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<meta name="keywords" content="C1842898, congenital muscular dystrophy due to partial lama2 deficiency, disease or syndrome, muscular dystrophy, congenital, due to partial lama2 deficiency, 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="LAMA2-related muscular dystrophy is a disorder that causes weakness and wasting (atrophy) of muscles used for movement (skeletal muscles). This condition varies in severity, from a severe, early-onset type to a milder, late-onset form.\n\nSymptoms of late-onset LAMA2-related muscular dystrophy become evident later in childhood or adulthood, and are similar to those of a group of muscle disorders classified as limb-girdle muscular dystrophies. In late-onset LAMA2-related muscular dystrophy, the muscles most affected are those closest to the body (proximal muscles), specifically the muscles of the shoulders, upper arms, pelvic area, and thighs. Children with late-onset LAMA2-related muscular dystrophy sometimes have delayed development of motor skills such as walking, but generally achieve the ability to walk without assistance. Over time, they may develop rigidity of the back, joint contractures, scoliosis, and breathing problems. However, most affected individuals retain the ability to walk and climb stairs.\n\nAs affected children grow, they often develop an abnormal, gradually worsening side-to-side curvature of the spine (scoliosis) and inward curvature of the back (lordosis). Children with early-onset LAMA2-related muscular dystrophy often do not develop the ability to walk. Difficulty with speech may result from weakness of the facial muscles and an enlarged tongue. Seizures occur in about a third of individuals with early-onset LAMA2-related muscular dystrophy; rarely, heart complications occur in this form of the disorder.\n\nEarly-onset LAMA2-related muscular dystrophy is apparent at birth or within the first few months of life. It is considered part of a class of muscle disorders called congenital muscular dystrophies and is sometimes called congenital muscular dystrophy type 1A. Affected infants may have severe muscle weakness, lack of muscle tone (hypotonia), little spontaneous movement, and joint deformities (contractures). Weakness of the muscles in the face and throat can result in feeding difficulties and an inability to grow and gain weight at the expected rate. Respiratory insufficiency, which occurs when muscles in the chest are weakened, causes a weak cry and breathing problems that can lead to frequent, potentially life-threatening lung infections." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=335826
|
||
ConceptID=C1842898
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Congenital muscular dystrophy due to partial LAMA2 deficiency</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335826</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.">C1842898</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>Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/156225" target="_blank">156225</a>; <a href="https://omim.org/entry/607855" target="_blank">607855</a></td></tr>
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||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">LAMA2-related muscular dystrophy is a disorder that causes weakness and wasting (atrophy) of muscles used for movement (skeletal muscles). This condition varies in severity, from a severe, early-onset type to a milder, late-onset form.<br /><br />Symptoms of late-onset LAMA2-related muscular dystrophy become evident later in childhood or adulthood, and are similar to those of a group of muscle disorders classified as limb-girdle muscular dystrophies. In late-onset LAMA2-related muscular dystrophy, the muscles most affected are those closest to the body (proximal muscles), specifically the muscles of the shoulders, upper arms, pelvic area, and thighs. Children with late-onset LAMA2-related muscular dystrophy sometimes have delayed development of motor skills such as walking, but generally achieve the ability to walk without assistance. Over time, they may develop rigidity of the back, joint contractures, scoliosis, and breathing problems. However, most affected individuals retain the ability to walk and climb stairs.<br /><br />As affected children grow, they often develop an abnormal, gradually worsening side-to-side curvature of the spine (scoliosis) and inward curvature of the back (lordosis). Children with early-onset LAMA2-related muscular dystrophy often do not develop the ability to walk. Difficulty with speech may result from weakness of the facial muscles and an enlarged tongue. Seizures occur in about a third of individuals with early-onset LAMA2-related muscular dystrophy; rarely, heart complications occur in this form of the disorder.<br /><br />Early-onset LAMA2-related muscular dystrophy is apparent at birth or within the first few months of life. It is considered part of a class of muscle disorders called congenital muscular dystrophies and is sometimes called congenital muscular dystrophy type 1A. Affected infants may have severe muscle weakness, lack of muscle tone (hypotonia), little spontaneous movement, and joint deformities (contractures). Weakness of the muscles in the face and throat can result in feeding difficulties and an inability to grow and gain weight at the expected rate. Respiratory insufficiency, which occurs when muscles in the chest are weakened, causes a weak cry and breathing problems that can lead to frequent, potentially life-threatening lung infections. [from <a title="MedlinePlus Genetics" href="https://medlineplus.gov/genetics/" class="defSource" target="_blank">MedlinePlus Genetics</a>]</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>
