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<meta name="keywords" content="C1853926, disease or syndrome, distal myopathy with rimmed vacuoles, distal myopathy, nonaka type, dmrv, gne, gne myopathy, hereditary inclusion body myopathy, hereditary inclusion body myopathy type 2, hibm, hibm2, ibm 2, ibm2, ibm2, formerly, inclusion body myopathy 2, inclusion body myopathy 2, autosomal recessive, inclusion body myopathy 2, autosomal recessive, formerly, inclusion body myopathy autosomal recessive, inclusion body myopathy quadriceps sparing, inclusion body myopathy type 2, inclusion body myopathy, autosomal recessive, inclusion body myopathy, hereditary, autosomal recessive, inclusion body myopathy, quadriceps-sparing, myopathy, distal, with or without rimmed vacuoles, myopathy, distal, with rimmed vacuoles, nm, nonaka distal myopathy, nonaka myopathy, qsm, quadricep sparing inclusion body myopathy, quadriceps sparing myopathy, quadriceps-sparing myopathy, rimmed vacuole myopathy, 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="GNE myopathy is a slowly progressive muscle disease that typically presents between age 20 and 40 years with bilateral foot drop caused by anterior tibialis weakness. Lower-extremity muscle involvement progresses from the anterior to the posterior compartment of the lower leg, followed by hamstrings, then hip girdle muscles, with relative sparing of the quadriceps. A wheelchair may be needed about ten to 20 years after the onset of manifestations. The upper extremities, which may be affected within five to ten years of disease onset, do not necessarily follow a distal-to-proximal progression. In advanced stages, neck and core muscles can become affected." /><meta name="robots" content="index,nofollow,noarchive" />
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<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;">
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<!--
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||
UID=381298
|
||
ConceptID=C1853926
|
||
-->
|
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<!--imgCountBooks = 1--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Image</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1262/bin/ibm-Image001.gif" src-large="/books/NBK1262/bin/ibm-Image001.jpg" /></a><br /><a href="/books/NBK1262/figure/ibm.F1/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">GNE myopathy<span class="h1sub">(NM)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381298</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C1853926</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>IBM 2; Inclusion body myopathy 2; INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE; Inclusion body myopathy autosomal recessive; Inclusion body myopathy quadriceps sparing; INCLUSION BODY MYOPATHY, HEREDITARY, AUTOSOMAL RECESSIVE; MYOPATHY, DISTAL, WITH OR WITHOUT RIMMED VACUOLES; NM; NONAKA DISTAL MYOPATHY; Nonaka myopathy</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Hereditary inclusion body myopathy (702382000); Rimmed vacuole myopathy (702382000); Inclusion body myopathy 2 (702382000); Distal myopathy with rimmed vacuoles (702382000); Quadricep sparing inclusion body myopathy (702382000); Nonaka myopathy (702382000)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</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.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></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="GNE - ID: 10020 - NCBI Gene" href="/gene/10020" class="medgenPMinfo">GNE</a> (9p13.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0011603" target="_blank">MONDO:0011603</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/605820" target="_blank">605820</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=602">ORPHA602</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_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1262" target="_blank">GNE Myopathy</a></div><div>GNE myopathy is a slowly progressive muscle disease that typically presents between age 20 and 40 years with bilateral foot drop caused by anterior tibialis weakness. Lower-extremity muscle involvement progresses from the anterior to the posterior compartment of the lower leg, followed by hamstrings, then hip girdle muscles, with relative sparing of the quadriceps. A wheelchair may be needed about ten to 20 years after the onset of manifestations. The upper extremities, which may be affected within five to ten years of disease onset, do not necessarily follow a distal-to-proximal progression. In advanced stages, neck and core muscles can become affected. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1262#ibm.Summary" target="NBK1262">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1262#ibm.Diagnosis" target="NBK1262">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1262#ibm.Clinical_Characteristics" target="NBK1262">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1262#ibm.Genetically_Related_Allelic_Disorder" target="NBK1262">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1262#ibm.Differential_Diagnosis" target="NBK1262">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1262#ibm.Management" target="NBK1262">Management</a> | <a class="medgenPMinfo" href="/books/NBK1262#ibm.Genetic_Counseling" target="NBK1262">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1262#ibm.Resources" target="NBK1262">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1262#ibm.Molecular_Genetics" target="NBK1262">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1262#ibm.Chapter_Notes" target="NBK1262">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1262#ibm.References" target="NBK1262">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Nuria Carrillo | May Christine Malicdan | Marjan Huizing <a href="/books/NBK1262" target="NBK1262" title="NCBI Bookshelf: GNE Myopathy">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Nonaka myopathy (NM) is an autosomal recessive progressive adult-onset myopathy with a predeliction for distal muscle involvement, usually affecting the lower limbs and resulting in gait abnormalities or loss of ambulation. Some individuals may have involvement of the upper limbs or proximal muscles (Argov et al., 2003). In rare cases (up to 2.5%), the myopathy can be associated with mild, asymptomatic thrombocytopenia, as observed in the allelic disorder THC12 (summary by Revel-Vilk et al., 2018).
