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<meta name="keywords" content="C5774273, cmyo15, congenital myopathy 15, disease or syndrome, myonri, myopathy, congenital, with neonatal respiratory insufficiency, tnnc2, 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="Congenital myopathy-15 (CMYO15) is a skeletal muscle disorder characterized by symptom onset soon after birth. Affected infants are hypotonic and have severe respiratory insufficiency and feeding problems, sometimes requiring mechanical ventilation or tube feeding. The disorder is unique in that there is gradual improvement of the severe muscle weakness with time, although forced vital capacity remains decreased. Additional features include facial weakness, scoliosis, joint contractures, and persistent ptosis or external ophthalmoplegia (van de Locht et al., 2021). For a discussion of genetic heterogeneity of congenital myopathy, see CMYO1A (117000)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=1824046
|
||
ConceptID=C5774273
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Congenital myopathy 15<span class="h1sub">(MYONRI; CMYO15)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824046</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:">C5774273</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>Myopathy, congenital, with neonatal respiratory insufficiency</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="TNNC2 - ID: 7125 - NCBI Gene" href="/gene/7125" class="medgenPMinfo">TNNC2</a> (20q13.12)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0859335" target="_blank">MONDO:0859335</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/620161" target="_blank">620161</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">Congenital myopathy-15 (CMYO15) is a skeletal muscle disorder characterized by symptom onset soon after birth. Affected infants are hypotonic and have severe respiratory insufficiency and feeding problems, sometimes requiring mechanical ventilation or tube feeding. The disorder is unique in that there is gradual improvement of the severe muscle weakness with time, although forced vital capacity remains decreased. Additional features include facial weakness, scoliosis, joint contractures, and persistent ptosis or external ophthalmoplegia (van de Locht et al., 2021). For a discussion of genetic heterogeneity of congenital myopathy, see CMYO1A (117000). [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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<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_11911"><div><strong>Tricuspid regurgitation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11911</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.">C0040961</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11911">Feature record</a> | <a href="/medgen?term=%22Tricuspid%20regurgitation%22%5BClinical%20Features%5D%20OR%2011911%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66667"><div><strong>Waddling gait</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66667</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.">C0231712</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66667">Feature record</a> | <a href="/medgen?term=%22Waddling%20gait%22%5BClinical%20Features%5D%20OR%2066667%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_10133"><div><strong>Hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10133</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.">C0026827</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10133">Feature record</a> | <a href="/medgen?term=%22Hypotonia%22%5BClinical%20Features%5D%20OR%2010133%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_18222"><div><strong>Osteopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18222</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.">C0029453</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18222">Feature record</a> | <a href="/medgen?term=%22Osteopenia%22%5BClinical%20Features%5D%20OR%2018222%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_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_195780"><div><strong>Camptodactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>195780</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.">C0685409</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/195780">Feature record</a> | <a href="/medgen?term=%22Camptodactyly%22%5BClinical%20Features%5D%20OR%20195780%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_336019"><div><strong>Increased variability in muscle fiber diameter</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336019</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.">C1843700</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336019">Feature record</a> | <a href="/medgen?term=%22Increased%20variability%20in%20muscle%20fiber%20diameter%22%5BClinical%20Features%5D%20OR%20336019%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_336793"><div><strong>Joint hypermobility</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336793</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.">C1844820</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336793">Feature record</a> | <a href="/medgen?term=%22Joint%20hypermobility%22%5BClinical%20Features%5D%20OR%20336793%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_344274"><div><strong>Type 1 muscle fiber predominance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344274</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.">C1854387</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/344274">Feature record</a> | <a href="/medgen?term=%22Type%201%20muscle%20fiber%20predominance%22%5BClinical%20Features%5D%20OR%20344274%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_866735"><div><strong>Fatty replacement of skeletal muscle</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>866735</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.">C4021082</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/866735">Feature record</a> | <a href="/medgen?term=%22Fatty%20replacement%20of%20skeletal%20muscle%22%5BClinical%20Features%5D%20OR%20866735%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_337630"><div><strong>Reduced forced vital capacity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337630</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.">C1846678</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal reduction in the amount of air a person can expel following maximal inspiration.