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<meta name="keywords" content="C5830424, cmyo21, congenital myopathy 21 with early respiratory failure, disease or syndrome, dnajb4, 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-21 with early respiratory failure (CMYO21) is an autosomal recessive muscle disorder associated with diaphragmatic weakness and spinal rigidity. The age at symptom onset is highly variable, ranging from infancy to adulthood; the severity of the respiratory impairment, which can lead to death in the most severe cases, is also variable. Additional features, including developmental delay and hypertrophic cardiomyopathy, have been observed in one patient each (Weihl et al., 2023; Al-Kasbi et al., 2022). For a discussion of genetic heterogeneity of congenital myopathy, see CMYO1A (117000)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=1841060
|
||
ConceptID=C5830424
|
||
-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Congenital myopathy 21 with early respiratory failure<span class="h1sub">(CMYO21)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841060</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:">C5830424</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>CMYO21</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="DNAJB4 - ID: 11080 - NCBI Gene" href="/gene/11080" class="medgenPMinfo">DNAJB4</a> (1p31.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0957224" target="_blank">MONDO:0957224</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/620326" target="_blank">620326</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-21 with early respiratory failure (CMYO21) is an autosomal recessive muscle disorder associated with diaphragmatic weakness and spinal rigidity. The age at symptom onset is highly variable, ranging from infancy to adulthood; the severity of the respiratory impairment, which can lead to death in the most severe cases, is also variable. Additional features, including developmental delay and hypertrophic cardiomyopathy, have been observed in one patient each (Weihl et al., 2023; Al-Kasbi et al., 2022). 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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||
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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_2881"><div><strong>Hypertrophic cardiomyopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2881</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.">C0007194</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2881">Feature record</a> | <a href="/medgen?term=%22Hypertrophic%20cardiomyopathy%22%5BClinical%20Features%5D%20OR%202881%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_4693"><div><strong>Fetal growth restriction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4693</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.">C0015934</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4693">Feature record</a> | <a href="/medgen?term=%22Fetal%20growth%20restriction%22%5BClinical%20Features%5D%20OR%204693%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_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</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.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1643639"><div><strong>Brain atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1643639</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.">C4551584</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Partial or complete wasting (loss) of brain tissue that was once present.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1643639">Feature record</a> | <a href="/medgen?term=%22Brain%20atrophy%22%5BClinical%20Features%5D%20OR%201643639%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1785336"><div><strong>Thin corpus callosum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1785336</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.">C5441562</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1785336">Feature record</a> | <a href="/medgen?term=%22Thin%20corpus%20callosum%22%5BClinical%20Features%5D%20OR%201785336%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6817"><div><strong>Inguinal hernia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6817</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.">C0019294</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Protrusion of the contents of the abdominal cavity through the inguinal canal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6817">Feature record</a> | <a href="/medgen?term=%22Inguinal%20hernia%22%5BClinical%20Features%5D%20OR%206817%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_101067"><div><strong>Diaphragmatic weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>101067</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.">C0521532</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A decrease in the strength of the diaphragm.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/101067">Feature record</a> | <a href="/medgen?term=%22Diaphragmatic%20weakness%22%5BClinical%20Features%5D%20OR%20101067%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_346721"><div><strong>Spinal rigidity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346721</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.">C1858025</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/346721">Feature record</a> | <a href="/medgen?term=%22Spinal%20rigidity%22%5BClinical%20Features%5D%20OR%20346721%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_867362"><div><strong>EMG: myopathic abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867362</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.">C4021726</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867362">Feature record</a> | <a href="/medgen?term=%22EMG%3A%20myopathic%20abnormalities%22%5BClinical%20Features%5D%20OR%20867362%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_3938"><div><strong>Dyspnea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3938</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.">C0013404</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3938">Feature record</a> | <a href="/medgen?term=%22Dyspnea%22%5BClinical%20Features%5D%20OR%203938%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_19362"><div><strong>Lipid pneumonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19362</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.">C0032298</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A specific form of lung inflammation that results from accumulation of lipids in the alveoli. Lipoid pneumonia can be either exogenous or endogenous in cause based on the source of the lipid.