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<meta name="keywords" content="C0270960, batten turner congenital myopathy, congenital myopathy, congenital myopathy, undefined/nonspecific, disease or syndrome, myopathy congenital, myopathy, congenital, 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="" /><meta name="robots" content="index,nofollow,noarchive" />
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||
<!--
|
||
UID=124381
|
||
ConceptID=C0270960
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Congenital myopathy</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>124381</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:">C0270960</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>Congenital Myopathy, Undefined/Nonspecific</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related gene:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/1180">CLCN1</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0019952" target="_blank">MONDO:0019952</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS117000" target="_blank">PS117000</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=97245">ORPHA97245</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_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0270960[DISCUI]&test_type=Clinical" ref="ncbi_uid=124381">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0270960[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=124381">R</a></span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=124381" ref="ncbi_uid=124381">V</a></span></span><span class="TLline">Congenital myopathy</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0027127[DISCUI]&test_type=Clinical" ref="ncbi_uid=10158">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=10158" target="_blank" href="/omim/255300">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1355/" ref="ncbi_uid=10158">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=10158" ref="ncbi_uid=10158">V</a></span></span><span class="TLline"><a href="/medgen/10158" ref="tree=GTR&ncbi_uid=10158&link_uid=10158" title="View MedGen record for 'Batten-Turner congenital myopathy'">Batten-Turner congenital myopathy</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2936781[DISCUI]&test_type=Clinical" ref="ncbi_uid=422446">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=422446" target="_blank" href="/omim/118425">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1355/" ref="ncbi_uid=422446">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=422446" ref="ncbi_uid=422446">V</a></span></span><span class="TLline"><a href="/medgen/422446" ref="tree=GTR&ncbi_uid=422446&link_uid=422446" title="View MedGen record for 'Congenital myotonia, autosomal dominant form'">Congenital myotonia, autosomal dominant form</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0751360[DISCUI]&test_type=Clinical" ref="ncbi_uid=155852">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=155852" target="_blank" href="/omim/118425">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1355/" ref="ncbi_uid=155852">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=155852" ref="ncbi_uid=155852">V</a></span></span><span class="TLline"><a href="/medgen/155852" ref="tree=GTR&ncbi_uid=155852&link_uid=155852" title="View MedGen record for 'Congenital myotonia, autosomal recessive form'">Congenital myotonia, autosomal recessive form</a></span></li></ul></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="matched_ds">Congenital myopathy</span><ul><li><span class="TLline"><a href="/medgen/340586" ref="tree=MeSH" title="MedGen record for Bailey-Bloch congenital myopathy">Bailey-Bloch congenital myopathy</a></span></li><li><span class="TLline"><a href="/medgen/10158" ref="tree=MeSH" title="MedGen record for Batten-Turner congenital myopathy">Batten-Turner congenital myopathy</a></span><ul><li><span class="TLline"><a href="/medgen/422446" ref="tree=MeSH" title="MedGen record for Congenital myotonia, autosomal dominant form">Congenital myotonia, autosomal dominant form</a></span></li><li><span class="TLline"><a href="/medgen/155852" ref="tree=MeSH" title="MedGen record for Congenital myotonia, autosomal recessive form">Congenital myotonia, autosomal recessive form</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1666762" ref="tree=MeSH" title="MedGen record for Benign Samaritan congenital myopathy">Benign Samaritan congenital myopathy</a></span></li><li><span class="TLline"><a href="/medgen/777197" ref="tree=MeSH" title="MedGen record for Cap myopathy">Cap myopathy</a></span></li><li><span class="TLline"><a href="/medgen/393406" ref="tree=MeSH" title="MedGen record for Compton-North congenital myopathy">Compton-North congenital myopathy</a></span></li><li><span class="TLline"><a href="/medgen/108177" ref="tree=MeSH" title="MedGen record for Congenital myopathy with fiber type disproportion">Congenital myopathy with fiber type