|
||
Historically, the disorder has had several different names, including distal myopathy with rimmed vacuoles, inclusion body myopathy, and quadriceps-sparing myopathy. Huizing et al. (2014) proposed using the term 'GNE myopathy' to refer to this disorder. <a target="_blank" href="http://www.omim.org/entry/605820">http://www.omim.org/entry/605820</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />GNE myopathy is a condition that primarily affects skeletal muscles, which are muscles that the body uses for movement. This disorder causes muscle weakness that appears in late adolescence or early adulthood and worsens over time.<br /><br />Difficulty lifting the front part of the foot (foot drop) is often the first sign of GNE myopathy. For individuals with GNE myopathy, foot drop is caused by weakness of a muscle in the lower leg called the tibialis anterior. This muscle helps raise the foot up. Weakness in the tibialis anterior alters the way a person walks and makes it difficult to run and climb stairs. As the disorder progresses, weakness also develops in the muscles of the upper legs, hips, shoulders, and hands. Unlike most forms of myopathy, GNE myopathy usually does not affect the quadriceps, which are a group of large muscles at the front of the thigh. This condition also does not affect the muscles of the eye or heart, and it does not cause neurological problems. Weakness in leg muscles makes walking increasingly difficult, and most people with GNE myopathy require wheelchair assistance within 20 years after the signs and symptoms of the disorder appear.<br /><br />People with the characteristic features of GNE myopathy have been described in several different populations. When the condition was first reported in Japanese families, researchers called it distal myopathy with rimmed vacuoles (DMRV) or Nonaka myopathy. When a similar disorder was discovered in Iranian Jewish families, researchers called it rimmed vacuole myopathy or hereditary inclusion body myopathy (HIBM). It has since become clear that these conditions are variations of a single disorder caused by changes in the same gene. <a target="_blank" href="https://medlineplus.gov/genetics/condition/gne-myopathy">https://medlineplus.gov/genetics/condition/gne-myopathy</a></div></div>
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||
</div>
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||
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||
<div class="portlet mgSection" id="ID_102">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
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||
<div class="divPopper rprt" id="clin_324514"><div><strong>Distal lower limb muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324514</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.">C1836450</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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||
<div class="spaceAbove">Reduced strength of the distal musculature of the legs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324514">Feature record</a> | <a href="/medgen?term=%22Distal%20lower%20limb%20muscle%20weakness%22%5BClinical%20Features%5D%20OR%20324514%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107895"><div><strong>Gait disturbance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107895</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0575081</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The term gait disturbance can refer to any disruption of the ability to walk.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107895">Feature record</a> | <a href="/medgen?term=%22Gait%20disturbance%22%5BClinical%20Features%5D%20OR%20107895%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_140883"><div><strong>Distal muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140883</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.">C0427065</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced strength of the musculature of the distal extremities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140883">Feature record</a> | <a href="/medgen?term=%22Distal%20muscle%20weakness%22%5BClinical%20Features%5D%20OR%20140883%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_338530"><div><strong>Distal amyotrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338530</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.">C1848736</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Muscular atrophy affecting muscles in the distal portions of the extremities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338530">Feature record</a> | <a href="/medgen?term=%22Distal%20amyotrophy%22%5BClinical%20Features%5D%20OR%20338530%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_340089"><div><strong>Rimmed vacuoles</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340089</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.">C1853932</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340089">Feature record</a> | <a href="/medgen?term=%22Rimmed%20vacuoles%22%5BClinical%20Features%5D%20OR%20340089%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_343012"><div><strong>Deposits