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<meta name="keywords" content="C0686353, disease or syndrome, dysf, erb's muscular dystrophy, leyden-mbius muscular dystrophy, leyden-mobius muscular dystrophy, lgmd, limb girdle muscular dystrophies, limb girdle muscular dystrophy, limb-girdle muscular dystrophies, limb-girdle muscular dystrophy, limb-girdle syndrome, muscular dystrophies, limb girdle, muscular dystrophies, limb-girdle, muscular dystrophy with predominantly proximal limb girdle distribution, muscular dystrophy, limb girdle, muscular dystrophy, limb-girdle, myopathic limb-girdle syndrome, sgcb, sgcd, 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="Limb-girdle muscular dystrophy is a term for a group of diseases that cause weakness and wasting of the muscles in the arms and legs. The muscles most affected are those closest to the body (proximal muscles), specifically the muscles of the shoulders, upper arms, pelvic area, and thighs.\n\nThe severity, age of onset, and features of limb-girdle muscle dystrophy vary among the many subtypes of this condition and may be inconsistent even within the same family. Signs and symptoms may first appear at any age and generally worsen with time, although in some cases they remain mild.\n\nIn the early stages of limb-girdle muscular dystrophy, affected individuals may have an unusual walking gait, such as waddling or walking on the balls of their feet, and may also have difficulty running. They may need to use their arms to press themselves up from a squatting position because of their weak thigh muscles. As the condition progresses, people with limb-girdle muscular dystrophy may eventually require wheelchair assistance.\n\nMuscle wasting may cause changes in posture or in the appearance of the shoulder, back, and arm. In particular, weak shoulder muscles tend to make the shoulder blades (scapulae) "stick out" from the back, a sign known as scapular winging. Affected individuals may also have an abnormally curved lower back (lordosis) or a spine that curves to the side (scoliosis). Some develop joint stiffness (contractures) that can restrict movement in their hips, knees, ankles, or elbows. Overgrowth (hypertrophy) of the calf muscles occurs in some people with limb-girdle muscular dystrophy.\n\nWeakening of the heart muscle (cardiomyopathy) occurs in some forms of limb-girdle muscular dystrophy. Some affected individuals experience mild to severe breathing problems related to the weakness of muscles needed for breathing. In some cases, the breathing problems are severe enough that affected individuals need to use a machine to help them breathe (mechanical ventilation).\n\nIntelligence is generally unaffected in limb-girdle muscular dystrophy; however, developmental delay and intellectual disability have been reported in rare forms of the disorder." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=151940
|
||
ConceptID=C0686353
|
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-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Limb-girdle muscular dystrophy<span class="h1sub">(LGMD)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>151940</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.">C0686353</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>LGMD; Muscular Dystrophies, Limb-Girdle</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Muscular dystrophy with predominantly proximal limb girdle distribution (240046001); Limb-girdle muscular dystrophy (240046001)</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 jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Genes (locations):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="DYSF - ID: 8291 - NCBI Gene" href="/gene/8291" class="medgenPMinfo">DYSF</a> (2p13.2); <a target="_blank" title="SGCB - ID: 6443 - NCBI Gene" href="/gene/6443" class="medgenPMinfo">SGCB</a> (4q12); <a target="_blank" title="SGCD - ID: 6444 - NCBI Gene" href="/gene/6444" class="medgenPMinfo">SGCD</a> (5q33.2-33.3)</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/203859">ANO5</a>, <a target="_blank" href="/gene/85366">MYLK2</a>, <a target="_blank" href="/gene/79147">FKRP</a>, <a target="_blank" href="/gene/60684">TRAPPC11</a>, <a target="_blank" href="/gene/55624">POMGNT1</a>, <a target="_blank" href="/gene/23534">TNPO3</a>, <a target="_blank" href="/gene/22954">TRIM32</a>, <a target="_blank" href="/gene/10049">DNAJB6</a>, <a target="_blank" href="/gene/9987">HNRNPDL</a>, <a target="_blank" href="/gene/9499">MYOT</a>, <a target="_blank" href="/gene/8557">TCAP</a>, <a target="_blank" href="/gene/7273">TTN</a>, <a target="_blank" href="/gene/6445">SGCG</a>, <a target="_blank" href="/gene/6442">SGCA</a>, <a target="_blank" href="/gene/5339">PLEC</a>, <a target="_blank" href="/gene/4625">MYH7</a>, <a target="_blank" href="/gene/4624">MYH6</a>, <a target="_blank" href="/gene/4000">LMNA</a>, <a target="_blank" href="/gene/2218">FKTN</a>, <a target="_blank" href="/gene/1674">DES</a>, <a target="_blank" href="/gene/1605">DAG1</a>, <a target="_blank" href="/gene/859">CAV3</a>, <a target="_blank" href="/gene/825">CAPN3</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0006785">HP:0006785</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0016971" target="_blank">MONDO:0016971</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=263">ORPHA263</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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||
<div class="portlet mgSection" id="ID_100">
|
||
