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<meta name="keywords" content="C5935593, disease or syndrome, gne, thc12, thrombocytopenia 12 with or without 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="Thrombocytopenia-12 with or without myopathy (THC12) is an autosomal recessive disorder characterized by congenital thrombocytopenia apparent from infancy or early childhood. Most affected individuals have bleeding episodes, including petechiae, easy bruising, epistaxis, hematomas, menorrhagia, and increased bleeding after trauma or surgery, although rare patients may have thrombocytopenia without bleeding. Platelets are enlarged (macrothrombocytopenia), and there is an increase of circulating immature platelets, consistent with increased production. Patient platelets show hyposialylation due to GNE mutations, which causes increased removal of platelets from the circulation, shortened platelet lifespan, and resultant thrombocytopenia. In contrast to the thrombocytopenia, which is present since birth or early childhood, features of myopathy usually do not develop until the mid-twenties, similar to Nonaka myopathy (summary by Zhen et al., 2014, Izumi et al., 2014; Bottega et al., 2022). For a discussion of genetic heterogeneity of thrombocytopenia, see THC1 (313900)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=1861803
|
||
ConceptID=C5935593
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Thrombocytopenia 12 with or without myopathy<span class="h1sub">(THC12)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1861803</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:">C5935593</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>THC12</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:0958325" target="_blank">MONDO:0958325</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/620757" target="_blank">620757</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">Thrombocytopenia-12 with or without myopathy (THC12) is an autosomal recessive disorder characterized by congenital thrombocytopenia apparent from infancy or early childhood. Most affected individuals have bleeding episodes, including petechiae, easy bruising, epistaxis, hematomas, menorrhagia, and increased bleeding after trauma or surgery, although rare patients may have thrombocytopenia without bleeding. Platelets are enlarged (macrothrombocytopenia), and there is an increase of circulating immature platelets, consistent with increased production. Patient platelets show hyposialylation due to GNE mutations, which causes increased removal of platelets from the circulation, shortened platelet lifespan, and resultant thrombocytopenia. In contrast to the thrombocytopenia, which is present since birth or early childhood, features of myopathy usually do not develop until the mid-twenties, similar to Nonaka myopathy (summary by Zhen et al., 2014, Izumi et al., 2014; Bottega et al., 2022). For a discussion of genetic heterogeneity of thrombocytopenia, see THC1 (313900). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_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_4996"><div><strong>Epistaxis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4996</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.">C0014591</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4996">Feature record</a> | <a href="/medgen?term=%22Epistaxis%22%5BClinical%20Features%5D%20OR%204996%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_44358"><div><strong>Menorrhagia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44358</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.">C0025323</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/44358">Feature record</a> | <a href="/medgen?term=%22Menorrhagia%22%5BClinical%20Features%5D%20OR%2044358%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_52737"><div><strong>Thrombocytopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52737</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.">C0040034</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction in the number of circulating thrombocytes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52737">Feature record</a> | <a href="/medgen?term=%22Thrombocytopenia%22%5BClinical%20Features%5D%20OR%2052737%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_853131"><div><strong>Increased mean platelet volume</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>853131</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.">C1096367</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Average platelet volume above the upper limit of the normal reference interval.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/853131">Feature record</a> | <a href="/medgen?term=%22Increased%20mean%20platelet%20volume%22%5BClinical%20Features%5D%20OR%20853131%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_816045"><div><strong>Spontaneous, recurrent epistaxis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816045</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.">C3809715</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/816045">Feature record</a> | <a href="/medgen?term=%22Spontaneous%2C%20recurrent%20epistaxis%22%5BClinical%20Features%5D%20OR%20816045%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_870733"><div><strong>Increased megakaryocyte count</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870733</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.">C4025187</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased megakaryocyte number, i.e., of platelet precursor cells, present in the bone marrow.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/870733">Feature record</a> | <a href="/medgen?term=%22Increased%20megakaryocyte%20count%22%5BClinical%20Features%5D%20OR%20870733%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892680"><div><strong>Muscular atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892680</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.">C0541794</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of skeletal muscular atrophy (which is also known as amyotrophy).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892680">Feature record</a> | <a href="/medgen?term=%22Muscular%20atrophy%22%5BClinical%20Features%5D%20OR%20892680%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1814119"><div><strong>Anti-HLA antibody positivity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1814119</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.">C5558385</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Laboratory or Test Result</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen (HLA).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Anti-HLA%20antibody%20positivity%22%5BClinical%20Features%5D%20OR%201814119%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1841771"><div><strong>Anti-platelet antigen antibody positivity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841771</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.">C5826899</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Laboratory or Test Result</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of autoantibodies (immunoglobulins) in the serum that react against antigens present on the surface of thrombocytes such as the glycoproteins GPIIb/IIIa, GPIb/IX, and GPIa/IIa.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Anti-platelet%20antigen%20antibody%20positivity%22%5BClinical%20Features%5D%20OR%201841771%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10680"><div><strong>Petechiae</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10680</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.">C0031256</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10680">Feature record</a> | <a href="/medgen?term=%22Petechiae%22%5BClinical%20Features%5D%20OR%2010680%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_140849"><div><strong>Bruising susceptibility</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140849</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.">C0423798</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140849">Feature record</a> | <a href="/medgen?term=%22Bruising%20susceptibility%22%5BClinical%20Features%5D%20OR%20140849%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 blood and blood-forming tissues</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4996" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epistaxis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_853131" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased mean platelet volume</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870733" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased megakaryocyte count</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_44358" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Menorrhagia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_816045" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spontaneous, recurrent epistaxis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52737" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thrombocytopenia</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1814119" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anti-HLA antibody positivity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1841771" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anti-platelet antigen antibody positivity</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140849" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bruising susceptibility</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10680" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Petechiae</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_892680" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular atrophy</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37542006">Patellar tendinopathy: an overview of prevalence, risk factors, screening, diagnosis, treatment and prevention.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Theodorou A,