immunoreactive to beta-amyloid protein</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343012</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.">C1853934</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343012">Feature record</a> | <a href="/medgen?term=%22Deposits%20immunoreactive%20to%20beta-amyloid%20protein%22%5BClinical%20Features%5D%20OR%20343012%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_867362"><div><strong>EMG: myopathic abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867362</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.">C4021726</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867362">Feature record</a> | <a href="/medgen?term=%22EMG%3A%20myopathic%20abnormalities%22%5BClinical%20Features%5D%20OR%20867362%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 limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_324514" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Distal lower limb muscle weakness</a></span></li></ul></li><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_343012" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deposits immunoreactive to beta-amyloid protein</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_338530" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Distal amyotrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140883" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Distal muscle weakness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867362" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">EMG: myopathic abnormalities</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_340089" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rimmed vacuoles</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107895" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gait disturbance</a></span></li></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="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1853926[DISCUI]&test_type=Clinical" ref="ncbi_uid=381298">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=381298" target="_blank" href="/omim/603824">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1262/" ref="ncbi_uid=381298">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=381298" ref="ncbi_uid=381298">V</a></span></span><span class="TLline">GNE myopathy</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842267" ref="tree=MeSH" title="MedGen record for Autosomal recessive distal myopathy">Autosomal recessive distal myopathy</a></span><ul><li><span class="matched_ds">GNE myopathy</span></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39332896">Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jiao K,
|
||
Zhang J,
|
||
Li Q,
|
||
Lv X,
|
||
Yu Y,
|
||
Zhu B,
|
||
Zhong H,
|
||
Yu X,
|
||
Song J,
|
||
Ke Q,
|
||
Qian F,
|
||
Luan X,
|
||
Zhang X,
|
||
Chang X,
|
||
Wang L,
|
||
Liu M,
|
||
Dong J,
|
||
Zou Z,
|
||
Bu B,
|
||
Jiang H,
|
||
Liu L,
|
||
Li Y,
|
||
Yue D,
|
||
Chang X,
|
||
Zheng Y,
|
||
Wang N,
|
||
Gao M,
|
||
Xia X,
|
||
Cheng N,
|
||
Wang T,
|
||
Luo SS,
|
||
Xi J,
|
||
Lin J,
|
||
Lu J,
|
||
Zhao C,
|
||
Yang H,
|
||
Lin P,
|
||
Hong D,
|
||
Zhao Z,
|
||
Wang Z,
|
||
Zhu W</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2024 Oct 23;61(11):1053-1061.
|
||
doi: 10.1136/jmg-2024-110149.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39332896" target="_blank">39332896</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38383972">Non-viral delivery of nucleic acid for treatment of rare diseases of the muscle.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rao D,
|
||
Ganguli M</span><br />
|
||
<span class="medgenPMjournal">J Biosci</span>
|
||
2024;49
|
||
<span class="bold">PMID: </span><a href="/pubmed/38383972" target="_blank">38383972</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32419263">Differential diagnosis of vacuolar myopathies in the NGS era.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mair D,
|
||
Biskup S,
|
||
Kress W,
|
||
Abicht A,
|
||
Brück W,
|
||
Zechel S,
|
||
Knop KC,
|
||
Koenig FB,
|
||
Tey S,
|
||
Nikolin S,
|
||
Eggermann K,
|
||
Kurth I,
|
||
Ferbert A,
|
||
Weis J</span><br />
|
||
<span class="medgenPMjournal">Brain Pathol</span>
|
||
2020 Sep;30(5):877-896.
|
||
Epub 2020 Jun 15
|
||
doi: 10.1111/bpa.12864.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32419263" target="_blank">32419263</a><a href="/pmc/articles/PMC8017999" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22gne%20myopathy%22%5Btiab%3A~0%5D)%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 (5)</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/37365282">The genetic and clinical spectrum in a cohort of 39 families with complex inherited peripheral neuropathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang M,
|
||
Yang H,
|
||
Lin Z,
|
||
Li X,
|
||
Liu L,
|
||
Huang S,
|
||
Zhao H,
|
||
Zhu X,
|
||
Xiao Q,
|
||
Duan R,
|
||
Wang J,
|
||
Zuchner S,
|
||
Tang B,
|
||
Zhang R</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2023 Oct;270(10):4959-4967.