disproportion</a></span></li><li><span class="TLline"><a href="/medgen/1642781" ref="tree=MeSH" title="MedGen record for Congenital myopathy with myasthenic-like onset">Congenital myopathy with myasthenic-like onset</a></span></li><li><span class="TLline"><a href="/medgen/1672638" ref="tree=MeSH" title="MedGen record for Congenital myopathy with reduced type 2 muscle fibers">Congenital myopathy with reduced type 2 muscle fibers</a></span></li><li><span class="TLline"><a href="/medgen/338115" ref="tree=MeSH" title="MedGen record for Congenital nonprogressive myopathy with Moebius and Robin sequences">Congenital nonprogressive myopathy with Moebius and Robin sequences</a></span><ul><li><span class="TLline"><a href="/medgen/1804638" ref="tree=MeSH" title="MedGen record for Carey-Fineman-Ziter syndrome 1">Carey-Fineman-Ziter syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/1800921" ref="tree=MeSH" title="MedGen record for Carey-Fineman-Ziter syndrome 2">Carey-Fineman-Ziter syndrome 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/371817" ref="tree=MeSH" title="MedGen record for Cylindrical spirals myopathy">Cylindrical spirals myopathy</a></span></li><li><span class="TLline"><a href="/medgen/1631944" ref="tree=MeSH" title="MedGen record for Fetal akinesia-cerebral and retinal hemorrhage syndrome">Fetal akinesia-cerebral and retinal hemorrhage syndrome</a></span></li><li><span class="TLline"><a href="/medgen/337026" ref="tree=MeSH" title="MedGen record for Fingerprint body myopathy">Fingerprint body myopathy</a></span></li><li><span class="TLline"><a href="/medgen/922228" ref="tree=MeSH" title="MedGen record for Hyaline body myopathy">Hyaline body myopathy</a></span><ul><li><span class="TLline"><a href="/medgen/340603" ref="tree=MeSH" title="MedGen record for Myopathy, myosin storage, autosomal recessive">Myopathy, myosin storage, autosomal recessive</a></span></li><li><span class="TLline"><a href="/medgen/374868" ref="tree=MeSH" title="MedGen record for Myosin storage myopathy">Myosin storage myopathy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/381471" ref="tree=MeSH" title="MedGen record for Intellectual disability-myopathy-short stature-endocrine defect syndrome">Intellectual disability-myopathy-short stature-endocrine defect syndrome</a></span></li><li><span class="TLline"><a href="/medgen/894399" ref="tree=MeSH" title="MedGen record for Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome">Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/482309" ref="tree=MeSH" title="MedGen record for MEGF10-related myopathy">MEGF10-related myopathy</a></span></li><li><span class="TLline"><a href="/medgen/1636081" ref="tree=MeSH" title="MedGen record for Myopathy with hexagonally cross-linked tubular arrays">Myopathy with hexagonally cross-linked tubular arrays</a></span></li><li><span class="TLline"><a href="/medgen/98050" ref="tree=MeSH" title="MedGen record for Myopathy with tubular aggregates">Myopathy with tubular aggregates</a></span></li><li><span class="TLline"><a href="/medgen/1825940" ref="tree=MeSH" title="MedGen record for Myopathy, actin, congenital, with excess of thin myofilaments">Myopathy, actin, congenital, with excess of thin myofilaments</a></span></li><li><span class="TLline"><a href="/medgen/443987" ref="tree=MeSH" title="MedGen record for Qazi Markouizos syndrome">Qazi Markouizos syndrome</a></span></li><li><span class="TLline"><a href="/medgen/543081" ref="tree=MeSH" title="MedGen record for Reducing body myopathy">Reducing body myopathy</a></span></li><li><span class="TLline"><a href="/medgen/902080" ref="tree=MeSH" title="MedGen record for Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome">Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome</a></span></li><li><span class="TLline"><a href="/medgen/543080" ref="tree=MeSH" title="MedGen record for Zebra body myopathy">Zebra body myopathy</a></span></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=12867&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Congenital myopathy</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32778822">Genotype-phenotype correlations in recessive titinopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Savarese M,
|
||
Vihola A,
|
||
Oates EC,
|
||
Barresi R,
|
||
Fiorillo C,
|
||
Tasca G,
|
||
Jokela M,
|
||
Sarkozy A,
|
||
Luo S,
|
||
Díaz-Manera J,
|
||
Ehrstedt C,
|
||
Rojas-García R,
|
||
Sáenz A,
|
||
Muelas N,
|
||
Lonardo F,
|
||
Fodstad H,
|
||
Qureshi T,
|
||
Johari M,
|
||
Välipakka S,
|
||
Luque H,
|
||
Petiot P,
|
||
de Munain AL,
|
||
Pane M,
|
||
Mercuri E,
|
||
Torella A,
|
||
Nigro V,
|
||
Astrea G,
|
||
Santorelli FM,
|
||
Bruno C,
|
||
Kuntzer T,
|
||
Illa I,
|
||
Vílchez JJ,
|
||
Julien C,
|
||
Ferreiro A,
|
||
Malandrini A,
|
||
Zhao CB,
|
||
Casar-Borota O,
|
||
Davis M,
|
||
Muntoni F,
|
||
Hackman P,
|
||
Udd B</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2020 Dec;22(12):2029-2040.
