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<meta name="keywords" content="C4014814, autosomal recessive centronuclear myopathy caused by mutation in speg, centronuclear myopathy 5, cnm5, disease or syndrome, myopathy, centronuclear, 5, myopathy, centronuclear, type 5, speg, speg autosomal recessive centronuclear 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-5 (CNM5) is an autosomal recessive congenital myopathy characterized by severe neonatal hypotonia with respiratory insufficiency and difficulty feeding. Some patients die in infancy, and some develop dilated cardiomyopathy. Children show severely delayed motor development (summary by Agrawal et al., 2014). For a discussion of genetic heterogeneity of centronuclear myopathy, see CNM1 (160150)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=863251
|
||
ConceptID=C4014814
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Myopathy, centronuclear, 5<span class="h1sub">(CNM5)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863251</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:">C4014814</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>CNM5</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="SPEG - ID: 10290 - NCBI Gene" href="/gene/10290" class="medgenPMinfo">SPEG</a> (2q35)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0014418" target="_blank">MONDO:0014418</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/615959" target="_blank">615959</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-5 (CNM5) is an autosomal recessive congenital myopathy characterized by severe neonatal hypotonia with respiratory insufficiency and difficulty feeding. Some patients die in infancy, and some develop dilated cardiomyopathy. Children show severely delayed motor development (summary by Agrawal et al., 2014). For a discussion of genetic heterogeneity of centronuclear myopathy, see CNM1 (160150). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
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||
|
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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 />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.<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 />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 />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. <a target="_blank" href="https://medlineplus.gov/genetics/condition/centronuclear-myopathy">https://medlineplus.gov/genetics/condition/centronuclear-myopathy</a></div></div>
|
||
</div>
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<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_2880"><div><strong>Primary dilated cardiomyopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2880</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.">C0007193</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial dilated cardiomyopathy is a genetic form of heart disease. It occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure.\n\nIt usually takes many years for symptoms of familial dilated cardiomyopathy to cause health problems. They typically begin in mid-adulthood, but can occur at any time from infancy to late adulthood. Signs and symptoms of familial dilated cardiomyopathy can include an irregular heartbeat (arrhythmia), shortness of breath (dyspnea), extreme tiredness (fatigue), fainting episodes (syncope), and swelling of the legs and feet. In some cases, the first sign of the disorder is sudden cardiac death. The severity of the condition varies among affected individuals, even in members of the same family.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2880">Feature record</a> | <a href="/medgen?term=%22Primary%20dilated%20cardiomyopathy%22%5BClinical%20Features%5D%20OR%202880%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7670"><div><strong>Mitral regurgitation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7670</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.">C0026266</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7670">Feature record</a> | <a href="/medgen?term=%22Mitral%20regurgitation%22%5BClinical%20Features%5D%20OR%207670%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_115943"><div><strong>Areflexia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>115943</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.">C0234146</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Absence of neurologic reflexes such as the knee-jerk reaction.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/115943">Feature record</a> | <a href="/medgen?term=%22Areflexia%22%5BClinical%20Features%5D%20OR%20115943%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_381392"><div><strong>Motor delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381392</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.">C1854301</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of Developmental delay characterized by a delay in acquiring motor skills.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/381392">Feature record</a> | <a href="/medgen?term=%22Motor%20delay%22%5BClinical%20Features%5D%20OR%20381392%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_44428"><div><strong>Micrognathia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44428</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.">C0025990</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental hypoplasia of the mandible.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/44428">Feature record</a> | <a href="/medgen?term=%22Micrognathia%22%5BClinical%20Features%5D%20OR%2044428%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_19766"><div><strong>Retrognathia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19766</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.">C0035353</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality in which the mandible is mislocalised posteriorly.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/19766">Feature record</a> | <a href="/medgen?term=%22Retrognathia%22%5BClinical%20Features%5D%20OR%2019766%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57735"><div><strong>Muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57735</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.">C0151786</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced strength of muscles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57735">Feature record</a> | <a href="/medgen?term=%22Muscle%20weakness%22%5BClinical%20Features%5D%20OR%2057735%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_113169"><div><strong>Proximal muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>113169</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.">C0221629</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A lack of strength of the proximal muscles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/113169">Feature record</a> | <a href="/medgen?term=%22Proximal%20muscle%20weakness%22%5BClinical%20Features%5D%20OR%20113169%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_140815"><div><strong>Hip contracture</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140815</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.">C0409354</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Acquired Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the hip joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Hip%20contracture%22%5BClinical%20Features%5D%20OR%20140815%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98103"><div><strong>Weakness of facial musculature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98103</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.">C0427055</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98103">Feature record</a> | <a href="/medgen?term=%22Weakness%20of%20facial%20musculature%22%5BClinical%20Features%5D%20OR%2098103%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_330782"><div><strong>Centrally