|
||
Epub 2023 Jun 26
|
||
doi: 10.1007/s00415-023-11821-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37365282" target="_blank">37365282</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36360228">Genetic and Clinical Spectrum of GNE Myopathy in Russia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Murtazina A,
|
||
Nikitin S,
|
||
Rudenskaya G,
|
||
Sharkova I,
|
||
Borovikov A,
|
||
Sparber P,
|
||
Shchagina O,
|
||
Chukhrova A,
|
||
Ryzhkova O,
|
||
Shatokhina O,
|
||
Orlova A,
|
||
Udalova V,
|
||
Kanivets I,
|
||
Korostelev S,
|
||
Polyakov A,
|
||
Dadali E,
|
||
Kutsev S</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2022 Oct 31;13(11)
|
||
doi: 10.3390/genes13111991.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36360228" target="_blank">36360228</a><a href="/pmc/articles/PMC9690815" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35438352">Gene analysis and clinical features of 22 GNE myopathy patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guo X,
|
||
Zhao Z,
|
||
Shen H,
|
||
Bing Q,
|
||
Li N,
|
||
Chen J,
|
||
Hu J</span><br />
|
||
<span class="medgenPMjournal">Neurol Sci</span>
|
||
2022 Aug;43(8):5049-5056.
|
||
Epub 2022 Apr 19
|
||
doi: 10.1007/s10072-022-06023-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35438352" target="_blank">35438352</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35138478">Clinical, genetic, and pathological characterization of GNE myopathy in China.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lv XQ,
|
||
Xu L,
|
||
Lin PF,
|
||
Yan CZ</span><br />
|
||
<span class="medgenPMjournal">Neurol Sci</span>
|
||
2022 Jul;43(7):4483-4491.
|
||
Epub 2022 Feb 9
|
||
doi: 10.1007/s10072-022-05938-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35138478" target="_blank">35138478</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25149037">Hereditary inclusion-body myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Broccolini A,
|
||
Mirabella M</span><br />
|
||
<span class="medgenPMjournal">Biochim Biophys Acta</span>
|
||
2015 Apr;1852(4):644-50.
|
||
Epub 2014 Aug 19
|
||
doi: 10.1016/j.bbadis.2014.08.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25149037" target="_blank">25149037</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22GNE%20myopathy%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 (50)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39163158">What is in the Myopathy Literature?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Isfort M,
|
||
Lacomis D</span><br />
|
||
<span class="medgenPMjournal">J Clin Neuromuscul Dis</span>
|
||
2024 Sep 1;26(1):16-31.
|
||
doi: 10.1097/CND.0000000000000484.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39163158" target="_blank">39163158</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34985130">Hereditary myopathies associated with hematological abnormalities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Beecher G,
|
||
Fleming MD,
|
||
Liewluck T</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2022 Apr;65(4):374-390.
|
||
Epub 2022 Jan 5
|
||
doi: 10.1002/mus.27474.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34985130" target="_blank">34985130</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30338442">GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carrillo N,
|
||
Malicdan MC,
|
||
Huizing M</span><br />
|
||
<span class="medgenPMjournal">Neurotherapeutics</span>
|
||
2018 Oct;15(4):900-914.
|
||
doi: 10.1007/s13311-018-0671-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30338442" target="_blank">30338442</a><a href="/pmc/articles/PMC6277305" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25002140">GNE myopathy: current update and future therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nishino I,
|
||
Carrillo-Carrasco N,
|
||
Argov Z</span><br />
|
||
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
|
||
2015 Apr;86(4):385-92.
|
||
Epub 2014 Jul 7
|
||
doi: 10.1136/jnnp-2013-307051.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25002140" target="_blank">25002140</a><a href="/pmc/articles/PMC4394625" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24796702">Mutation update for GNE gene variants associated with GNE myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Celeste FV,
|
||
Vilboux T,
|
||
Ciccone C,
|
||
de Dios JK,
|
||
Malicdan MC,
|
||
Leoyklang P,
|
||
McKew JC,
|
||
Gahl WA,
|
||
Carrillo-Carrasco N,
|
||
Huizing M</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2014 Aug;35(8):915-26.
