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<meta name="keywords" content="C4025578, finding, late-onset proximal muscle weakness, proximal muscle weakness (later-onset), 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="Lack of strength of the proximal musculature occurring late in the clinical course." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=871110
|
||
ConceptID=C4025578
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Late-onset proximal muscle weakness</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>871110</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.">C4025578</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Proximal muscle weakness (later-onset)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0003694">HP:0003694</a></td></tr>
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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>
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<div class="portlet_content ln">Lack of strength of the proximal musculature occurring late in the clinical course. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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</div>
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<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>
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<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 unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Late-onset proximal muscle weakness</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/1763488" ref="tree=MeSH" title="MedGen record for Abnormality of the musculoskeletal system">Abnormality of the musculoskeletal system</a></span><ul><li><span class="TLline"><a href="/medgen/867380" ref="tree=MeSH" title="MedGen record for Abnormality of the musculature">Abnormality of the musculature</a></span><ul><li><span class="TLline"><a href="/medgen/868777" ref="tree=MeSH" title="MedGen record for Abnormal muscle physiology">Abnormal muscle physiology</a></span><ul><li><span class="TLline"><a href="/medgen/57735" ref="tree=MeSH" title="MedGen record for Muscle weakness">Muscle weakness</a></span><ul><li><span class="TLline"><a href="/medgen/113169" ref="tree=MeSH" title="MedGen record for Proximal muscle weakness">Proximal muscle weakness</a></span><ul><li><span class="matched_ds">Late-onset proximal muscle weakness</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
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||
<div class="portlet mgSection" id="ID_112">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_330449"><div><strong>Desmin-related myofibrillar myopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>330449</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.">C1832370</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Myofibrillar myopathy (MFM) is a noncommittal term that refers to a group of morphologically homogeneous, but genetically heterogeneous chronic neuromuscular disorders. The morphologic changes in skeletal muscle in MFM result from disintegration of the sarcomeric Z disc and the myofibrils, followed by abnormal ectopic accumulation of multiple proteins involved in the structure of the Z disc, including desmin, alpha-B-crystallin (CRYAB; 123590), dystrophin (300377), and myotilin (TTID; 604103). Genetic Heterogeneity of Myofibrillar Myopathy Other forms of MFM include MFM2 (608810), caused by mutation in the CRYAB gene (123590); MFM3 (609200), caused by mutation in the MYOT gene (604103); MFM4 (609452), caused by mutation in the ZASP gene (LDB3; 605906); MFM5 (609524), caused by mutation in the FLNC gene (102565); MFM6 (612954), caused by mutation in the BAG3 gene (603883); MFM7 (617114), caused by mutation in the KY gene (605739); MFM8 (617258), caused by mutation in the PYROXD1 gene (617220); MFM9 (603689), caused by mutation in the TTN gene (188840); MFM10 (619040), caused by mutation in the SVIL UNC45B gene (611220); MFM11 (619178), caused by mutation in the UNC45B gene (611220); MFM12 (619424), caused by mutation in the MYL2 gene (160781); and MFM13 (621078), caused by mutation in the HSPB8 gene (608014). 'Desmin-related myopathy' is another term referring to MFM in which there are intrasarcoplasmic aggregates of desmin, usually in addition to other sarcomeric proteins. Rigid spine syndrome (602771), caused by mutation in the SEPN1 gene (606210), is another desmin-related myopathy. Goebel (1995) provided a review of desmin-related myopathy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/330449">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_324735"><div><strong>Myofibrillar myopathy 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324735</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.">C1837317</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Myofibrillar myopathy-2 (MFM2) is an autosomal dominant muscular disorder characterized by adult onset of progressive muscle weakness affecting both the proximal and distal muscles and associated with respiratory insufficiency, cardiomyopathy, and cataracts. There is phenotypic variability both within and between families (Fardeau et al., 1978; Selcen and Engel, 2003). A homozygous founder mutation in the CRYAB gene has been identified in Canadian aboriginal infants of Cree origin who have a severe fatal infantile hypertonic form of myofibrillar myopathy; see 613869. For a phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324735">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_400595"><div><strong>Finnish upper limb-onset distal myopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400595</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.">C1864706</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Distal myopathy-3 (MPD3) is an autosomal dominant skeletal muscle disorder characterized by adult onset of slowly progressive distal muscular weakness and atrophy affecting the upper and lower limbs, leading to difficulties using the hands and walking difficulties. Proximal muscle involvement may occur later in the disease, but patients typically remain ambulatory. Muscle biopsy shows myopathic changes with rimmed vacuoles (Hackman et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/400595">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_330449" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Desmin-related myofibrillar myopathy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_400595" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Finnish upper limb-onset distal myopathy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_324735" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myofibrillar myopathy 2</a></div></div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_105">
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||
<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>
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||
<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/39879733">Management of presymptomatic juvenile patients with late-onset Pompe disease (LOPD).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Porcino M,
|
||
Musumeci O,
|
||
Usbergo C,
|
||
Pugliese A,
|
||
Arena IG,
|
||
Rodolico C,
|
||
Schoser B,
|
||
Toscano A</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2025 Feb;47:105277.
