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<meta name="keywords" content="C0027126, atrophica, myotonia, atrophicas, myotonia, disease or syndrome, disease, steinert, disease, steinert's, dm - dystrophia myotonica, dystrophia myotonica, dystrophia myotonica 1, dystrophia myotonicas, dystrophica, myotonia, dystrophicas, myotonia, dystrophies, myotonic, dystrophy, myotonic, dystrophy, steinert myotonic, inherited myotonic dystrophy, myotonia atrophica, myotonia atrophicas, myotonia dystrophica, myotonia dystrophicas, myotonic disease, myotonic dystrophies, myotonic dystrophy, myotonic dystrophy 1, myotonic dystrophy, steinert, myotonica, dystrophia, myotonicas, dystrophia, steinert disease, steinert myotonic dystrophy, steinert's disease, steinerts disease, 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="Myotonic dystrophy is an autosomal dominant disorder characterized mainly by myotonia, muscular dystrophy, cataracts, hypogonadism, frontal balding, and ECG changes. The genetic defect in DM1 results from an amplified trinucleotide repeat in the 3-prime untranslated region of a protein kinase gene. Disease severity varies with the number of repeats: normal individuals have 5 to 37 repeats, mildly affected persons have 50 to 150 repeats, patients with classic DM have 100 to 1,000 repeats, and those with onset at birth can have more than 2,000 repeats. The disorder shows genetic anticipation, with expansion of the repeat number dependent on the sex of the transmitting parent. Alleles of 40 to 80 repeats are usually expanded when transmitted by males, whereas only alleles longer than 80 repeats tend to expand in maternal transmissions. Repeat contraction events occur 4.2 to 6.4% of the time (Musova et al., 2009). Genetic Heterogeneity of Myotonic Dystrophy See also myotonic dystrophy-2 (DM2; 602668), which is caused by mutation in the ZNF9 gene (116955) on chromosome 3q21." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=10239
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ConceptID=C0027126
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Myotonic dystrophy</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10239</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:">C0027126</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>DYSTROPHIA MYOTONICA; Myotonia atrophica</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>DM - dystrophia myotonica (1177122009); Myotonia dystrophica (1177122009); Myotonic dystrophy (1177122009); Dystrophia myotonica (1177122009)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0016107" target="_blank">MONDO:0016107</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS160900" target="_blank">PS160900</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=206647">ORPHA206647</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>
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||
<div class="portlet_content ln">Myotonic dystrophy is an autosomal dominant disorder characterized mainly by myotonia, muscular dystrophy, cataracts, hypogonadism, frontal balding, and ECG changes. The genetic defect in DM1 results from an amplified trinucleotide repeat in the 3-prime untranslated region of a protein kinase gene. Disease severity varies with the number of repeats: normal individuals have 5 to 37 repeats, mildly affected persons have 50 to 150 repeats, patients with classic DM have 100 to 1,000 repeats, and those with onset at birth can have more than 2,000 repeats. The disorder shows genetic anticipation, with expansion of the repeat number dependent on the sex of the transmitting parent. Alleles of 40 to 80 repeats are usually expanded when transmitted by males, whereas only alleles longer than 80 repeats tend to expand in maternal transmissions. Repeat contraction events occur 4.2 to 6.4% of the time (Musova et al., 2009). Genetic Heterogeneity of Myotonic Dystrophy See also myotonic dystrophy-2 (DM2; 602668), which is caused by mutation in the ZNF9 gene (116955) on chromosome 3q21. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
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<div class="portlet mgSection" id="ID_117">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Myotonic dystrophy is part of a group of inherited disorders called muscular dystrophies. It is the most common form of muscular dystrophy that begins in adulthood.<br /><br />Myotonic dystrophy is characterized by progressive muscle wasting and weakness. People with this disorder often have prolonged muscle contractions (myotonia) and are not able to relax certain muscles after use. For example, a person may have difficulty releasing their grip on a doorknob or handle. Also, affected people may have slurred speech or temporary locking of their jaw.