|
||
doi: 10.1002/humu.22583.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24796702" target="_blank">24796702</a><a href="/pmc/articles/PMC4172345" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22GNE%20myopathy%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (53)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38383974">Understanding pathophysiology of GNE myopathy and current progress towards drug development.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mashangva F,
|
||
Singh S,
|
||
Oswalia J,
|
||
Arya R</span><br />
|
||
<span class="medgenPMjournal">J Biosci</span>
|
||
2024;49
|
||
<span class="bold">PMID: </span><a href="/pubmed/38383974" target="_blank">38383974</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37852099">Pharmacokinetics and clinical efficacy of 6'-sialyllactose in patients with GNE myopathy: Randomized pilot trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Park YE,
|
||
Park E,
|
||
Choi J,
|
||
Go H,
|
||
Park DB,
|
||
Kim MY,
|
||
Sung NJ,
|
||
Kim L,
|
||
Shin JH</span><br />
|
||
<span class="medgenPMjournal">Biomed Pharmacother</span>
|
||
2023 Dec;168:115689.
|
||
Epub 2023 Oct 16
|
||
doi: 10.1016/j.biopha.2023.115689.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37852099" target="_blank">37852099</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35959526">Recent advances in establishing a cure for GNE myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yoshioka W,
|
||
Nishino I,
|
||
Noguchi S</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Neurol</span>
|
||
2022 Oct 1;35(5):629-636.
|
||
Epub 2022 Aug 11
|
||
doi: 10.1097/WCO.0000000000001090.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35959526" target="_blank">35959526</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29720219">GNE myopathy: from clinics and genetics to pathology and research strategies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pogoryelova O,
|
||
González Coraspe JA,
|
||
Nikolenko N,
|
||
Lochmüller H,
|
||
Roos A</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2018 May 2;13(1):70.
|
||
doi: 10.1186/s13023-018-0802-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29720219" target="_blank">29720219</a><a href="/pmc/articles/PMC5930817" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25002140">GNE myopathy: current update and future therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nishino I,
|
||
Carrillo-Carrasco N,
|
||
Argov Z</span><br />
|
||
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
|
||
2015 Apr;86(4):385-92.
|
||
Epub 2014 Jul 7
|
||
doi: 10.1136/jnnp-2013-307051.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25002140" target="_blank">25002140</a><a href="/pmc/articles/PMC4394625" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22GNE%20myopathy%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 (23)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39213088">GNE Myopathy: Genotype - Phenotype Correlation and Disease Progression in an Indian Cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baskar D,
|
||
Reddy N,
|
||
Preethish-Kumar V,
|
||
Polavarapu K,
|
||
Nishadham V,
|
||
Vengalil S,
|
||
Nashi S,
|
||
Sanka SB,
|
||
Bardhan M,
|
||
Huddar A,
|
||
Unnikrishnan G,
|
||
Harikrishna GV,
|
||
Gunasekaran S,
|
||
Thomas PT,
|
||
Keerthipriya MS,
|
||
Girija MS,
|
||
Arunachal G,
|
||
Anjanappa RM,
|
||
Nishino I,
|
||
Pogoryelova O,
|
||
Lochmuller H,
|
||
Nalini A</span><br />
|
||
<span class="medgenPMjournal">J Neuromuscul Dis</span>
|
||
2024;11(5):959-968.