|
||
Epub 2025 Jan 14
|
||
doi: 10.1016/j.nmd.2025.105277.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39879733" target="_blank">39879733</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30878973">Selective screening of late-onset Pompe disease (LOPD) in patients with non-diagnostic muscle biopsies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meznaric M,
|
||
Fumic K,
|
||
Leonardis L</span><br />
|
||
<span class="medgenPMjournal">J Clin Pathol</span>
|
||
2019 Jul;72(7):468-472.
|
||
Epub 2019 Mar 16
|
||
doi: 10.1136/jclinpath-2018-205446.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30878973" target="_blank">30878973</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27763517">Practical Recommendations for Diagnosis and Management of Respiratory Muscle Weakness in Late-Onset Pompe Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boentert M,
|
||
Prigent H,
|
||
Várdi K,
|
||
Jones HN,
|
||
Mellies U,
|
||
Simonds AK,
|
||
Wenninger S,
|
||
Barrot Cortés E,
|
||
Confalonieri M</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2016 Oct 17;17(10)
|
||
doi: 10.3390/ijms17101735.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27763517" target="_blank">27763517</a><a href="/pmc/articles/PMC5085764" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(late-onset%20proximal%20muscle%20weakness)%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/39227307">High-risk screening for late-onset Pompe disease in China: An expanded multicenter study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jiao K,
|
||
Zhu B,
|
||
Chang X,
|
||
Guo J,
|
||
Fu J,
|
||
Song X,
|
||
Yu X,
|
||
Zhang X,
|
||
Dong J,
|
||
Yan W,
|
||
Luan X,
|
||
Wang Z,
|
||
Han H,
|
||
Du L,
|
||
Yu L,
|
||
Zhang Y,
|
||
Zhang J,
|
||
Chen Y,
|
||
Hu J,
|
||
Zhao Z,
|
||
Kang J,
|
||
Tan S,
|
||
Wang Z,
|
||
Mao S,
|
||
Qian F,
|
||
Luo R,
|
||
Liu C,
|
||
Huang Z,
|
||
Li G,
|
||
Li X,
|
||
Luo L,
|
||
Li D,
|
||
Zhou Y,
|
||
Hu X,
|
||
Yu X,
|
||
Shi Y,
|
||
Jiang J,
|
||
Zhang J,
|
||
Cheng N,
|
||
Wang N,
|
||
Xia X,
|
||
Yue D,
|
||
Gao M,
|
||
Xi J,
|
||
Luo S,
|
||
Lu J,
|
||
Zhao C,
|
||
Ke Q,
|
||
Ma M,
|
||
Zhu W</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2025 Jan;48(1):e12793.