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/337630">Feature record</a> | <a href="/medgen?term=%22Reduced%20forced%20vital%20capacity%22%5BClinical%20Features%5D%20OR%20337630%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_53047"><div><strong>Vocal cord paralysis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>53047</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.">C0042928</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A loss of the ability to move the vocal folds.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/53047">Feature record</a> | <a href="/medgen?term=%22Vocal%20cord%20paralysis%22%5BClinical%20Features%5D%20OR%2053047%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6936"><div><strong>Polyhydramnios</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6936</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.">C0020224</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of excess amniotic fluid in the uterus during pregnancy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6936">Feature record</a> | <a href="/medgen?term=%22Polyhydramnios%22%5BClinical%20Features%5D%20OR%206936%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_68618"><div><strong>Decreased fetal movement</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68618</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.">C0235659</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal reduction in quantity or strength of fetal movements.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68618">Feature record</a> | <a href="/medgen?term=%22Decreased%20fetal%20movement%22%5BClinical%20Features%5D%20OR%2068618%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 prenatal development or birth</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68618" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased fetal movement</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6936" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polyhydramnios</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_11911" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tricuspid regurgitation</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_195780" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Camptodactyly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_866735" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fatty replacement of skeletal muscle</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_336019" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased variability in muscle fiber diameter</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_336793" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Joint hypermobility</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_18222" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteopenia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_344274" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Type 1 muscle fiber predominance</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_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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66667" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Waddling gait</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_337630" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced forced vital capacity</a></span></li></ul></li><li><span class="TLline">Abnormality of the voice</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_53047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vocal cord paralysis</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/37023487">Collagen VI-related myopathies: clinical variability, phenotype-genotype correlation and exploratory transcriptome study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kwong AK,
|
||
Zhang Y,
|
||
Ho RS,
|
||
Gao Y,
|
||
Ling X,
|
||
Tsang MH,
|
||
Luk HM,
|
||
Chung BH,
|
||
Bönnemann CG,
|
||
Javed A,
|
||
Chan SH</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2023 May;33(5):371-381.
|
||
Epub 2023 Mar 12
|
||
doi: 10.1016/j.nmd.2023.03.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37023487" target="_blank">37023487</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33131661">Management of Rare Causes of Pediatric Chronic Respiratory Failure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shi J,
|
||
Al-Shamli N,
|
||
Chiang J,
|
||
Amin R</span><br />
|
||
<span class="medgenPMjournal">Sleep Med Clin</span>
|
||
2020 Dec;15(4):511-526.
|
||
Epub 2020 Sep 30
|
||
doi: 10.1016/j.jsmc.2020.07.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33131661" target="_blank">33131661</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28585220">Inherited Arterial Calcification Syndromes: Etiologies and Treatment Concepts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nitschke Y,
|
||
Rutsch F</span><br />
|
||
<span class="medgenPMjournal">Curr Osteoporos Rep</span>
|
||
2017 Aug;15(4):255-270.
|
||
doi: 10.1007/s11914-017-0370-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28585220" target="_blank">28585220</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(congenital%20myopathy%2015)%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 (29)</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/33112424">Physical activity interventions for people with congenital heart disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Williams CA,
|
||
Wadey C,
|
||
Pieles G,
|
||
Stuart G,
|
||
Taylor RS,
|
||
Long L</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2020 Oct 28;10(10):CD013400.