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/19362">Feature record</a> | <a href="/medgen?term=%22Lipid%20pneumonia%22%5BClinical%20Features%5D%20OR%2019362%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_257837"><div><strong>Respiratory failure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>257837</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.">C1145670</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/257837">Feature record</a> | <a href="/medgen?term=%22Respiratory%20failure%22%5BClinical%20Features%5D%20OR%20257837%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_375246"><div><strong>Nocturnal hypoventilation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375246</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.">C1843643</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal reduction in alveolar ventilation occurring during sleep. This is characterized by a rise in arterial carbon dioxide.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375246">Feature record</a> | <a href="/medgen?term=%22Nocturnal%20hypoventilation%22%5BClinical%20Features%5D%20OR%20375246%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_69128"><div><strong>Elevated circulating creatine kinase concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>69128</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.">C0241005</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/69128">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20creatine%20kinase%20concentration%22%5BClinical%20Features%5D%20OR%2069128%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 metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_69128" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated 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_2881" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertrophic cardiomyopathy</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_101067" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diaphragmatic weakness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867362" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">EMG: myopathic abnormalities</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6817" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Inguinal hernia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_346721" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spinal rigidity</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_1643639" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brain atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1785336" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thin corpus callosum</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_3938" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dyspnea</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_19362" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lipid pneumonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_375246" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nocturnal hypoventilation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_257837" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Respiratory failure</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fetal growth restriction</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/18707767">Congenital myasthenic syndromes in childhood: diagnostic and management challenges.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kinali M,
|
||
Beeson D,
|
||
Pitt MC,
|
||
Jungbluth H,
|
||
Simonds AK,
|
||
Aloysius A,
|
||
Cockerill H,
|
||
Davis T,
|
||
Palace J,
|
||
Manzur AY,
|
||
Jimenez-Mallebrera C,
|
||
Sewry C,
|
||
Muntoni F,
|
||
Robb SA</span><br />
|
||
<span class="medgenPMjournal">J Neuroimmunol</span>
|
||
2008 Sep 15;201-202:6-12.
|
||
Epub 2008 Aug 15
|
||
doi: 10.1016/j.jneuroim.2008.06.026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18707767" target="_blank">18707767</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(congenital%20myopathy%2021%20with%20early%20respiratory%20failure)%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 (1)</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/35694931">INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dowling JJ,
|
||
Müller-Felber W,
|
||
Smith BK,
|
||
Bönnemann CG,
|
||
Kuntz NL,
|
||
Muntoni F,
|
||
Servais L,
|
||
Alfano LN,
|
||
Beggs AH,
|
||
Bilder DA,
|
||
Blaschek A,
|
||
Duong T,
|
||
Graham RJ,
|
||
Jain M,
|
||
Lawlor MW,
|
||
Lee J,
|
||
Coats J,
|
||
Lilien C,
|
||
Lowes LP,
|
||
MacBean V,
|
||
Neuhaus S,
|
||
Noursalehi M,
|
||
Pitts T,
|
||
Finlay C,
|
||
Christensen S,
|
||
Rafferty G,
|
||
Seferian AM,
|
||
Tsuchiya E,
|
||
James ES,
|
||
Miller W,
|
||
Sepulveda B,
|
||
Vila MC,
|
||
Prasad S,
|
||
Rico S,
|
||
Shieh PB;
|
||
INCEPTUS investigators</span><br />
|
||
<span class="medgenPMjournal">J Neuromuscul Dis</span>
|
||
2022;9(4):503-516.
|
||
doi: 10.3233/JND-210781.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35694931" target="_blank">35694931</a><a href="/pmc/articles/PMC9398079" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34384384">Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bouman K,
