4212053/3812535/3781605/4186313/2499590/3758627/4078478/3908752/3423/4018706/3891418/4212356/4078480/4078479/4025341/4076482/31971/35962/2733373/33966/3397055/4001808.js" snapshot="medgen"></script></body>
</html>
Reference in a new issue View git blame Copy permalink