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<meta name="keywords" content="C0699743, cmd, congenital md, congenital muscular dystrophy, disease or syndrome, mdc, 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 muscular dystrophy (CMD) is a heterogeneous group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle wasting, weakness or delayed motor milestones. The group includes myopathies with abnormalities at different cellular levels: the extracellular matrix (MDC1A, UCMD; see these terms), the dystrophin-associated glycoprotein complex (alphadystroglycanopathies, integrinopathies see these terms), the endoplasmic reticulum (rigid spine syndrome [RSMD1], and the nuclear envelope (LMNA-related CMD; [L-CMD] and Nesprin-1-related CMD; see these terms)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=147063
|
||
ConceptID=C0699743
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Congenital muscular dystrophy</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>147063</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.">C0699743</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 MD</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/79147">FKRP</a>, <a target="_blank" href="/gene/57190">SELENON</a>, <a target="_blank" href="/gene/55624">POMGNT1</a>, <a target="_blank" href="/gene/29954">POMT2</a>, <a target="_blank" href="/gene/29925">GMPPB</a>, <a target="_blank" href="/gene/10585">POMT1</a>, <a target="_blank" href="/gene/9215">LARGE1</a>, <a target="_blank" href="/gene/6261">RYR1</a>, <a target="_blank" href="/gene/3908">LAMA2</a>, <a target="_blank" href="/gene/3679">ITGA7</a>, <a target="_blank" href="/gene/2218">FKTN</a>, <a target="_blank" href="/gene/1291">COL6A1</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0019950" target="_blank">MONDO:0019950</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=97242">ORPHA97242</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>
|
||
<div class="portlet mgSection" id="ID_100">
|
||
<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 muscular dystrophy (CMD) is a heterogeneous group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle wasting, weakness or delayed motor milestones. The group includes myopathies with abnormalities at different cellular levels: the extracellular matrix (MDC1A, UCMD; see these terms), the dystrophin-associated glycoprotein complex (alphadystroglycanopathies, integrinopathies see these terms), the endoplasmic reticulum (rigid spine syndrome [RSMD1], and the nuclear envelope (LMNA-related CMD; [L-CMD] and Nesprin-1-related CMD; see these terms). [from <a title="Orphanet Rare Disease Ontology (ORDO)" href="http://www.orphadata.org/cgi-bin/inc/ordo_orphanet.inc.php" class="defSource" target="_blank">ORDO</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From CureCMD</strong><br />The congenital muscular dystrophies (CMDs) are a group of rare heterogeneous muscle diseases caused by genetically defined mutations leading to protein deficiencies that result in disturbed interactions between the extracellular matrix (ECM) and muscle cells. In CMD, ECM involvement leads to traditional muscular dystrophy mechanisms of sarcolemmal instability and novel mechanisms driven by primary matrix, intracellular and intranuclear pathology leading to degeneration, fibrosis, apoptosis, failed regeneration and failed muscle differentiation. In the CMDs, common pathology at the level of the muscle basal lamina of defective ECM-muscle interaction creates a shared CMD phenotype, with infant to childhood onset of hypotonia and muscle weakness typically followed by progressive contractures, nutritional deficiencies, scoliosis and respiratory insufficiency. Brain involvement may be present in certain subtypes and may manifest as seizures, mental retardation, learning and speech disability with or without structural brain malformation. Possible additional eye abnormalities include cataracts, myopia and retinal detachment. CMD onset within the first 2 years of life presumes intrauterine muscle disease pathology (developmental hit) compounded by ongoing postnatal stresses and perturbations. CMD subtypes can be subdivided into extracellular and intracellular localization of the affected protein. The three most common forms of CMD affect proteins localized in the extracellular matrix with abnormalities in the three genes coding for collagen 6, laminin a2 (part of laminin 211 heterotrimer) and hypoglycosylation of a-dystroglycan, an important receptor for laminin 211 and other ECM components on the surface of muscle cells and in the brain. Intracellularly localized proteins include RYR1, the calcium release channel of the sarcoplasmic reticulum and selenoprotein 1 (SEPN1), likely involved in the cellular response to oxidative stress. Lamin A/C, an intermediate filament of the inner nuclear envelope protein also may present with a congenital muscular dystrophy phenotype.