<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">Limb-girdle muscular dystrophy is a term for a group of diseases that cause weakness and wasting of the muscles in the arms and legs. The muscles most affected are those closest to the body (proximal muscles), specifically the muscles of the shoulders, upper arms, pelvic area, and thighs.<br /><br />The severity, age of onset, and features of limb-girdle muscle dystrophy vary among the many subtypes of this condition and may be inconsistent even within the same family. Signs and symptoms may first appear at any age and generally worsen with time, although in some cases they remain mild.<br /><br />In the early stages of limb-girdle muscular dystrophy, affected individuals may have an unusual walking gait, such as waddling or walking on the balls of their feet, and may also have difficulty running. They may need to use their arms to press themselves up from a squatting position because of their weak thigh muscles. As the condition progresses, people with limb-girdle muscular dystrophy may eventually require wheelchair assistance.<br /><br />Muscle wasting may cause changes in posture or in the appearance of the shoulder, back, and arm. In particular, weak shoulder muscles tend to make the shoulder blades (scapulae) "stick out" from the back, a sign known as scapular winging. Affected individuals may also have an abnormally curved lower back (lordosis) or a spine that curves to the side (scoliosis). Some develop joint stiffness (contractures) that can restrict movement in their hips, knees, ankles, or elbows. Overgrowth (hypertrophy) of the calf muscles occurs in some people with limb-girdle muscular dystrophy.<br /><br />Weakening of the heart muscle (cardiomyopathy) occurs in some forms of limb-girdle muscular dystrophy. Some affected individuals experience mild to severe breathing problems related to the weakness of muscles needed for breathing. In some cases, the breathing problems are severe enough that affected individuals need to use a machine to help them breathe (mechanical ventilation).<br /><br />Intelligence is generally unaffected in limb-girdle muscular dystrophy; however, developmental delay and intellectual disability have been reported in rare forms of the disorder. [from <a title="MedlinePlus Genetics" href="https://medlineplus.gov/genetics/" class="defSource" target="_blank">MedlinePlus Genetics</a>]</div>
|
||
</div>
|
||
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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><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=C0686353[DISCUI]&test_type=Clinical" ref="ncbi_uid=151940">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=151940" ref="ncbi_uid=151940">V</a></span></span><span class="TLline">Limb-girdle 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=C2931907[DISCUI]&test_type=Clinical" ref="ncbi_uid=419194">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=419194" ref="ncbi_uid=419194">V</a></span></span><span class="TLline"><a href="/medgen/419194" ref="tree=GTR&ncbi_uid=419194&link_uid=419194" title="View MedGen record for 'Autosomal recessive limb-girdle muscular dystrophy'">Autosomal recessive limb-girdle 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=C1869123[DISCUI]&test_type=Clinical" ref="ncbi_uid=358391">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=358391" target="_blank" href="/omim/114240">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1313/" ref="ncbi_uid=358391">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=358391" ref="ncbi_uid=358391">V</a></span></span><span class="TLline"><a href="/medgen/358391" ref="tree=GTR&ncbi_uid=358391&link_uid=358391" title="View MedGen record for 'Autosomal recessive limb-girdle muscular dystrophy type 2A'">Autosomal recessive limb-girdle muscular dystrophy type 2A</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=C1866008[DISCUI]&test_type=Clinical" ref="ncbi_uid=400895">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=400895" target="_blank" href="/omim/601954">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=400895" ref="ncbi_uid=400895">V</a></span></span><span class="TLline"><a href="/medgen/400895" ref="tree=GTR&ncbi_uid=400895&link_uid=400895" title="View MedGen record for 'Autosomal recessive limb-girdle muscular dystrophy type 2G'">Autosomal recessive limb-girdle muscular dystrophy type 2G</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=C1837342[DISCUI]&test_type=Clinical" ref="ncbi_uid=324741">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=324741" target="_blank" href="/omim/188840">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=324741" ref="ncbi_uid=324741">V</a></span></span><span class="TLline"><a href="/medgen/324741" ref="tree=GTR&ncbi_uid=324741&link_uid=324741" title="View MedGen record for 'Autosomal recessive limb-girdle muscular dystrophy type 2J'">Autosomal recessive limb-girdle muscular dystrophy type 2J</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=C1969785[DISCUI]&test_type=Clinical" ref="ncbi_uid=370102">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=370102" target="_blank" href="/omim/608662">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK114459/" ref="ncbi_uid=370102">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=370102" ref="ncbi_uid=370102">V</a></span></span><span class="TLline"><a href="/medgen/370102" ref="tree=GTR&ncbi_uid=370102&link_uid=370102" title="View MedGen record for 'Autosomal recessive limb-girdle muscular dystrophy type 2L'">Autosomal recessive limb-girdle muscular dystrophy type 2L</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=C4511963[DISCUI]&test_type=Clinical" ref="ncbi_uid=1386785">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1386785" target="_blank" href="/omim/128239">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=1386785" ref="ncbi_uid=1386785">V</a></span></span><span class="TLline"><a href="/medgen/1386785" ref="tree=GTR&ncbi_uid=1386785&link_uid=1386785" title="View MedGen record for 'Autosomal recessive limb-girdle muscular dystrophy type 2P'">Autosomal recessive limb-girdle muscular dystrophy type 2P</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=C3150989[DISCUI]&test_type=Clinical" ref="ncbi_uid=462339">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462339" target="_blank" href="/omim/601282">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=462339" ref="ncbi_uid=462339">V</a></span></span><span