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<meta name="keywords" content="C0175709, centronuclear myopathies, centronuclear myopathy, centronuclear myopathy, congenital, cnm, disease or syndrome, myopathies, centronuclear, myopathy, centronuclear, myopathy, myotubular, myotubular myopathy, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Centronuclear myopathy is a condition characterized by muscle weakness (myopathy) and wasting (atrophy) in the skeletal muscles, which are the muscles used for movement. The severity of centronuclear myopathy varies among affected individuals, even among members of the same family.\n\nPeople with centronuclear myopathy begin experiencing muscle weakness at any time from birth to early adulthood. The muscle weakness slowly worsens over time and can lead to delayed development of motor skills, such as crawling or walking; muscle pain during exercise; and difficulty walking. Some affected individuals may need wheelchair assistance as the muscles atrophy and weakness becomes more severe. In rare instances, the muscle weakness improves over time.\n\nSome people with centronuclear myopathy experience mild to severe breathing problems related to the weakness of muscles needed for breathing. People with centronuclear myopathy may have droopy eyelids (ptosis) and weakness in other facial muscles, including the muscles that control eye movement. People with this condition may also have foot abnormalities, a high arch in the roof of the mouth (high-arched palate), and abnormal side-to-side curvature of the spine (scoliosis). Rarely, individuals with centronuclear myopathy have a weakened heart muscle (cardiomyopathy), disturbances in nerve function (neuropathy), or intellectual disability.\n\nA key feature of centronuclear myopathy is the displacement of the nucleus in muscle cells, which can be viewed under a microscope. Normally the nucleus is found at the edges of the rod-shaped muscle cells, but in people with centronuclear myopathy the nucleus is located in the center of these cells. How the change in location of the nucleus affects muscle cell function is unknown." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=104495
|
||
ConceptID=C0175709
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Centronuclear myopathy<span class="h1sub">(CNM)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>104495</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:">C0175709</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>Centronuclear myopathy, congenital; CNM; Myotubular myopathy</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Myotubular myopathy (82077006); Centronuclear myopathy (82077006)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="divPopper rprt" id="moi_375779"><div><strong>X-linked recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375779</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.">C1845977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375779">This record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_375779" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/64419">MTMR14</a>, <a target="_blank" href="/gene/4534">MTM1</a>, <a target="_blank" href="/gene/1785">DNM2</a>, <a target="_blank" href="/gene/274">BIN1</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0018947" target="_blank">MONDO:0018947</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS160150" target="_blank">PS160150</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=595">ORPHA595</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Centronuclear myopathy is a condition characterized by muscle weakness (myopathy) and wasting (atrophy) in the skeletal muscles, which are the muscles used for movement. The severity of centronuclear myopathy varies among affected individuals, even among members of the same family.<br /><br />People with centronuclear myopathy begin experiencing muscle weakness at any time from birth to early adulthood. The muscle weakness slowly worsens over time and can lead to delayed development of motor skills, such as crawling or walking; muscle pain during exercise; and difficulty walking. Some affected individuals may need wheelchair assistance as the muscles atrophy and weakness becomes more severe. In rare instances, the muscle weakness improves over time.<br /><br />Some people with centronuclear myopathy experience mild to severe breathing problems related to the weakness of muscles needed for breathing. People with centronuclear myopathy may have droopy eyelids (ptosis) and weakness in other facial muscles, including the muscles that control eye movement. People with this condition may also have foot abnormalities, a high arch in the roof of the mouth (high-arched palate), and abnormal side-to-side curvature of the spine (scoliosis). Rarely, individuals with centronuclear myopathy have a weakened heart muscle (cardiomyopathy), disturbances in nerve function (neuropathy), or intellectual disability.