</div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<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=C0699743[DISCUI]&test_type=Clinical" ref="ncbi_uid=147063">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</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=147063" ref="ncbi_uid=147063">V</a></span></span><span class="TLline">Congenital muscular dystrophy</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN117976[DISCUI]&test_type=Clinical" ref="ncbi_uid=468393">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1503/" ref="ncbi_uid=468393">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=468393" ref="ncbi_uid=468393">V</a></span></span><span class="TLline"><a href="/medgen/468393" ref="tree=GTR&ncbi_uid=468393&link_uid=468393" title="View MedGen record for 'Collagen 6-related myopathy'">Collagen 6-related 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=CN029274[DISCUI]&test_type=Clinical" ref="ncbi_uid=893688">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1503/" ref="ncbi_uid=893688">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=893688" ref="ncbi_uid=893688">V</a></span></span><span class="TLline"><a href="/medgen/893688" ref="tree=GTR&ncbi_uid=893688&link_uid=893688" title="View MedGen record for 'Bethlem myopathy 1A'">Bethlem myopathy 1A</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/468402" ref="tree=GTR&ncbi_uid=468402&link_uid=468402" title="View MedGen record for 'Intermediate phenotype'">Intermediate phenotype</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=C0410179[DISCUI]&test_type=Clinical" ref="ncbi_uid=98046">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=98046" target="_blank" href="/omim/254090">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1503/" ref="ncbi_uid=98046">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=98046" ref="ncbi_uid=98046">V</a></span></span><span class="TLline"><a href="/medgen/98046" ref="tree=GTR&ncbi_uid=98046&link_uid=98046" title="View MedGen record for 'Ullrich congenital muscular dystrophy 1A'">Ullrich congenital muscular dystrophy 1A</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=346746" target="_blank" href="/omim/604801">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/346746" ref="tree=GTR&ncbi_uid=346746&link_uid=346746" title="View MedGen record for 'Congenital muscular dystrophy 1B'">Congenital muscular dystrophy 1B</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=C2750786[DISCUI]&test_type=Clinical" ref="ncbi_uid=413044">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=413044" target="_blank" href="/omim/600536">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=413044" ref="ncbi_uid=413044">V</a></span></span><span class="TLline"><a href="/medgen/413044" ref="tree=GTR&ncbi_uid=413044&link_uid=413044" title="View MedGen record for 'Congenital muscular dystrophy due to integrin alpha-7 deficiency'">Congenital muscular dystrophy due to integrin alpha-7 deficiency</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=C0410180[DISCUI]&test_type=Clinical" ref="ncbi_uid=98047">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0410180[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=98047">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=98047" target="_blank" href="/omim/602771">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=98047" ref="ncbi_uid=98047">V</a></span></span><span class="TLline"><a href="/medgen/98047" ref="tree=GTR&ncbi_uid=98047&link_uid=98047" title="View MedGen record for 'Eichsfeld type congenital muscular dystrophy'">Eichsfeld type congenital muscular dystrophy</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=C5679788[DISCUI]&test_type=Clinical" ref="ncbi_uid=1826054">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK97333/" ref="ncbi_uid=1826054">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1826054" ref="ncbi_uid=1826054">V</a></span></span><span class="TLline"><a href="/medgen/1826054" ref="tree=GTR&ncbi_uid=1826054&link_uid=1826054" title="View MedGen record for 'LAMA2-related muscular dystrophy'">LAMA2-related muscular dystrophy</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=C1842898[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=335826">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=335826" target="_blank" href="/omim/156225">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=335826" ref="ncbi_uid=335826">V</a></span></span><span class="TLline"><a href="/medgen/335826" ref="tree=GTR&ncbi_uid=335826&link_uid=335826" title="View MedGen record for 'Congenital muscular dystrophy due to partial LAMA2 deficiency'">Congenital muscular dystrophy due to partial LAMA2 deficiency</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=C1263858[DISCUI]&test_type=Clinical" ref="ncbi_uid=224728">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=224728" target="_blank" href="/omim/156225">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK84550%20OR%20NBK97333)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=224728">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=224728" ref="ncbi_uid=224728">V</a></span></span><span class="TLline"><a href="/medgen/224728" ref="tree=GTR&ncbi_uid=224728&link_uid=224728" title="View MedGen record for 'Merosin deficient congenital muscular dystrophy'">Merosin deficient congenital muscular dystrophy</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0270962[DISCUI]&test_type=Clinical" ref="ncbi_uid=75731">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0270962[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=75731">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=75731" ref="ncbi_uid=75731">V</a></span></span><span