|
||
doi: 10.3233/JND-230130.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39213088" target="_blank">39213088</a><a href="/pmc/articles/PMC11380251" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/39102614">Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillary and Distal Myopathies: Experience From the Italian Network.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bortolani S,
|
||
Savarese M,
|
||
Vattemi G,
|
||
Bonanno S,
|
||
Falzone YM,
|
||
Pugliese A,
|
||
Primiano G,
|
||
Sancricca C,
|
||
Lopergolo D,
|
||
Greco G,
|
||
Gemelli C,
|
||
Ravaglia S,
|
||
Bencivenga RP,
|
||
Velardo D,
|
||
Magri F,
|
||
Valentino ML,
|
||
Cheli M,
|
||
Torchia E,
|
||
Lucchini M,
|
||
Petrucci A,
|
||
Ricci G,
|
||
Garibaldi M,
|
||
Astrea G,
|
||
Rubegni A,
|
||
Angelini CI,
|
||
Ariatti A,
|
||
Santorelli FM,
|
||
Ruggieri A,
|
||
Antonini G,
|
||
Siciliano G,
|
||
Filosto M,
|
||
Mirabella M,
|
||
Liguori R,
|
||
Comi GP,
|
||
Ruggiero L,
|
||
Grandis M,
|
||
Massa R,
|
||
Malandrini A,
|
||
Servidei S,
|
||
Mongini TE,
|
||
Rodolico C,
|
||
Toscano A,
|
||
Previtali SC,
|
||
Tonin P,
|
||
Diaz-Manera J,
|
||
Monforte M,
|
||
Ricci E,
|
||
Maggi L,
|
||
Tasca G</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2024 Aug 27;103(4):e209697.
|
||
Epub 2024 Aug 5
|
||
doi: 10.1212/WNL.0000000000209697.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39102614" target="_blank">39102614</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38558464">Pseudoexon activation by deep intronic variation in GNE myopathy with thrombocytopenia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jiao K,
|
||
Cheng N,
|
||
Huan X,
|
||
Zhang J,
|
||
Ding Y,
|
||
Luan X,
|
||
Liu L,
|
||
Wang X,
|
||
Zhu B,
|
||
Du K,
|
||
Fan J,
|
||
Gao M,
|
||
Xia X,
|
||
Wang N,
|
||
Wang T,
|
||
Xi J,
|
||
Luo S,
|
||
Lu J,
|
||
Zhao C,
|
||
Yue D,
|
||
Zhu W</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2024 Jun;69(6):708-718.
|
||
Epub 2024 Apr 1
|
||
doi: 10.1002/mus.28092.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38558464" target="_blank">38558464</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33197058">Early and consistent pattern of proximal weakness in GNE myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khadilkar SV,
|
||
Chaudhari AD,
|
||
Singla MB,
|
||
Dastur RS,
|
||
Gaitonde PS,
|
||
Bhutada AG,
|
||
Hegde MR</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2021 Feb;63(2):199-203.
|
||
Epub 2020 Nov 28
|
||
doi: 10.1002/mus.27117.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33197058" target="_blank">33197058</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24796702">Mutation update for GNE gene variants associated with GNE myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Celeste FV,
|
||
Vilboux T,
|
||
Ciccone C,
|
||
de Dios JK,
|
||
Malicdan MC,
|
||
Leoyklang P,
|
||
McKew JC,
|
||
Gahl WA,
|
||
Carrillo-Carrasco N,
|
||
Huizing M</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2014 Aug;35(8):915-26.
|
||
doi: 10.1002/humu.22583.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24796702" target="_blank">24796702</a><a href="/pmc/articles/PMC4172345" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22GNE%20myopathy%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (17)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38383974">Understanding pathophysiology of GNE myopathy and current progress towards drug development.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mashangva F,
|
||
Singh S,
|
||
Oswalia J,
|
||
Arya R</span><br />
|
||
<span class="medgenPMjournal">J Biosci</span>
|
||
2024;49
|
||
<span class="bold">PMID: </span><a href="/pubmed/38383974" target="_blank">38383974</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37852099">Pharmacokinetics and clinical efficacy of 6'-sialyllactose in patients with GNE myopathy: Randomized pilot trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Park YE,
