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<meta name="keywords" content="C1836156, finding, muscle weakness, progressive, proximal, muscle weakness, proximal, progressive, progressive proximal muscle weakness, 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 muscles that becomes progressively more severe." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Progressive proximal muscle weakness (Concept Id: C1836156)
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<!--
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UID=322841
|
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ConceptID=C1836156
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Progressive proximal muscle weakness</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322841</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:">C1836156</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Muscle weakness, progressive, proximal; Muscle weakness, proximal, progressive</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0009073">HP:0009073</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>
|
||
<div class="portlet_content ln">Lack of strength of the proximal muscles that becomes progressively more severe. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
||
</div>
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<div class="portlet mgSection" id="ID_118">
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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="TLline">Progressive 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">Progressive proximal muscle weakness</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<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>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_341162"><div><strong>X-linked immunoneurologic disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341162</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.">C1848144</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A syndrome with characteristics of immune deficiency and neurological disorders in females and neonatal death in males. The syndrome has been described in only one family with nine affected individuals (five males and four females) spanning two generations. Symptomatic females present slowly progressive proximal muscle weakness, leg hyperreflexia, pes cavus, increased muscle tone in the legs, poor bladder function, static reduced night vision and frequent sinopulmonary infections associated with IgG2 deficiency. Males present with low birth weight and severe hypotonia that leads to death in the neonatal period. The gene locus has been mapped to Xq26-qter.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341162">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_338045"><div><strong>Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338045</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.">C1850406</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">MPV17-related mitochondrial DNA (mtDNA) maintenance defect presents in the vast majority of affected individuals as an early-onset encephalohepatopathic (hepatocerebral) disease that is typically associated with mtDNA depletion, particularly in the liver. A later-onset neuromyopathic disease characterized by myopathy and neuropathy, and associated with multiple mtDNA deletions in muscle, has also rarely been described. MPV17-related mtDNA maintenance defect, encephalohepatopathic form is characterized by: Hepatic manifestations (liver dysfunction that typically progresses to liver failure, cholestasis, hepatomegaly, and steatosis); Neurologic involvement (developmental delay, hypotonia, microcephaly, and motor and sensory peripheral neuropathy); Gastrointestinal manifestations (gastrointestinal dysmotility, feeding difficulties, and failure to thrive); and Metabolic derangements (lactic acidosis and hypoglycemia). Less frequent manifestations include renal tubulopathy, nephrocalcinosis, and hypoparathyroidism. Progressive liver disease often leads to death in infancy or early childhood. Hepatocellular carcinoma has been reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338045">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1641069"><div><strong>Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1641069</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.">C4551951</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inclusion body myopathy associated with Paget disease of bone (PDB) and/or frontotemporal dementia (IBMPFD) is characterized by adult-onset proximal and distal muscle weakness (clinically resembling a limb-girdle muscular dystrophy syndrome), early-onset PDB, and premature frontotemporal dementia (FTD). Muscle weakness progresses to involve other limb and respiratory muscles. PDB involves focal areas of increased bone turnover that typically lead to spine and/or hip pain and localized enlargement and deformity of the long bones; pathologic fractures occur on occasion. Early stages of FTD are characterized by dysnomia, dyscalculia, comprehension deficits, and paraphasic errors, with minimal impairment of episodic memory; later stages are characterized by inability to speak, auditory comprehension deficits for even one-step commands, alexia, and agraphia. Mean age at diagnosis for muscle disease and PDB is 42 years; for FTD, 56 years. Dilated cardiomyopathy, amyotrophic lateral sclerosis, and Parkinson disease are now known to be part of the spectrum of findings associated with IBMPFD.