<br /><br />Other signs and symptoms of myotonic dystrophy include clouding of the lens of the eye (cataracts) and abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects). Some affected individuals develop a condition called diabetes mellitus, in which blood sugar (glucose) levels can become dangerously high. The features of myotonic dystrophy often develop during a person's twenties or thirties, although they can occur at any age. The severity of the condition varies widely among affected people, even among members of the same family.<br /><br />There are two major types of myotonic dystrophy: type 1 and type 2. Their signs and symptoms overlap, although type 2 tends to be milder than type 1. The muscle weakness associated with type 1 particularly affects muscles farthest from the center of the body (distal muscles), such as those of the lower legs, hands, neck, and face. Muscle weakness in type 2 primarily involves muscles close to the center of the body (proximal muscles), such as the those of the neck, shoulders, elbows, and hips. The two types of myotonic dystrophy are caused by mutations in different genes.<br /><br />There are two variations of myotonic dystrophy type 1: the mild and congenital types. Mild myotonic dystrophy is apparent in mid to late adulthood. Affected individuals typically have mild myotonia and cataracts. Congenital myotonic dystrophy is often apparent at birth. Characteristic features include weak muscle tone (hypotonia), an inward- and upward-turning foot (clubfoot), breathing problems, delayed development, and intellectual disability. Some of these health problems can be life-threatening. <a target="_blank" href="https://medlineplus.gov/genetics/condition/myotonic-dystrophy">https://medlineplus.gov/genetics/condition/myotonic-dystrophy</a></div></div>
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</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><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0027126[DISCUI]&test_type=Clinical" ref="ncbi_uid=10239">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=10239" ref="ncbi_uid=10239">V</a></span></span><span class="TLline">Myotonic dystrophy</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/14336" ref="tree=MeSH" title="MedGen record for Disorder of nervous system">Disorder of nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/101195" ref="tree=MeSH" title="MedGen record for Degenerative Disease of Nervous System, Unspecified">Degenerative Disease of Nervous System, Unspecified</a></span><ul><li><span class="TLline"><a href="/medgen/155945" ref="tree=MeSH" title="MedGen record for Heredodegenerative Disorders, Nervous System">Heredodegenerative Disorders, Nervous System</a></span><ul><li><span class="matched_ds">Myotonic dystrophy</span><ul><li><span class="TLline"><a href="/medgen/98051" ref="tree=MeSH" title="MedGen record for Congenital myotonic dystrophy">Congenital myotonic dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/44565" ref="tree=MeSH" title="MedGen record for Myotonic cataract">Myotonic cataract</a></span></li><li><span class="TLline"><a href="/medgen/419137" ref="tree=MeSH" title="MedGen record for Myotonic dystrophy type 2">Myotonic dystrophy type 2</a></span></li><li><span class="TLline"><a href="/medgen/886881" ref="tree=MeSH" title="MedGen record for Steinert myotonic dystrophy syndrome">Steinert myotonic dystrophy syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1843180" ref="tree=MeSH" title="MedGen record for Adult-onset Steinert myotonic dystrophy">Adult-onset Steinert myotonic dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/1842487" ref="tree=MeSH" title="MedGen record for Childhood-onset Steinert myotonic dystrophy">Childhood-onset Steinert myotonic dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/1842512" ref="tree=MeSH" title="MedGen record for Congenital-onset Steinert myotonic dystrophy">Congenital-onset Steinert myotonic dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/1843227" ref="tree=MeSH" title="MedGen record for Juvenile-onset Steinert myotonic dystrophy">Juvenile-onset Steinert myotonic dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/1842603" ref="tree=MeSH" title="MedGen record for Late-onset Steinert myotonic dystrophy">Late-onset Steinert myotonic dystrophy</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=18540&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Myotonic dystrophy</span> in Orphanet.</div></div></div>
|
||
</div>
|
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|
||
<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/30586772">2018 ACC/AHA/HRS Guideline on the Evaluation and Management of Patients With Bradycardia and Cardiac Conduction Delay: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines and the Heart Rhythm Society.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kusumoto FM,