|
||
Epub 2020 Aug 11
|
||
doi: 10.1038/s41436-020-0914-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32778822" target="_blank">32778822</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31926608">Exercise Training as Part of Musculoskeletal Management for Congenital Myopathy: Where Are We Now?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Adaikina A,
|
||
Hofman PL,
|
||
O'Grady GL,
|
||
Gusso S</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2020 Mar;104:13-18.
|
||
Epub 2019 Nov 29
|
||
doi: 10.1016/j.pediatrneurol.2019.10.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31926608" target="_blank">31926608</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23919265">Genotype-phenotype correlations in recessive RYR1-related myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amburgey K,
|
||
Bailey A,
|
||
Hwang JH,
|
||
Tarnopolsky MA,
|
||
Bonnemann CG,
|
||
Medne L,
|
||
Mathews KD,
|
||
Collins J,
|
||
Daube JR,
|
||
Wellman GP,
|
||
Callaghan B,
|
||
Clarke NF,
|
||
Dowling JJ</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2013 Aug 6;8:117.
|
||
doi: 10.1186/1750-1172-8-117.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23919265" target="_blank">23919265</a><a href="/pmc/articles/PMC3751094" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22congenital%20myopathy%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (22)</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/32703474">Distal Myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Felice KJ</span><br />
|
||
<span class="medgenPMjournal">Neurol Clin</span>
|
||
2020 Aug;38(3):637-659.
|
||
Epub 2020 Jun 11
|
||
doi: 10.1016/j.ncl.2020.03.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32703474" target="_blank">32703474</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32000926">Differentiating Congenital Myopathy from Congenital Muscular Dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Harmelink M</span><br />
|
||
<span class="medgenPMjournal">Clin Perinatol</span>
|
||
2020 Mar;47(1):197-209.
|
||
Epub 2019 Oct 11
|
||
doi: 10.1016/j.clp.2019.10.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32000926" target="_blank">32000926</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31794464">Congenital Muscular Dystrophy and Congenital Myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Butterfield RJ</span><br />
|
||
<span class="medgenPMjournal">Continuum (Minneap Minn)</span>
|
||
2019 Dec;25(6):1640-1661.
|
||
doi: 10.1212/CON.0000000000000792.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31794464" target="_blank">31794464</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31228046">Nemaline myopathies: a current view.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sewry CA,
|
||
Laitila JM,
|
||
Wallgren-Pettersson C</span><br />
|
||
<span class="medgenPMjournal">J Muscle Res Cell Motil</span>
|
||
2019 Jun;40(2):111-126.
|
||
Epub 2019 Jun 21
|
||
doi: 10.1007/s10974-019-09519-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31228046" target="_blank">31228046</a><a href="/pmc/articles/PMC6726674" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23919265">Genotype-phenotype correlations in recessive RYR1-related myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amburgey K,
|
||
Bailey A,
|
||
Hwang JH,
|
||
Tarnopolsky MA,
|
||
Bonnemann CG,
|
||
Medne L,
|
||
Mathews KD,
|
||
Collins J,
|
||
Daube JR,
|
||
Wellman GP,
|
||
Callaghan B,
|
||
Clarke NF,
|
||
Dowling JJ</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2013 Aug 6;8:117.