|
||
Epub 2024 Sep 3
|
||
doi: 10.1002/jimd.12793.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39227307" target="_blank">39227307</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/39017652">Current advance on distal myopathy genetics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ranta-Aho J,
|
||
Johari M,
|
||
Udd B</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Neurol</span>
|
||
2024 Oct 1;37(5):515-522.
|
||
Epub 2024 Jul 16
|
||
doi: 10.1097/WCO.0000000000001299.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39017652" target="_blank">39017652</a><a href="/pmc/articles/PMC11377054" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38513194">Expanding the Clinical Spectrum of DRP2-Associated Charcot-Marie-Tooth Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sivera R,
|
||
Pelayo-Negro AL,
|
||
Jericó I,
|
||
Domínguez-González C,
|
||
Horga A,
|
||
Rodriguez De Rivera FJ,
|
||
Gallardo E,
|
||
Tembl JI,
|
||
Bermejo-Guerrero L,
|
||
Pagola Lorz MI,
|
||
Azorín I,
|
||
Cordoba M,
|
||
Fenollar-Cortés MDM,
|
||
Millet E,
|
||
Vilchez JJ,
|
||
Espinós C,
|
||
Apellániz-Ruiz M,
|
||
Sevilla T</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2024 Apr 9;102(7):e209174.
|
||
Epub 2024 Mar 21
|
||
doi: 10.1212/WNL.0000000000209174.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38513194" target="_blank">38513194</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27763517">Practical Recommendations for Diagnosis and Management of Respiratory Muscle Weakness in Late-Onset Pompe Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boentert M,
|
||
Prigent H,
|
||
Várdi K,
|
||
Jones HN,
|
||
Mellies U,
|
||
Simonds AK,
|
||
Wenninger S,
|
||
Barrot Cortés E,
|
||
Confalonieri M</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2016 Oct 17;17(10)
|
||
doi: 10.3390/ijms17101735.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27763517" target="_blank">27763517</a><a href="/pmc/articles/PMC5085764" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21496636">Distal muscular dystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Udd B</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2011;101:239-62.
|
||
doi: 10.1016/B978-0-08-045031-5.00016-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21496636" target="_blank">21496636</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Late-onset%20proximal%20muscle%20weakness%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 (52)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39017652">Current advance on distal myopathy genetics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ranta-Aho J,
|
||
Johari M,
|
||
Udd B</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Neurol</span>
|
||
2024 Oct 1;37(5):515-522.
|
||
Epub 2024 Jul 16
|
||
doi: 10.1097/WCO.0000000000001299.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39017652" target="_blank">39017652</a><a href="/pmc/articles/PMC11377054" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37856049">Sporadic Late-Onset Nemaline Myopathy: Current Landscape.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nicolau S,
|
||
Milone M</span><br />
|
||
<span class="medgenPMjournal">Curr Neurol Neurosci Rep</span>
|
||
2023 Nov;23(11):777-784.
|
||
Epub 2023 Oct 19
|
||
doi: 10.1007/s11910-023-01311-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37856049" target="_blank">37856049</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28490364">Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schnitzler LJ,
|
||
Schreckenbach T,
|
||
Nadaj-Pakleza A,
|
||
Stenzel W,
|
||
Rushing EJ,
|
||
Van Damme P,
|
||
Ferbert A,
|
||
Petri S,
|
||
Hartmann C,
|
||
Bornemann A,
|
||
Meisel A,
|
||
Petersen JA,
|
||
Tousseyn T,
|
||
Thal DR,
|
||
Reimann J,
|
||
De Jonghe P,
|
||
Martin JJ,
|
||
Van den Bergh PY,
|
||
Schulz JB,
|
||
Weis J,
|
||
Claeys KG</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2017 May 11;12(1):86.
|
||
doi: 10.1186/s13023-017-0640-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28490364" target="_blank">28490364</a><a href="/pmc/articles/PMC5425967" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21496636">Distal muscular dystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Udd B</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2011;101:239-62.
|
||
doi: 10.1016/B978-0-08-045031-5.00016-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21496636" target="_blank">21496636</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19901252">A case of late-onset proximal and distal muscle weakness.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barohn RJ,
|
||
Watts GD,
|
||
Amato AA</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2009 Nov 10;73(19):1592-7.
