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<meta name="keywords" content="C1832560, autosomal dominant limb-girdle muscular dystrophy caused by mutation in cav3, cav3, cav3 autosomal dominant limb-girdle muscular dystrophy, cav3 rippling muscle disease, cav3-related rippling muscle disease, disease or syndrome, lgmd1c, lgmd1c, formerly, limb-girdle muscular dystrophy due to caveolin-3 deficiency, limb-girdle muscular dystrophy type 1c, limb-girdle muscular dystrophy, type 1c, muscular dystrophy limb-girdle type ic, muscular dystrophy, limb-girdle, type 1c, muscular dystrophy, limb-girdle, type 1c, formerly, muscular dystrophy, limb-girdle, type ic, rippling muscle disease 2, rippling muscle disease caused by mutation in cav3, rippling muscle disease type 2, rmd2, 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="Hereditary rippling muscle disease is an autosomal dominant disorder characterized by mechanically triggered contractions of skeletal muscle. In rippling muscle disease, mechanical stimulation leads to electrically silent muscle contractions that spread to neighboring fibers that cause visible ripples to move over the muscle. RMD is usually inherited as an autosomal dominant trait, but autosomal recessive inheritance has also been reported (Kubisch et al., 2005). Genetic Heterogeneity of Rippling Muscle Disease Another locus for RMD, designated RMD1 (600332), maps to chromosome 1q41." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=371357
|
||
ConceptID=C1832560
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Rippling muscle disease 2<span class="h1sub">(RMD2)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>371357</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1832560</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>CAV3-Related Rippling Muscle Disease; Limb-girdle muscular dystrophy, type 1C; RMD2</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="CAV3 - ID: 859 - NCBI Gene" href="/gene/859" class="medgenPMinfo">CAV3</a> (3p25.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0019947" target="_blank">MONDO:0019947</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/606072" target="_blank">606072</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Hereditary rippling muscle disease is an autosomal dominant disorder characterized by mechanically triggered contractions of skeletal muscle. In rippling muscle disease, mechanical stimulation leads to electrically silent muscle contractions that spread to neighboring fibers that cause visible ripples to move over the muscle. RMD is usually inherited as an autosomal dominant trait, but autosomal recessive inheritance has also been reported (Kubisch et al., 2005). Genetic Heterogeneity of Rippling Muscle Disease Another locus for RMD, designated RMD1 (600332), maps to chromosome 1q41. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
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<div class="portlet mgSection" id="ID_117">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Rippling muscle disease is a condition in which the muscles are unusually sensitive to movement or pressure (irritable). The muscles near the center of the body (proximal muscles) are most affected, especially the thighs. In most people with this condition, stretching the muscle causes visible ripples to spread across the muscle, lasting 5 to 20 seconds. A bump or other sudden impact on the muscle causes it to bunch up (percussion-induced muscle mounding) or exhibit repetitive tensing (percussion-induced rapid contraction). The rapid contractions can continue for up to 30 seconds and may be painful.<br /><br />People with rippling muscle disease may have overgrowth (hypertrophy) of some muscles, especially in the calf. Some affected individuals have an abnormal pattern of walking (gait), such as walking on tiptoe. They may experience fatigue, cramps, or muscle stiffness, especially after exercise or in cold temperatures.<br /><br />The age of onset of rippling muscle disease varies widely, but it often begins in late childhood or adolescence. Rippling muscles may also occur as a feature of other muscle disorders such as limb-girdle muscular dystrophy. <a target="_blank" href="https://medlineplus.gov/genetics/condition/rippling-muscle-disease">https://medlineplus.gov/genetics/condition/rippling-muscle-disease</a></div></div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_340638"><div><strong>Exercise-induced myalgia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340638</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1850830</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The occurrence of an unusually high amount of muscle pain following exercise.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340638">Feature record</a> | <a href="/medgen?term=%22Exercise-induced%20myalgia%22%5BClinical%20Features%5D%20OR%20340638%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_113169"><div><strong>Proximal muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>113169</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0221629</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A lack of strength of the proximal muscles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/113169">Feature record</a> | <a href="/medgen?term=%22Proximal%20muscle%20weakness%22%5BClinical%20Features%5D%20OR%20113169%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65865"><div><strong>Gowers sign</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65865</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0234182</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65865">Feature record</a> | <a href="/medgen?term=%22Gowers%20sign%22%5BClinical%20Features%5D%20OR%2065865%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_99199"><div><strong>EMG abnormality</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99199</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0476403</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal results of investigations using electromyography (EMG).