|
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<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></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="TLclosed"><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"><a href="/medgen/147063" ref="tree=GTR&ncbi_uid=147063&link_uid=147063" title="View MedGen record for 'Congenital muscular dystrophy'">Congenital 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=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="matched_ds"><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">Congenital muscular dystrophy due to partial LAMA2 deficiency</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="TLline"><a href="/medgen/147063" ref="tree=MeSH" title="MedGen record for Congenital muscular dystrophy">Congenital muscular dystrophy</a></span><ul><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="matched_ds">Congenital muscular dystrophy due to partial LAMA2 deficiency</span></li></ul></li></ul></li></ul></div></div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_105">
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<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>
|
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/24611677">Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xiong H,
|
||
Tan D,
|
||
Wang S,
|
||
Song S,
|
||
Yang H,
|
||
Gao K,
|
||
Liu A,
|
||
Jiao H,
|
||
Mao B,
|
||
Ding J,
|
||
Chang X,
|
||
Wang J,
|
||
Wu Y,
|
||
Yuan Y,
|
||
Jiang Y,
|
||
Zhang F,
|
||
Wu H,
|
||
Wu X</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
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2015 Mar;87(3):233-43.
|
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Epub 2014 Mar 31
|
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doi: 10.1111/cge.12366.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24611677" target="_blank">24611677</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16216942">LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Di Blasi C,
|
||
Piga D,
|
||
Brioschi P,
|
||
Moroni I,
|
||
Pini A,
|
||
Ruggieri A,
|
||
Zanotti S,
|
||
Uziel G,
|
||
Jarre L,
|
||
Della Giustina E,
|
||
Scuderi C,
|
||
Jonsrud C,
|
||
Mantegazza R,
|
||
Morandi L,
|
||
Mora M</span><br />
|
||
<span class="medgenPMjournal">Arch Neurol</span>
|
||
2005 Oct;62(10):1582-6.
|
||
doi: 10.1001/archneur.62.10.1582.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16216942" target="_blank">16216942</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9185181">Prenatal diagnosis in merosin-deficient congenital muscular dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Naom I,
|
||
Sewry C,
|
||
D'Alessandro M,
|
||
Topaloglu H,
|
||
Ferlini A,
|
||
Wilson L,
|
||
Dubowitz V,
|
||
Muntoni F</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
1997 May;7(3):176-9.
|
||
doi: 10.1016/s0960-8966(97)00448-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9185181" target="_blank">9185181</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(congenital%20muscular%20dystrophy%20due%20to%20partial%20lama2%20deficiency)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (5)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39177609">An international retrospective early natural history study of LAMA2-related dystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hinkley L,
|
||
Orbach R,
|
||
Park J,
|
||
Alvarez R,
|
||
Dziewczapolski G,
|
||
Bönnemann CG,
|
||
Foley AR</span><br />
|
||
<span class="medgenPMjournal">J Neuromuscul Dis</span>
|
||
2024 Nov;11(6):1238-1246.
|
||
doi: 10.3233/JND-240048.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39177609" target="_blank">39177609</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34559299">Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Quijano-Roy S,
|
||
Haberlova J,
|
||
Castiglioni C,
|
||
Vissing J,
|
||
Munell F,
|
||
Rivier F,
|
||
Stojkovic T,
|
||
Malfatti E,
|
||
Gómez García de la Banda M,
|
||
Tasca G,
|
||
Costa Comellas L,
|
||
Benezit A,
|
||
Amthor H,
|
||
Dabaj I,
|
||
Gontijo Camelo C,
|
||
Laforêt P,
|
||
Rendu J,
|
||
Romero NB,
|
||
Cavassa E,
|
||
Fattori F,
|
||
Beroud C,
|
||
Zídková J,
|
||
Leboucq N,
|
||
Løkken N,
|
||
Sanchez-Montañez Á,
|
||
Ortega X,
|
||
Kynčl M,
|
||
Metay C,
|
||
Gómez-Andrés D,
|
||
Carlier RY</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2022 May;269(5):2414-2429.