nucleated skeletal muscle fibers</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>330782</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.">C1842170</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/330782">Feature record</a> | <a href="/medgen?term=%22Centrally%20nucleated%20skeletal%20muscle%20fibers%22%5BClinical%20Features%5D%20OR%20330782%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_334472"><div><strong>Axial muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334472</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.">C1843697</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/334472">Feature record</a> | <a href="/medgen?term=%22Axial%20muscle%20weakness%22%5BClinical%20Features%5D%20OR%20334472%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_342959"><div><strong>Axial hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342959</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.">C1853743</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342959">Feature record</a> | <a href="/medgen?term=%22Axial%20hypotonia%22%5BClinical%20Features%5D%20OR%20342959%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_346841"><div><strong>Generalized hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346841</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.">C1858120</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Generalized muscular hypotonia (abnormally low muscle tone).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/346841">Feature record</a> | <a href="/medgen?term=%22Generalized%20hypotonia%22%5BClinical%20Features%5D%20OR%20346841%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11197"><div><strong>Respiratory insufficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11197</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.">C0035229</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Impairment of gas exchange within the lungs secondary to a disease process, neoplasm, or trauma, possibly resulting in hypoxia, hypercarbia, or both, but not requiring intubation or mechanical ventilation. Patients are normally managed with pharmaceutical therapy, supplemental oxygen, or both.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11197">Feature record</a> | <a href="/medgen?term=%22Respiratory%20insufficiency%22%5BClinical%20Features%5D%20OR%2011197%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_868058"><div><strong>Abnormal circulating creatine kinase concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868058</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.">C4022449</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any deviation from the normal circulating creatine kinase concentration.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/868058">Feature record</a> | <a href="/medgen?term=%22Abnormal%20circulating%20creatine%20kinase%20concentration%22%5BClinical%20Features%5D%20OR%20868058%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_44435"><div><strong>Narrow mouth</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44435</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.">C0026034</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/44435">Feature record</a> | <a href="/medgen?term=%22Narrow%20mouth%22%5BClinical%20Features%5D%20OR%2044435%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66814"><div><strong>High palate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66814</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.">C0240635</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66814">Feature record</a> | <a href="/medgen?term=%22High%20palate%22%5BClinical%20Features%5D%20OR%2066814%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1646931"><div><strong>Bifid uvula</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1646931</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.">C4551488</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Uvula separated into two parts most easily seen at the tip.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1646931">Feature record</a> | <a href="/medgen?term=%22Bifid%20uvula%22%5BClinical%20Features%5D%20OR%201646931%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_45205"><div><strong>Ophthalmoplegia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45205</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.">C0029089</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Paralysis of one or more extraocular muscles that are responsible for eye movements.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/45205">Feature record</a> | <a href="/medgen?term=%22Ophthalmoplegia%22%5BClinical%20Features%5D%20OR%2045205%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1646931" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bifid uvula</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66814" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">High palate</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_44435" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Narrow mouth</a></span></li></ul></li><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_868058" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal circulating creatine kinase concentration</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7670" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitral regurgitation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2880" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary dilated cardiomyopathy</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_45205" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ophthalmoplegia</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_342959" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Axial hypotonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_334472" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Axial muscle weakness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_330782" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Centrally nucleated skeletal muscle fibers</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_346841" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized hypotonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140815" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hip contracture</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_44428" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Micrognathia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57735" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscle weakness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_113169" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proximal muscle weakness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_19766" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retrognathia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98103" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Weakness of facial musculature</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_115943" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Areflexia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_381392" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Motor delay</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11197" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Respiratory insufficiency</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38968056">Phenotype-Genotype Correlation of a Cohort of Patients with Congenital Myopathy: A Single Centre Experience from India.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Harikrishna GV,
|
||
Padmanabha H,
|
||
Polavarapu K,
|
||
Anjanappa RM,
|
||
Preethish-Kumar V,
|
||
Nandeesh BN,
|
||
Vengalil S,
|
||
Nashi S,
|
||
Baskar D,
|
||
Thomas A,
|
||
Bardhan M,
|
||
Arunachal G,
|
||
Menon D,
|
||
Sanka SB,
|
||
Manjunath N,
|
||
Nalini A</span><br />
|
||
<span class="medgenPMjournal">J Neuromuscul Dis</span>
|
||
2024;11(5):935-957.