class="TLline"><a href="/medgen/462339" ref="tree=GTR&ncbi_uid=462339&link_uid=462339" title="View MedGen record for 'Autosomal recessive limb-girdle muscular dystrophy type 2Q'">Autosomal recessive limb-girdle muscular dystrophy type 2Q</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=C4517996[DISCUI]&test_type=Clinical" ref="ncbi_uid=1385598">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1385598" target="_blank" href="/omim/614138">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=1385598" ref="ncbi_uid=1385598">V</a></span></span><span class="TLline"><a href="/medgen/1385598" ref="tree=GTR&ncbi_uid=1385598&link_uid=1385598" title="View MedGen record for 'Autosomal recessive limb-girdle muscular dystrophy type R18'">Autosomal recessive limb-girdle muscular dystrophy type R18</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=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=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><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2931687[DISCUI]&test_type=Clinical" ref="ncbi_uid=419874">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/NBK1303/" ref="ncbi_uid=419874">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=419874" ref="ncbi_uid=419874">V</a></span></span><span class="TLline"><a href="/medgen/419874" ref="tree=GTR&ncbi_uid=419874&link_uid=419874" title="View MedGen record for 'Qualitative or quantitative defects of dysferlin'">Qualitative or quantitative defects of dysferlin</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=C1850889[DISCUI]&test_type=Clinical" ref="ncbi_uid=338149">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=338149" target="_blank" href="/omim/253601">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1303/" ref="ncbi_uid=338149">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=338149" ref="ncbi_uid=338149">V</a></span></span><span class="TLline"><a href="/medgen/338149" ref="tree=GTR&ncbi_uid=338149&link_uid=338149" title="View MedGen record for 'Autosomal recessive limb-girdle muscular dystrophy type 2B'">Autosomal recessive limb-girdle muscular dystrophy type 2B</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=C4551973[DISCUI]&test_type=Clinical" ref="ncbi_uid=1640757">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1640757" target="_blank" href="/omim/254130">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1303/" ref="ncbi_uid=1640757">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1640757" ref="ncbi_uid=1640757">V</a></span></span><span class="TLline"><a href="/medgen/1640757" ref="tree=GTR&ncbi_uid=1640757&link_uid=1640757" title="View MedGen record for 'Miyoshi muscular dystrophy 1'">Miyoshi muscular dystrophy 1</a></span></li></ul></li><li class="TLclosed"><span class="TLline"><a href="/medgen/424705" ref="tree=GTR&ncbi_uid=424705&link_uid=424705" title="View MedGen record for 'Sarcoglycanopathy'">Sarcoglycanopathy</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=C0410173[DISCUI]&test_type=Clinical" ref="ncbi_uid=98045">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=98045" target="_blank" href="/omim/253700">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=98045" ref="ncbi_uid=98045">V</a></span></span><span class="TLline"><a href="/medgen/98045" ref="tree=GTR&ncbi_uid=98045&link_uid=98045" title="View MedGen record for 'Autosomal recessive limb-girdle muscular dystrophy type 2C'">Autosomal recessive limb-girdle muscular dystrophy type 2C</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=C2936332[DISCUI]&test_type=Clinical" ref="ncbi_uid=424706">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=424706" target="_blank" href="/omim/600119">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=424706" ref="ncbi_uid=424706">V</a></span></span><span class="TLline"><a href="/medgen/424706" ref="tree=GTR&ncbi_uid=424706&link_uid=424706" title="View MedGen record for 'Autosomal recessive limb-girdle muscular dystrophy type 2D'">Autosomal recessive limb-girdle muscular dystrophy type 2D</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=C2930900[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=418943">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=418943" ref="ncbi_uid=418943">V</a></span></span><span class="TLline"><a href="/medgen/418943" ref="tree=GTR&ncbi_uid=418943&link_uid=418943" title="View MedGen record for 'Qualitative or quantitative defects of beta-sarcoglycan'">Qualitative or quantitative defects of beta-sarcoglycan</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=C5680806[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=1826098">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=1826098" ref="ncbi_uid=1826098">V</a></span></span><span class="TLline"><a href="/medgen/1826098" ref="tree=GTR&ncbi_uid=1826098&link_uid=1826098" title="View MedGen record for 'Qualitative or quantitative defects of delta-sarcoglycan'">Qualitative or quantitative defects of delta-sarcoglycan</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=C0270968[DISCUI]&test_type=Clinical" ref="ncbi_uid=78750">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=78750" target="_blank" href="/omim/254110">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=78750" ref="ncbi_uid=78750">V</a></span></span><span class="TLline"><a href="/medgen/78750" ref="tree=GTR&ncbi_uid=78750&link_uid=78750" title="View MedGen record for 'Sarcotubular myopathy'">Sarcotubular myopathy</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=C5675009[DISCUI]&test_type=Clinical" ref="ncbi_uid=1826162">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=1826162" ref="ncbi_uid=1826162">V</a></span></span><span class="TLline"><a href="/medgen/1826162" ref="tree=GTR&ncbi_uid=1826162&link_uid=1826162" title="View MedGen record for 'Muscular dystrophy, limb-girdle, autosomal dominant'">Muscular dystrophy, limb-girdle, autosomal