<br /><br />A key feature of centronuclear myopathy is the displacement of the nucleus in muscle cells, which can be viewed under a microscope. Normally the nucleus is found at the edges of the rod-shaped muscle cells, but in people with centronuclear myopathy the nucleus is located in the center of these cells. How the change in location of the nucleus affects muscle cell function is unknown. [from <a title="MedlinePlus Genetics" href="https://medlineplus.gov/genetics/" class="defSource" target="_blank">MedlinePlus Genetics</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>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0175709[DISCUI]&test_type=Clinical" ref="ncbi_uid=104495">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0175709[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=104495">R</a></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=104495" ref="ncbi_uid=104495">V</a></span></span><span class="TLline">Centronuclear myopathy</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4551952[DISCUI]&test_type=Clinical" ref="ncbi_uid=1645741">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C4551952[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=1645741">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1645741" target="_blank" href="/omim/160150">O</a></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=1645741" ref="ncbi_uid=1645741">V</a></span></span><span class="TLline"><a href="/medgen/1645741" ref="tree=GTR&ncbi_uid=1645741&link_uid=1645741" title="View MedGen record for 'Autosomal dominant centronuclear myopathy'">Autosomal dominant centronuclear myopathy</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0410204[DISCUI]&test_type=Clinical" ref="ncbi_uid=98049">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0410204[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=98049">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=98049" target="_blank" href="/omim/255200">O</a></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=98049" ref="ncbi_uid=98049">V</a></span></span><span class="TLline"><a href="/medgen/98049" ref="tree=GTR&ncbi_uid=98049&link_uid=98049" title="View MedGen record for 'Myopathy, centronuclear, 2'">Myopathy, centronuclear, 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0410203[DISCUI]&test_type=Clinical" ref="ncbi_uid=98374">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0410203[DISCUI]&test_type=Research" ref="ncbi_uid=98374">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=98374" target="_blank" href="/omim/300415">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1432/" ref="ncbi_uid=98374">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=98374" ref="ncbi_uid=98374">V</a></span></span><span class="TLline"><a href="/medgen/98374" ref="tree=GTR&ncbi_uid=98374&link_uid=98374" title="View MedGen record for 'Severe X-linked myotubular myopathy'">Severe X-linked myotubular myopathy</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="matched_ds">Centronuclear myopathy</span><ul><li><span class="TLline"><a href="/medgen/1645741" ref="tree=MeSH" title="MedGen record for Autosomal dominant centronuclear myopathy">Autosomal dominant centronuclear myopathy</a></span></li><li><span class="TLline"><a href="/medgen/771131" ref="tree=MeSH" title="MedGen record for Autosomal recessive centronuclear myopathy">Autosomal recessive centronuclear myopathy</a></span></li><li><span class="TLline"><a href="/medgen/1642424" ref="tree=MeSH" title="MedGen record for Congenital myopathy with internal nuclei and atypical cores">Congenital myopathy with internal nuclei and atypical cores</a></span></li><li><span class="TLline"><a href="/medgen/98049" ref="tree=MeSH" title="MedGen record for Myopathy, centronuclear, 2">Myopathy, centronuclear, 2</a></span></li><li><span class="TLline"><a href="/medgen/98374" ref="tree=MeSH" title="MedGen record for Severe X-linked myotubular myopathy">Severe X-linked myotubular myopathy</a></span></li><li><span class="TLline"><a href="/medgen/1842761" ref="tree=MeSH" title="MedGen record for Symptomatic form of X-linked centronuclear myopathy in female carriers">Symptomatic form of X-linked centronuclear myopathy in female carriers</a></span></li><li><span class="TLline"><a href="/medgen/335354" ref="tree=MeSH" title="MedGen record for X-linked myotubular myopathy-abnormal genitalia syndrome">X-linked myotubular myopathy-abnormal genitalia syndrome</a></span></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34768808">Common Pathogenic Mechanisms in Centronuclear and Myotubular Myopathies and Latest Treatment Advances.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gómez-Oca R,
|
||
Cowling BS,
|
||
Laporte J</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2021 Oct 21;22(21)
|
||
doi: 10.3390/ijms222111377.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34768808" target="_blank">34768808</a><a href="/pmc/articles/PMC8583656" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25957634">Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fattori F,
|
||
Maggi L,
|
||
Bruno C,
|
||
Cassandrini D,
|
||
Codemo V,
|
||
Catteruccia M,
|
||
Tasca G,
|
||
Berardinelli A,
|
||
Magri F,
|
||
Pane M,
|
||
Rubegni A,
|
||
Santoro L,
|
||
Ruggiero L,
|
||
Fiorini P,
|
||
Pini A,
|
||
Mongini T,
|
||
Messina S,
|
||
Brisca G,
|
||
Colombo I,
|
||
Astrea G,
|
||
Fiorillo C,
|
||
Bragato C,
|
||
Moroni I,
|
||
Pegoraro E,
|
||
D'Apice MR,
|
||
Alfei E,
|
||
Mora M,
|
||
Morandi L,
|
||
Donati A,
|
||
Evilä A,
|
||
Vihola A,
|
||
Udd B,
|
||
Bernansconi P,
|
||
Mercuri E,
|
||
Santorelli FM,
|
||
Bertini E,
|
||
D'Amico A</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2015 Jul;262(7):1728-40.