|
||
Epub 2021 Sep 24
|
||
doi: 10.1007/s00415-021-10806-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34559299" target="_blank">34559299</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34384384">Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bouman K,
|
||
Groothuis JT,
|
||
Doorduin J,
|
||
van Alfen N,
|
||
Udink Ten Cate FEA,
|
||
van den Heuvel FMA,
|
||
Nijveldt R,
|
||
van Tilburg WCM,
|
||
Buckens SCFM,
|
||
Dittrich ATM,
|
||
Draaisma JMT,
|
||
Janssen MCH,
|
||
Kamsteeg EJ,
|
||
van Kleef ESB,
|
||
Koene S,
|
||
Smeitink JAM,
|
||
Küsters B,
|
||
van Tienen FHJ,
|
||
Smeets HJM,
|
||
van Engelen BGM,
|
||
Erasmus CE,
|
||
Voermans NC</span><br />
|
||
<span class="medgenPMjournal">BMC Neurol</span>
|
||
2021 Aug 12;21(1):313.
|
||
doi: 10.1186/s12883-021-02336-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34384384" target="_blank">34384384</a><a href="/pmc/articles/PMC8357962" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25500573">LAMA2-related congenital muscular dystrophy complicated by West syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Camacho A,
|
||
Núñez N,
|
||
Dekomien G,
|
||
Hernández-Laín A,
|
||
de Aragón AM,
|
||
Simón R</span><br />
|
||
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
||
2015 Mar;19(2):243-7.
|
||
Epub 2014 Dec 2
|
||
doi: 10.1016/j.ejpn.2014.11.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25500573" target="_blank">25500573</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9185182">Genetics of laminin alpha 2 chain (or merosin) deficient congenital muscular dystrophy: from identification of mutations to prenatal diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guicheney P,
|
||
Vignier N,
|
||
Helbling-Leclerc A,
|
||
Nissinen M,
|
||
Zhang X,
|
||
Cruaud C,
|
||
Lambert JC,
|
||
Richelme C,
|
||
Topaloglu H,
|
||
Merlini L,
|
||
Barois A,
|
||
Schwartz K,
|
||
Tomé FM,
|
||
Tryggvason K,
|
||
Fardeau M</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
1997 May;7(3):180-6.
|
||
doi: 10.1016/s0960-8966(97)00460-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9185182" target="_blank">9185182</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20muscular%20dystrophy%20due%20to%20partial%20LAMA2%20deficiency%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 (8)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34559299">Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Quijano-Roy S,
|
||
Haberlova J,
|
||
Castiglioni C,
|
||
Vissing J,
|
||
Munell F,
|
||
Rivier F,
|
||
Stojkovic T,
|
||
Malfatti E,
|
||
Gómez García de la Banda M,
|
||
Tasca G,
|
||
Costa Comellas L,
|
||
Benezit A,
|
||
Amthor H,
|
||
Dabaj I,
|
||
Gontijo Camelo C,
|
||
Laforêt P,
|
||
Rendu J,
|
||
Romero NB,
|
||
Cavassa E,
|
||
Fattori F,
|
||
Beroud C,
|
||
Zídková J,
|
||
Leboucq N,
|
||
Løkken N,
|
||
Sanchez-Montañez Á,
|
||
Ortega X,
|
||
Kynčl M,
|
||
Metay C,
|
||
Gómez-Andrés D,
|
||
Carlier RY</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2022 May;269(5):2414-2429.