|
||
doi: 10.1002/14651858.CD013400.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33112424" target="_blank">33112424</a><a href="/pmc/articles/PMC8490972" 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/29691892">Congenital Titinopathy: Comprehensive characterization and pathogenic insights.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oates EC,
|
||
Jones KJ,
|
||
Donkervoort S,
|
||
Charlton A,
|
||
Brammah S,
|
||
Smith JE 3rd,
|
||
Ware JS,
|
||
Yau KS,
|
||
Swanson LC,
|
||
Whiffin N,
|
||
Peduto AJ,
|
||
Bournazos A,
|
||
Waddell LB,
|
||
Farrar MA,
|
||
Sampaio HA,
|
||
Teoh HL,
|
||
Lamont PJ,
|
||
Mowat D,
|
||
Fitzsimons RB,
|
||
Corbett AJ,
|
||
Ryan MM,
|
||
O'Grady GL,
|
||
Sandaradura SA,
|
||
Ghaoui R,
|
||
Joshi H,
|
||
Marshall JL,
|
||
Nolan MA,
|
||
Kaur S,
|
||
Punetha J,
|
||
Töpf A,
|
||
Harris E,
|
||
Bakshi M,
|
||
Genetti CA,
|
||
Marttila M,
|
||
Werlauff U,
|
||
Streichenberger N,
|
||
Pestronk A,
|
||
Mazanti I,
|
||
Pinner JR,
|
||
Vuillerot C,
|
||
Grosmann C,
|
||
Camacho A,
|
||
Mohassel P,
|
||
Leach ME,
|
||
Foley AR,
|
||
Bharucha-Goebel D,
|
||
Collins J,
|
||
Connolly AM,
|
||
Gilbreath HR,
|
||
Iannaccone ST,
|
||
Castro D,
|
||
Cummings BB,
|
||
Webster RI,
|
||
Lazaro L,
|
||
Vissing J,
|
||
Coppens S,
|
||
Deconinck N,
|
||
Luk HM,
|
||
Thomas NH,
|
||
Foulds NC,
|
||
Illingworth MA,
|
||
Ellard S,
|
||
McLean CA,
|
||
Phadke R,
|
||
Ravenscroft G,
|
||
Witting N,
|
||
Hackman P,
|
||
Richard I,
|
||
Cooper ST,
|
||
Kamsteeg EJ,
|
||
Hoffman EP,
|
||
Bushby K,
|
||
Straub V,
|
||
Udd B,
|
||
Ferreiro A,
|
||
North KN,
|
||
Clarke NF,
|
||
Lek M,
|
||
Beggs AH,
|
||
Bönnemann CG,
|
||
MacArthur DG,
|
||
Granzier H,
|
||
Davis MR,
|
||
Laing NG</span><br />
|
||
<span class="medgenPMjournal">Ann Neurol</span>
|
||
2018 Jun;83(6):1105-1124.
|
||
doi: 10.1002/ana.25241.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29691892" target="_blank">29691892</a><a href="/pmc/articles/PMC6105519" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24459070">Amyoplasia revisited.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hall JG,
|
||
Aldinger KA,
|
||
Tanaka KI</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2014 Mar;164A(3):700-30.
|
||
Epub 2014 Jan 23
|
||
doi: 10.1002/ajmg.a.36395.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24459070" target="_blank">24459070</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21990098">Primary and secondary CoQ(10) deficiencies in humans.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Quinzii CM,
|
||
Hirano M</span><br />
|
||
<span class="medgenPMjournal">Biofactors</span>
|
||
2011 Sep-Oct;37(5):361-5.
|
||
Epub 2011 Oct 11
|
||
doi: 10.1002/biof.155.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21990098" target="_blank">21990098</a><a href="/pmc/articles/PMC3258494" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20myopathy%2015%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 (279)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38418480">Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Núñez-Carpintero I,