dominant</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=C4721885[DISCUI]&test_type=Clinical" ref="ncbi_uid=1648441">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1648441" target="_blank" href="/omim/603511">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=1648441" ref="ncbi_uid=1648441">V</a></span></span><span class="TLline"><a href="/medgen/1648441" ref="tree=GTR&ncbi_uid=1648441&link_uid=1648441" title="View MedGen record for 'Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)'">Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)</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=C1842062[DISCUI]&test_type=Clinical" ref="ncbi_uid=333983">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=333983" target="_blank" href="/omim/608423">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=333983" ref="ncbi_uid=333983">V</a></span></span><span class="TLline"><a href="/medgen/333983" ref="tree=GTR&ncbi_uid=333983&link_uid=333983" title="View MedGen record for 'Autosomal dominant limb-girdle muscular dystrophy type 1F'">Autosomal dominant limb-girdle muscular dystrophy type 1F</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=C1836765[DISCUI]&test_type=Clinical" ref="ncbi_uid=322993">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=322993" target="_blank" href="/omim/607137">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=322993" ref="ncbi_uid=322993">V</a></span></span><span class="TLline"><a href="/medgen/322993" ref="tree=GTR&ncbi_uid=322993&link_uid=322993" title="View MedGen record for 'Autosomal dominant limb-girdle muscular dystrophy type 1G'">Autosomal dominant limb-girdle muscular dystrophy type 1G</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=C3150786[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=462136">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462136" target="_blank" href="/omim/613530">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/462136" ref="tree=GTR&ncbi_uid=462136&link_uid=462136" title="View MedGen record for 'Autosomal dominant limb-girdle muscular dystrophy type 1H'">Autosomal dominant limb-girdle muscular dystrophy type 1H</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=C5679790[DISCUI]&test_type=Clinical" ref="ncbi_uid=1826055">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=1826055" ref="ncbi_uid=1826055">V</a></span></span><span class="TLline"><a href="/medgen/1826055" ref="tree=GTR&ncbi_uid=1826055&link_uid=1826055" title="View MedGen record for 'Caveolinopathy'">Caveolinopathy</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=C0241005[DISCUI]&test_type=Clinical" ref="ncbi_uid=69128">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=69128" target="_blank" href="/omim/123320">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=69128" ref="ncbi_uid=69128">V</a></span></span><span class="TLline"><a href="/medgen/69128" ref="tree=GTR&ncbi_uid=69128&link_uid=69128" title="View MedGen record for 'Elevated circulating creatine kinase concentration'">Elevated circulating creatine kinase concentration</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=C3495498[DISCUI]&test_type=Clinical" ref="ncbi_uid=501195">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=501195" target="_blank" href="/omim/160760">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1768/" ref="ncbi_uid=501195">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=501195" ref="ncbi_uid=501195">V</a></span></span><span class="TLline"><a href="/medgen/501195" ref="tree=GTR&ncbi_uid=501195&link_uid=501195" title="View MedGen record for 'Hypertrophic cardiomyopathy 1'">Hypertrophic cardiomyopathy 1</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=C1832560[DISCUI]&test_type=Clinical" ref="ncbi_uid=371357">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=371357" target="_blank" href="/omim/601253">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=371357" ref="ncbi_uid=371357">V</a></span></span><span class="TLline"><a href="/medgen/371357" ref="tree=GTR&ncbi_uid=371357&link_uid=371357" title="View MedGen record for 'Rippling muscle disease 2'">Rippling muscle disease 2</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=C1832370[DISCUI]&test_type=Clinical" ref="ncbi_uid=330449">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=330449" target="_blank" href="/omim/125660">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1309/" ref="ncbi_uid=330449">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=330449" ref="ncbi_uid=330449">V</a></span></span><span class="TLline"><a href="/medgen/330449" ref="tree=GTR&ncbi_uid=330449&link_uid=330449" title="View MedGen record for 'Desmin-related myofibrillar myopathy'">Desmin-related myofibrillar 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=C0410190[DISCUI]&test_type=Clinical" ref="ncbi_uid=98048">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=98048" target="_blank" href="/omim/150330">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1436/" ref="ncbi_uid=98048">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=98048" ref="ncbi_uid=98048">V</a></span></span><span class="TLline"><a href="/medgen/98048" ref="tree=GTR&ncbi_uid=98048&link_uid=98048" title="View MedGen record for 'Emery-Dreifuss muscular dystrophy 2, autosomal dominant'">Emery-Dreifuss muscular dystrophy 2, autosomal dominant</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=C3714934[DISCUI]&test_type=Clinical" ref="ncbi_uid=811509">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=811509" target="_blank" href="/omim/604103">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=811509" ref="ncbi_uid=811509">V</a></span></span><span class="TLline"><a href="/medgen/811509" ref="tree=GTR&ncbi_uid=811509&link_uid=811509" title="View MedGen record for 'Myofibrillar myopathy 3'">Myofibrillar myopathy 3</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/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/536898" ref="tree=MeSH" title="MedGen