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/99199">Feature record</a> | <a href="/medgen?term=%22EMG%20abnormality%22%5BClinical%20Features%5D%20OR%2099199%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_335868"><div><strong>Calf muscle hypertrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335868</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1843057</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Muscle hypertrophy affecting the calf muscles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335868">Feature record</a> | <a href="/medgen?term=%22Calf%20muscle%20hypertrophy%22%5BClinical%20Features%5D%20OR%20335868%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_340036"><div><strong>Muscle hyperirritability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340036</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1853701</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340036">Feature record</a> | <a href="/medgen?term=%22Muscle%20hyperirritability%22%5BClinical%20Features%5D%20OR%20340036%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_340037"><div><strong>Muscle mounding</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340037</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1853702</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Percussion-induced, local prolonged contractions (mounding) in muscle persisting for several seconds.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340037">Feature record</a> | <a href="/medgen?term=%22Muscle%20mounding%22%5BClinical%20Features%5D%20OR%20340037%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_383715"><div><strong>Exercise-induced muscle cramps</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383715</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1855578</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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||
<div class="spaceAbove">Sudden and involuntary contractions of one or more muscles brought on by physical exertion.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/383715">Feature record</a> | <a href="/medgen?term=%22Exercise-induced%20muscle%20cramps%22%5BClinical%20Features%5D%20OR%20383715%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_343388"><div><strong>Exercise-induced muscle stiffness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343388</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1855579</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of muscle stiffness that occurs following physical exertion.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343388">Feature record</a> | <a href="/medgen?term=%22Exercise-induced%20muscle%20stiffness%22%5BClinical%20Features%5D%20OR%20343388%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_853739"><div><strong>Skeletal muscle hypertrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>853739</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2265792</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal increase in muscle size and mass not due to training.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/853739">Feature record</a> | <a href="/medgen?term=%22Skeletal%20muscle%20hypertrophy%22%5BClinical%20Features%5D%20OR%20853739%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_902498"><div><strong>Percussion-induced rapid rolling muscle contractions</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>902498</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4280804</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mechanical percussion (i.e., striking a muscle with a reflex hammer) leads to spreading waves of muscle contractions that begin proximally and spread laterally across the muscle.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/902498">Feature record</a> | <a href="/medgen?term=%22Percussion-induced%20rapid%20rolling%20muscle%20contractions%22%5BClinical%20Features%5D%20OR%20902498%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_69128"><div><strong>Elevated circulating creatine kinase concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>69128</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0241005</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/69128">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20creatine%20kinase%20concentration%22%5BClinical%20Features%5D%20OR%2069128%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_69128" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating creatine kinase concentration</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_335868" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Calf muscle hypertrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_99199" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">EMG abnormality</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_383715" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Exercise-induced muscle cramps</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_343388" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Exercise-induced