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1641069">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648314"><div><strong>Myofibrillar myopathy 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648314</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.">C4721886</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Myofibrillar myopathy-4 (MFM4) is an autosomal dominant disorder characterized by adult-onset distal muscle weakness primarily affecting the lower limbs at onset. Affected individuals usually present with gait difficulties in their forties, followed by slow progression with eventual involvement of the hands and proximal muscles of the lower limbs. Rare patients may develop cardiomyopathy. Skeletal muscle biopsy shows myopathic changes with myofibrillar changes (Selcen and Engel, 2005; Griggs et al., 2007). 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/1648314">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1824033"><div><strong>Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824033</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.">C5774260</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis-1 (MMCKR1) is an autosomal recessive skeletal muscle disorder characterized by the onset of muscle cramping and stiffness on exertion in infancy or early childhood, although later (even adult) onset has also been reported. The features remit with rest, but some individuals develop mild proximal or distal muscle weakness. Rare affected individuals may demonstrate cardiac involvement, including left ventricular dysfunction or rhythm abnormalities. Laboratory studies show increased baseline serum creatine kinase levels with episodic spikes that may coincide with rhabdomyolysis. EMG shows myopathic changes, and muscle biopsy shows nonspecific myopathic or degenerative features (Lopes Abath Neto et al., 2021; Salzer-Sheelo et al., 2022). Genetic Heterogeneity of Myopathy with Myalgia, Increased Serum Creatine Kinase, and with or without Episodic Rhabdomyolysis MMCKR2 (620971) is caused by mutation in the DTNA gene (601239) on chromosome 18q12.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1824033">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1641069" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338045" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648314" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myofibrillar myopathy 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824033" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341162" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked immunoneurologic disorder</a></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/35208537">The Safety and Efficacy of Nusinersen in the Treatment of Spinal Muscular Atrophy: A Systematic Review and Meta-Analysis of Randomized Controlled Trials.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abbas KS,
|
||
Eltaras MM,
|
||
El-Shahat NA,
|
||
Abdelazeem B,
|
||
Shaqfeh M,
|
||
Brašić JR</span><br />
|
||
<span class="medgenPMjournal">Medicina (Kaunas)</span>
|
||
2022 Feb 1;58(2)
|
||
doi: 10.3390/medicina58020213.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35208537" target="_blank">35208537</a><a href="/pmc/articles/PMC8874456" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31271088">Spinal muscular dystrophy - a revisit of the diagnosis and treatment modalities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Srivastava G,
|
||
Srivastava P</span><br />
|
||
<span class="medgenPMjournal">Int J Neurosci</span>
|
||
2019 Nov;129(11):1103-1118.
|
||
Epub 2019 Jul 4
|
||
doi: 10.1080/00207454.2019.1635128.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31271088" target="_blank">31271088</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23448387">Molecular prenatal diagnosis of autosomal recessive spinal muscular atrophies using quantification polymerase chain reaction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jiang W,
|
||
Ji X,
|
||
Xu Y,
|
||
Qu X,
|
||
Sun W,
|
||
Yang Z,
|
||
Tao J,
|
||
Chen Y</span><br />
|
||
<span class="medgenPMjournal">Genet Test Mol Biomarkers</span>
|
||
2013 May;17(5):438-42.
|
||
Epub 2013 Feb 28
|
||
doi: 10.1089/gtmb.2012.0481.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23448387" target="_blank">23448387</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22progressive%20proximal%20muscle%20weakness%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 (4)</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/38759023">Six Years Follow-Up of an 11-Year-Old Girl with Anti-HMGCR Myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cavusoglu D,
|
||
Talim B,
|
||
Ekinci G,
|
||
Topaloglu H</span><br />
|
||
<span class="medgenPMjournal">J Neuromuscul Dis</span>
|
||
2024;11(4):883-887.