|
||
doi: 10.1186/1750-1172-8-117.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23919265" target="_blank">23919265</a><a href="/pmc/articles/PMC3751094" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20myopathy%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (193)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37757659">Pediatric Neuromuscular Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rathore G,
|
||
Kang PB</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2023 Dec;149:1-14.
|
||
Epub 2023 Aug 29
|
||
doi: 10.1016/j.pediatrneurol.2023.08.034.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37757659" target="_blank">37757659</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37562880">Neonatal and infantile hypotonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Younger DS</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2023;195:401-423.
|
||
doi: 10.1016/B978-0-323-98818-6.00011-X.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37562880" target="_blank">37562880</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32703474">Distal Myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Felice KJ</span><br />
|
||
<span class="medgenPMjournal">Neurol Clin</span>
|
||
2020 Aug;38(3):637-659.
|
||
Epub 2020 Jun 11
|
||
doi: 10.1016/j.ncl.2020.03.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32703474" target="_blank">32703474</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31794464">Congenital Muscular Dystrophy and Congenital Myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Butterfield RJ</span><br />
|
||
<span class="medgenPMjournal">Continuum (Minneap Minn)</span>
|
||
2019 Dec;25(6):1640-1661.
|
||
doi: 10.1212/CON.0000000000000792.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31794464" target="_blank">31794464</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27430445">Muscle ultrasound.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pillen S,
|
||
Boon A,
|
||
Van Alfen N</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2016;136:843-53.
|
||
doi: 10.1016/B978-0-444-53486-6.00042-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27430445" target="_blank">27430445</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20myopathy%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 (339)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37490306">MTM1 overexpression prevents and reverts BIN1-related centronuclear myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Giraud Q,
|
||
Spiegelhalter C,
|
||
Messaddeq N,
|
||
Laporte J</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2023 Oct 3;146(10):4158-4173.
|
||
doi: 10.1093/brain/awad251.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37490306" target="_blank">37490306</a><a href="/pmc/articles/PMC10545525" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36314217">Bone Quality in Patients with a Congenital Myopathy: A Scoping Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bouman K,
|
||
Dittrich ATM,
|
||
Groothuis JT,
|
||
van Engelen BGM,
|
||
Janssen MCH,
|
||
Voermans NC,
|
||
Draaisma JMT,
|
||
Erasmus CE</span><br />
|
||
<span class="medgenPMjournal">J Neuromuscul Dis</span>
|
||
2023;10(1):1-13.
|
||
doi: 10.3233/JND-221543.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36314217" target="_blank">36314217</a><a href="/pmc/articles/PMC9881028" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34267051">Genetic therapy for congenital myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maani N,
|
||
Karolczak S,
|
||
Dowling JJ</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Neurol</span>
|
||
2021 Oct 1;34(5):727-737.
|
||
doi: 10.1097/WCO.0000000000000978.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34267051" target="_blank">34267051</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31926608">Exercise Training as Part of Musculoskeletal Management for Congenital Myopathy: Where Are We Now?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Adaikina A,
|
||
Hofman PL,
|
||
O'Grady GL,
|
||
Gusso S</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2020 Mar;104:13-18.
|
||
Epub 2019 Nov 29
|
||
doi: 10.1016/j.pediatrneurol.2019.10.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31926608" target="_blank">31926608</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30230593">Trachelas tranquillus envenomation with presumed bacterial superinfection in a child.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Smith RJ,
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Osterhoudt K,
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<div class="nl"><a target="_blank" href="/pubmed/23919265">Genotype-phenotype correlations in recessive RYR1-related myopathies.</a></div>
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Bailey A,
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Hwang JH,
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Tarnopolsky MA,
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Bonnemann CG,
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Medne L,
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Mathews KD,
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Collins J,
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Daube JR,
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Wellman GP,
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Callaghan B,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20myopathy%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (142)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38438057">Compound heterozygous variants in MYBPC1 lead to severe distal arthrogryposis type-1 manifestations.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Iyer A,
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Mariano J,
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|
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||
<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>
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<div class="portlet_content ln"><span class="medgenPMauthor">Amado NG,
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Nosyreva ED,
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Thompson D,
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Egeland TJ,
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Ogujiofor OW,
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Yang M,
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Fusco AN,
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Passoni N,
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Mathews J,
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|
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||
<div class="nl"><a target="_blank" href="/pubmed/30611313">'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Garibaldi M,
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Rendu J,
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Brocard J,
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||
<div class="nl"><a target="_blank" href="/pubmed/23919265">Genotype-phenotype correlations in recessive RYR1-related myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amburgey K,
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Bailey A,
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Hwang JH,
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Tarnopolsky MA,
|
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Bonnemann CG,
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Medne L,
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Mathews KD,
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Collins J,
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Daube JR,
|
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Wellman GP,
|
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Callaghan B,
|
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Clarke NF,
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Dowling JJ</span><br />
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
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2013 Aug 6;8:117.