|
||
doi: 10.3233/JND-230021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38968056" target="_blank">38968056</a><a href="/pmc/articles/PMC11380309" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31167932">Sporadic late-onset nemaline myopathy: Clinical spectrum, survival, and treatment outcomes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Naddaf E,
|
||
Milone M,
|
||
Kansagra A,
|
||
Buadi F,
|
||
Kourelis T</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2019 Jul 16;93(3):e298-e305.
|
||
Epub 2019 Jun 5
|
||
doi: 10.1212/WNL.0000000000007777.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31167932" target="_blank">31167932</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24725366">Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Malfatti E,
|
||
Lehtokari VL,
|
||
Böhm J,
|
||
De Winter JM,
|
||
Schäffer U,
|
||
Estournet B,
|
||
Quijano-Roy S,
|
||
Monges S,
|
||
Lubieniecki F,
|
||
Bellance R,
|
||
Viou MT,
|
||
Madelaine A,
|
||
Wu B,
|
||
Taratuto AL,
|
||
Eymard B,
|
||
Pelin K,
|
||
Fardeau M,
|
||
Ottenheijm CA,
|
||
Wallgren-Pettersson C,
|
||
Laporte J,
|
||
Romero NB</span><br />
|
||
<span class="medgenPMjournal">Acta Neuropathol Commun</span>
|
||
2014 Apr 12;2:44.
|
||
doi: 10.1186/2051-5960-2-44.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24725366" target="_blank">24725366</a><a href="/pmc/articles/PMC4234932" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(myopathy%2C%20centronuclear%2C%205)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (5)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/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/31578728">Congenital myopathies: an update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Claeys KG</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
2020 Mar;62(3):297-302.
|
||
Epub 2019 Oct 2
|
||
doi: 10.1111/dmcn.14365.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31578728" target="_blank">31578728</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28678037">Sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Uruha A,
|
||
Benveniste O</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Neurol</span>
|
||
2017 Oct;30(5):457-463.
|
||
doi: 10.1097/WCO.0000000000000477.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28678037" target="_blank">28678037</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/14683632">Congenital myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bruno C,
|
||
Minetti C</span><br />
|
||
<span class="medgenPMjournal">Curr Neurol Neurosci Rep</span>
|
||
2004 Jan;4(1):68-73.
|
||
doi: 10.1007/s11910-004-0015-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14683632" target="_blank">14683632</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myopathy%2C%20centronuclear%2C%205%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 (101)</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/31578728">Congenital myopathies: an update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Claeys KG</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
2020 Mar;62(3):297-302.
|
||
Epub 2019 Oct 2
|
||
doi: 10.1111/dmcn.14365.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31578728" target="_blank">31578728</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/16917943">Mutations in RYR1 in malignant hyperthermia and central core disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Robinson R,
|
||
Carpenter D,
|
||
Shaw MA,
|
||
Halsall J,
|
||
Hopkins P</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2006 Oct;27(10):977-89.
|
||
doi: 10.1002/humu.20356.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16917943" target="_blank">16917943</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14683632">Congenital myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bruno C,
|
||
Minetti C</span><br />
|
||
<span class="medgenPMjournal">Curr Neurol Neurosci Rep</span>
|
||
2004 Jan;4(1):68-73.
|
||
doi: 10.1007/s11910-004-0015-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14683632" target="_blank">14683632</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myopathy%2C%20centronuclear%2C%205%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 (135)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37977713">Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shieh PB,
|
||
Kuntz NL,
|
||
Dowling JJ,
|
||
Müller-Felber W,
|
||
Bönnemann CG,
|
||
Seferian AM,
|
||
Servais L,
|
||
Smith BK,
|
||
Muntoni F,
|
||
Blaschek A,
|
||
Foley AR,
|
||
Saade DN,
|
||
Neuhaus S,
|
||
Alfano LN,
|
||
Beggs AH,
|
||
Buj-Bello A,
|
||
Childers MK,
|
||
Duong T,
|
||
Graham RJ,
|
||
Jain M,
|
||
Coats J,
|
||
MacBean V,
|
||
James ES,
|
||
Lee J,
|
||
Mavilio F,
|
||
Miller W,
|
||
Varfaj F,
|
||
Murtagh M,
|
||
Han C,
|
||
Noursalehi M,
|
||
Lawlor MW,
|
||
Prasad S,
|
||
Rico S</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2023 Dec;22(12):1125-1139.