|
||
doi: 10.3233/JND-240022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38759023" target="_blank">38759023</a><a href="/pmc/articles/PMC11307026" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35208537">The Safety and Efficacy of Nusinersen in the Treatment of Spinal Muscular Atrophy: A Systematic Review and Meta-Analysis of Randomized Controlled Trials.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abbas KS,
|
||
Eltaras MM,
|
||
El-Shahat NA,
|
||
Abdelazeem B,
|
||
Shaqfeh M,
|
||
Brašić JR</span><br />
|
||
<span class="medgenPMjournal">Medicina (Kaunas)</span>
|
||
2022 Feb 1;58(2)
|
||
doi: 10.3390/medicina58020213.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35208537" target="_blank">35208537</a><a href="/pmc/articles/PMC8874456" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26429706">Idiopathic Inflammatory Myopathies and Malignancy: a Comprehensive Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tiniakou E,
|
||
Mammen AL</span><br />
|
||
<span class="medgenPMjournal">Clin Rev Allergy Immunol</span>
|
||
2017 Feb;52(1):20-33.
|
||
doi: 10.1007/s12016-015-8511-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26429706" target="_blank">26429706</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22424191">Idiopathic inflammatory myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vincze M,
|
||
Danko K</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Rheumatol</span>
|
||
2012 Feb;26(1):25-45.
|
||
doi: 10.1016/j.berh.2012.01.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22424191" target="_blank">22424191</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22047105">Spinal muscular atrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">D'Amico A,
|
||
Mercuri E,
|
||
Tiziano FD,
|
||
Bertini E</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2011 Nov 2;6:71.
|
||
doi: 10.1186/1750-1172-6-71.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22047105" target="_blank">22047105</a><a href="/pmc/articles/PMC3231874" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%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 (29)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38899746">Identification of common mechanisms and biomarkers for dermatomyositis and atherosclerosis based on bioinformatics analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ma Y,
|
||
Lai J,
|
||
Wan Q,
|
||
Chen Z,
|
||
Sun L,
|
||
Zhang Q,
|
||
Guan C,
|
||
Li Q,
|
||
Wu J</span><br />
|
||
<span class="medgenPMjournal">Skin Res Technol</span>
|
||
2024 Jun;30(6):e13808.
|
||
doi: 10.1111/srt.13808.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38899746" target="_blank">38899746</a><a href="/pmc/articles/PMC11187814" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28608304">Lambert-Eaton myasthenic syndrome (LEMS): a rare autoimmune presynaptic disorder often associated with cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schoser B,
|
||
Eymard B,
|
||
Datt J,
|
||
Mantegazza R</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2017 Sep;264(9):1854-1863.
|
||
Epub 2017 Jun 12
|
||
doi: 10.1007/s00415-017-8541-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28608304" target="_blank">28608304</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22424191">Idiopathic inflammatory myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vincze M,
|
||
Danko K</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Rheumatol</span>
|
||
2012 Feb;26(1):25-45.
|
||
doi: 10.1016/j.berh.2012.01.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22424191" target="_blank">22424191</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22047105">Spinal muscular atrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">D'Amico A,
|
||
Mercuri E,
|
||
Tiziano FD,
|
||
Bertini E</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2011 Nov 2;6:71.
|
||
doi: 10.1186/1750-1172-6-71.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22047105" target="_blank">22047105</a><a href="/pmc/articles/PMC3231874" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21496623">Sarcoglycanopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kirschner J,
|
||
Lochmüller H</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2011;101:41-6.
|
||
doi: 10.1016/B978-0-08-045031-5.00003-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21496623" target="_blank">21496623</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%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 (72)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38759023">Six Years Follow-Up of an 11-Year-Old Girl with Anti-HMGCR Myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cavusoglu D,
|
||
Talim B,
|
||
Ekinci G,
|
||
Topaloglu H</span><br />
|
||
<span class="medgenPMjournal">J Neuromuscul Dis</span>
|
||
2024;11(4):883-887.
|
||
doi: 10.3233/JND-240022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38759023" target="_blank">38759023</a><a href="/pmc/articles/PMC11307026" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37962196">Plasma Exchange in Patients With Myositis due to Immune Checkpoint Inhibitor Therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Katyal N,