class="TLline"><a href="/medgen/75731" ref="tree=GTR&ncbi_uid=75731&link_uid=75731" title="View MedGen record for 'Multiminicore myopathy'">Multiminicore 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=C5830701[DISCUI]&test_type=Clinical" ref="ncbi_uid=1841337">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1841337" target="_blank" href="/omim/117000">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1841337" ref="ncbi_uid=1841337">V</a></span></span><span class="TLline"><a href="/medgen/1841337" ref="tree=GTR&ncbi_uid=1841337&link_uid=1841337" title="View MedGen record for 'Central core myopathy'">Central core myopathy</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1850674[DISCUI]&test_type=Clinical" ref="ncbi_uid=340597">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=340597" target="_blank" href="/omim/180901">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=340597" ref="ncbi_uid=340597">V</a></span></span><span class="TLline"><a href="/medgen/340597" ref="tree=GTR&ncbi_uid=340597&link_uid=340597" title="View MedGen record for 'Congenital multicore myopathy with external ophthalmoplegia'">Congenital multicore myopathy with external ophthalmoplegia</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0457133[DISCUI]&test_type=Clinical" ref="ncbi_uid=105341">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</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=105341" ref="ncbi_uid=105341">V</a></span></span><span class="TLline"><a href="/medgen/105341" ref="tree=GTR&ncbi_uid=105341&link_uid=105341" title="View MedGen record for 'Muscle eye brain disease'">Muscle eye brain disease</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=C3151519[DISCUI]&test_type=Clinical" ref="ncbi_uid=462869">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462869" target="_blank" href="/omim/253280">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462869" ref="ncbi_uid=462869">V</a></span></span><span class="TLline"><a href="/medgen/462869" ref="tree=GTR&ncbi_uid=462869&link_uid=462869" title="View MedGen record for 'Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3'">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2751052[DISCUI]&test_type=Clinical" ref="ncbi_uid=413465">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=413465" target="_blank" href="/omim/607440">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=413465" ref="ncbi_uid=413465">V</a></span></span><span class="TLline"><a href="/medgen/413465" ref="tree=GTR&ncbi_uid=413465&link_uid=413465" title="View MedGen record for 'Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4'">Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4</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=C2936406[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=423526">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</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=423526" ref="ncbi_uid=423526">V</a></span></span><span class="TLline"><a href="/medgen/423526" ref="tree=GTR&ncbi_uid=423526&link_uid=423526" title="View MedGen record for 'Qualitative or quantitative defects of alpha-dystroglycan'">Qualitative or quantitative defects of alpha-dystroglycan</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=C0410174[DISCUI]&test_type=Clinical" ref="ncbi_uid=140820">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=140820" target="_blank" href="/omim/253800">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1206/" ref="ncbi_uid=140820">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=140820" ref="ncbi_uid=140820">V</a></span></span><span class="TLline"><a href="/medgen/140820" ref="tree=GTR&ncbi_uid=140820&link_uid=140820" title="View MedGen record for 'Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4'">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4</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=C4284790[DISCUI]&test_type=Clinical" ref="ncbi_uid=924974">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=924974" target="_blank" href="/omim/236670">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=924974" ref="ncbi_uid=924974">V</a></span></span><span class="TLline"><a href="/medgen/924974" ref="tree=GTR&ncbi_uid=924974&link_uid=924974" title="View MedGen record for 'Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1'">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1</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=C3809216[DISCUI]&test_type=Clinical" ref="ncbi_uid=815546">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=815546" target="_blank" href="/omim/615320">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=815546" ref="ncbi_uid=815546">V</a></span></span><span class="TLline"><a href="/medgen/815546" ref="tree=GTR&ncbi_uid=815546&link_uid=815546" title="View MedGen record for 'Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14'">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14</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=C3150413[DISCUI]&test_type=Clinical" ref="ncbi_uid=461763">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=461763" target="_blank" href="/omim/606596">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=461763" ref="ncbi_uid=461763">V</a></span></span><span