|
||
Groothuis JT,
|
||
Doorduin J,
|
||
van Alfen N,
|
||
Udink Ten Cate FEA,
|
||
van den Heuvel FMA,
|
||
Nijveldt R,
|
||
van Tilburg WCM,
|
||
Buckens SCFM,
|
||
Dittrich ATM,
|
||
Draaisma JMT,
|
||
Janssen MCH,
|
||
Kamsteeg EJ,
|
||
van Kleef ESB,
|
||
Koene S,
|
||
Smeitink JAM,
|
||
Küsters B,
|
||
van Tienen FHJ,
|
||
Smeets HJM,
|
||
van Engelen BGM,
|
||
Erasmus CE,
|
||
Voermans NC</span><br />
|
||
<span class="medgenPMjournal">BMC Neurol</span>
|
||
2021 Aug 12;21(1):313.
|
||
doi: 10.1186/s12883-021-02336-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34384384" target="_blank">34384384</a><a href="/pmc/articles/PMC8357962" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31484632">Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Graham RJ,
|
||
Muntoni F,
|
||
Hughes I,
|
||
Yum SW,
|
||
Kuntz NL,
|
||
Yang ML,
|
||
Byrne BJ,
|
||
Prasad S,
|
||
Alvarez R,
|
||
Genetti CA,
|
||
Haselkorn T,
|
||
James ES,
|
||
LaRusso LB,
|
||
Noursalehi M,
|
||
Rico S,
|
||
Beggs AH</span><br />
|
||
<span class="medgenPMjournal">Arch Dis Child</span>
|
||
2020 Apr;105(4):332-338.
|
||
Epub 2019 Sep 4
|
||
doi: 10.1136/archdischild-2019-317910.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31484632" target="_blank">31484632</a><a href="/pmc/articles/PMC7054136" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25868664">Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huemer M,
|
||
Karall D,
|
||
Schossig A,
|
||
Abdenur JE,
|
||
Al Jasmi F,
|
||
Biagosch C,
|
||
Distelmaier F,
|
||
Freisinger P,
|
||
Graham BH,
|
||
Haack TB,
|
||
Hauser N,
|
||
Hertecant J,
|
||
Ebrahimi-Fakhari D,
|
||
Konstantopoulou V,
|
||
Leydiker K,
|
||
Lourenco CM,
|
||
Scholl-Bürgi S,
|
||
Wilichowski E,
|
||
Wolf NI,
|
||
Wortmann SB,
|
||
Taylor RW,
|
||
Mayr JA,
|
||
Bonnen PE,
|
||
Sperl W,
|
||
Prokisch H,
|
||
McFarland R</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2015 Sep;38(5):905-14.
|
||
Epub 2015 Apr 14
|
||
doi: 10.1007/s10545-015-9836-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25868664" target="_blank">25868664</a><a href="/pmc/articles/PMC4841446" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18707767">Congenital myasthenic syndromes in childhood: diagnostic and management challenges.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kinali M,
|
||
Beeson D,
|
||
Pitt MC,
|
||
Jungbluth H,
|
||
Simonds AK,
|
||
Aloysius A,
|
||
Cockerill H,
|
||
Davis T,
|
||
Palace J,
|
||
Manzur AY,
|
||
Jimenez-Mallebrera C,
|
||
Sewry C,
|
||
Muntoni F,
|
||
Robb SA</span><br />
|
||
<span class="medgenPMjournal">J Neuroimmunol</span>
|
||
2008 Sep 15;201-202:6-12.
|
||
Epub 2008 Aug 15
|
||
doi: 10.1016/j.jneuroim.2008.06.026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18707767" target="_blank">18707767</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20myopathy%2021%20with%20early%20respiratory%20failure%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 (5)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37186601">The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Allen NM,
|
||
O'Rahelly M,
|
||
Eymard B,
|
||
Chouchane M,
|
||
Hahn A,
|
||
Kearns G,
|
||
Kim DS,
|
||
Byun SY,
|
||
Nguyen CE,
|
||
Schara-Schmidt U,
|
||
Kölbel H,
|
||
Marina AD,
|
||
Schneider-Gold C,
|
||
Roefke K,
|
||
Thieme A,
|
||
Van den Bergh P,
|
||
Avalos G,
|
||
Álvarez-Velasco R,
|
||
Natera-de Benito D,
|
||
Cheng MHM,
|
||
Chan WK,
|
||
Wan HS,
|
||
Thomas MA,
|
||
Borch L,
|
||
Lauzon J,
|
||
Kornblum C,
|
||
Reimann J,
|
||
Mueller A,
|
||
Kuntzer T,
|
||
Norwood F,
|
||
Ramdas S,
|
||
Jacobson LW,
|
||
Jie X,
|
||
Fernandez-Garcia MA,
|
||
Wraige E,
|
||
Lim M,
|
||
Lin JP,
|
||
Claeys KG,
|
||
Aktas S,
|
||
Oskoui M,
|
||
Hacohen Y,
|
||
Masud A,
|
||
Leite MI,
|
||
Palace J,
|
||
De Vivo D,
|
||
Vincent A,
|
||
Jungbluth H</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2023 Oct 3;146(10):4233-4246.