|
||
Rigau M,
|
||
Bosio M,
|
||
O'Connor E,
|
||
Spendiff S,
|
||
Azuma Y,
|
||
Topf A,
|
||
Thompson R,
|
||
't Hoen PAC,
|
||
Chamova T,
|
||
Tournev I,
|
||
Guergueltcheva V,
|
||
Laurie S,
|
||
Beltran S,
|
||
Capella-Gutiérrez S,
|
||
Cirillo D,
|
||
Lochmüller H,
|
||
Valencia A</span><br />
|
||
<span class="medgenPMjournal">Nat Commun</span>
|
||
2024 Feb 28;15(1):1227.
|
||
doi: 10.1038/s41467-024-45099-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38418480" target="_blank">38418480</a><a href="/pmc/articles/PMC10902324" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33112424">Physical activity interventions for people with congenital heart disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Williams CA,
|
||
Wadey C,
|
||
Pieles G,
|
||
Stuart G,
|
||
Taylor RS,
|
||
Long L</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2020 Oct 28;10(10):CD013400.
|
||
doi: 10.1002/14651858.CD013400.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33112424" target="_blank">33112424</a><a href="/pmc/articles/PMC8490972" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32403337">Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gonzalez-Quereda L,
|
||
Rodriguez MJ,
|
||
Diaz-Manera J,
|
||
Alonso-Perez J,
|
||
Gallardo E,
|
||
Nascimento A,
|
||
Ortez C,
|
||
Natera-de Benito D,
|
||
Olive M,
|
||
Gonzalez-Mera L,
|
||
Munain AL,
|
||
Zulaica M,
|
||
Poza JJ,
|
||
Jerico I,
|
||
Torne L,
|
||
Riera P,
|
||
Milisenda J,
|
||
Sanchez A,
|
||
Garrabou G,
|
||
Llano I,
|
||
Madruga-Garrido M,
|
||
Gallano P</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2020 May 11;11(5)
|
||
doi: 10.3390/genes11050539.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32403337" target="_blank">32403337</a><a href="/pmc/articles/PMC7288461" 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/29691892">Congenital Titinopathy: Comprehensive characterization and pathogenic insights.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oates EC,