|
||
doi: 10.1212/WNL.0b013e3181c0d4cb.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19901252" target="_blank">19901252</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Late-onset%20proximal%20muscle%20weakness%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 (99)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39245687">Non-invasive optoacoustic imaging of glycogen-storage and muscle degeneration in late-onset Pompe disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tan L,
|
||
Zschüntzsch J,
|
||
Meyer S,
|
||
Stobbe A,
|
||
Bruex H,
|
||
Regensburger AP,
|
||
Claßen M,
|
||
Alves F,
|
||
Jüngert J,
|
||
Rother U,
|
||
Li Y,
|
||
Danko V,
|
||
Lang W,
|
||
Türk M,
|
||
Schmidt S,
|
||
Vorgerd M,
|
||
Schlaffke L,
|
||
Woelfle J,
|
||
Hahn A,
|
||
Mensch A,
|
||
Winterholler M,
|
||
Trollmann R,
|
||
Heiß R,
|
||
Wagner AL,
|
||
Raming R,
|
||
Knieling F</span><br />
|
||
<span class="medgenPMjournal">Nat Commun</span>
|
||
2024 Sep 8;15(1):7843.
|
||
doi: 10.1038/s41467-024-52143-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39245687" target="_blank">39245687</a><a href="/pmc/articles/PMC11381542" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37515933">Effects of enzyme replacement therapy on bone density in late onset Pompe disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Avanti M,
|
||
Martin A,
|
||
Columbres RC,
|
||
Mozaffar T,
|
||
Kimonis V</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2023 Nov;140(3):107644.
|
||
Epub 2023 Jun 28
|
||
doi: 10.1016/j.ymgme.2023.107644.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37515933" target="_blank">37515933</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36302669">Motor Function Characteristics of Adults With Late-Onset Pompe Disease: A Systematic Scoping Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maulet T,
|
||
Bonnyaud C,
|
||
Weill C,
|
||
Laforêt P,
|
||
Cattagni T</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2023 Jan 3;100(1):e72-e83.
|
||
Epub 2022 Oct 27
|
||
doi: 10.1212/WNL.0000000000201333.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36302669" target="_blank">36302669</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33799647">Muscle Proteomic Profile before and after Enzyme Replacement Therapy in Late-Onset Pompe Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moriggi M,
|
||
Capitanio D,
|
||
Torretta E,
|
||
Barbacini P,
|
||
Bragato C,
|
||
Sartori P,
|
||
Moggio M,
|
||
Maggi L,
|
||
Mora M,
|
||
Gelfi C</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2021 Mar 11;22(6)
|
||
doi: 10.3390/ijms22062850.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33799647" target="_blank">33799647</a><a href="/pmc/articles/PMC8001152" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28185884">The emerging phenotype of late-onset Pompe disease: A systematic literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chan J,
|
||
Desai AK,
|
||
Kazi ZB,
|
||
Corey K,
|
||
Austin S,
|
||
Hobson-Webb LD,
|
||
Case LE,
|
||
Jones HN,
|
||
Kishnani PS</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2017 Mar;120(3):163-172.
|
||
Epub 2016 Dec 11
|
||
doi: 10.1016/j.ymgme.2016.12.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28185884" target="_blank">28185884</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Late-onset%20proximal%20muscle%20weakness%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/39879733">Management of presymptomatic juvenile patients with late-onset Pompe disease (LOPD).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Porcino M,
|
||
Musumeci O,
|
||
Usbergo C,
|
||
Pugliese A,
|
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Hu J,
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Zhao Z,
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Tan S,
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Mao S,
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Liu C,
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Li G,
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Li X,
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Li D,
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Hu X,
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Yu X,
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Zhang J,
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Cheng N,
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Wang N,
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Xia X,
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Yue D,
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Gao M,
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Xi J,
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Luo S,
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Lu J,
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Ke Q,
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Ma M,
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Zhu W</span><br />
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2025 Jan;48(1):e12793.