|
||
Katsumoto TR,
|
||
Ramachandran KJ,
|
||
Yunce M,
|
||
Muppidi S</span><br />
|
||
<span class="medgenPMjournal">J Clin Neuromuscul Dis</span>
|
||
2023 Dec 1;25(2):89-93.
|
||
Epub 2023 Nov 13
|
||
doi: 10.1097/CND.0000000000000457.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37962196" target="_blank">37962196</a><a href="/pmc/articles/PMC10645099" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36544374">Progressive proximal muscle weakness with subacute onset in an elderly patient: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martins A,
|
||
Nadais G,
|
||
Pinto M,
|
||
Taipa R,
|
||
Costa L,
|
||
Pimenta S</span><br />
|
||
<span class="medgenPMjournal">Rev Neurol</span>
|
||
2023 Jan 1;76(1):31-34.
|
||
doi: 10.33588/rn.7601.2021276.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36544374" target="_blank">36544374</a><a href="/pmc/articles/PMC10364018" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35208537">The Safety and Efficacy of Nusinersen in the Treatment of Spinal Muscular Atrophy: A Systematic Review and Meta-Analysis of Randomized Controlled Trials.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abbas KS,
|
||
Eltaras MM,
|
||
El-Shahat NA,
|
||
Abdelazeem B,
|
||
Shaqfeh M,
|
||
Brašić JR</span><br />
|
||
<span class="medgenPMjournal">Medicina (Kaunas)</span>
|
||
2022 Feb 1;58(2)
|
||
doi: 10.3390/medicina58020213.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35208537" target="_blank">35208537</a><a href="/pmc/articles/PMC8874456" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27611456">Clinicopathological Features of Telbivudine-Associated Myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ambang T,
|
||
Tan JS,
|
||
Ong S,
|
||
Wong KT,
|
||
Goh KJ</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2016;11(9):e0162760.
|
||
Epub 2016 Sep 9
|
||
doi: 10.1371/journal.pone.0162760.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27611456" target="_blank">27611456</a><a href="/pmc/articles/PMC5017711" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%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 (33)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38899746">Identification of common mechanisms and biomarkers for dermatomyositis and atherosclerosis based on bioinformatics analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ma Y,
|
||
Lai J,
|
||
Wan Q,
|
||
Chen Z,
|
||
Sun L,
|
||
Zhang Q,
|
||
Guan C,
|
||
Li Q,
|
||
Wu J</span><br />
|
||
<span class="medgenPMjournal">Skin Res Technol</span>
|
||
2024 Jun;30(6):e13808.
|
||
doi: 10.1111/srt.13808.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38899746" target="_blank">38899746</a><a href="/pmc/articles/PMC11187814" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38759023">Six Years Follow-Up of an 11-Year-Old Girl with Anti-HMGCR Myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cavusoglu D,
|
||
Talim B,
|
||
Ekinci G,
|
||
Topaloglu H</span><br />
|
||
<span class="medgenPMjournal">J Neuromuscul Dis</span>
|
||
2024;11(4):883-887.
|
||
doi: 10.3233/JND-240022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38759023" target="_blank">38759023</a><a href="/pmc/articles/PMC11307026" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35098272">The changing therapeutic landscape of spinal muscular atrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Davidson JE,
|
||
Farrar MA</span><br />
|
||
<span class="medgenPMjournal">Aust J Gen Pract</span>
|
||
2022 Jan-Feb;51(1-2):38-42.
|
||
doi: 10.31128/AJGP-03-21-5924.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35098272" target="_blank">35098272</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22047105">Spinal muscular atrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">D'Amico A,
|
||
Mercuri E,
|
||
Tiziano FD,
|
||
Bertini E</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2011 Nov 2;6:71.
|
||
doi: 10.1186/1750-1172-6-71.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22047105" target="_blank">22047105</a><a href="/pmc/articles/PMC3231874" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21496623">Sarcoglycanopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kirschner J,
|
||
Lochmüller H</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2011;101:41-6.