muscle stiffness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65865" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gowers sign</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_340036" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscle hyperirritability</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_340037" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscle mounding</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_902498" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Percussion-induced rapid rolling muscle contractions</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_113169" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proximal muscle weakness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_853739" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Skeletal muscle hypertrophy</a></span></li></ul></li><li><span class="TLline">Constitutional symptom</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_340638" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Exercise-induced myalgia</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0686353[DISCUI]&test_type=Clinical" ref="ncbi_uid=151940">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=151940" ref="ncbi_uid=151940">V</a></span></span><span class="TLline"><a href="/medgen/151940" ref="tree=GTR&ncbi_uid=151940&link_uid=151940" title="View MedGen record for 'Limb-girdle muscular dystrophy'">Limb-girdle muscular dystrophy</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2931907[DISCUI]&test_type=Clinical" ref="ncbi_uid=419194">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=419194" ref="ncbi_uid=419194">V</a></span></span><span class="TLline"><a href="/medgen/419194" ref="tree=GTR&ncbi_uid=419194&link_uid=419194" title="View MedGen record for 'Autosomal recessive limb-girdle muscular dystrophy'">Autosomal recessive limb-girdle muscular dystrophy</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1869123[DISCUI]&test_type=Clinical" ref="ncbi_uid=358391">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=358391" target="_blank" href="/omim/114240">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1313/" ref="ncbi_uid=358391">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=358391" ref="ncbi_uid=358391">V</a></span></span><span class="TLline"><a href="/medgen/358391" ref="tree=GTR&ncbi_uid=358391&link_uid=358391" title="View MedGen record for 'Autosomal recessive limb-girdle muscular dystrophy type 2A'">Autosomal recessive limb-girdle muscular dystrophy type 2A</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1866008[DISCUI]&test_type=Clinical" ref="ncbi_uid=400895">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=400895" target="_blank" href="/omim/601954">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=400895" ref="ncbi_uid=400895">V</a></span></span><span class="TLline"><a href="/medgen/400895" ref="tree=GTR&ncbi_uid=400895&link_uid=400895" title="View MedGen record for 'Autosomal recessive limb-girdle muscular dystrophy type 2G'">Autosomal recessive limb-girdle muscular dystrophy type 2G</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1837342[DISCUI]&test_type=Clinical" ref="ncbi_uid=324741">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=324741" target="_blank" href="/omim/188840">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=324741" ref="ncbi_uid=324741">V</a></span></span><span class="TLline"><a href="/medgen/324741" ref="tree=GTR&ncbi_uid=324741&link_uid=324741" title="View MedGen record for 'Autosomal recessive limb-girdle muscular dystrophy type 2J'">Autosomal recessive limb-girdle muscular dystrophy type 2J</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1969785[DISCUI]&test_type=Clinical" ref="ncbi_uid=370102">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=370102" target="_blank" href="/omim/608662">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK114459/" ref="ncbi_uid=370102">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=370102" ref="ncbi_uid=370102">V</a></span></span><span class="TLline"><a href="/medgen/370102" ref="tree=GTR&ncbi_uid=370102&link_uid=370102" title="View MedGen record for 'Autosomal recessive limb-girdle muscular dystrophy type 2L'">Autosomal recessive limb-girdle muscular dystrophy type 2L</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4511963[DISCUI]&test_type=Clinical" ref="ncbi_uid=1386785">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1386785" target="_blank" href="/omim/128239">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1386785" ref="ncbi_uid=1386785">V</a></span></span><span class="TLline"><a href="/medgen/1386785" ref="tree=GTR&ncbi_uid=1386785&link_uid=1386785" title="View MedGen record for 'Autosomal recessive limb-girdle muscular dystrophy type 2P'">Autosomal recessive limb-girdle muscular dystrophy type 2P</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3150989[DISCUI]&test_type=Clinical" ref="ncbi_uid=462339">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462339" target="_blank" href="/omim/601282">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462339" ref="ncbi_uid=462339">V</a></span></span><span class="TLline"><a href="/medgen/462339" ref="tree=GTR&ncbi_uid=462339&link_uid=462339" title="View MedGen record for 'Autosomal recessive limb-girdle muscular dystrophy type 2Q'">Autosomal recessive limb-girdle muscular dystrophy type 