|
||
Epub 2021 Sep 24
|
||
doi: 10.1007/s00415-021-10806-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34559299" target="_blank">34559299</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32266982">Epilepsy in LAMA2-related muscular dystrophy: An electro-clinico-radiological characterization.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Natera-de Benito D,
|
||
Muchart J,
|
||
Itzep D,
|
||
Ortez C,
|
||
González-Quereda L,
|
||
Gallano P,
|
||
Ramirez A,
|
||
Aparicio J,
|
||
Domínguez-Carral J,
|
||
Carrera-García L,
|
||
Expósito-Escudero J,
|
||
Pardo Cardozo N,
|
||
Cuadras D,
|
||
Codina A,
|
||
Jou C,
|
||
Jimenez-Mallebrera C,
|
||
Palau F,
|
||
Colomer J,
|
||
Arzimanoglou A,
|
||
Nascimento A,
|
||
San Antonio-Arce V</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2020 May;61(5):971-983.
|
||
Epub 2020 Apr 8
|
||
doi: 10.1111/epi.16493.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32266982" target="_blank">32266982</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24611677">Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xiong H,
|
||
Tan D,
|
||
Wang S,
|
||
Song S,
|
||
Yang H,
|
||
Gao K,
|
||
Liu A,
|
||
Jiao H,
|
||
Mao B,
|
||
Ding J,
|
||
Chang X,
|
||
Wang J,
|
||
Wu Y,
|
||
Yuan Y,
|
||
Jiang Y,
|
||
Zhang F,
|
||
Wu H,
|
||
Wu X</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2015 Mar;87(3):233-43.
|
||
Epub 2014 Mar 31
|
||
doi: 10.1111/cge.12366.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24611677" target="_blank">24611677</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16216942">LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Di Blasi C,
|
||
Piga D,
|
||
Brioschi P,
|
||
Moroni I,
|
||
Pini A,
|
||
Ruggieri A,
|
||
Zanotti S,
|
||
Uziel G,
|
||
Jarre L,
|
||
Della Giustina E,
|
||
Scuderi C,
|
||
Jonsrud C,
|
||
Mantegazza R,
|
||
Morandi L,
|
||
Mora M</span><br />
|
||
<span class="medgenPMjournal">Arch Neurol</span>
|
||
2005 Oct;62(10):1582-6.
|
||
doi: 10.1001/archneur.62.10.1582.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16216942" target="_blank">16216942</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9185181">Prenatal diagnosis in merosin-deficient congenital muscular dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Naom I,
|
||
Sewry C,
|
||
D'Alessandro M,
|
||
Topaloglu H,
|
||
Ferlini A,
|
||
Wilson L,
|
||
Dubowitz V,
|
||
Muntoni F</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
1997 May;7(3):176-9.
|
||
doi: 10.1016/s0960-8966(97)00448-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9185181" target="_blank">9185181</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20muscular%20dystrophy%20due%20to%20partial%20LAMA2%20deficiency%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 (18)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39177609">An international retrospective early natural history study of LAMA2-related dystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hinkley L,
|
||
Orbach R,
|
||
Park J,
|
||
Alvarez R,
|
||
Dziewczapolski G,
|
||
Bönnemann CG,
|
||
Foley AR</span><br />
|
||
<span class="medgenPMjournal">J Neuromuscul Dis</span>
|
||
2024 Nov;11(6):1238-1246.
|
||
doi: 10.3233/JND-240048.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39177609" target="_blank">39177609</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34384384">Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bouman K,