|
||
Jones KJ,
|
||
Donkervoort S,
|
||
Charlton A,
|
||
Brammah S,
|
||
Smith JE 3rd,
|
||
Ware JS,
|
||
Yau KS,
|
||
Swanson LC,
|
||
Whiffin N,
|
||
Peduto AJ,
|
||
Bournazos A,
|
||
Waddell LB,
|
||
Farrar MA,
|
||
Sampaio HA,
|
||
Teoh HL,
|
||
Lamont PJ,
|
||
Mowat D,
|
||
Fitzsimons RB,
|
||
Corbett AJ,
|
||
Ryan MM,
|
||
O'Grady GL,
|
||
Sandaradura SA,
|
||
Ghaoui R,
|
||
Joshi H,
|
||
Marshall JL,
|
||
Nolan MA,
|
||
Kaur S,
|
||
Punetha J,
|
||
Töpf A,
|
||
Harris E,
|
||
Bakshi M,
|
||
Genetti CA,
|
||
Marttila M,
|
||
Werlauff U,
|
||
Streichenberger N,
|
||
Pestronk A,
|
||
Mazanti I,
|
||
Pinner JR,
|
||
Vuillerot C,
|
||
Grosmann C,
|
||
Camacho A,
|
||
Mohassel P,
|
||
Leach ME,
|
||
Foley AR,
|
||
Bharucha-Goebel D,
|
||
Collins J,
|
||
Connolly AM,
|
||
Gilbreath HR,
|
||
Iannaccone ST,
|
||
Castro D,
|
||
Cummings BB,
|
||
Webster RI,
|
||
Lazaro L,
|
||
Vissing J,
|
||
Coppens S,
|
||
Deconinck N,
|
||
Luk HM,
|
||
Thomas NH,
|
||
Foulds NC,
|
||
Illingworth MA,
|
||
Ellard S,
|
||
McLean CA,
|
||
Phadke R,
|
||
Ravenscroft G,
|
||
Witting N,
|
||
Hackman P,
|
||
Richard I,
|
||
Cooper ST,
|
||
Kamsteeg EJ,
|
||
Hoffman EP,
|
||
Bushby K,
|
||
Straub V,
|
||
Udd B,
|
||
Ferreiro A,
|
||
North KN,
|
||
Clarke NF,
|
||
Lek M,
|
||
Beggs AH,
|
||
Bönnemann CG,
|
||
MacArthur DG,
|
||
Granzier H,
|
||
Davis MR,
|
||
Laing NG</span><br />
|
||
<span class="medgenPMjournal">Ann Neurol</span>
|
||
2018 Jun;83(6):1105-1124.
|
||
doi: 10.1002/ana.25241.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29691892" target="_blank">29691892</a><a href="/pmc/articles/PMC6105519" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20myopathy%2015%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 (289)</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/36804094">Antisense oligonucleotide targeting DMPK in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, phase 1/2a trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thornton CA,
|
||
Moxley RT 3rd,
|
||
Eichinger K,
|
||
Heatwole C,
|
||
Mignon L,
|
||
Arnold WD,
|
||
Ashizawa T,
|
||
Day JW,
|
||
Dent G,
|
||
Tanner MK,
|
||
Duong T,
|
||
Greene EP,
|
||
Herbelin L,
|
||
Johnson NE,
|
||
King W,
|
||
Kissel JT,
|
||
Leung DG,
|
||
Lott DJ,
|
||
Norris DA,
|
||
Pucillo EM,
|
||
Schell W,
|
||
Statland JM,
|
||
Stinson N,
|
||
Subramony SH,
|
||
Xia S,
|
||
Bishop KM,
|
||
Bennett CF</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2023 Mar;22(3):218-228.
|
||
doi: 10.1016/S1474-4422(23)00001-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36804094" target="_blank">36804094</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33112424">Physical activity interventions for people with congenital heart disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Williams CA,