2Q</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4517996[DISCUI]&test_type=Clinical" ref="ncbi_uid=1385598">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1385598" target="_blank" href="/omim/614138">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1385598" ref="ncbi_uid=1385598">V</a></span></span><span class="TLline"><a href="/medgen/1385598" ref="tree=GTR&ncbi_uid=1385598&link_uid=1385598" title="View MedGen record for 'Autosomal recessive limb-girdle muscular dystrophy type R18'">Autosomal recessive limb-girdle muscular dystrophy type R18</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0457133[DISCUI]&test_type=Clinical" ref="ncbi_uid=105341">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=105341" ref="ncbi_uid=105341">V</a></span></span><span class="TLline"><a href="/medgen/105341" ref="tree=GTR&ncbi_uid=105341&link_uid=105341" title="View MedGen record for 'Muscle eye brain disease'">Muscle eye brain disease</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151519[DISCUI]&test_type=Clinical" ref="ncbi_uid=462869">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462869" target="_blank" href="/omim/253280">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462869" ref="ncbi_uid=462869">V</a></span></span><span class="TLline"><a href="/medgen/462869" ref="tree=GTR&ncbi_uid=462869&link_uid=462869" title="View MedGen record for 'Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3'">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2751052[DISCUI]&test_type=Clinical" ref="ncbi_uid=413465">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=413465" target="_blank" href="/omim/607440">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=413465" ref="ncbi_uid=413465">V</a></span></span><span class="TLline"><a href="/medgen/413465" ref="tree=GTR&ncbi_uid=413465&link_uid=413465" title="View MedGen record for 'Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4'">Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1847759[DISCUI]&test_type=Clinical" ref="ncbi_uid=335764">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=335764" target="_blank" href="/omim/606612">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=335764" ref="ncbi_uid=335764">V</a></span></span><span class="TLline"><a href="/medgen/335764" ref="tree=GTR&ncbi_uid=335764&link_uid=335764" title="View MedGen record for 'Muscular dystrophy-dystroglycanopathy type B5'">Muscular dystrophy-dystroglycanopathy type B5</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2931687[DISCUI]&test_type=Clinical" ref="ncbi_uid=419874">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1303/" ref="ncbi_uid=419874">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=419874" ref="ncbi_uid=419874">V</a></span></span><span class="TLline"><a href="/medgen/419874" ref="tree=GTR&ncbi_uid=419874&link_uid=419874" title="View MedGen record for 'Qualitative or quantitative defects of dysferlin'">Qualitative or quantitative defects of dysferlin</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1850889[DISCUI]&test_type=Clinical" ref="ncbi_uid=338149">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=338149" target="_blank" href="/omim/253601">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1303/" ref="ncbi_uid=338149">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=338149" ref="ncbi_uid=338149">V</a></span></span><span class="TLline"><a href="/medgen/338149" ref="tree=GTR&ncbi_uid=338149&link_uid=338149" title="View MedGen record for 'Autosomal recessive limb-girdle muscular dystrophy type 2B'">Autosomal recessive limb-girdle muscular dystrophy type 2B</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4551973[DISCUI]&test_type=Clinical" ref="ncbi_uid=1640757">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1640757" target="_blank" href="/omim/254130">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1303/" ref="ncbi_uid=1640757">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1640757" ref="ncbi_uid=1640757">V</a></span></span><span class="TLline"><a href="/medgen/1640757" ref="tree=GTR&ncbi_uid=1640757&link_uid=1640757" title="View MedGen record for 'Miyoshi muscular dystrophy 1'">Miyoshi muscular dystrophy 1</a></span></li></ul></li><li class="TLclosed"><span class="TLline"><a href="/medgen/424705" ref="tree=GTR&ncbi_uid=424705&link_uid=424705" title="View MedGen record for 'Sarcoglycanopathy'">Sarcoglycanopathy</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0410173[DISCUI]&test_type=Clinical" ref="ncbi_uid=98045">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=98045" target="_blank" href="/omim/253700">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=98045" ref="ncbi_uid=98045">V</a></span></span><span class="TLline"><a href="/medgen/98045" ref="tree=GTR&ncbi_uid=98045&link_uid=98045" title="View MedGen record for 'Autosomal recessive limb-girdle muscular dystrophy type 2C'">Autosomal recessive limb-girdle muscular dystrophy type 2C</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2936332[DISCUI]&test_type=Clinical" ref="ncbi_uid=424706">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=424706" target="_blank" href="/omim/600119">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=424706" ref="ncbi_uid=424706">V</a></span></span><span class="TLline"><a href="/medgen/424706" ref="tree=GTR&ncbi_uid=424706&link_uid=424706" title="View MedGen record for 'Autosomal recessive limb-girdle muscular dystrophy type 2D'">Autosomal recessive limb-girdle muscular dystrophy type 2D</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2930900[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=418943">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=418943" ref="ncbi_uid=418943">V</a></span></span><span