|
||
Schoenfeld MH,
|
||
Barrett C,
|
||
Edgerton JR,
|
||
Ellenbogen KA,
|
||
Gold MR,
|
||
Goldschlager NF,
|
||
Hamilton RM,
|
||
Joglar JA,
|
||
Kim RJ,
|
||
Lee R,
|
||
Marine JE,
|
||
McLeod CJ,
|
||
Oken KR,
|
||
Patton KK,
|
||
Pellegrini CN,
|
||
Selzman KA,
|
||
Thompson A,
|
||
Varosy PD</span><br />
|
||
<span class="medgenPMjournal">Circulation</span>
|
||
2019 Aug 20;140(8):e382-e482.
|
||
Epub 2018 Nov 6
|
||
doi: 10.1161/CIR.0000000000000628.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30586772" target="_blank">30586772</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30412709">2018 ACC/AHA/HRS Guideline on the Evaluation and Management of Patients With Bradycardia and Cardiac Conduction Delay: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines and the Heart Rhythm Society.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kusumoto FM,
|
||
Schoenfeld MH,
|
||
Barrett C,
|
||
Edgerton JR,
|
||
Ellenbogen KA,
|
||
Gold MR,
|
||
Goldschlager NF,
|
||
Hamilton RM,
|
||
Joglar JA,
|
||
Kim RJ,
|
||
Lee R,
|
||
Marine JE,
|
||
McLeod CJ,
|
||
Oken KR,
|
||
Patton KK,
|
||
Pellegrini CN,
|
||
Selzman KA,
|
||
Thompson A,
|
||
Varosy PD</span><br />
|
||
<span class="medgenPMjournal">J Am Coll Cardiol</span>
|
||
2019 Aug 20;74(7):e51-e156.
|
||
Epub 2018 Nov 6
|
||
doi: 10.1016/j.jacc.2018.10.044.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30412709" target="_blank">30412709</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29196274">Neuromuscular diseases: Diagnosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mary P,
|
||
Servais L,
|
||
Vialle R</span><br />
|
||
<span class="medgenPMjournal">Orthop Traumatol Surg Res</span>
|
||
2018 Feb;104(1S):S89-S95.
|
||
Epub 2017 Nov 28
|
||
doi: 10.1016/j.otsr.2017.04.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29196274" target="_blank">29196274</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22myotonic%20dystrophy%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 (127)</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/38651711">Myotonic dystrophy type 1 - a multiorgan disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ørstavik K,
|
||
Solbakken G,
|
||
Rasmussen M,
|
||
Sanaker PS,
|
||
Fossmo HL,
|
||
Bryne E,
|
||
Knutsen-Øy T,
|
||
Elgsås T,
|
||
Heiberg A</span><br />
|
||
<span class="medgenPMjournal">Tidsskr Nor Laegeforen</span>
|
||
2024 Apr 23;144(5)
|
||
Epub 2024 Apr 16
|
||
doi: 10.4045/tidsskr.23.0687.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38651711" target="_blank">38651711</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35483324">Global Prevalence of Myotonic Dystrophy: An Updated Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liao Q,
|
||
Zhang Y,
|
||
He J,
|
||
Huang K</span><br />
|
||
<span class="medgenPMjournal">Neuroepidemiology</span>
|
||
2022;56(3):163-173.