class="TLline"><a href="/medgen/461763" ref="tree=GTR&ncbi_uid=461763&link_uid=461763" title="View MedGen record for 'Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5'">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5</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=C1847759[DISCUI]&test_type=Clinical" ref="ncbi_uid=335764">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=335764" target="_blank" href="/omim/606612">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=335764" ref="ncbi_uid=335764">V</a></span></span><span class="TLline"><a href="/medgen/335764" ref="tree=GTR&ncbi_uid=335764&link_uid=335764" title="View MedGen record for 'Muscular dystrophy-dystroglycanopathy type B5'">Muscular dystrophy-dystroglycanopathy type B5</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 muscular dystrophy</span><ul><li><span class="TLline"><a href="/medgen/1647450" ref="tree=MeSH" title="MedGen record for Autosomal recessive myogenic arthrogryposis multiplex congenita">Autosomal recessive myogenic arthrogryposis multiplex congenita</a></span></li><li><span class="TLline"><a href="/medgen/331805" ref="tree=MeSH" title="MedGen record for Bethlem myopathy">Bethlem myopathy</a></span><ul><li><span class="TLline"><a href="/medgen/907426" ref="tree=MeSH" title="MedGen record for Bethlem myopathy 2">Bethlem myopathy 2</a></span></li><li><span class="TLline"><a href="/medgen/893688" ref="tree=MeSH" title="MedGen record for Bethlem myopathy 1A">Bethlem myopathy 1A</a></span></li><li><span class="TLline"><a href="/medgen/1859128" ref="tree=MeSH" title="MedGen record for Bethlem myopathy 1B">Bethlem myopathy 1B</a></span></li><li><span class="TLline"><a href="/medgen/1854240" ref="tree=MeSH" title="MedGen record for Bethlem myopathy 1C">Bethlem myopathy 1C</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/468393" ref="tree=MeSH" title="MedGen record for Collagen 6-related myopathy">Collagen 6-related myopathy</a></span><ul><li><span class="TLline"><a href="/medgen/468402" ref="tree=MeSH" title="MedGen record for Intermediate phenotype">Intermediate phenotype</a></span></li><li><span class="TLline"><a href="/medgen/98046" ref="tree=MeSH" title="MedGen record for Ullrich congenital muscular dystrophy 1A">Ullrich congenital muscular dystrophy 1A</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/346746" ref="tree=MeSH" title="MedGen record for Congenital muscular dystrophy 1B">Congenital muscular dystrophy 1B</a></span></li><li><span class="TLline"><a href="/medgen/413044" ref="tree=MeSH" title="MedGen record for Congenital muscular dystrophy due to integrin alpha-7 deficiency">Congenital muscular dystrophy due to integrin alpha-7 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/413043" ref="tree=MeSH" title="MedGen record for Congenital muscular dystrophy due to LMNA mutation">Congenital muscular dystrophy due to LMNA mutation</a></span></li><li><span class="TLline"><a href="/medgen/1633415" ref="tree=MeSH" title="MedGen record for Congenital muscular dystrophy with hyperlaxity">Congenital muscular dystrophy with hyperlaxity</a></span></li><li><span class="TLline"><a href="/medgen/376896" ref="tree=MeSH" title="MedGen record for Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome">Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/934703" ref="tree=MeSH" title="MedGen record for Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome">Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1388555" ref="tree=MeSH" title="MedGen record for Congenital myopathy, Paradas type">Congenital myopathy, Paradas type</a></span></li><li><span class="TLline"><a href="/medgen/98047" ref="tree=MeSH" title="MedGen record for Eichsfeld type congenital muscular dystrophy">Eichsfeld type congenital muscular dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/1826054" ref="tree=MeSH" title="MedGen record for LAMA2-related muscular dystrophy">LAMA2-related muscular dystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/335826" ref="tree=MeSH" title="MedGen record for Congenital muscular dystrophy due to partial LAMA2 deficiency">Congenital muscular dystrophy due to partial LAMA2 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/224728" ref="tree=MeSH" title="MedGen record for Merosin deficient congenital muscular dystrophy">Merosin deficient congenital muscular dystrophy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/355943" ref="tree=MeSH" title="MedGen record for Megaconial type congenital muscular dystrophy">Megaconial type congenital muscular dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/75731" ref="tree=MeSH" title="MedGen record for Multiminicore myopathy">Multiminicore myopathy</a></span><ul><li><span class="TLline"><a href="/medgen/334470" ref="tree=MeSH" title="MedGen record for Antenatal multiminicore disease with arthrogryposis multiplex congenita">Antenatal multiminicore disease with arthrogryposis multiplex congenita</a></span></li><li><span class="TLline"><a href="/medgen/1841337" ref="tree=MeSH" title="MedGen record for Central core myopathy">Central core