record for Abnormality of limbs">Abnormality of limbs</a></span><ul><li><span class="TLline"><a href="/medgen/870150" ref="tree=MeSH" title="MedGen record for Abnormality of the musculature of the limbs">Abnormality of the musculature of the limbs</a></span><ul><li><span class="TLline"><a href="/medgen/330868" ref="tree=MeSH" title="MedGen record for Limb-girdle muscle atrophy">Limb-girdle muscle atrophy</a></span><ul><li><span class="matched_ds">Limb-girdle muscular dystrophy</span><ul><li><span class="TLline"><a href="/medgen/419194" ref="tree=MeSH" title="MedGen record for Autosomal recessive limb-girdle muscular dystrophy">Autosomal recessive limb-girdle muscular dystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/358391" ref="tree=MeSH" title="MedGen record for Autosomal recessive limb-girdle muscular dystrophy type 2A">Autosomal recessive limb-girdle muscular dystrophy type 2A</a></span></li><li><span class="TLline"><a href="/medgen/338149" ref="tree=MeSH" title="MedGen record for Autosomal recessive limb-girdle muscular dystrophy type 2B">Autosomal recessive limb-girdle muscular dystrophy type 2B</a></span></li><li><span class="TLline"><a href="/medgen/98045" ref="tree=MeSH" title="MedGen record for Autosomal recessive limb-girdle muscular dystrophy type 2C">Autosomal recessive limb-girdle muscular dystrophy type 2C</a></span></li><li><span class="TLline"><a href="/medgen/424706" ref="tree=MeSH" title="MedGen record for Autosomal recessive limb-girdle muscular dystrophy type 2D">Autosomal recessive limb-girdle muscular dystrophy type 2D</a></span></li><li><span class="TLline"><a href="/medgen/347674" ref="tree=MeSH" title="MedGen record for Autosomal recessive limb-girdle muscular dystrophy type 2E">Autosomal recessive limb-girdle muscular dystrophy type 2E</a></span></li><li><span class="TLline"><a href="/medgen/331308" ref="tree=MeSH" title="MedGen record for Autosomal recessive limb-girdle muscular dystrophy type 2F">Autosomal recessive limb-girdle muscular dystrophy type 2F</a></span></li><li><span class="TLline"><a href="/medgen/400895" ref="tree=MeSH" title="MedGen record for Autosomal recessive limb-girdle muscular dystrophy type 2G">Autosomal recessive limb-girdle muscular dystrophy type 2G</a></span></li><li><span class="TLline"><a href="/medgen/339580" ref="tree=MeSH" title="MedGen record for Autosomal recessive limb-girdle muscular dystrophy type 2I">Autosomal recessive limb-girdle muscular dystrophy type 2I</a></span></li><li><span class="TLline"><a href="/medgen/324741" ref="tree=MeSH" title="MedGen record for Autosomal recessive limb-girdle muscular dystrophy type 2J">Autosomal recessive limb-girdle muscular dystrophy type 2J</a></span></li><li><span class="TLline"><a href="/medgen/332193" ref="tree=MeSH" title="MedGen record for Autosomal recessive limb-girdle muscular dystrophy type 2K">Autosomal recessive limb-girdle muscular dystrophy type 2K</a></span></li><li><span class="TLline"><a href="/medgen/370102" ref="tree=MeSH" title="MedGen record for Autosomal recessive limb-girdle muscular dystrophy type 2L">Autosomal recessive limb-girdle muscular dystrophy type 2L</a></span></li><li><span class="TLline"><a href="/medgen/370585" ref="tree=MeSH" title="MedGen record for Autosomal recessive limb-girdle muscular dystrophy type 2M">Autosomal recessive limb-girdle muscular dystrophy type 2M</a></span></li><li><span class="TLline"><a href="/medgen/461768" ref="tree=MeSH" title="MedGen record for Autosomal recessive limb-girdle muscular dystrophy type 2N">Autosomal recessive limb-girdle muscular dystrophy type 2N</a></span></li><li><span class="TLline"><a href="/medgen/461767" ref="tree=MeSH" title="MedGen record for Autosomal recessive limb-girdle muscular dystrophy type 2O">Autosomal recessive limb-girdle muscular dystrophy type 2O</a></span></li><li><span class="TLline"><a href="/medgen/1386785" ref="tree=MeSH" title="MedGen record for Autosomal recessive limb-girdle muscular dystrophy type 2P">Autosomal recessive limb-girdle muscular dystrophy type 2P</a></span></li><li><span class="TLline"><a href="/medgen/462339" ref="tree=MeSH" title="MedGen record for Autosomal recessive limb-girdle muscular dystrophy type 2Q">Autosomal recessive limb-girdle muscular dystrophy type 2Q</a></span></li><li><span class="TLline"><a href="/medgen/934627" ref="tree=MeSH" title="MedGen record for Autosomal recessive limb-girdle muscular dystrophy type 2R1">Autosomal recessive limb-girdle muscular dystrophy type 2R1</a></span></li><li><span class="TLline"><a href="/medgen/1377325" ref="tree=MeSH" title="MedGen record for Autosomal recessive limb-girdle muscular dystrophy type 2T">Autosomal recessive limb-girdle muscular dystrophy type 2T</a></span></li><li><span class="TLline"><a href="/medgen/1683417" ref="tree=MeSH" title="MedGen record for Autosomal recessive limb-girdle muscular dystrophy type 2U">Autosomal recessive limb-girdle muscular dystrophy type 2U</a></span></li><li><span class="TLline"><a href="/medgen/897675" ref="tree=MeSH" title="MedGen record for Autosomal recessive limb-girdle muscular dystrophy type 2W">Autosomal recessive limb-girdle muscular dystrophy type 2W</a></span></li><li><span class="TLline"><a href="/medgen/1799561" ref="tree=MeSH" title="MedGen record for Autosomal recessive limb-girdle muscular dystrophy type 2X">Autosomal recessive limb-girdle muscular dystrophy type 2X</a></span></li><li><span class="TLline"><a href="/medgen/1385152" ref="tree=MeSH" title="MedGen record for Autosomal recessive limb-girdle muscular dystrophy type 2Y">Autosomal recessive limb-girdle muscular dystrophy type 2Y</a></span></li><li><span class="TLline"><a href="/medgen/1385598" ref="tree=MeSH" title="MedGen record for Autosomal recessive limb-girdle muscular dystrophy type R18">Autosomal recessive limb-girdle muscular dystrophy type R18</a></span></li><li><span class="TLline"><a href="/medgen/863621" ref="tree=MeSH" title="MedGen record for Limb-girdle