|
||
Epub 2022 Apr 28
|
||
doi: 10.1159/000524734.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35483324" target="_blank">35483324</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31003788">Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gutiérrez Gutiérrez G,
|
||
Díaz-Manera J,
|
||
Almendrote M,
|
||
Azriel S,
|
||
Eulalio Bárcena J,
|
||
Cabezudo García P,
|
||
Camacho Salas A,
|
||
Casanova Rodríguez C,
|
||
Cobo AM,
|
||
Díaz Guardiola P,
|
||
Fernández-Torrón R,
|
||
Gallano Petit MP,
|
||
García Pavía P,
|
||
Gómez Gallego M,
|
||
Gutiérrez Martínez AJ,
|
||
Jericó I,
|
||
Kapetanovic García S,
|
||
López de Munaín Arregui A,
|
||
Martorell L,
|
||
Morís de la Tassa G,
|
||
Moreno Zabaleta R,
|
||
Muñoz-Blanco JL,
|
||
Olivar Roldán J,
|
||
Pascual Pascual SI,
|
||
Peinado Peinado R,
|
||
Pérez H,
|
||
Poza Aldea JJ,
|
||
Rabasa M,
|
||
Ramos A,
|
||
Rosado Bartolomé A,
|
||
Rubio Pérez MÁ,
|
||
Urtizberea JA,
|
||
Zapata-Wainberg G,
|
||
Gutiérrez-Rivas E</span><br />
|
||
<span class="medgenPMjournal">Neurologia (Engl Ed)</span>
|
||
2020 Apr;35(3):185-206.
|
||
Epub 2019 Apr 16
|
||
doi: 10.1016/j.nrl.2019.01.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31003788" target="_blank">31003788</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31357652">CRISPR/Cas Applications in Myotonic Dystrophy: Expanding Opportunities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raaijmakers RHL,
|
||
Ripken L,
|
||
Ausems CRM,
|
||
Wansink DG</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2019 Jul 27;20(15)
|
||
doi: 10.3390/ijms20153689.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31357652" target="_blank">31357652</a><a href="/pmc/articles/PMC6696057" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23177040">Electrodiagnosis of myotonic disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hehir MK,
|
||
Logigian EL</span><br />
|
||
<span class="medgenPMjournal">Phys Med Rehabil Clin N Am</span>
|
||
2013 Feb;24(1):209-20.
|
||
Epub 2012 Oct 16
|
||
doi: 10.1016/j.pmr.2012.08.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23177040" target="_blank">23177040</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myotonic%20dystrophy%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 (1298)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38466298">Diagnosis and Management of Myotonic Dystrophy Type 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hartman J,
|
||
Patki T,
|
||
Johnson NE</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2024 Apr 9;331(14):1227-1228.
|
||
doi: 10.1001/jama.2024.2511.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38466298" target="_blank">38466298</a><a href="/pmc/articles/PMC11618391" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36537977">Myotonic Dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hamel JI</span><br />
|
||
<span class="medgenPMjournal">Continuum (Minneap Minn)</span>
|
||
2022 Dec 1;28(6):1715-1734.
|
||
doi: 10.1212/CON.0000000000001184.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36537977" target="_blank">36537977</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34184806">Hypoglycaemia and myotonic dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thomas MT,
|
||
Shah S,
|
||
Popat H,
|
||
Hanna B,
|
||
Jani P</span><br />
|
||
<span class="medgenPMjournal">J Paediatr Child Health</span>
|
||
2022 Apr;58(4):713-714.
|
||
Epub 2021 Jun 29
|
||
doi: 10.1111/jpc.15633.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34184806" target="_blank">34184806</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33458578">Myotonic dystrophy type 2: the 2020 update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meola G</span><br />
|
||
<span class="medgenPMjournal">Acta Myol</span>
|
||
2020 Dec;39(4):222-234.
|
||
Epub 2020 Dec 1
|
||
doi: 10.36185/2532-1900-026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33458578" target="_blank">33458578</a><a href="/pmc/articles/PMC7783423" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25037086">Myotonic dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thornton CA</span><br />
|
||
<span class="medgenPMjournal">Neurol Clin</span>
|
||
2014 Aug;32(3):705-19, viii.
|
||
Epub 2014 Jun 6
|
||
doi: 10.1016/j.ncl.2014.04.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25037086" target="_blank">25037086</a><a href="/pmc/articles/PMC4105852" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myotonic%20dystrophy%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 (1694)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39174252">Inherited myotonias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Suetterlin K,
|
||
Mӓnnikkӧ R,
|
||
Jayaseelan DL</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2024;203:25-38.