myopathy</a></span></li><li><span class="TLline"><a href="/medgen/340597" ref="tree=MeSH" title="MedGen record for Congenital multicore myopathy with external ophthalmoplegia">Congenital multicore myopathy with external ophthalmoplegia</a></span><ul><li><span class="TLline"><a href="/medgen/871103" ref="tree=MeSH" title="MedGen record for Type 1 and type 2 muscle fiber minicore regions">Type 1 and type 2 muscle fiber minicore regions</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/961596" ref="tree=MeSH" title="MedGen record for Minicore myopathy">Minicore myopathy</a></span></li><li><span class="TLline"><a href="/medgen/396213" ref="tree=MeSH" title="MedGen record for Moderate multiminicore disease with hand involvement">Moderate multiminicore disease with hand involvement</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/105341" ref="tree=MeSH" title="MedGen record for Muscle eye brain disease">Muscle eye brain disease</a></span><ul><li><span class="TLline"><a href="/medgen/462869" ref="tree=MeSH" title="MedGen record for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/413465" ref="tree=MeSH" title="MedGen record for Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4">Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4</a></span></li><li><span class="TLline"><a href="/medgen/423526" ref="tree=MeSH" title="MedGen record for Qualitative or quantitative defects of alpha-dystroglycan">Qualitative or quantitative defects of alpha-dystroglycan</a></span><ul><li><span class="TLline"><a href="/medgen/140820" ref="tree=MeSH" title="MedGen record for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4</a></span></li><li><span class="TLline"><a href="/medgen/924974" ref="tree=MeSH" title="MedGen record for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1</a></span></li><li><span class="TLline"><a href="/medgen/815546" ref="tree=MeSH" title="MedGen record for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14</a></span></li><li><span class="TLline"><a href="/medgen/461763" ref="tree=MeSH" title="MedGen record for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5</a></span></li><li><span class="TLline"><a href="/medgen/335764" ref="tree=MeSH" title="MedGen record for Muscular dystrophy-dystroglycanopathy type B5">Muscular dystrophy-dystroglycanopathy type B5</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/976241" ref="tree=MeSH" title="MedGen record for Rigid spine syndrome">Rigid spine syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1642667" ref="tree=MeSH" title="MedGen record for Ullrich congenital muscular dystrophy">Ullrich congenital muscular dystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/899150" ref="tree=MeSH" title="MedGen record for Ullrich congenital muscular dystrophy 2">Ullrich congenital muscular dystrophy 2</a></span></li><li><span class="TLline"><a href="/medgen/1859300" ref="tree=MeSH" title="MedGen record for Ullrich congenital muscular dystrophy 1B">Ullrich congenital muscular dystrophy 1B</a></span></li><li><span class="TLline"><a href="/medgen/1862699" ref="tree=MeSH" title="MedGen record for Ullrich congenital muscular dystrophy 1C">Ullrich congenital muscular dystrophy 1C</a></span></li></ul></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=12865&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Congenital muscular dystrophy</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/37023487">Collagen VI-related myopathies: clinical variability, phenotype-genotype correlation and exploratory transcriptome study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kwong AK,
|
||
Zhang Y,
|
||
Ho RS,
|
||
Gao Y,
|
||
Ling X,
|
||
Tsang MH,
|
||
Luk HM,
|
||
Chung BH,
|
||
Bönnemann CG,
|
||
Javed A,
|
||
Chan SH</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2023 May;33(5):371-381.
|
||
Epub 2023 Mar 12
|
||
doi: 10.1016/j.nmd.2023.03.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37023487" target="_blank">37023487</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26481930">Evidence-based guideline summary: Evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haliloglu G,
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||
Topaloglu H</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2015 Oct 20;85(16):1432.
|
||
doi: 10.1212/WNL.0000000000002051.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26481930" target="_blank">26481930</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/422630">Congenital muscular dystrophy: the importance of early diagnosis and orthopaedic management in the long-term prognosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jones R,
|
||
Khan R,
|
||
Hughes S,
|
||
Dubowitz V</span><br />
|
||
<span class="medgenPMjournal">J Bone Joint Surg Br</span>
|
||
1979 Feb;61(1):13-7.
|
||
doi: 10.1302/0301-620X.61B1.422630.
|
||
<span class="bold">PMID: </span><a href="/pubmed/422630" target="_blank">422630</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22congenital%20muscular%20dystrophy%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 (44)</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/33852912">Reducing acetylated tau is neuroprotective in brain injury.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shin MK,