|
||
Komnos G,
|
||
Hantes M</span><br />
|
||
<span class="medgenPMjournal">Arch Orthop Trauma Surg</span>
|
||
2023 Nov;143(11):6695-6705.
|
||
Epub 2023 Aug 4
|
||
doi: 10.1007/s00402-023-04998-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37542006" target="_blank">37542006</a><a href="/pmc/articles/PMC10541843" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34409961">International Exercise Recommendations in Older Adults (ICFSR): Expert Consensus Guidelines.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Izquierdo M,
|
||
Merchant RA,
|
||
Morley JE,
|
||
Anker SD,
|
||
Aprahamian I,
|
||
Arai H,
|
||
Aubertin-Leheudre M,
|
||
Bernabei R,
|
||
Cadore EL,
|
||
Cesari M,
|
||
Chen LK,
|
||
de Souto Barreto P,
|
||
Duque G,
|
||
Ferrucci L,
|
||
Fielding RA,
|
||
García-Hermoso A,
|
||
Gutiérrez-Robledo LM,
|
||
Harridge SDR,
|
||
Kirk B,
|
||
Kritchevsky S,
|
||
Landi F,
|
||
Lazarus N,
|
||
Martin FC,
|
||
Marzetti E,
|
||
Pahor M,
|
||
Ramírez-Vélez R,
|
||
Rodriguez-Mañas L,
|
||
Rolland Y,
|
||
Ruiz JG,
|
||
Theou O,
|
||
Villareal DT,
|
||
Waters DL,
|
||
Won Won C,
|
||
Woo J,
|
||
Vellas B,
|
||
Fiatarone Singh M</span><br />
|
||
<span class="medgenPMjournal">J Nutr Health Aging</span>
|
||
2021;25(7):824-853.
|
||
doi: 10.1007/s12603-021-1665-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34409961" target="_blank">34409961</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32203618">Achilles Tendinopathy: Pathophysiology, Epidemiology, Diagnosis, Treatment, Prevention, and Screening.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Knapik JJ,
|
||
Pope R</span><br />
|
||
<span class="medgenPMjournal">J Spec Oper Med</span>
|
||
2020 Spring;20(1):125-140.
|
||
doi: 10.55460/QXTX-A72P.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32203618" target="_blank">32203618</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(thrombocytopenia%2012%20with%20or%20without%20myopathy)%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 (10969)</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/32112656">A mutation update for the FLNC gene in myopathies and cardiomyopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Verdonschot JAJ,
|
||
Vanhoutte EK,
|
||
Claes GRF,
|
||
Helderman-van den Enden ATJM,
|
||
Hoeijmakers JGJ,
|
||
Hellebrekers DMEI,
|
||
de Haan A,
|
||
Christiaans I,
|
||
Lekanne Deprez RH,
|
||
Boen HM,
|
||
van Craenenbroeck EM,
|
||
Loeys BL,
|
||
Hoedemaekers YM,
|
||
Marcelis C,
|
||
Kempers M,
|
||
Brusse E,
|
||
van Waning JI,
|
||
Baas AF,
|
||
Dooijes D,
|
||
Asselbergs FW,
|
||
Barge-Schaapveld DQCM,
|
||
Koopman P,
|
||
van den Wijngaard A,
|
||
Heymans SRB,
|
||
Krapels IPC,
|
||
Brunner HG</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2020 Jun;41(6):1091-1111.