class="TLline"><a href="/medgen/418943" ref="tree=GTR&ncbi_uid=418943&link_uid=418943" title="View MedGen record for 'Qualitative or quantitative defects of beta-sarcoglycan'">Qualitative or quantitative defects of beta-sarcoglycan</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5680806[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=1826098">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1826098" ref="ncbi_uid=1826098">V</a></span></span><span class="TLline"><a href="/medgen/1826098" ref="tree=GTR&ncbi_uid=1826098&link_uid=1826098" title="View MedGen record for 'Qualitative or quantitative defects of delta-sarcoglycan'">Qualitative or quantitative defects of delta-sarcoglycan</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0270968[DISCUI]&test_type=Clinical" ref="ncbi_uid=78750">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=78750" target="_blank" href="/omim/254110">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=78750" ref="ncbi_uid=78750">V</a></span></span><span class="TLline"><a href="/medgen/78750" ref="tree=GTR&ncbi_uid=78750&link_uid=78750" title="View MedGen record for 'Sarcotubular myopathy'">Sarcotubular myopathy</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5675009[DISCUI]&test_type=Clinical" ref="ncbi_uid=1826162">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1826162" ref="ncbi_uid=1826162">V</a></span></span><span class="TLline"><a href="/medgen/1826162" ref="tree=GTR&ncbi_uid=1826162&link_uid=1826162" title="View MedGen record for 'Muscular dystrophy, limb-girdle, autosomal dominant'">Muscular dystrophy, limb-girdle, autosomal dominant</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4721885[DISCUI]&test_type=Clinical" ref="ncbi_uid=1648441">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1648441" target="_blank" href="/omim/603511">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1648441" ref="ncbi_uid=1648441">V</a></span></span><span class="TLline"><a href="/medgen/1648441" ref="tree=GTR&ncbi_uid=1648441&link_uid=1648441" title="View MedGen record for 'Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)'">Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1842062[DISCUI]&test_type=Clinical" ref="ncbi_uid=333983">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=333983" target="_blank" href="/omim/608423">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=333983" ref="ncbi_uid=333983">V</a></span></span><span class="TLline"><a href="/medgen/333983" ref="tree=GTR&ncbi_uid=333983&link_uid=333983" title="View MedGen record for 'Autosomal dominant limb-girdle muscular dystrophy type 1F'">Autosomal dominant limb-girdle muscular dystrophy type 1F</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1836765[DISCUI]&test_type=Clinical" ref="ncbi_uid=322993">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=322993" target="_blank" href="/omim/607137">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=322993" ref="ncbi_uid=322993">V</a></span></span><span class="TLline"><a href="/medgen/322993" ref="tree=GTR&ncbi_uid=322993&link_uid=322993" title="View MedGen record for 'Autosomal dominant limb-girdle muscular dystrophy type 1G'">Autosomal dominant limb-girdle muscular dystrophy type 1G</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3150786[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=462136">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462136" target="_blank" href="/omim/613530">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/462136" ref="tree=GTR&ncbi_uid=462136&link_uid=462136" title="View MedGen record for 'Autosomal dominant limb-girdle muscular dystrophy type 1H'">Autosomal dominant limb-girdle muscular dystrophy type 1H</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5679790[DISCUI]&test_type=Clinical" ref="ncbi_uid=1826055">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1826055" ref="ncbi_uid=1826055">V</a></span></span><span class="TLline"><a href="/medgen/1826055" ref="tree=GTR&ncbi_uid=1826055&link_uid=1826055" title="View MedGen record for 'Caveolinopathy'">Caveolinopathy</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0241005[DISCUI]&test_type=Clinical" ref="ncbi_uid=69128">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=69128" target="_blank" href="/omim/123320">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=69128" ref="ncbi_uid=69128">V</a></span></span><span class="TLline"><a href="/medgen/69128" ref="tree=GTR&ncbi_uid=69128&link_uid=69128" title="View MedGen record for 'Elevated circulating creatine kinase concentration'">Elevated circulating creatine kinase concentration</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3495498[DISCUI]&test_type=Clinical" ref="ncbi_uid=501195">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=501195" target="_blank" href="/omim/160760">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1768/" ref="ncbi_uid=501195">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=501195" ref="ncbi_uid=501195">V</a></span></span><span class="TLline"><a href="/medgen/501195" ref="tree=GTR&ncbi_uid=501195&link_uid=501195" title="View MedGen record for 'Hypertrophic cardiomyopathy 1'">Hypertrophic cardiomyopathy 1</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832560[DISCUI]&test_type=Clinical" ref="ncbi_uid=371357">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=371357" target="_blank" href="/omim/601253">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=371357" ref="ncbi_uid=371357">V</a></span></span><span