|
||
Vázquez-Rosa E,
|
||
Koh Y,
|
||
Dhar M,
|
||
Chaubey K,
|
||
Cintrón-Pérez CJ,
|
||
Barker S,
|
||
Miller E,
|
||
Franke K,
|
||
Noterman MF,
|
||
Seth D,
|
||
Allen RS,
|
||
Motz CT,
|
||
Rao SR,
|
||
Skelton LA,
|
||
Pardue MT,
|
||
Fliesler SJ,
|
||
Wang C,
|
||
Tracy TE,
|
||
Gan L,
|
||
Liebl DJ,
|
||
Savarraj JPJ,
|
||
Torres GL,
|
||
Ahnstedt H,
|
||
McCullough LD,
|
||
Kitagawa RS,
|
||
Choi HA,
|
||
Zhang P,
|
||
Hou Y,
|
||
Chiang CW,
|
||
Li L,
|
||
Ortiz F,
|
||
Kilgore JA,
|
||
Williams NS,
|
||
Whitehair VC,
|
||
Gefen T,
|
||
Flanagan ME,
|
||
Stamler JS,
|
||
Jain MK,
|
||
Kraus A,
|
||
Cheng F,
|
||
Reynolds JD,
|
||
Pieper AA</span><br />
|
||
<span class="medgenPMjournal">Cell</span>
|
||
2021 May 13;184(10):2715-2732.e23.
|
||
Epub 2021 Apr 13
|
||
doi: 10.1016/j.cell.2021.03.032.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33852912" target="_blank">33852912</a><a href="/pmc/articles/PMC8491234" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32122377">Walking and weakness in children: a narrative review of gait and functional ambulation in paediatric neuromuscular disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kennedy RA,
|
||
Carroll K,
|
||
McGinley JL,
|
||
Paterson KL</span><br />
|
||
<span class="medgenPMjournal">J Foot Ankle Res</span>
|
||
2020 Mar 2;13(1):10.
|
||
doi: 10.1186/s13047-020-0378-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32122377" target="_blank">32122377</a><a href="/pmc/articles/PMC7052968" target="_blank" class="PubMedFree">Free PMC Article</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/24314752">Diaphragmatic dysfunction in Collagen VI myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Quijano-Roy S,
|
||
Khirani S,
|
||
Colella M,
|
||
Ramirez A,
|
||
Aloui S,
|
||
Wehbi S,
|
||
de Becdelievre A,
|
||
Carlier RY,
|
||
Allamand V,
|
||
Richard P,
|
||
Azzi V,
|
||
Estournet B,
|
||
Fauroux B</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2014 Feb;24(2):125-33.
|
||
Epub 2013 Nov 16
|
||
doi: 10.1016/j.nmd.2013.11.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24314752" target="_blank">24314752</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23622361">Congenital muscular dystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kirschner J</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2013;113:1377-85.
|
||
doi: 10.1016/B978-0-444-59565-2.00008-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23622361" target="_blank">23622361</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20muscular%20dystrophy%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 (336)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<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/33852912">Reducing acetylated tau is neuroprotective in brain injury.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shin MK,
|
||
Vázquez-Rosa E,
|
||
Koh Y,
|
||
Dhar M,
|
||
Chaubey K,
|
||
Cintrón-Pérez CJ,
|
||
Barker S,
|
||
Miller E,
|
||
Franke K,
|
||
Noterman MF,
|
||
Seth D,
|
||
Allen RS,
|
||
Motz CT,
|
||
Rao SR,
|
||
Skelton LA,
|
||
Pardue MT,
|
||
Fliesler SJ,
|
||
Wang C,
|
||
Tracy TE,
|
||
Gan L,
|
||
Liebl DJ,
|
||
Savarraj JPJ,
|
||
Torres GL,
|
||
Ahnstedt H,
|
||
McCullough LD,
|
||
Kitagawa RS,
|
||
Choi HA,
|
||
Zhang P,
|
||
Hou Y,
|
||
Chiang CW,
|
||
Li L,
|
||
Ortiz F,
|
||
Kilgore JA,
|
||
Williams NS,
|
||
Whitehair VC,
|
||
Gefen T,
|
||
Flanagan ME,
|
||
Stamler JS,
|
||
Jain MK,
|
||
Kraus A,
|
||
Cheng F,
|
||
Reynolds JD,
|
||
Pieper AA</span><br />
|
||
<span class="medgenPMjournal">Cell</span>
|
||
2021 May 13;184(10):2715-2732.e23.
|
||
Epub 2021 Apr 13
|
||
doi: 10.1016/j.cell.2021.03.032.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33852912" target="_blank">33852912</a><a href="/pmc/articles/PMC8491234" target="_blank" class="PubMedFree">Free PMC Article</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/16092630">Congenital muscular dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mercuri E,
|
||
Longman C</span><br />
|
||
<span class="medgenPMjournal">Pediatr Ann</span>
|
||
2005 Jul;34(7):560-2, 564-8.
|
||
doi: 10.3928/0090-4481-20050701-13.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16092630" target="_blank">16092630</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1595429">Walker-Warburg syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rhodes RE,
|
||
Hatten HP Jr,
|
||
Ellington KS</span><br />
|
||
<span class="medgenPMjournal">AJNR Am J Neuroradiol</span>
|
||
1992 Jan-Feb;13(1):123-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1595429" target="_blank">1595429</a><a href="/pmc/articles/PMC8331786" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20muscular%20dystrophy%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 (490)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39143029">Megaconial congenital muscular dystrophy: Importance of cutaneous features and successful response to ustekinumab.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Palacios-Diaz RD,
|
||
Pozuelo-Ruiz M,
|
||
Martínez-Castellano F,
|
||
Évole-Buselli M</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
2025 Jan-Feb;42(1):118-120.
|
||
Epub 2024 Aug 14
|
||
doi: 10.1111/pde.15716.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39143029" target="_blank">39143029</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36804094">Antisense oligonucleotide targeting DMPK in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, phase 1/2a trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thornton CA,
|
||
Moxley RT 3rd,
|
||
Eichinger K,
|
||
Heatwole C,
|
||
Mignon L,
|
||
Arnold WD,
|
||
Ashizawa T,
|
||
Day JW,
|
||
Dent G,
|
||
Tanner MK,
|
||
Duong T,
|
||
Greene EP,
|
||
Herbelin L,
|
||
Johnson NE,
|
||
King W,
|
||
Kissel JT,
|
||
Leung DG,
|
||
Lott DJ,
|
||
Norris DA,
|
||
Pucillo EM,
|
||
Schell W,
|
||
Statland JM,
|
||
Stinson N,
|
||
Subramony SH,
|
||
Xia S,
|
||
Bishop KM,
|
||
Bennett CF</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2023 Mar;22(3):218-228.