muscular dystrophy due to POMK deficiency">Limb-girdle muscular dystrophy due to POMK deficiency</a></span></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/1648462" ref="tree=MeSH" title="MedGen record for Muscular dystrophy, limb-girdle, autosomal recessive 23">Muscular dystrophy, limb-girdle, autosomal recessive 23</a></span></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/335764" ref="tree=MeSH" title="MedGen record for Muscular dystrophy-dystroglycanopathy type B5">Muscular dystrophy-dystroglycanopathy type B5</a></span></li><li><span class="TLline"><a href="/medgen/1830095" ref="tree=MeSH" title="MedGen record for POMGNT2-related limb-girdle muscular dystrophy R24">POMGNT2-related limb-girdle muscular dystrophy R24</a></span></li><li><span class="TLline"><a href="/medgen/419874" ref="tree=MeSH" title="MedGen record for Qualitative or quantitative defects of dysferlin">Qualitative or quantitative defects of dysferlin</a></span><ul><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/335706" ref="tree=MeSH" title="MedGen record for Distal myopathy with anterior tibial onset">Distal myopathy with anterior tibial onset</a></span></li><li><span class="TLline"><a href="/medgen/1640757" ref="tree=MeSH" title="MedGen record for Miyoshi muscular dystrophy 1">Miyoshi muscular dystrophy 1</a></span></li><li><span class="TLline"><a href="/medgen/1790866" ref="tree=MeSH" title="MedGen record for Miyoshi myopathy">Miyoshi myopathy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/424705" ref="tree=MeSH" title="MedGen record for Sarcoglycanopathy">Sarcoglycanopathy</a></span><ul><li><span class="TLline"><a href="/medgen/418943" ref="tree=MeSH" title="MedGen record for Qualitative or quantitative defects of beta-sarcoglycan">Qualitative or quantitative defects of beta-sarcoglycan</a></span></li><li><span class="TLline"><a href="/medgen/1826098" ref="tree=MeSH" title="MedGen record for Qualitative or quantitative defects of delta-sarcoglycan">Qualitative or quantitative defects of delta-sarcoglycan</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/78750" ref="tree=MeSH" title="MedGen record for Sarcotubular myopathy">Sarcotubular myopathy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/371358" ref="tree=MeSH" title="MedGen record for Limb-Girdle Muscular Dystrophy Type 1C">Limb-Girdle Muscular Dystrophy Type 1C</a></span></li><li><span class="TLline"><a href="/medgen/1826162" ref="tree=MeSH" title="MedGen record for Muscular dystrophy, limb-girdle, autosomal dominant">Muscular dystrophy, limb-girdle, autosomal dominant</a></span><ul><li><span class="TLline"><a href="/medgen/1648441" ref="tree=MeSH" title="MedGen record for Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)">Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)</a></span></li><li><span class="TLline"><a href="/medgen/333983" ref="tree=MeSH" title="MedGen record for Autosomal dominant limb-girdle muscular dystrophy type 1F">Autosomal dominant limb-girdle muscular dystrophy type 1F</a></span></li><li><span class="TLline"><a href="/medgen/322993" ref="tree=MeSH" title="MedGen record for Autosomal dominant limb-girdle muscular dystrophy type 1G">Autosomal dominant limb-girdle muscular dystrophy type 1G</a></span></li><li><span class="TLline"><a href="/medgen/462136" ref="tree=MeSH" title="MedGen record for Autosomal dominant limb-girdle muscular dystrophy type 1H">Autosomal dominant limb-girdle muscular dystrophy type 1H</a></span></li><li><span class="TLline"><a href="/medgen/993836" ref="tree=MeSH" title="MedGen record for Calpain-3-related limb-girdle muscular dystrophy D4">Calpain-3-related limb-girdle muscular dystrophy D4</a></span></li><li><span class="TLline"><a href="/medgen/1826055" ref="tree=MeSH" title="MedGen record for Caveolinopathy">Caveolinopathy</a></span><ul><li><span class="TLline"><a href="/medgen/482073" ref="tree=MeSH" title="MedGen record for Distal myopathy, Tateyama type">Distal myopathy, Tateyama type</a></span></li><li><span class="TLline"><a href="/medgen/69128" ref="tree=MeSH" title="MedGen record for Elevated circulating creatine kinase concentration">Elevated circulating creatine kinase concentration</a></span></li><li><span class="TLline"><a href="/medgen/501195" ref="tree=MeSH" title="MedGen record for Hypertrophic cardiomyopathy 1">Hypertrophic cardiomyopathy 1</a></span></li><li><span class="TLline"><a href="/medgen/979140" ref="tree=MeSH" title="MedGen record for Inherited rippling muscle disease">Inherited rippling muscle disease</a></span></li><li><span class="TLline"><a href="/medgen/1668524" ref="tree=MeSH" title="MedGen record for Isolated asymptomatic elevation of creatine phosphokinase">Isolated asymptomatic elevation of creatine phosphokinase</a></span></li><li><span class="TLline"><a href="/medgen/371357" ref="tree=MeSH" title="MedGen record for Rippling muscle disease 2">Rippling muscle disease 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/330449" ref="tree=MeSH" title="MedGen record for Desmin-related myofibrillar myopathy">Desmin-related myofibrillar myopathy</a></span></li><li><span class="TLline"><a href="/medgen/98048" ref="tree=MeSH" title="MedGen record for Emery-Dreifuss muscular dystrophy 2, autosomal dominant">Emery-Dreifuss muscular dystrophy 2, autosomal dominant</a></span></li><li><span class="TLline"><a href="/medgen/811509" ref="tree=MeSH" title="MedGen record for Myofibrillar myopathy 3">Myofibrillar myopathy 3</a></span></li></ul></li></ul></li></ul></li></ul></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=8734&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Limb-girdle muscular dystrophy</span> in Orphanet.