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Epub 2024 Sep 3
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<span class="bold">PMID: </span><a href="/pubmed/39227307" target="_blank">39227307</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/39245687">Non-invasive optoacoustic imaging of glycogen-storage and muscle degeneration in late-onset Pompe disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Tan L,
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Li Y,
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<div class="nl"><a target="_blank" href="/pubmed/38513194">Expanding the Clinical Spectrum of DRP2-Associated Charcot-Marie-Tooth Disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Sivera R,
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Jericó I,
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Horga A,
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Azorín I,
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Millet E,
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2024 Apr 9;102(7):e209174.
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Epub 2024 Mar 21
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doi: 10.1212/WNL.0000000000209174.
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||
<span class="bold">PMID: </span><a href="/pubmed/38513194" target="_blank">38513194</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/36302669">Motor Function Characteristics of Adults With Late-Onset Pompe Disease: A Systematic Scoping Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Maulet T,
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2023 Jan 3;100(1):e72-e83.
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Epub 2022 Oct 27
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doi: 10.1212/WNL.0000000000201333.
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||
<span class="bold">PMID: </span><a href="/pubmed/36302669" target="_blank">36302669</a></div>
|
||
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||
<div class="nl"><a target="_blank" href="/pubmed/7818252">Late-onset mitochondrial myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Johnston W,
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Karpati G,
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Carpenter S,
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Arnold D,
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Shoubridge EA</span><br />
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doi: 10.1002/ana.410370106.
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<span class="bold">PMID: </span><a href="/pubmed/7818252" target="_blank">7818252</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Late-onset%20proximal%20muscle%20weakness%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 (40)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/36809201">Neuropathy, Ataxia, and Retinitis Pigmentosa Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Finsterer J</span><br />
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||
<span class="medgenPMjournal">J Clin Neuromuscul Dis</span>
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||
2023 Mar 1;24(3):140-146.
|
||
doi: 10.1097/CND.0000000000000422.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36809201" target="_blank">36809201</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28185884">The emerging phenotype of late-onset Pompe disease: A systematic literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chan J,
|
||
Desai AK,
|
||
Kazi ZB,
|
||
Corey K,
|
||
Austin S,
|
||
Hobson-Webb LD,
|
||
Case LE,
|
||
Jones HN,
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||
Kishnani PS</span><br />
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<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2017 Mar;120(3):163-172.
|
||
Epub 2016 Dec 11
|
||
doi: 10.1016/j.ymgme.2016.12.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28185884" target="_blank">28185884</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16546580">A systematic review of adult-onset clinically amyopathic dermatomyositis (dermatomyositis siné myositis): a missing link within the spectrum of the idiopathic inflammatory myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gerami P,
|
||
Schope JM,
|
||
McDonald L,
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Walling HW,
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||
Sontheimer RD</span><br />
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2006 Apr;54(4):597-613.
|
||
Epub 2006 Jan 23
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<span class="bold">PMID: </span><a href="/pubmed/16546580" target="_blank">16546580</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Late-onset%20proximal%20muscle%20weakness%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 (3)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(late-onset%20proximal%20muscle%20weakness)%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(%22Late-onset%20proximal%20muscle%20weakness%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>
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<a href="https://www.google.com/maps/place/8600+Rockville+Pike,+Bethesda,+MD+20894/@38.9959508,-77.101021,17z/data=!3m1!4b1!4m5!3m4!1s0x89b7c95e25765ddb:0x19156f88b27635b8!8m2!3d38.9959508!4d-77.0988323" class="text-white" target="_blank" rel="noopener noreferrer">8600 Rockville Pike<br />
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Bethesda, MD 20894</a></p>
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<p><a href="https://www.nlm.nih.gov/web_policies.html" class="text-white">Web Policies</a><br />
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<p><a class="supportLink text-white" href="https://support.nlm.nih.gov/">Help</a><br />
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