|
||
doi: 10.1016/B978-0-323-90820-7.00008-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39174252" target="_blank">39174252</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36634841">The myotonic dystrophy type 1 drug development pipeline: 2022 edition.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pascual-Gilabert M,
|
||
Artero R,
|
||
López-Castel A</span><br />
|
||
<span class="medgenPMjournal">Drug Discov Today</span>
|
||
2023 Mar;28(3):103489.
|
||
Epub 2023 Jan 9
|
||
doi: 10.1016/j.drudis.2023.103489.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36634841" target="_blank">36634841</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35483324">Global Prevalence of Myotonic Dystrophy: An Updated Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liao Q,
|
||
Zhang Y,
|
||
He J,
|
||
Huang K</span><br />
|
||
<span class="medgenPMjournal">Neuroepidemiology</span>
|
||
2022;56(3):163-173.
|
||
Epub 2022 Apr 28
|
||
doi: 10.1159/000524734.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35483324" target="_blank">35483324</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31808555">Strength training and aerobic exercise training for muscle disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Voet NB,
|
||
van der Kooi EL,
|
||
van Engelen BG,
|
||
Geurts AC</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2019 Dec 6;12(12):CD003907.
|
||
doi: 10.1002/14651858.CD003907.pub5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31808555" target="_blank">31808555</a><a href="/pmc/articles/PMC6953420" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28376341">Myotonic dystrophy: approach to therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thornton CA,
|
||
Wang E,
|
||
Carrell EM</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Genet Dev</span>
|
||
2017 Jun;44:135-140.
|
||
Epub 2017 Apr 1
|
||
doi: 10.1016/j.gde.2017.03.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28376341" target="_blank">28376341</a><a href="/pmc/articles/PMC5447481" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myotonic%20dystrophy%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 (520)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39174252">Inherited myotonias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Suetterlin K,
|
||
Mӓnnikkӧ R,
|
||
Jayaseelan DL</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2024;203:25-38.
|
||
doi: 10.1016/B978-0-323-90820-7.00008-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39174252" target="_blank">39174252</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36804094">Antisense oligonucleotide targeting DMPK in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, phase 1/2a trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thornton CA,
|
||
Moxley RT 3rd,
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/31003788">Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gutiérrez Gutiérrez G,
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<span class="medgenPMjournal">Neurologia (Engl Ed)</span>
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2020 Apr;35(3):185-206.
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Epub 2019 Apr 16
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doi: 10.1016/j.nrl.2019.01.001.
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<span class="bold">PMID: </span><a href="/pubmed/31003788" target="_blank">31003788</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31787162">Arthrogryposis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Society for Maternal-Fetal Medicine,
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<span class="bold">PMID: </span><a href="/pubmed/31787162" target="_blank">31787162</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/27270116">Myotonic dystrophy type 1.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Nguyen CE,
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2016 Oct 4;188(14):1033.
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|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myotonic%20dystrophy%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 (632)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/35483324">Global Prevalence of Myotonic Dystrophy: An Updated Systematic Review and Meta-Analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Liao Q,
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Zhang Y,
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He J,
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Huang K</span><br />
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<span class="medgenPMjournal">Neuroepidemiology</span>
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2022;56(3):163-173.
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Epub 2022 Apr 28
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doi: 10.1159/000524734.
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<span class="bold">PMID: </span><a href="/pubmed/35483324" target="_blank">35483324</a></div>
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2016 Mar;16(2):497-9.