|
||
Groothuis JT,
|
||
Doorduin J,
|
||
van Alfen N,
|
||
Udink Ten Cate FEA,
|
||
van den Heuvel FMA,
|
||
Nijveldt R,
|
||
van Tilburg WCM,
|
||
Buckens SCFM,
|
||
Dittrich ATM,
|
||
Draaisma JMT,
|
||
Janssen MCH,
|
||
Kamsteeg EJ,
|
||
van Kleef ESB,
|
||
Koene S,
|
||
Smeitink JAM,
|
||
Küsters B,
|
||
van Tienen FHJ,
|
||
Smeets HJM,
|
||
van Engelen BGM,
|
||
Erasmus CE,
|
||
Voermans NC</span><br />
|
||
<span class="medgenPMjournal">BMC Neurol</span>
|
||
2021 Aug 12;21(1):313.
|
||
doi: 10.1186/s12883-021-02336-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34384384" target="_blank">34384384</a><a href="/pmc/articles/PMC8357962" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32266982">Epilepsy in LAMA2-related muscular dystrophy: An electro-clinico-radiological characterization.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Natera-de Benito D,
|
||
Muchart J,
|
||
Itzep D,
|
||
Ortez C,
|
||
González-Quereda L,
|
||
Gallano P,
|
||
Ramirez A,
|
||
Aparicio J,
|
||
Domínguez-Carral J,
|
||
Carrera-García L,
|
||
Expósito-Escudero J,
|
||
Pardo Cardozo N,
|
||
Cuadras D,
|
||
Codina A,
|
||
Jou C,
|
||
Jimenez-Mallebrera C,
|
||
Palau F,
|
||
Colomer J,
|
||
Arzimanoglou A,
|
||
Nascimento A,
|
||
San Antonio-Arce V</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2020 May;61(5):971-983.
|
||
Epub 2020 Apr 8
|
||
doi: 10.1111/epi.16493.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32266982" target="_blank">32266982</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25500573">LAMA2-related congenital muscular dystrophy complicated by West syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Camacho A,
|
||
Núñez N,
|
||
Dekomien G,
|
||
Hernández-Laín A,
|
||
de Aragón AM,
|
||
Simón R</span><br />
|
||
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
||
2015 Mar;19(2):243-7.
|
||
Epub 2014 Dec 2
|
||
doi: 10.1016/j.ejpn.2014.11.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25500573" target="_blank">25500573</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23773998">Triggering regeneration and tackling apoptosis: a combinatorial approach to treating congenital muscular dystrophy type 1 A.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yamauchi J,
|
||
Kumar A,
|
||
Duarte L,
|
||
Mehuron T,
|
||
Girgenrath M</span><br />
|
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<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
2013 Nov 1;22(21):4306-17.
|
||
Epub 2013 Jun 16
|
||
doi: 10.1093/hmg/ddt280.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23773998" target="_blank">23773998</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20muscular%20dystrophy%20due%20to%20partial%20LAMA2%20deficiency%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 (5)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34074572">A cryptic intronic LAMA2 insertion in a boy with mild congenital muscular dystrophy type 1A.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Specht S,
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||
Duff J,
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Charlton R,
|
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Polvikoski T,
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Barresi R,
|
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Töpf A,
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Straub V</span><br />
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<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2021 Jul;31(7):660-665.
|
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Epub 2021 Apr 1
|
||
doi: 10.1016/j.nmd.2021.03.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34074572" target="_blank">34074572</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32266982">Epilepsy in LAMA2-related muscular dystrophy: An electro-clinico-radiological characterization.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Natera-de Benito D,
|
||
Muchart J,
|
||
Itzep D,
|
||
Ortez C,
|
||
González-Quereda L,
|
||
Gallano P,
|
||
Ramirez A,
|
||
Aparicio J,
|
||
Domínguez-Carral J,
|
||
Carrera-García L,
|
||
Expósito-Escudero J,
|
||
Pardo Cardozo N,
|
||
Cuadras D,
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||
Codina A,
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||
Jou C,
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Jimenez-Mallebrera C,
|
||
Palau F,
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||
Colomer J,
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||
Arzimanoglou A,
|
||
Nascimento A,
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||
San Antonio-Arce V</span><br />
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<span class="medgenPMjournal">Epilepsia</span>
|
||
2020 May;61(5):971-983.
|
||
Epub 2020 Apr 8
|
||
doi: 10.1111/epi.16493.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32266982" target="_blank">32266982</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9674785">Laminin alpha2 chain-deficient congenital muscular dystrophy: variable epitope expression in severe and mild cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cohn RD,
|
||
Herrmann R,
|
||
Sorokin L,
|
||
Wewer UM,
|
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Voit T</span><br />
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<span class="medgenPMjournal">Neurology</span>
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1998 Jul;51(1):94-100.