|
||
Wadey C,
|
||
Pieles G,
|
||
Stuart G,
|
||
Taylor RS,
|
||
Long L</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2020 Oct 28;10(10):CD013400.
|
||
doi: 10.1002/14651858.CD013400.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33112424" target="_blank">33112424</a><a href="/pmc/articles/PMC8490972" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31384377">Ebstein's Anomaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Holst KA,
|
||
Connolly HM,
|
||
Dearani JA</span><br />
|
||
<span class="medgenPMjournal">Methodist Debakey Cardiovasc J</span>
|
||
2019 Apr-Jun;15(2):138-144.
|
||
doi: 10.14797/mdcj-15-2-138.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31384377" target="_blank">31384377</a><a href="/pmc/articles/PMC6668741" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/970533">Neonatal diaphragmatic dysfunction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wexler HA,
|
||
Poole CA</span><br />
|
||
<span class="medgenPMjournal">AJR Am J Roentgenol</span>
|
||
1976 Oct;127(4):617-22.
|
||
doi: 10.2214/ajr.127.4.617.
|
||
<span class="bold">PMID: </span><a href="/pubmed/970533" target="_blank">970533</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20myopathy%2015%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 (80)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38810326">Main features and disease outcome of congenital myotonic dystrophy - experience from a single tertiary center.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ostojić S,
|
||
Kovačević G,
|
||
Meola G,
|
||
Pešović J,
|
||
Savić-Pavićević D,
|
||
Brkušanin M,
|
||
Kravljanac R,
|
||
Perić M,
|
||
Martić J,
|
||
Pejić K,
|
||
Ristić S,
|
||
Perić S</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2024 Jul;40:16-23.
|
||
Epub 2024 May 9
|
||
doi: 10.1016/j.nmd.2024.05.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38810326" target="_blank">38810326</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36804094">Antisense oligonucleotide targeting DMPK in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, phase 1/2a trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thornton CA,
|
||
Moxley RT 3rd,
|
||
Eichinger K,
|
||
Heatwole C,
|
||
Mignon L,
|
||
Arnold WD,
|
||
Ashizawa T,
|
||
Day JW,
|
||
Dent G,
|
||
Tanner MK,
|
||
Duong T,
|
||
Greene EP,
|
||
Herbelin L,
|
||
Johnson NE,
|
||
King W,
|
||
Kissel JT,
|
||
Leung DG,
|
||
Lott DJ,
|
||
Norris DA,
|
||
Pucillo EM,
|
||
Schell W,
|
||
Statland JM,
|
||
Stinson N,
|
||
Subramony SH,
|
||
Xia S,
|
||
Bishop KM,
|
||
Bennett CF</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2023 Mar;22(3):218-228.