|
||
doi: 10.1016/B978-0-08-045031-5.00003-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21496623" target="_blank">21496623</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%20proximal%20muscle%20weakness%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 (22)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38899746">Identification of common mechanisms and biomarkers for dermatomyositis and atherosclerosis based on bioinformatics analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ma Y,
|
||
Lai J,
|
||
Wan Q,
|
||
Chen Z,
|
||
Sun L,
|
||
Zhang Q,
|
||
Guan C,
|
||
Li Q,
|
||
Wu J</span><br />
|
||
<span class="medgenPMjournal">Skin Res Technol</span>
|
||
2024 Jun;30(6):e13808.
|
||
doi: 10.1111/srt.13808.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38899746" target="_blank">38899746</a><a href="/pmc/articles/PMC11187814" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35208537">The Safety and Efficacy of Nusinersen in the Treatment of Spinal Muscular Atrophy: A Systematic Review and Meta-Analysis of Randomized Controlled Trials.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abbas KS,
|
||
Eltaras MM,
|
||
El-Shahat NA,
|
||
Abdelazeem B,
|
||
Shaqfeh M,
|
||
Brašić JR</span><br />
|
||
<span class="medgenPMjournal">Medicina (Kaunas)</span>
|
||
2022 Feb 1;58(2)
|
||
doi: 10.3390/medicina58020213.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35208537" target="_blank">35208537</a><a href="/pmc/articles/PMC8874456" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31130377">Central drive and ventilatory failure in late-onset Pompe disease: At the gates of a new phenotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">De Vito EL,
|
||
Arce SC,
|
||
Monteiro SG,
|
||
Vaca Ruiz GA</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2019 Jun;29(6):444-447.
|
||
Epub 2019 Mar 21
|
||
doi: 10.1016/j.nmd.2019.03.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31130377" target="_blank">31130377</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22961544">Pathophysiology of protein aggregation and extended phenotyping in filaminopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kley RA,
|
||
Serdaroglu-Oflazer P,
|
||
Leber Y,
|
||
Odgerel Z,
|
||
van der Ven PF,
|
||
Olivé M,
|
||
Ferrer I,
|
||
Onipe A,
|
||
Mihaylov M,
|
||
Bilbao JM,
|
||
Lee HS,
|
||
Höhfeld J,
|
||
Djinović-Carugo K,
|
||
Kong K,
|
||
Tegenthoff M,
|
||
Peters SA,
|
||
Stenzel W,
|
||
Vorgerd M,
|
||
Goldfarb LG,
|
||
Fürst DO</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2012 Sep;135(Pt 9):2642-60.
|
||
doi: 10.1093/brain/aws200.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22961544" target="_blank">22961544</a><a href="/pmc/articles/PMC3437028" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21321956">Clinical and pathological features in 15 Chinese patients with calpainopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Luo SS,
|
||
Xi JY,
|
||
Lu JH,
|
||
Zhao CB,
|
||
Zhu WH,
|
||
Lin J,
|
||
Wang Y,
|
||
Ren HM,
|
||
Yin B,
|
||
Andoni UJ</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2011 Mar;43(3):402-9.
|
||
Epub 2010 Dec 9
|
||
doi: 10.1002/mus.21908.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21321956" target="_blank">21321956</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%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 (14)</a></div></div>
|
||
</div>
|
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|
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<div class="portlet mgSection" id="ID_104">
|
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<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>
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<div class="portlet_content ln">
|
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<div class="nl"><a target="_blank" href="/pubmed/35208537">The Safety and Efficacy of Nusinersen in the Treatment of Spinal Muscular Atrophy: A Systematic Review and Meta-Analysis of Randomized Controlled Trials.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abbas KS,
|
||
Eltaras MM,
|
||
El-Shahat NA,
|
||
Abdelazeem B,
|
||
Shaqfeh M,
|
||
Brašić JR</span><br />
|
||
<span class="medgenPMjournal">Medicina (Kaunas)</span>
|
||
2022 Feb 1;58(2)
|
||
doi: 10.3390/medicina58020213.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35208537" target="_blank">35208537</a><a href="/pmc/articles/PMC8874456" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Progressive%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 (1)</a></div></div>
|
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|
||
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67ce99d384f3725e5975b6a6">Progressive proximal muscle weakness</a>
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<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67ce99d1f4a390645e7bf34d">C1836156[conceptid] <span class="number">(1)</span></a>
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