|
||
Epub 2015 May 10
|
||
doi: 10.1007/s00415-015-7757-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25957634" target="_blank">25957634</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18402390">Genetic testing for all forms of myotubular/centronuclear myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Foye PM</span><br />
|
||
<span class="medgenPMjournal">Clin Neuropathol</span>
|
||
2008 Mar-Apr;27(2):113; author reply 113-4.
|
||
doi: 10.5414/npp27113.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18402390" target="_blank">18402390</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22centronuclear%20myopathy%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (7)</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/34130600">The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deneubourg C,
|
||
Ramm M,
|
||
Smith LJ,
|
||
Baron O,
|
||
Singh K,
|
||
Byrne SC,
|
||
Duchen MR,
|
||
Gautel M,
|
||
Eskelinen EL,
|
||
Fanto M,
|
||
Jungbluth H</span><br />
|
||
<span class="medgenPMjournal">Autophagy</span>
|
||
2022 Mar;18(3):496-517.
|
||
Epub 2021 Aug 19
|
||
doi: 10.1080/15548627.2021.1943177.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34130600" target="_blank">34130600</a><a href="/pmc/articles/PMC9037555" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30611313">'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Garibaldi M,
|
||
Rendu J,
|
||
Brocard J,
|
||
Lacene E,
|
||
Fauré J,
|
||
Brochier G,
|
||
Beuvin M,
|
||
Labasse C,
|
||
Madelaine A,
|
||
Malfatti E,
|
||
Bevilacqua JA,
|
||
Lubieniecki F,
|
||
Monges S,
|
||
Taratuto AL,
|
||
Laporte J,
|
||
Marty I,
|
||
Antonini G,
|
||
Romero NB</span><br />
|
||
<span class="medgenPMjournal">Acta Neuropathol Commun</span>
|
||
2019 Jan 5;7(1):3.
|
||
doi: 10.1186/s40478-018-0655-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30611313" target="_blank">30611313</a><a href="/pmc/articles/PMC6320585" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23975875">Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ceyhan-Birsoy O,
|
||
Agrawal PB,
|
||
Hidalgo C,
|
||
Schmitz-Abe K,
|
||
DeChene ET,
|
||
Swanson LC,
|
||
Soemedi R,
|
||
Vasli N,
|
||
Iannaccone ST,
|
||
Shieh PB,
|
||
Shur N,
|
||
Dennison JM,
|
||
Lawlor MW,
|
||
Laporte J,
|
||
Markianos K,
|
||
Fairbrother WG,
|
||
Granzier H,
|
||
Beggs AH</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2013 Oct 1;81(14):1205-14.