</div></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="divPopper rprt" id="rdis_98048"><div><strong>Emery-Dreifuss muscular dystrophy 2, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98048</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.">C0410190</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Emery-Dreifuss muscular dystrophy (EDMD) is characterized by the clinical triad of: joint contractures that begin in early childhood; slowly progressive muscle weakness and wasting initially in a humero-peroneal distribution that later extends to the scapular and pelvic girdle muscles; and cardiac involvement that may manifest as palpitations, presyncope and syncope, poor exercise tolerance, and congestive heart failure along with variable cardiac rhythm disturbances. Age of onset, severity, and progression of muscle and cardiac involvement demonstrate both inter- and intrafamilial variability. Clinical variability ranges from early onset with severe presentation in childhood to late onset with slow progression in adulthood. In general, joint contractures appear during the first two decades, followed by muscle weakness and wasting. Cardiac involvement usually occurs after the second decade and respiratory function may be impaired in some individuals.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/98048">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_322993"><div><strong>Autosomal dominant limb-girdle muscular dystrophy type 1G</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322993</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.">C1836765</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Autosomal dominant limb-girdle muscular dystrophy-3 (LGMDD3) is characterized by slowly progressive proximal muscle weakness affecting the upper and lower limbs. Onset is usually in adulthood, but can occur during the teenage years. Affected individuals may also develop cataracts before age 50 (summary by Vieira et al., 2014). For a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant limb-girdle muscular dystrophy, see LGMDD1 (603511).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/322993">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_326552"><div><strong>Muscular dystrophy, Hemizygous lethal type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326552</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.">C1839671</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/326552">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_414534"><div><strong>DPM3-congenital disorder of glycosylation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>414534</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.">C2752007</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Limb-girdle muscular dystrophy-dystroglycanopathy type C15 (MDDGC15) is an autosomal recessive disorder characterized by progressive proximal muscle weakness, manifest initially as unsteady gait, but later including more distal muscles, and dilated cardiomyopathy. The age at onset varies widely from the first decade to adulthood; those with earlier onset may have delayed motor development. Laboratory studies show increased serum creatine kinase and muscle biopsy shows dystrophic features with decreased alpha-dystroglycan (DAG1; 128239). Biochemical studies often show evidence of abnormal N-glycosylation of serum proteins, consistent with a congenital disorder of glycosylation (CDG) (summary by Svahn et al., 2019). For a discussion of genetic heterogeneity of muscular dystrophy- dystroglycanopathy type C, see MDDGC1 (609308). For a discussion of the classification of CDGs, see CDG1A (212065).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/414534">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_424706"><div><strong>Autosomal recessive limb-girdle muscular dystrophy type 2D</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>424706</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.">C2936332</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive limb-girdle muscular dystrophy-3 (LGMDR3) affects mainly the proximal muscles and results in difficulty walking. Most individuals have onset in childhood; the disorder is progressive. Other features may include scapular winging, calf pseudohypertrophy, and contractures. Cardiomyopathy has rarely been reported (summary by Babameto-Laku et al., 2011). For a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 (253600).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/424706">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_815799"><div><strong>Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815799</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.">C3809469</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inclusion body myopathy associated with Paget disease of bone (PDB) and/or frontotemporal dementia (IBMPFD) is characterized by adult-onset proximal and distal muscle weakness (clinically resembling a limb-girdle muscular dystrophy syndrome), early-onset PDB, and premature frontotemporal dementia (FTD). Muscle weakness progresses to involve other limb and respiratory muscles. PDB involves focal areas of increased bone turnover that typically lead to spine and/or hip pain and localized enlargement and deformity of the long bones; pathologic fractures occur on occasion. Early stages of FTD are characterized by dysnomia, dyscalculia, comprehension deficits, and paraphasic errors, with minimal impairment of episodic memory; later stages are characterized by inability to speak, auditory comprehension deficits for even one-step commands, alexia, and agraphia. Mean age at diagnosis for muscle disease and PDB is 42 years; for FTD, 56 years. Dilated cardiomyopathy, amyotrophic lateral sclerosis, and Parkinson disease are now known to be part of the spectrum of findings associated with IBMPFD.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/815799">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934627"><div><strong>Autosomal recessive limb-girdle muscular dystrophy type 2R1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934627</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.">C4310660</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive limb-girdle muscular dystrophy-21 (LGMDR21) is characterized by progressive limb-girdle weakness with age of onset ranging from congenital to adult. Muscle imaging shows a specific and selective pattern of fatty muscle degeneration (summary by Servian-Morilla et al., 2020). For a discussion of genetic heterogeneity of autosomal recessive LGMD, see LGMDR1 (253600).