|
||
doi: 10.1093/brain/awad153.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37186601" target="_blank">37186601</a><a href="/pmc/articles/PMC10545502" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34384384">Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bouman K,
|
||
Groothuis JT,
|
||
Doorduin J,
|
||
van Alfen N,
|
||
Udink Ten Cate FEA,
|
||
van den Heuvel FMA,
|
||
Nijveldt R,
|
||
van Tilburg WCM,
|
||
Buckens SCFM,
|
||
Dittrich ATM,
|
||
Draaisma JMT,
|
||
Janssen MCH,
|
||
Kamsteeg EJ,
|
||
van Kleef ESB,
|
||
Koene S,
|
||
Smeitink JAM,
|
||
Küsters B,
|
||
van Tienen FHJ,
|
||
Smeets HJM,
|
||
van Engelen BGM,
|
||
Erasmus CE,
|
||
Voermans NC</span><br />
|
||
<span class="medgenPMjournal">BMC Neurol</span>
|
||
2021 Aug 12;21(1):313.
|
||
doi: 10.1186/s12883-021-02336-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34384384" target="_blank">34384384</a><a href="/pmc/articles/PMC8357962" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31484632">Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Graham RJ,
|
||
Muntoni F,
|
||
Hughes I,
|
||
Yum SW,
|
||
Kuntz NL,
|
||
Yang ML,
|
||
Byrne BJ,
|
||
Prasad S,
|
||
Alvarez R,
|
||
Genetti CA,
|
||
Haselkorn T,
|
||
James ES,
|
||
LaRusso LB,
|
||
Noursalehi M,
|
||
Rico S,
|
||
Beggs AH</span><br />
|
||
<span class="medgenPMjournal">Arch Dis Child</span>
|
||
2020 Apr;105(4):332-338.
|
||
Epub 2019 Sep 4
|
||
doi: 10.1136/archdischild-2019-317910.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31484632" target="_blank">31484632</a><a href="/pmc/articles/PMC7054136" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26108272">Infantile form of muscle phosphofructokinase deficiency in a premature neonate.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wu PL,
|
||
Yang YN,
|
||
Tey SL,
|
||
Yang CH,
|
||
Yang SN,
|
||
Lin CS</span><br />
|
||
<span class="medgenPMjournal">Pediatr Int</span>
|
||
2015 Aug;57(4):746-9.
|
||
Epub 2015 Jun 25
|
||
doi: 10.1111/ped.12616.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26108272" target="_blank">26108272</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25868664">Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huemer M,
|
||
Karall D,
|
||
Schossig A,
|
||
Abdenur JE,
|
||
Al Jasmi F,
|
||
Biagosch C,
|
||
Distelmaier F,
|
||
Freisinger P,
|
||
Graham BH,
|
||
Haack TB,
|
||
Hauser N,
|
||
Hertecant J,
|
||
Ebrahimi-Fakhari D,
|
||
Konstantopoulou V,
|
||
Leydiker K,
|
||
Lourenco CM,
|
||
Scholl-Bürgi S,
|
||
Wilichowski E,
|
||
Wolf NI,
|
||
Wortmann SB,
|
||
Taylor RW,
|
||
Mayr JA,
|
||
Bonnen PE,
|
||
Sperl W,
|
||
Prokisch H,
|
||
McFarland R</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2015 Sep;38(5):905-14.
|
||
Epub 2015 Apr 14
|
||
doi: 10.1007/s10545-015-9836-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25868664" target="_blank">25868664</a><a href="/pmc/articles/PMC4841446" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20myopathy%2021%20with%20early%20respiratory%20failure%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 (6)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35694931">INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dowling JJ,
|
||
Müller-Felber W,
|
||
Smith BK,
|
||
Bönnemann CG,
|
||
Kuntz NL,
|
||
Muntoni F,
|
||
Servais L,
|
||
Alfano LN,
|
||
Beggs AH,
|
||
Bilder DA,
|
||
Blaschek A,
|
||
Duong T,
|
||
Graham RJ,
|
||
Jain M,
|
||
Lawlor MW,
|
||
Lee J,
|
||
Coats J,
|
||
Lilien C,
|
||
Lowes LP,
|
||
MacBean V,
|
||
Neuhaus S,
|
||
Noursalehi M,
|
||
Pitts T,
|
||
Finlay C,
|
||
Christensen S,
|
||
Rafferty G,
|
||
Seferian AM,
|
||
Tsuchiya E,
|
||
James ES,
|
||
Miller W,
|
||
Sepulveda B,
|
||
Vila MC,
|
||
Prasad S,
|
||
Rico S,
|
||
Shieh PB;
|
||
INCEPTUS investigators</span><br />
|
||
<span class="medgenPMjournal">J Neuromuscul Dis</span>
|
||
2022;9(4):503-516.