|
||
Epub 2013 Aug 23
|
||
doi: 10.1212/WNL.0b013e3182a6ca62.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23975875" target="_blank">23975875</a><a href="/pmc/articles/PMC3795603" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23278578">New horizons for congenital myasthenic syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Engel AG,
|
||
Shen XM,
|
||
Selcen D,
|
||
Sine S</span><br />
|
||
<span class="medgenPMjournal">Ann N Y Acad Sci</span>
|
||
2012 Dec;1275(1):54-62.
|
||
doi: 10.1111/j.1749-6632.2012.06803.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23278578" target="_blank">23278578</a><a href="/pmc/articles/PMC3546605" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11303796">Congenital myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bornemann A,
|
||
Goebel HH</span><br />
|
||
<span class="medgenPMjournal">Brain Pathol</span>
|
||
2001 Apr;11(2):206-17.
|
||
doi: 10.1111/j.1750-3639.2001.tb00393.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11303796" target="_blank">11303796</a><a href="/pmc/articles/PMC8098536" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Centronuclear%20myopathy%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (80)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34130600">The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deneubourg C,
|
||
Ramm M,
|
||
Smith LJ,
|
||
Baron O,
|
||
Singh K,
|
||
Byrne SC,
|
||
Duchen MR,
|
||
Gautel M,
|
||
Eskelinen EL,
|
||
Fanto M,
|
||
Jungbluth H</span><br />
|
||
<span class="medgenPMjournal">Autophagy</span>
|
||
2022 Mar;18(3):496-517.
|
||
Epub 2021 Aug 19
|
||
doi: 10.1080/15548627.2021.1943177.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34130600" target="_blank">34130600</a><a href="/pmc/articles/PMC9037555" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30406384">Ryanodine Receptor 1-Related Myopathies: Diagnostic and Therapeutic Approaches.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lawal TA,
|
||
Todd JJ,
|
||
Meilleur KG</span><br />
|
||
<span class="medgenPMjournal">Neurotherapeutics</span>
|
||
2018 Oct;15(4):885-899.
|
||
doi: 10.1007/s13311-018-00677-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30406384" target="_blank">30406384</a><a href="/pmc/articles/PMC6277304" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23975875">Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ceyhan-Birsoy O,
|
||
Agrawal PB,
|
||
Hidalgo C,
|
||
Schmitz-Abe K,
|
||
DeChene ET,
|
||
Swanson LC,
|
||
Soemedi R,
|
||
Vasli N,
|
||
Iannaccone ST,
|
||
Shieh PB,
|
||
Shur N,
|
||
Dennison JM,
|
||
Lawlor MW,
|
||
Laporte J,
|
||
Markianos K,
|
||
Fairbrother WG,
|
||
Granzier H,
|
||
Beggs AH</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2013 Oct 1;81(14):1205-14.
|
||
Epub 2013 Aug 23
|
||
doi: 10.1212/WNL.0b013e3182a6ca62.
|
||
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Centronuclear%20myopathy%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (46)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/36125902">A mitofusin 2/HIF1α axis sets a maturation checkpoint in regenerating skeletal muscle.</a></div>
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Monseur A,
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<div class="nl"><a target="_blank" href="/pubmed/31594457">Autophagy Defects in Skeletal Myopathies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Margeta M</span><br />
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<span class="medgenPMjournal">Annu Rev Pathol</span>
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<span class="bold">PMID: </span><a href="/pubmed/31594457" target="_blank">31594457</a></div>
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|
||
<div class="nl"><a target="_blank" href="/pubmed/30611313">'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Garibaldi M,
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|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24321485">In silico to in vivo splicing analysis using splicing code models.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gazzara MR,
|
||
Vaquero-Garcia J,
|
||
Lynch KW,
|
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Barash Y</span><br />
|
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<span class="medgenPMjournal">Methods</span>
|
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2014 May 1;67(1):3-12.
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<span class="bold">PMID: </span><a href="/pubmed/24321485" target="_blank">24321485</a><a href="/pmc/articles/PMC4321995" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Centronuclear%20myopathy%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (52)</a></div></div>
|
||
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|
||
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|
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|
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|
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|
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<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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|
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<div>
|
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|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0175709%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C0175709%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0175709%5bDISCUI%5d&test_type=Research" target="_blank">Research (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0175709%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0175709%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (7)</a></li>
|
||
<li><a href="/gtr/tests?term=C0175709%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0175709%5bDISCUI%5d" target="_blank">See all (10)</a></total></li>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/phenotypicSeries/PS160150" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=595" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Centronuclear%20myopathy" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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</div>
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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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=(%22centronuclear%20myopathy%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Centronuclear%20myopathy%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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