class="TLline">Rippling muscle disease 2</span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832370[DISCUI]&test_type=Clinical" ref="ncbi_uid=330449">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=330449" target="_blank" href="/omim/125660">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1309/" ref="ncbi_uid=330449">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=330449" ref="ncbi_uid=330449">V</a></span></span><span class="TLline"><a href="/medgen/330449" ref="tree=GTR&ncbi_uid=330449&link_uid=330449" title="View MedGen record for 'Desmin-related myofibrillar myopathy'">Desmin-related myofibrillar myopathy</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0410190[DISCUI]&test_type=Clinical" ref="ncbi_uid=98048">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=98048" target="_blank" href="/omim/150330">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1436/" ref="ncbi_uid=98048">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=98048" ref="ncbi_uid=98048">V</a></span></span><span class="TLline"><a href="/medgen/98048" ref="tree=GTR&ncbi_uid=98048&link_uid=98048" title="View MedGen record for 'Emery-Dreifuss muscular dystrophy 2, autosomal dominant'">Emery-Dreifuss muscular dystrophy 2, autosomal dominant</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3714934[DISCUI]&test_type=Clinical" ref="ncbi_uid=811509">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=811509" target="_blank" href="/omim/604103">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=811509" ref="ncbi_uid=811509">V</a></span></span><span class="TLline"><a href="/medgen/811509" ref="tree=GTR&ncbi_uid=811509&link_uid=811509" title="View MedGen record for 'Myofibrillar myopathy 3'">Myofibrillar myopathy 3</a></span></li></ul></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/536898" ref="tree=MeSH" title="MedGen record for Abnormality of limbs">Abnormality of limbs</a></span><ul><li><span class="TLline"><a href="/medgen/870150" ref="tree=MeSH" title="MedGen record for Abnormality of the musculature of the limbs">Abnormality of the musculature of the limbs</a></span><ul><li><span class="TLline"><a href="/medgen/330868" ref="tree=MeSH" title="MedGen record for Limb-girdle muscle atrophy">Limb-girdle muscle atrophy</a></span><ul><li><span class="TLline"><a href="/medgen/151940" ref="tree=MeSH" title="MedGen record for Limb-girdle muscular dystrophy">Limb-girdle muscular dystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/1826162" ref="tree=MeSH" title="MedGen record for Muscular dystrophy, limb-girdle, autosomal dominant">Muscular dystrophy, limb-girdle, autosomal dominant</a></span><ul><li><span class="TLline"><a href="/medgen/1826055" ref="tree=MeSH" title="MedGen record for Caveolinopathy">Caveolinopathy</a></span><ul><li><span class="matched_ds">Rippling muscle disease 2</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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</div>
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<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
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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></div></div></div></div></div></div>
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<div class="supplemental col three_col last">
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<!-- MedGen supplemental column starts here -->
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<div class="rightCol mgCol">
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1832560%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (47)</a></li>
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<li><a href="/gtr/tests?term=C1832560%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (2)</a></li>
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<li><a href="/gtr/tests?term=C1832560%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (66)</a></li>
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<li><a href="/gtr/tests?term=C1832560%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (9)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1832560%5bDISCUI%5d" target="_blank">See all (72)</a></total></li>
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</ul></div>
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<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=606072" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Rippling%20muscle%20disease%202" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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</div>
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<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=601253" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=859[geneid]" target="_blank">View CAV3 variations in ClinVar</a></li><li><a href="/nuccore/209969774" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=606072" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet mgSection" id="ID_116">
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<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>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/rippling_muscle_disease_2" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Rippling%20muscle%20disease%202" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/rippling-muscle-disease" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/9164/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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