|
||
doi: 10.1016/S1474-4422(23)00313-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37977713" target="_blank">37977713</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37483025">Indications for Tube Feeding in Adults with Muscular Disorders: A Scoping Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Middelink M,
|
||
Voermans NC,
|
||
van Engelen BGM,
|
||
Janssen MCH,
|
||
Groothuis JT,
|
||
Knuijt S,
|
||
Zweers-van Essen H</span><br />
|
||
<span class="medgenPMjournal">J Neuromuscul Dis</span>
|
||
2023;10(5):777-785.
|
||
doi: 10.3233/JND-230014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37483025" target="_blank">37483025</a><a href="/pmc/articles/PMC10578233" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34267051">Genetic therapy for congenital myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maani N,
|
||
Karolczak S,
|
||
Dowling JJ</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Neurol</span>
|
||
2021 Oct 1;34(5):727-737.
|
||
doi: 10.1097/WCO.0000000000000978.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34267051" target="_blank">34267051</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17456235">Malignant hyperthermia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rosenberg H,
|
||
Davis M,
|
||
James D,
|
||
Pollock N,
|
||
Stowell K</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2007 Apr 24;2:21.
|
||
doi: 10.1186/1750-1172-2-21.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17456235" target="_blank">17456235</a><a href="/pmc/articles/PMC1867813" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7155175">Muscle granulomas following intramuscular injection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mrak RE</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
1982 Oct;5(8):637-9.
|
||
doi: 10.1002/mus.880050808.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7155175" target="_blank">7155175</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myopathy%2C%20centronuclear%2C%205%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 (34)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39102614">Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillary and Distal Myopathies: Experience From the Italian Network.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bortolani S,
|
||
Savarese M,
|
||
Vattemi G,
|
||
Bonanno S,
|
||
Falzone YM,
|
||
Pugliese A,
|
||
Primiano G,
|
||
Sancricca C,
|
||
Lopergolo D,
|
||
Greco G,
|
||
Gemelli C,
|
||
Ravaglia S,
|
||
Bencivenga RP,
|
||
Velardo D,
|
||
Magri F,
|
||
Valentino ML,
|
||
Cheli M,
|
||
Torchia E,
|
||
Lucchini M,
|
||
Petrucci A,
|
||
Ricci G,
|
||
Garibaldi M,
|
||
Astrea G,
|
||
Rubegni A,
|
||
Angelini CI,
|
||
Ariatti A,
|
||
Santorelli FM,
|
||
Ruggieri A,
|
||
Antonini G,
|
||
Siciliano G,
|
||
Filosto M,
|
||
Mirabella M,
|
||
Liguori R,
|
||
Comi GP,
|
||
Ruggiero L,
|
||
Grandis M,
|
||
Massa R,
|
||
Malandrini A,
|
||
Servidei S,
|
||
Mongini TE,
|
||
Rodolico C,
|
||
Toscano A,
|
||
Previtali SC,
|
||
Tonin P,
|
||
Diaz-Manera J,
|
||
Monforte M,
|
||
Ricci E,
|
||
Maggi L,
|
||
Tasca G</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2024 Aug 27;103(4):e209697.
|
||
Epub 2024 Aug 5
|
||
doi: 10.1212/WNL.0000000000209697.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39102614" target="_blank">39102614</a></div>
|
||
|
||
<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/30203143">Myofibrillar myopathy in the genomic context.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fichna JP,
|
||
Maruszak A,
|
||
Żekanowski C</span><br />
|
||
<span class="medgenPMjournal">J Appl Genet</span>
|
||
2018 Nov;59(4):431-439.
|
||
Epub 2018 Sep 10
|
||
doi: 10.1007/s13353-018-0463-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30203143" target="_blank">30203143</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29141652">Congenital myopathies: clinical phenotypes and new diagnostic tools.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cassandrini D,
|
||
Trovato R,
|
||
Rubegni A,
|
||
Lenzi S,
|
||
Fiorillo C,
|
||
Baldacci J,
|
||
Minetti C,
|
||
Astrea G,
|
||
Bruno C,
|
||
Santorelli FM;
|
||
Italian Network on Congenital Myopathies</span><br />
|
||
<span class="medgenPMjournal">Ital J Pediatr</span>
|
||
2017 Nov 15;43(1):101.
|
||
doi: 10.1186/s13052-017-0419-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29141652" target="_blank">29141652</a><a href="/pmc/articles/PMC5688763" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28678037">Sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Uruha A,