|
||
Park E,
|
||
Choi J,
|
||
Go H,
|
||
Park DB,
|
||
Kim MY,
|
||
Sung NJ,
|
||
Kim L,
|
||
Shin JH</span><br />
|
||
<span class="medgenPMjournal">Biomed Pharmacother</span>
|
||
2023 Dec;168:115689.
|
||
Epub 2023 Oct 16
|
||
doi: 10.1016/j.biopha.2023.115689.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37852099" target="_blank">37852099</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36360228">Genetic and Clinical Spectrum of GNE Myopathy in Russia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Murtazina A,
|
||
Nikitin S,
|
||
Rudenskaya G,
|
||
Sharkova I,
|
||
Borovikov A,
|
||
Sparber P,
|
||
Shchagina O,
|
||
Chukhrova A,
|
||
Ryzhkova O,
|
||
Shatokhina O,
|
||
Orlova A,
|
||
Udalova V,
|
||
Kanivets I,
|
||
Korostelev S,
|
||
Polyakov A,
|
||
Dadali E,
|
||
Kutsev S</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2022 Oct 31;13(11)
|
||
doi: 10.3390/genes13111991.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36360228" target="_blank">36360228</a><a href="/pmc/articles/PMC9690815" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31594457">Autophagy Defects in Skeletal Myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Margeta M</span><br />
|
||
<span class="medgenPMjournal">Annu Rev Pathol</span>
|
||
2020 Jan 24;15:261-285.
|
||
Epub 2019 Oct 8
|
||
doi: 10.1146/annurev-pathmechdis-012419-032618.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31594457" target="_blank">31594457</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24796702">Mutation update for GNE gene variants associated with GNE myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Celeste FV,
|
||
Vilboux T,
|
||
Ciccone C,
|
||
de Dios JK,
|
||
Malicdan MC,
|
||
Leoyklang P,
|
||
McKew JC,
|
||
Gahl WA,
|
||
Carrillo-Carrasco N,
|
||
Huizing M</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2014 Aug;35(8):915-26.
|
||
doi: 10.1002/humu.22583.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24796702" target="_blank">24796702</a><a href="/pmc/articles/PMC4172345" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22GNE%20myopathy%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 (43)</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/39616806">Maternal health and obstetric complications of genetic neuromuscular disorders in pregnancy: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ahmed HS,
|
||
Teli A,
|
||
Khullar K,
|
||
Deepak BL</span><br />
|
||
<span class="medgenPMjournal">Eur J Obstet Gynecol Reprod Biol</span>
|
||
2025 Jan;304:152-170.
|
||
Epub 2024 Nov 28
|
||
doi: 10.1016/j.ejogrb.2024.11.046.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39616806" target="_blank">39616806</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22GNE%20myopathy%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
|
||
</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_106">
|
||
<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>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1853926%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (37)</a></li>
|
||
<li><a href="/gtr/tests?term=C1853926%5bDISCUI%5d&filter=method%3A1%5F2" target="_blank">Enzyme assay (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C1853926%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (16)</a></li>
|
||
<li><a href="/gtr/tests?term=C1853926%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (59)</a></li>
|
||
<li><a href="/gtr/tests?term=C1853926%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (17)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1853926%5bDISCUI%5d" target="_blank">See all (74)</a></total></li>
|
||
</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&start=1&limit=10&sort=score%20desc&field=number&search=605820" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=602" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=GNE%20myopathy" 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=(%22gne%20myopathy%22%5Btiab%3A~0%5D)%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><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22GNE%20myopathy%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. 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&start=1&limit=10&sort=score%20desc&field=number&search=603824" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=10020[geneid]" target="_blank">View GNE variations in ClinVar</a></li><li><a href="/nuccore/194294535" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=605820" 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="http://www.diseaseinfosearch.org/Inclusion+body+myopathy+2/3793" target="_blank">Genetic Alliance</a></li><li><a href="http://www.diseaseinfosearch.org/Nonaka+myopathy/5252" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/nonaka_myopathy" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=GNE%20myopathy" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/gne-myopathy" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/9493/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</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/20301439" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=GNE%20myopathy" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=GNE%20myopathy%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" 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&from_uid=381298" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=381298" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1853926[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1853926[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=381298" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=381298" ref="log$=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&from_uid=381298" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=381298" ref="log$=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&from_uid=381298" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=381298" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=381298" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
||
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=381298" ref="log$=recordlinks">PubMed (OMIM)</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&" 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&" 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&" 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&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67ca72a3b15b832ebc35789e">GNE myopathy</a>
|
||
<div class="ralinkpop offscreen_noflow">GNE myopathy<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry two_line">
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