|
||
doi: 10.3233/JND-210781.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35694931" target="_blank">35694931</a><a href="/pmc/articles/PMC9398079" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34384384">Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bouman K,
|
||
Groothuis JT,
|
||
Doorduin J,
|
||
van Alfen N,
|
||
Udink Ten Cate FEA,
|
||
van den Heuvel FMA,
|
||
Nijveldt R,
|
||
van Tilburg WCM,
|
||
Buckens SCFM,
|
||
Dittrich ATM,
|
||
Draaisma JMT,
|
||
Janssen MCH,
|
||
Kamsteeg EJ,
|
||
van Kleef ESB,
|
||
Koene S,
|
||
Smeitink JAM,
|
||
Küsters B,
|
||
van Tienen FHJ,
|
||
Smeets HJM,
|
||
van Engelen BGM,
|
||
Erasmus CE,
|
||
Voermans NC</span><br />
|
||
<span class="medgenPMjournal">BMC Neurol</span>
|
||
2021 Aug 12;21(1):313.
|
||
doi: 10.1186/s12883-021-02336-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34384384" target="_blank">34384384</a><a href="/pmc/articles/PMC8357962" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18707767">Congenital myasthenic syndromes in childhood: diagnostic and management challenges.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kinali M,
|
||
Beeson D,
|
||
Pitt MC,
|
||
Jungbluth H,
|
||
Simonds AK,
|
||
Aloysius A,
|
||
Cockerill H,
|
||
Davis T,
|
||
Palace J,
|
||
Manzur AY,
|
||
Jimenez-Mallebrera C,
|
||
Sewry C,
|
||
Muntoni F,
|
||
Robb SA</span><br />
|
||
<span class="medgenPMjournal">J Neuroimmunol</span>
|
||
2008 Sep 15;201-202:6-12.
|
||
Epub 2008 Aug 15
|
||
doi: 10.1016/j.jneuroim.2008.06.026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18707767" target="_blank">18707767</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20myopathy%2021%20with%20early%20respiratory%20failure%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 (3)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31484632">Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Graham RJ,
|
||
Muntoni F,
|
||
Hughes I,
|
||
Yum SW,
|
||
Kuntz NL,
|
||
Yang ML,
|
||
Byrne BJ,
|
||
Prasad S,
|
||
Alvarez R,
|
||
Genetti CA,
|
||
Haselkorn T,
|
||
James ES,
|
||
LaRusso LB,
|
||
Noursalehi M,
|
||
Rico S,
|
||
Beggs AH</span><br />
|
||
<span class="medgenPMjournal">Arch Dis Child</span>
|
||
2020 Apr;105(4):332-338.
|
||
Epub 2019 Sep 4
|
||
doi: 10.1136/archdischild-2019-317910.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31484632" target="_blank">31484632</a><a href="/pmc/articles/PMC7054136" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26108272">Infantile form of muscle phosphofructokinase deficiency in a premature neonate.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wu PL,
|
||
Yang YN,
|
||
Tey SL,
|
||
Yang CH,
|
||
Yang SN,
|
||
Lin CS</span><br />
|
||
<span class="medgenPMjournal">Pediatr Int</span>
|
||
2015 Aug;57(4):746-9.
|
||
Epub 2015 Jun 25
|
||
doi: 10.1111/ped.12616.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26108272" target="_blank">26108272</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25868664">Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huemer M,
|
||
Karall D,
|
||
Schossig A,
|
||
Abdenur JE,
|
||
Al Jasmi F,
|
||
Biagosch C,
|
||
Distelmaier F,
|
||
Freisinger P,
|
||
Graham BH,
|
||
Haack TB,
|
||
Hauser N,
|
||
Hertecant J,
|
||
Ebrahimi-Fakhari D,
|
||
Konstantopoulou V,
|
||
Leydiker K,
|
||
Lourenco CM,
|
||
Scholl-Bürgi S,
|
||
Wilichowski E,
|
||
Wolf NI,
|
||
Wortmann SB,
|
||
Taylor RW,
|
||
Mayr JA,
|
||
Bonnen PE,
|
||
Sperl W,
|
||
Prokisch H,
|
||
McFarland R</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2015 Sep;38(5):905-14.