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<span class="bold">PMID: </span><a href="/pubmed/23919265" target="_blank">23919265</a><a href="/pmc/articles/PMC3751094" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12161072">Altered ryanodine receptor function in central core disease: leaky or uncoupled Ca(2+) release channels?</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Dirksen RT,
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<span class="bold">PMID: </span><a href="/pubmed/12161072" target="_blank">12161072</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20myopathy%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (156)</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/38397198">KLHL40-Related Myopathy: A Systematic Review and Insight into a Follow-up Biomarker via a New Case Report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Buchignani B,
|
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Marinella G,
|
||
Pasquariello R,
|
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Sgherri G,
|
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Frosini S,
|
||
Santorelli FM,
|
||
Orsini A,
|
||
Battini R,
|
||
Astrea G</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
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||
2024 Feb 5;15(2)
|
||
doi: 10.3390/genes15020208.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38397198" target="_blank">38397198</a><a href="/pmc/articles/PMC10887776" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37510268">Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marinella G,
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Orsini A,
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Scacciati M,
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Costa E,
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Santangelo A,
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Astrea G,
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Frosini S,
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Pasquariello R,
|
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Rubegni A,
|
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Sgherri G,
|
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Corsi M,
|
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Bonuccelli A,
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Battini R</span><br />
|
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<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2023 Jun 28;14(7)
|
||
doi: 10.3390/genes14071363.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37510268" target="_blank">37510268</a><a href="/pmc/articles/PMC10379235" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33325393">Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Desaphy JF,
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Altamura C,
|
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Vicart S,
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Fontaine B</span><br />
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<span class="medgenPMjournal">J Neuromuscul Dis</span>
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2021;8(3):357-381.
|
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doi: 10.3233/JND-200582.
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<span class="bold">PMID: </span><a href="/pubmed/33325393" target="_blank">33325393</a><a href="/pmc/articles/PMC8203248" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27888415">Magnetic resonance imaging patterns of muscle involvement in genetic muscle diseases: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Leung DG</span><br />
|
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<span class="medgenPMjournal">J Neurol</span>
|
||
2017 Jul;264(7):1320-1333.
|
||
Epub 2016 Nov 25
|
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doi: 10.1007/s00415-016-8350-6.
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||
<span class="bold">PMID: </span><a href="/pubmed/27888415" target="_blank">27888415</a><a href="/pmc/articles/PMC5445016" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15106246">Treatment for swallowing difficulties (dysphagia) in chronic muscle disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hill M,
|
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Hughes T,
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Milford C</span><br />
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<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
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2004;(2):CD004303.
|
||
doi: 10.1002/14651858.CD004303.pub2.
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<span class="bold">PMID: </span><a href="/pubmed/15106246" target="_blank">15106246</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20myopathy%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 (5)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0270960%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (5)</a></li>
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||
<li><a href="/gtr/tests?term=C0270960%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (1)</a></li>
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<li><a href="/gtr/tests?term=C0270960%5bDISCUI%5d&test_type=Research" target="_blank">Research (1)</a></li>
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<li><a href="/gtr/tests?term=C0270960%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (6)</a></li>
|
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<li><a href="/gtr/tests?term=C0270960%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0270960%5bDISCUI%5d" target="_blank">See all (7)</a></total></li>
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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=(%22congenital%20myopathy%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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