|
||
doi: 10.1016/S1474-4422(23)00001-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36804094" target="_blank">36804094</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33852912">Reducing acetylated tau is neuroprotective in brain injury.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shin MK,
|
||
Vázquez-Rosa E,
|
||
Koh Y,
|
||
Dhar M,
|
||
Chaubey K,
|
||
Cintrón-Pérez CJ,
|
||
Barker S,
|
||
Miller E,
|
||
Franke K,
|
||
Noterman MF,
|
||
Seth D,
|
||
Allen RS,
|
||
Motz CT,
|
||
Rao SR,
|
||
Skelton LA,
|
||
Pardue MT,
|
||
Fliesler SJ,
|
||
Wang C,
|
||
Tracy TE,
|
||
Gan L,
|
||
Liebl DJ,
|
||
Savarraj JPJ,
|
||
Torres GL,
|
||
Ahnstedt H,
|
||
McCullough LD,
|
||
Kitagawa RS,
|
||
Choi HA,
|
||
Zhang P,
|
||
Hou Y,
|
||
Chiang CW,
|
||
Li L,
|
||
Ortiz F,
|
||
Kilgore JA,
|
||
Williams NS,
|
||
Whitehair VC,
|
||
Gefen T,
|
||
Flanagan ME,
|
||
Stamler JS,
|
||
Jain MK,
|
||
Kraus A,
|
||
Cheng F,
|
||
Reynolds JD,
|
||
Pieper AA</span><br />
|
||
<span class="medgenPMjournal">Cell</span>
|
||
2021 May 13;184(10):2715-2732.e23.
|
||
Epub 2021 Apr 13
|
||
doi: 10.1016/j.cell.2021.03.032.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33852912" target="_blank">33852912</a><a href="/pmc/articles/PMC8491234" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28604469">Case Report of Cardiac Arrest After Succinylcholine in a Child With Muscle-Eye-Brain Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hackmann T,
|
||
Skidmore DL,
|
||
MacManus B</span><br />
|
||
<span class="medgenPMjournal">A A Case Rep</span>
|
||
2017 Oct 15;9(8):244-247.
|
||
doi: 10.1213/XAA.0000000000000577.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28604469" target="_blank">28604469</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24095150">Successful treatment of atelectasis with Dornase alpha in a patient with congenital muscular dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Crescimanno G,
|
||
Marrone O</span><br />
|
||
<span class="medgenPMjournal">Rev Port Pneumol</span>
|
||
2014 Jan-Feb;20(1):42-5.
|
||
Epub 2013 Oct 2
|
||
doi: 10.1016/j.rppneu.2012.12.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24095150" target="_blank">24095150</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20muscular%20dystrophy%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 (76)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36804094">Antisense oligonucleotide targeting DMPK in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, phase 1/2a trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thornton CA,
|
||
Moxley RT 3rd,
|
||
Eichinger K,
|
||
Heatwole C,
|
||
Mignon L,
|
||
Arnold WD,
|
||
Ashizawa T,
|
||
Day JW,
|
||
Dent G,
|
||
Tanner MK,
|
||
Duong T,
|
||
Greene EP,
|
||
Herbelin L,
|
||
Johnson NE,
|
||
King W,
|
||
Kissel JT,
|
||
Leung DG,
|
||
Lott DJ,
|
||
Norris DA,
|
||
Pucillo EM,
|
||
Schell W,
|
||
Statland JM,
|
||
Stinson N,
|
||
Subramony SH,
|
||
Xia S,
|
||
Bishop KM,
|
||
Bennett CF</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2023 Mar;22(3):218-228.
|
||
doi: 10.1016/S1474-4422(23)00001-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36804094" target="_blank">36804094</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24314752">Diaphragmatic dysfunction in Collagen VI myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Quijano-Roy S,
|
||
Khirani S,
|
||
Colella M,
|
||
Ramirez A,
|
||
Aloui S,
|
||
Wehbi S,
|
||
de Becdelievre A,
|
||
Carlier RY,
|
||
Allamand V,
|
||
Richard P,
|
||
Azzi V,
|
||
Estournet B,
|
||
Fauroux B</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2014 Feb;24(2):125-33.