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Epub 2016 Feb 11
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<span class="bold">PMID: </span><a href="/pubmed/27346023" target="_blank">27346023</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/25399769">Lower limb muscle impairment in myotonic dystrophy type 1: the need for better guidelines.</a></div>
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Hébert LJ,
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Desrosiers J,
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2015 Apr;51(4):473-8.
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Epub 2015 Feb 25
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<span class="bold">PMID: </span><a href="/pubmed/25399769" target="_blank">25399769</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/707566">Myotonia dystrophica: obstetric complications.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Webb D,
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Muir I,
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<span class="bold">PMID: </span><a href="/pubmed/707566" target="_blank">707566</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/56616">Letter: Prenatal prediction of myotonic dystrophy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Insley J,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myotonic%20dystrophy%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 (1215)</a></div></div>
|
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|
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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">
|
||
<div class="nl"><a target="_blank" href="/pubmed/35483324">Global Prevalence of Myotonic Dystrophy: An Updated Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liao Q,
|
||
Zhang Y,
|
||
He J,
|
||
Huang K</span><br />
|
||
<span class="medgenPMjournal">Neuroepidemiology</span>
|
||
2022;56(3):163-173.
|
||
Epub 2022 Apr 28
|
||
doi: 10.1159/000524734.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35483324" target="_blank">35483324</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34743790">Treatment of central disorders of hypersomnolence: an American Academy of Sleep Medicine systematic review, meta-analysis, and GRADE assessment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maski K,
|
||
Trotti LM,
|
||
Kotagal S,
|
||
Robert Auger R,
|
||
Swick TJ,
|
||
Rowley JA,
|
||
Hashmi SD,
|
||
Watson NF</span><br />
|
||
<span class="medgenPMjournal">J Clin Sleep Med</span>
|
||
2021 Sep 1;17(9):1895-1945.
|
||
doi: 10.5664/jcsm.9326.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34743790" target="_blank">34743790</a><a href="/pmc/articles/PMC8636345" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34743789">Treatment of central disorders of hypersomnolence: an American Academy of Sleep Medicine clinical practice guideline.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maski K,
|
||
Trotti LM,
|
||
Kotagal S,
|
||
Robert Auger R,
|
||
Rowley JA,
|
||
Hashmi SD,
|
||
Watson NF</span><br />
|
||
<span class="medgenPMjournal">J Clin Sleep Med</span>
|
||
2021 Sep 1;17(9):1881-1893.
|
||
doi: 10.5664/jcsm.9328.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34743789" target="_blank">34743789</a><a href="/pmc/articles/PMC8636351" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31808555">Strength training and aerobic exercise training for muscle disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Voet NB,
|
||
van der Kooi EL,
|
||
van Engelen BG,
|
||
Geurts AC</span><br />
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||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2019 Dec 6;12(12):CD003907.
|
||
doi: 10.1002/14651858.CD003907.pub5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31808555" target="_blank">31808555</a><a href="/pmc/articles/PMC6953420" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31356849">microRNA dysregulation in neurodegenerative diseases: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Juźwik CA,
|
||
S Drake S,
|
||
Zhang Y,
|
||
Paradis-Isler N,
|
||
Sylvester A,
|
||
Amar-Zifkin A,
|
||
Douglas C,
|
||
Morquette B,
|
||
Moore CS,
|
||
Fournier AE</span><br />
|
||
<span class="medgenPMjournal">Prog Neurobiol</span>
|
||
2019 Nov;182:101664.
|
||
Epub 2019 Jul 26
|
||
doi: 10.1016/j.pneurobio.2019.101664.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31356849" target="_blank">31356849</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myotonic%20dystrophy%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 (53)</a></div></div>
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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=C0027126%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0027126%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0027126%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0027126%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C0027126%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (4)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0027126%5bDISCUI%5d" target="_blank">See all (9)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Myotonic+dystrophy/5076" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/myotonic_dystrophy_1" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Myotonic%20dystrophy" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/myotonic-dystrophy" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/10419/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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