|
||
Epub 2020 Mar 20
|
||
doi: 10.1002/humu.24004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32112656" target="_blank">32112656</a><a href="/pmc/articles/PMC7318287" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30662020">Diagnosis and Management of Statin Intolerance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alonso R,
|
||
Cuevas A,
|
||
Cafferata A</span><br />
|
||
<span class="medgenPMjournal">J Atheroscler Thromb</span>
|
||
2019 Mar 1;26(3):207-215.
|
||
Epub 2019 Jan 19
|
||
doi: 10.5551/jat.RV17030.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30662020" target="_blank">30662020</a><a href="/pmc/articles/PMC6402887" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25037080">A pattern recognition approach to patients with a suspected myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barohn RJ,
|
||
Dimachkie MM,
|
||
Jackson CE</span><br />
|
||
<span class="medgenPMjournal">Neurol Clin</span>
|
||
2014 Aug;32(3):569-93, vii.
|
||
doi: 10.1016/j.ncl.2014.04.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25037080" target="_blank">25037080</a><a href="/pmc/articles/PMC4233647" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23597974">Noninflammatory myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baer AN,
|
||
Wortmann RL</span><br />
|
||
<span class="medgenPMjournal">Rheum Dis Clin North Am</span>
|
||
2013 May;39(2):457-79.
|
||
Epub 2013 Mar 16
|
||
doi: 10.1016/j.rdc.2013.02.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23597974" target="_blank">23597974</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22001973">Statin-induced myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tomaszewski M,
|
||
Stępień KM,
|
||
Tomaszewska J,
|
||
Czuczwar SJ</span><br />
|
||
<span class="medgenPMjournal">Pharmacol Rep</span>
|
||
2011;63(4):859-66.
|
||
doi: 10.1016/s1734-1140(11)70601-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22001973" target="_blank">22001973</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Thrombocytopenia%2012%20with%20or%20without%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 (61514)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36205719">Hoffman myopathy and hypothyroidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Datta AK,
|
||
Mukherjee A,
|
||
Malakar S</span><br />
|
||
<span class="medgenPMjournal">QJM</span>
|
||
2023 Mar 27;116(3):239-240.
|
||
doi: 10.1093/qjmed/hcac231.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36205719" target="_blank">36205719</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36537979">Metabolic Myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tarnopolsky MA</span><br />
|
||
<span class="medgenPMjournal">Continuum (Minneap Minn)</span>
|
||
2022 Dec 1;28(6):1752-1777.
|
||
doi: 10.1212/CON.0000000000001182.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36537979" target="_blank">36537979</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35976321">Inflammatory myopathies: an update for neurologists.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Silva AMS,
|
||
Campos ED,
|
||
Zanoteli E</span><br />
|
||
<span class="medgenPMjournal">Arq Neuropsiquiatr</span>
|
||
2022 May;80(5 Suppl 1):238-248.
|
||
doi: 10.1590/0004-282X-ANP-2022-S131.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35976321" target="_blank">35976321</a><a href="/pmc/articles/PMC9491410" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/26502762">Metabolic Myopathies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Adler M,
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<span class="bold">PMID: </span><a href="/pubmed/26502762" target="_blank">26502762</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/23596213">Proximal myopathy: diagnostic approach and initial management.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Suresh E,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Thrombocytopenia%2012%20with%20or%20without%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 (67117)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/34769118">Statin-Associated Myopathy: Emphasis on Mechanisms and Targeted Therapy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Vinci P,
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Panizon E,
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Tosoni LM,
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Cerrato C,
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Pellicori F,
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Mearelli F,
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Fiotti N,
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Biolo G</span><br />
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<div class="nl"><a target="_blank" href="/pubmed/30662020">Diagnosis and Management of Statin Intolerance.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Alonso R,
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Cuevas A,
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Cafferata A</span><br />
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Epub 2019 Jan 19
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<div class="nl"><a target="_blank" href="/pubmed/29480216">Anti-HMGCR Myopathy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mohassel P,
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<div class="nl"><a target="_blank" href="/pubmed/26886523">Statin-Associated Autoimmune Myopathy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mammen AL</span><br />
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<div class="nl"><a target="_blank" href="/pubmed/22001973">Statin-induced myopathies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Tomaszewski M,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Thrombocytopenia%2012%20with%20or%20without%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 (51169)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/36549354">Systemic sclerosis associated myopathy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Chaigne B,
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<span class="bold">PMID: </span><a href="/pubmed/36549354" target="_blank">36549354</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Latronico N,
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<div class="nl"><a target="_blank" href="/pubmed/19563543">Actinopathies and myosinopathies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Goebel HH,
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<div class="nl"><a target="_blank" href="/pubmed/10658176">Endocrine myopathies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Horak HA,
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<div class="nl"><a target="_blank" href="/pubmed/6067254">Parkinsonism: onset, progression and mortality.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hoehn MM,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Thrombocytopenia%2012%20with%20or%20without%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 (31423)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38801022">Management of immune-mediated necrotizing myopathy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Suh J,
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Amato AA</span><br />
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doi: 10.1002/mus.28114.