|
||
Epub 2015 Apr 14
|
||
doi: 10.1007/s10545-015-9836-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25868664" target="_blank">25868664</a><a href="/pmc/articles/PMC4841446" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20myopathy%2021%20with%20early%20respiratory%20failure%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 (3)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35694931">INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dowling JJ,
|
||
Müller-Felber W,
|
||
Smith BK,
|
||
Bönnemann CG,
|
||
Kuntz NL,
|
||
Muntoni F,
|
||
Servais L,
|
||
Alfano LN,
|
||
Beggs AH,
|
||
Bilder DA,
|
||
Blaschek A,
|
||
Duong T,
|
||
Graham RJ,
|
||
Jain M,
|
||
Lawlor MW,
|
||
Lee J,
|
||
Coats J,
|
||
Lilien C,
|
||
Lowes LP,
|
||
MacBean V,
|
||
Neuhaus S,
|
||
Noursalehi M,
|
||
Pitts T,
|
||
Finlay C,
|
||
Christensen S,
|
||
Rafferty G,
|
||
Seferian AM,
|
||
Tsuchiya E,
|
||
James ES,
|
||
Miller W,
|
||
Sepulveda B,
|
||
Vila MC,
|
||
Prasad S,
|
||
Rico S,
|
||
Shieh PB;
|
||
INCEPTUS investigators</span><br />
|
||
<span class="medgenPMjournal">J Neuromuscul Dis</span>
|
||
2022;9(4):503-516.
|
||
doi: 10.3233/JND-210781.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35694931" target="_blank">35694931</a><a href="/pmc/articles/PMC9398079" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31484632">Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Graham RJ,
|
||
Muntoni F,
|
||
Hughes I,
|
||
Yum SW,
|
||
Kuntz NL,
|
||
Yang ML,
|
||
Byrne BJ,
|
||
Prasad S,
|
||
Alvarez R,
|
||
Genetti CA,
|
||
Haselkorn T,
|
||
James ES,
|
||
LaRusso LB,
|
||
Noursalehi M,
|
||
Rico S,
|
||
Beggs AH</span><br />
|
||
<span class="medgenPMjournal">Arch Dis Child</span>
|
||
2020 Apr;105(4):332-338.
|
||
Epub 2019 Sep 4
|
||
doi: 10.1136/archdischild-2019-317910.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31484632" target="_blank">31484632</a><a href="/pmc/articles/PMC7054136" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25868664">Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huemer M,
|
||
Karall D,
|
||
Schossig A,
|
||
Abdenur JE,
|
||
Al Jasmi F,
|
||
Biagosch C,
|
||
Distelmaier F,
|
||
Freisinger P,
|
||
Graham BH,
|
||
Haack TB,
|
||
Hauser N,
|
||
Hertecant J,
|
||
Ebrahimi-Fakhari D,
|
||
Konstantopoulou V,
|
||
Leydiker K,
|
||
Lourenco CM,
|
||
Scholl-Bürgi S,
|
||
Wilichowski E,
|
||
Wolf NI,
|
||
Wortmann SB,
|
||
Taylor RW,
|
||
Mayr JA,
|
||
Bonnen PE,
|
||
Sperl W,
|
||
Prokisch H,
|
||
McFarland R</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2015 Sep;38(5):905-14.
|
||
Epub 2015 Apr 14
|
||
doi: 10.1007/s10545-015-9836-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25868664" target="_blank">25868664</a><a href="/pmc/articles/PMC4841446" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20myopathy%2021%20with%20early%20respiratory%20failure%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 (3)</a></div></div>
|
||
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|
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C5830424%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
|
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<li><a href="/gtr/tests?term=C5830424%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
|
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<li><a href="/gtr/tests?term=C5830424%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
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