|
||
Epub 2013 Nov 16
|
||
doi: 10.1016/j.nmd.2013.11.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24314752" target="_blank">24314752</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23622361">Congenital muscular dystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kirschner J</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2013;113:1377-85.
|
||
doi: 10.1016/B978-0-444-59565-2.00008-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23622361" target="_blank">23622361</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16887026">Walker-Warburg syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vajsar J,
|
||
Schachter H</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2006 Aug 3;1:29.
|
||
doi: 10.1186/1750-1172-1-29.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16887026" target="_blank">16887026</a><a href="/pmc/articles/PMC1553431" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/422630">Congenital muscular dystrophy: the importance of early diagnosis and orthopaedic management in the long-term prognosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jones R,
|
||
Khan R,
|
||
Hughes S,
|
||
Dubowitz V</span><br />
|
||
<span class="medgenPMjournal">J Bone Joint Surg Br</span>
|
||
1979 Feb;61(1):13-7.
|
||
doi: 10.1302/0301-620X.61B1.422630.
|
||
<span class="bold">PMID: </span><a href="/pubmed/422630" target="_blank">422630</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20muscular%20dystrophy%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 (197)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36804094">Antisense oligonucleotide targeting DMPK in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, phase 1/2a trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thornton CA,
|
||
Moxley RT 3rd,
|
||
Eichinger K,
|
||
Heatwole C,
|
||
Mignon L,
|
||
Arnold WD,
|
||
Ashizawa T,
|
||
Day JW,
|
||
Dent G,
|
||
Tanner MK,
|
||
Duong T,
|
||
Greene EP,
|
||
Herbelin L,
|
||
Johnson NE,
|
||
King W,
|
||
Kissel JT,
|
||
Leung DG,
|
||
Lott DJ,
|
||
Norris DA,
|
||
Pucillo EM,
|
||
Schell W,
|
||
Statland JM,
|
||
Stinson N,
|
||
Subramony SH,
|
||
Xia S,
|
||
Bishop KM,
|
||
Bennett CF</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2023 Mar;22(3):218-228.
|
||
doi: 10.1016/S1474-4422(23)00001-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36804094" target="_blank">36804094</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28879884">Global muscular dystrophy research: A 25-year bibliometric perspective.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ram S</span><br />
|
||
<span class="medgenPMjournal">Neurol India</span>
|
||
2017 Sep-Oct;65(5):993-1000.
|
||
doi: 10.4103/neuroindia.NI_1241_16.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28879884" target="_blank">28879884</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24095150">Successful treatment of atelectasis with Dornase alpha in a patient with congenital muscular dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Crescimanno G,
|
||
Marrone O</span><br />
|
||
<span class="medgenPMjournal">Rev Port Pneumol</span>
|
||
2014 Jan-Feb;20(1):42-5.
|
||
Epub 2013 Oct 2
|
||
doi: 10.1016/j.rppneu.2012.12.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24095150" target="_blank">24095150</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12788071">Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Manya H,
|
||
Sakai K,
|
||
Kobayashi K,
|
||
Taniguchi K,
|
||
Kawakita M,
|
||
Toda T,
|
||
Endo T</span><br />
|
||
<span class="medgenPMjournal">Biochem Biophys Res Commun</span>
|
||
2003 Jun 20;306(1):93-7.
|
||
doi: 10.1016/s0006-291x(03)00924-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12788071" target="_blank">12788071</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6737009">Cortical dysplasia in congenital muscular dystrophy with central nervous system involvement (Fukuyama type).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Takada K,
|
||
Nakamura H,
|
||
Tanaka J</span><br />
|
||
<span class="medgenPMjournal">J Neuropathol Exp Neurol</span>
|
||
1984 Jul;43(4):395-407.
|
||
doi: 10.1097/00005072-198407000-00005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6737009" target="_blank">6737009</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20muscular%20dystrophy%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 (286)</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/29067961">Genetic and Clinical Advances of Congenital Muscular Dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fu XN,
|
||
Xiong H</span><br />
|
||
<span class="medgenPMjournal">Chin Med J (Engl)</span>
|
||
2017 Nov 5;130(21):2624-2631.
|
||
doi: 10.4103/0366-6999.217091.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29067961" target="_blank">29067961</a><a href="/pmc/articles/PMC5678264" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20muscular%20dystrophy%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 (1)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
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|
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</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
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|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0699743%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (25)</a></li>
|
||
<li><a href="/gtr/tests?term=C0699743%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (31)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0699743%5bDISCUI%5d" target="_blank">See all (31)</a></total></li>
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</ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=97242" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Congenital%20muscular%20dystrophy" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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</div>
|
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