|
||
doi: 10.1016/S1474-4422(23)00001-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36804094" target="_blank">36804094</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33112424">Physical activity interventions for people with congenital heart disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Williams CA,
|
||
Wadey C,
|
||
Pieles G,
|
||
Stuart G,
|
||
Taylor RS,
|
||
Long L</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2020 Oct 28;10(10):CD013400.
|
||
doi: 10.1002/14651858.CD013400.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33112424" target="_blank">33112424</a><a href="/pmc/articles/PMC8490972" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29691892">Congenital Titinopathy: Comprehensive characterization and pathogenic insights.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oates EC,
|
||
Jones KJ,
|
||
Donkervoort S,
|
||
Charlton A,
|
||
Brammah S,
|
||
Smith JE 3rd,
|
||
Ware JS,
|
||
Yau KS,
|
||
Swanson LC,
|
||
Whiffin N,
|
||
Peduto AJ,
|
||
Bournazos A,
|
||
Waddell LB,
|
||
Farrar MA,
|
||
Sampaio HA,
|
||
Teoh HL,
|
||
Lamont PJ,
|
||
Mowat D,
|
||
Fitzsimons RB,
|
||
Corbett AJ,
|
||
Ryan MM,
|
||
O'Grady GL,
|
||
Sandaradura SA,
|
||
Ghaoui R,
|
||
Joshi H,
|
||
Marshall JL,
|
||
Nolan MA,
|
||
Kaur S,
|
||
Punetha J,
|
||
Töpf A,
|
||
Harris E,
|
||
Bakshi M,
|
||
Genetti CA,
|
||
Marttila M,
|
||
Werlauff U,
|
||
Streichenberger N,
|
||
Pestronk A,
|
||
Mazanti I,
|
||
Pinner JR,
|
||
Vuillerot C,
|
||
Grosmann C,
|
||
Camacho A,
|
||
Mohassel P,
|
||
Leach ME,
|
||
Foley AR,
|
||
Bharucha-Goebel D,
|
||
Collins J,
|
||
Connolly AM,
|
||
Gilbreath HR,
|
||
Iannaccone ST,
|
||
Castro D,
|
||
Cummings BB,
|
||
Webster RI,
|
||
Lazaro L,
|
||
Vissing J,
|
||
Coppens S,
|
||
Deconinck N,
|
||
Luk HM,
|
||
Thomas NH,
|
||
Foulds NC,
|
||
Illingworth MA,
|
||
Ellard S,
|
||
McLean CA,
|
||
Phadke R,
|
||
Ravenscroft G,
|
||
Witting N,
|
||
Hackman P,
|
||
Richard I,
|
||
Cooper ST,
|
||
Kamsteeg EJ,
|
||
Hoffman EP,
|
||
Bushby K,
|
||
Straub V,
|
||
Udd B,
|
||
Ferreiro A,
|
||
North KN,
|
||
Clarke NF,
|
||
Lek M,
|
||
Beggs AH,
|
||
Bönnemann CG,
|
||
MacArthur DG,
|
||
Granzier H,
|
||
Davis MR,
|
||
Laing NG</span><br />
|
||
<span class="medgenPMjournal">Ann Neurol</span>
|
||
2018 Jun;83(6):1105-1124.
|
||
doi: 10.1002/ana.25241.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29691892" target="_blank">29691892</a><a href="/pmc/articles/PMC6105519" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23383613">Practical application of electron microscopy to neuromuscular diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Goebel HH,
|
||
Stenzel W</span><br />
|
||
<span class="medgenPMjournal">Ultrastruct Pathol</span>
|
||
2013 Feb;37(1):15-8.
|
||
doi: 10.3109/01913123.2012.670045.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23383613" target="_blank">23383613</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20myopathy%2015%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 (153)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38184690">PIEZO1 loss-of-function compound heterozygous mutations in the rare congenital human disorder Prune Belly Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amado NG,
|
||
Nosyreva ED,
|
||
Thompson D,
|
||
Egeland TJ,
|
||
Ogujiofor OW,
|
||
Yang M,
|
||
Fusco AN,
|
||
Passoni N,
|
||
Mathews J,
|
||
Cantarel B,
|
||
Baker LA,
|
||
Syeda R</span><br />
|
||
<span class="medgenPMjournal">Nat Commun</span>
|
||
2024 Jan 6;15(1):339.
|
||
doi: 10.1038/s41467-023-44594-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38184690" target="_blank">38184690</a><a href="/pmc/articles/PMC10771463" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35909075">CRISPR applications for Duchenne muscular dystrophy: From animal models to potential therapies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chey YCJ,
|
||
Arudkumar J,
|
||
Aartsma-Rus A,
|
||
Adikusuma F,
|
||
Thomas PQ</span><br />
|
||
<span class="medgenPMjournal">WIREs Mech Dis</span>
|
||
2023 Jan;15(1):e1580.
|
||
Epub 2022 Jul 31
|
||
doi: 10.1002/wsbm.1580.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35909075" target="_blank">35909075</a><a href="/pmc/articles/PMC10078488" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31384377">Ebstein's Anomaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Holst KA,
|
||
Connolly HM,
|
||
Dearani JA</span><br />
|
||
<span class="medgenPMjournal">Methodist Debakey Cardiovasc J</span>
|
||
2019 Apr-Jun;15(2):138-144.
|
||
doi: 10.14797/mdcj-15-2-138.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31384377" target="_blank">31384377</a><a href="/pmc/articles/PMC6668741" 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/29691892">Congenital Titinopathy: Comprehensive characterization and pathogenic insights.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oates EC,