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<span class="bold">PMID: </span><a href="/pubmed/38801022" target="_blank">38801022</a></div>
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||
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<div class="nl"><a target="_blank" href="/pubmed/34798316">Immune-mediated necrotizing myopathy (IMNM): A myopathological challenge.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Merlonghi G,
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Antonini G,
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Garibaldi M</span><br />
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<span class="medgenPMjournal">Autoimmun Rev</span>
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2022 Feb;21(2):102993.
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Epub 2021 Nov 16
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<span class="bold">PMID: </span><a href="/pubmed/34798316" target="_blank">34798316</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34769118">Statin-Associated Myopathy: Emphasis on Mechanisms and Targeted Therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vinci P,
|
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Panizon E,
|
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Tosoni LM,
|
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Cerrato C,
|
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Pellicori F,
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Mearelli F,
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Biasinutto C,
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Fiotti N,
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Di Girolamo FG,
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Biolo G</span><br />
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<span class="medgenPMjournal">Int J Mol Sci</span>
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2021 Oct 28;22(21)
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doi: 10.3390/ijms222111687.
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<span class="bold">PMID: </span><a href="/pubmed/34769118" target="_blank">34769118</a><a href="/pmc/articles/PMC8583847" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33360231">Antisynthetase syndrome - much more than just a myopathy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Opinc AH,
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Makowska JS</span><br />
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2021 Feb;51(1):72-83.
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<span class="bold">PMID: </span><a href="/pubmed/33360231" target="_blank">33360231</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/26133937">The Sick and the Weak: Neuropathies/Myopathies in the Critically Ill.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Friedrich O,
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Reid MB,
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Van den Berghe G,
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Vanhorebeek I,
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Hermans G,
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Rich MM,
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||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Thrombocytopenia%2012%20with%20or%20without%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 (42029)</a></div></div>
|
||
</div>
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||
|
||
<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/36901108">Effectiveness of Pain Neuroscience Education in Patients with Chronic Musculoskeletal Pain and Central Sensitization: A Systematic Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lepri B,
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Romani D,
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Storari L,
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Barbari V</span><br />
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<span class="medgenPMjournal">Int J Environ Res Public Health</span>
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2023 Feb 24;20(5)
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doi: 10.3390/ijerph20054098.
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<span class="bold">PMID: </span><a href="/pubmed/36901108" target="_blank">36901108</a><a href="/pmc/articles/PMC10001851" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33024295">Fibromyalgia: an update on clinical characteristics, aetiopathogenesis and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sarzi-Puttini P,
|
||
Giorgi V,
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Marotto D,
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||
Atzeni F</span><br />
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<span class="medgenPMjournal">Nat Rev Rheumatol</span>
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2020 Nov;16(11):645-660.
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||
Epub 2020 Oct 6
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||
doi: 10.1038/s41584-020-00506-w.
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||
<span class="bold">PMID: </span><a href="/pubmed/33024295" target="_blank">33024295</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32219926">Tropical pyomyositis: an update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shittu A,
|
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Deinhardt-Emmer S,
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Vas Nunes J,
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Niemann S,
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Grobusch MP,
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Schaumburg F</span><br />
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<span class="medgenPMjournal">Trop Med Int Health</span>
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2020 Jun;25(6):660-665.
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Epub 2020 Apr 16
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doi: 10.1111/tmi.13395.
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<span class="bold">PMID: </span><a href="/pubmed/32219926" target="_blank">32219926</a></div>
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||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31543413">Management of lateral epicondylitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lenoir H,
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Mares O,
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Carlier Y</span><br />
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<span class="medgenPMjournal">Orthop Traumatol Surg Res</span>
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2019 Dec;105(8S):S241-S246.
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Epub 2019 Sep 19
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doi: 10.1016/j.otsr.2019.09.004.
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||
<span class="bold">PMID: </span><a href="/pubmed/31543413" target="_blank">31543413</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27283590">Manual therapy and exercise for rotator cuff disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Page MJ,
|
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Green S,
|
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McBain B,
|
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Surace SJ,
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Deitch J,
|
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Lyttle N,
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Mrocki MA,
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Buchbinder R</span><br />
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<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
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<span class="bold">PMID: </span><a href="/pubmed/27283590" target="_blank">27283590</a><a href="/pmc/articles/PMC8570640" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Thrombocytopenia%2012%20with%20or%20without%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 (3676)</a></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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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C5935593%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C5935593%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C5935593%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C5935593%5bDISCUI%5d" target="_blank">See all (1)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=620757" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Thrombocytopenia%2012%20with%20or%20without%20myopathy" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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