|
||
Benveniste O</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Neurol</span>
|
||
2017 Oct;30(5):457-463.
|
||
doi: 10.1097/WCO.0000000000000477.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28678037" target="_blank">28678037</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myopathy%2C%20centronuclear%2C%205%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 (56)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37977713">Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shieh PB,
|
||
Kuntz NL,
|
||
Dowling JJ,
|
||
Müller-Felber W,
|
||
Bönnemann CG,
|
||
Seferian AM,
|
||
Servais L,
|
||
Smith BK,
|
||
Muntoni F,
|
||
Blaschek A,
|
||
Foley AR,
|
||
Saade DN,
|
||
Neuhaus S,
|
||
Alfano LN,
|
||
Beggs AH,
|
||
Buj-Bello A,
|
||
Childers MK,
|
||
Duong T,
|
||
Graham RJ,
|
||
Jain M,
|
||
Coats J,
|
||
MacBean V,
|
||
James ES,
|
||
Lee J,
|
||
Mavilio F,
|
||
Miller W,
|
||
Varfaj F,
|
||
Murtagh M,
|
||
Han C,
|
||
Noursalehi M,
|
||
Lawlor MW,
|
||
Prasad S,
|
||
Rico S</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2023 Dec;22(12):1125-1139.
|
||
doi: 10.1016/S1474-4422(23)00313-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37977713" target="_blank">37977713</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36233295">Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gurgel-Giannetti J,
|
||
Souza LS,
|
||
Yamamoto GL,
|
||
Belisario M,
|
||
Lazar M,
|
||
Campos W,
|
||
Pavanello RCM,
|
||
Zatz M,
|
||
Reed U,
|
||
Zanoteli E,
|
||
Oliveira AB,
|
||
Lehtokari VL,
|
||
Casella EB,
|
||
Machado-Costa MC,
|
||
Wallgren-Pettersson C,
|
||
Laing NG,
|
||
Nigro V,
|
||
Vainzof M</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2022 Oct 9;23(19)
|
||
doi: 10.3390/ijms231911995.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36233295" target="_blank">36233295</a><a href="/pmc/articles/PMC9569467" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30149909">New variant of necklace fibres display peculiar lysosomal structures and mitophagy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rinnenthal JL,
|
||
Dittmayer C,
|
||
Irlbacher K,
|
||
Wacker I,
|
||
Schröder R,
|
||
Goebel HH,
|
||
Butori C,
|
||
Villa L,
|
||
Sacconi S,
|
||
Stenzel W</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2018 Oct;28(10):846-856.
|
||
Epub 2018 Jul 2
|
||
doi: 10.1016/j.nmd.2018.06.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30149909" target="_blank">30149909</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28678037">Sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Uruha A,
|
||
Benveniste O</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Neurol</span>
|
||
2017 Oct;30(5):457-463.
|
||
doi: 10.1097/WCO.0000000000000477.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28678037" target="_blank">28678037</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12161072">Altered ryanodine receptor function in central core disease: leaky or uncoupled Ca(2+) release channels?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dirksen RT,
|
||
Avila G</span><br />
|
||
<span class="medgenPMjournal">Trends Cardiovasc Med</span>
|
||
2002 Jul;12(5):189-97.
|
||
doi: 10.1016/s1050-1738(02)00163-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12161072" target="_blank">12161072</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myopathy%2C%20centronuclear%2C%205%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 (60)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
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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_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet mgSection" id="ID_106">
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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>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4014814%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (11)</a></li>
|
||
<li><a href="/gtr/tests?term=C4014814%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C4014814%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (14)</a></li>
|
||
<li><a href="/gtr/tests?term=C4014814%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (3)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4014814%5bDISCUI%5d" target="_blank">See all (17)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
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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/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=615959" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Myopathy,%20centronuclear,%205" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
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|
||
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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=(myopathy%2C%20centronuclear%2C%205)%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></ul></div>
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|
||
|
||
<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=615950" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=10290[geneid]" target="_blank">View SPEG variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=615959" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/myopathy_centronuclear_5" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Myopathy,%20centronuclear,%205" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/centronuclear-myopathy" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/16035/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
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</div>
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||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Myopathy,%20centronuclear,%205" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Myopathy,%20centronuclear,%205%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
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|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=863251" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=863251" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4014814[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4014814[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=863251" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=863251" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=863251" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=863251" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
||
</div>
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<a href="https://www.nlm.nih.gov/careers/careers.html" class="text-white">Careers</a></p>
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<a class="text-white" href="//www.nlm.nih.gov/">NLM</a>
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<a class="text-white" href="https://www.nih.gov/">NIH</a>
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