|
||
Jones KJ,
|
||
Donkervoort S,
|
||
Charlton A,
|
||
Brammah S,
|
||
Smith JE 3rd,
|
||
Ware JS,
|
||
Yau KS,
|
||
Swanson LC,
|
||
Whiffin N,
|
||
Peduto AJ,
|
||
Bournazos A,
|
||
Waddell LB,
|
||
Farrar MA,
|
||
Sampaio HA,
|
||
Teoh HL,
|
||
Lamont PJ,
|
||
Mowat D,
|
||
Fitzsimons RB,
|
||
Corbett AJ,
|
||
Ryan MM,
|
||
O'Grady GL,
|
||
Sandaradura SA,
|
||
Ghaoui R,
|
||
Joshi H,
|
||
Marshall JL,
|
||
Nolan MA,
|
||
Kaur S,
|
||
Punetha J,
|
||
Töpf A,
|
||
Harris E,
|
||
Bakshi M,
|
||
Genetti CA,
|
||
Marttila M,
|
||
Werlauff U,
|
||
Streichenberger N,
|
||
Pestronk A,
|
||
Mazanti I,
|
||
Pinner JR,
|
||
Vuillerot C,
|
||
Grosmann C,
|
||
Camacho A,
|
||
Mohassel P,
|
||
Leach ME,
|
||
Foley AR,
|
||
Bharucha-Goebel D,
|
||
Collins J,
|
||
Connolly AM,
|
||
Gilbreath HR,
|
||
Iannaccone ST,
|
||
Castro D,
|
||
Cummings BB,
|
||
Webster RI,
|
||
Lazaro L,
|
||
Vissing J,
|
||
Coppens S,
|
||
Deconinck N,
|
||
Luk HM,
|
||
Thomas NH,
|
||
Foulds NC,
|
||
Illingworth MA,
|
||
Ellard S,
|
||
McLean CA,
|
||
Phadke R,
|
||
Ravenscroft G,
|
||
Witting N,
|
||
Hackman P,
|
||
Richard I,
|
||
Cooper ST,
|
||
Kamsteeg EJ,
|
||
Hoffman EP,
|
||
Bushby K,
|
||
Straub V,
|
||
Udd B,
|
||
Ferreiro A,
|
||
North KN,
|
||
Clarke NF,
|
||
Lek M,
|
||
Beggs AH,
|
||
Bönnemann CG,
|
||
MacArthur DG,
|
||
Granzier H,
|
||
Davis MR,
|
||
Laing NG</span><br />
|
||
<span class="medgenPMjournal">Ann Neurol</span>
|
||
2018 Jun;83(6):1105-1124.
|
||
doi: 10.1002/ana.25241.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29691892" target="_blank">29691892</a><a href="/pmc/articles/PMC6105519" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20myopathy%2015%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 (202)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/37732431">Congenital cranio-facial abnormalities in paediatric population: a systematic review on temporomandibular disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Minervini G,
|
||
Marrapodi MM,
|
||
Cervino G,
|
||
Franco R,
|
||
Lanza A,
|
||
Cicciù M,
|
||
Di Francesco F</span><br />
|
||
<span class="medgenPMjournal">J Clin Pediatr Dent</span>
|
||
2023 Sep;47(5):12-18.
|
||
Epub 2023 Sep 3
|
||
doi: 10.22514/jocpd.2023.049.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37732431" target="_blank">37732431</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36266132">Talectomy for arthrogrypotic foot deformities: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chergui S,
|
||
Al-Ali H,
|
||
Marwan Y,
|
||
Abu Dalu K,
|
||
Dahan-Oliel N,
|
||
Hamdy RC</span><br />
|
||
<span class="medgenPMjournal">Foot Ankle Surg</span>
|
||
2023 Jan;29(1):15-21.
|
||
Epub 2022 Oct 15
|
||
doi: 10.1016/j.fas.2022.10.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36266132" target="_blank">36266132</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33112424">Physical activity interventions for people with congenital heart disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Williams CA,
|
||
Wadey C,
|
||
Pieles G,
|
||
Stuart G,
|
||
Taylor RS,
|
||
Long L</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2020 Oct 28;10(10):CD013400.
|
||
doi: 10.1002/14651858.CD013400.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33112424" target="_blank">33112424</a><a href="/pmc/articles/PMC8490972" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32646676">Association Between Arthrogryposis and Mortality in Infants With Congenital Zika Syndrome: A Systematic Review and Meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martins-Filho PR,
|
||
Souza Tavares CS,
|
||
Araújo Carvalho AC,
|
||
Reis MCDS,
|
||
Santos HP Jr,
|
||
Santos VS</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2020 Sep;110:20-24.
|
||
Epub 2020 May 25
|
||
doi: 10.1016/j.pediatrneurol.2020.05.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32646676" target="_blank">32646676</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25117413">Interventions for congenital talipes equinovarus (clubfoot).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gray K,
|
||
Pacey V,
|
||
Gibbons P,
|
||
Little D,
|
||
Burns J</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2014 Aug 12;2014(8):CD008602.
|
||
doi: 10.1002/14651858.CD008602.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25117413" target="_blank">25117413</a><a href="/pmc/articles/PMC7173730" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20myopathy%2015%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (7)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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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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|
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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=C5774273%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C5774273%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C5774273%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C5774273%5bDISCUI%5d" target="_blank">See all (1)</a></total></li>
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</ul></div>
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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=620161" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Congenital%20myopathy%2015" target="_blank">ClinicalTrials.gov</a></li></ul></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=(congenital%20myopathy%2015)%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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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cd1e1cf4a390645e53940e">Congenital myopathy 15</a>
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