|
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doi: 10.1212/wnl.51.1.94.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9674785" target="_blank">9674785</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20muscular%20dystrophy%20due%20to%20partial%20LAMA2%20deficiency%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39177609">An international retrospective early natural history study of LAMA2-related dystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hinkley L,
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||
Orbach R,
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||
Park J,
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||
Alvarez R,
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||
Dziewczapolski G,
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||
Bönnemann CG,
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||
Foley AR</span><br />
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||
<span class="medgenPMjournal">J Neuromuscul Dis</span>
|
||
2024 Nov;11(6):1238-1246.
|
||
doi: 10.3233/JND-240048.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39177609" target="_blank">39177609</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34559299">Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Quijano-Roy S,
|
||
Haberlova J,
|
||
Castiglioni C,
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||
Vissing J,
|
||
Munell F,
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||
Rivier F,
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||
Stojkovic T,
|
||
Malfatti E,
|
||
Gómez García de la Banda M,
|
||
Tasca G,
|
||
Costa Comellas L,
|
||
Benezit A,
|
||
Amthor H,
|
||
Dabaj I,
|
||
Gontijo Camelo C,
|
||
Laforêt P,
|
||
Rendu J,
|
||
Romero NB,
|
||
Cavassa E,
|
||
Fattori F,
|
||
Beroud C,
|
||
Zídková J,
|
||
Leboucq N,
|
||
Løkken N,
|
||
Sanchez-Montañez Á,
|
||
Ortega X,
|
||
Kynčl M,
|
||
Metay C,
|
||
Gómez-Andrés D,
|
||
Carlier RY</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2022 May;269(5):2414-2429.
|
||
Epub 2021 Sep 24
|
||
doi: 10.1007/s00415-021-10806-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34559299" target="_blank">34559299</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32266982">Epilepsy in LAMA2-related muscular dystrophy: An electro-clinico-radiological characterization.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Natera-de Benito D,
|
||
Muchart J,
|
||
Itzep D,
|
||
Ortez C,
|
||
González-Quereda L,
|
||
Gallano P,
|
||
Ramirez A,
|
||
Aparicio J,
|
||
Domínguez-Carral J,
|
||
Carrera-García L,
|
||
Expósito-Escudero J,
|
||
Pardo Cardozo N,
|
||
Cuadras D,
|
||
Codina A,
|
||
Jou C,
|
||
Jimenez-Mallebrera C,
|
||
Palau F,
|
||
Colomer J,
|
||
Arzimanoglou A,
|
||
Nascimento A,
|
||
San Antonio-Arce V</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2020 May;61(5):971-983.
|
||
Epub 2020 Apr 8
|
||
doi: 10.1111/epi.16493.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32266982" target="_blank">32266982</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21922472">Clinical and pathological heterogeneity in late-onset partial merosin deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rajakulendran S,
|
||
Parton M,
|
||
Holton JL,
|
||
Hanna MG</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2011 Oct;44(4):590-3.
|
||
doi: 10.1002/mus.22196.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21922472" target="_blank">21922472</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9674785">Laminin alpha2 chain-deficient congenital muscular dystrophy: variable epitope expression in severe and mild cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cohn RD,
|
||
Herrmann R,
|
||
Sorokin L,
|
||
Wewer UM,
|
||
Voit T</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
1998 Jul;51(1):94-100.
|
||
doi: 10.1212/wnl.51.1.94.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9674785" target="_blank">9674785</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20muscular%20dystrophy%20due%20to%20partial%20LAMA2%20deficiency%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 (8)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1842898%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1842898%5bDISCUI%5d" target="_blank">See all (1)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Congenital%20muscular%20dystrophy%20due%20to%20partial%20LAMA2%20deficiency" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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