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934627">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1385598"><div><strong>Autosomal recessive limb-girdle muscular dystrophy type R18</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1385598</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.">C4517996</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive limb-girdle muscular dystrophy-18 (LGMDR18) is characterized by childhood-onset of proximal muscle weakness resulting in gait abnormalities and scapular winging. Serum creatine kinase is increased. A subset of patients may show a hyperkinetic movement disorder with chorea, ataxia, or dystonia and global developmental delay (summary by Bogershausen et al., 2013). Additional more variable features include alacrima, achalasia, cataracts, or hepatic steatosis (Liang et al., 2015; Koehler et al., 2017). For a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 (253600).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1385598">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1683417"><div><strong>Autosomal recessive limb-girdle muscular dystrophy type 2U</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1683417</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.">C5190987</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare subtype of autosomal recessive limb-girdle muscular dystrophy disorder with characteristics of infantile to childhood-onset of slowly progressive, principally proximal shoulder and/or pelvic-girdle muscular weakness that typically presents with positive Gowers'' sign and is associated with elevated creatine kinase levels, hyporeflexia, joint and achilles tendon contractures and muscle hypertrophy usually of the thighs, calves and/or tongue. Other highly variable features include cerebellar, cardiac and ocular abnormalities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1683417">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_322993" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant limb-girdle muscular dystrophy type 1G</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_424706" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive limb-girdle muscular dystrophy type 2D</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934627" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive limb-girdle muscular dystrophy type 2R1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1683417" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive limb-girdle muscular dystrophy type 2U</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1385598" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive limb-girdle muscular dystrophy type R18</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (9)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_414534" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">DPM3-congenital disorder of glycosylation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98048" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Emery-Dreifuss muscular dystrophy 2, autosomal dominant</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815799" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_326552" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy, Hemizygous lethal type</a></div></span></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/35500790">2022 HRS expert consensus statement on evaluation and management of arrhythmic risk in neuromuscular disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Groh WJ,
|
||
Bhakta D,
|
||
Tomaselli GF,
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||
Aleong RG,
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||
Teixeira RA,
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Amato A,
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Asirvatham SJ,
|
||
Cha YM,
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||
Corrado D,
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||
Duboc D,
|
||
Goldberger ZD,
|
||
Horie M,
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Hornyak JE,
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Jefferies JL,
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||
Kääb S,
|
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Kalman JM,
|
||
Kertesz NJ,
|
||
Lakdawala NK,
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||
Lambiase PD,
|
||
Lubitz SA,
|
||
McMillan HJ,
|
||
McNally EM,
|
||
Milone M,
|
||
Namboodiri N,
|
||
Nazarian S,
|
||
Patton KK,
|
||
Russo V,
|
||
Sacher F,
|
||
Santangeli P,
|
||
Shen WK,
|
||
Sobral Filho DC,
|
||
Stambler BS,
|
||
Stöllberger C,
|
||
Wahbi K,
|
||
Wehrens XHT,
|
||
Weiner MM,
|
||
Wheeler MT,
|
||
Zeppenfeld K</span><br />
|
||
<span class="medgenPMjournal">Heart Rhythm</span>
|
||
2022 Oct;19(10):e61-e120.
|
||
Epub 2022 Apr 29
|
||
doi: 10.1016/j.hrthm.2022.04.022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35500790" target="_blank">35500790</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30019308">The Limb-Girdle Muscular Dystrophies: Is Treatment on the Horizon?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chu ML,
|
||
Moran E</span><br />
|
||
<span class="medgenPMjournal">Neurotherapeutics</span>
|
||
2018 Oct;15(4):849-862.
|
||
doi: 10.1007/s13311-018-0648-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30019308" target="_blank">30019308</a><a href="/pmc/articles/PMC6277288" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15689361">LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sáenz A,
|
||
Leturcq F,
|
||
Cobo AM,
|
||
Poza JJ,
|
||
Ferrer X,
|
||
Otaegui D,
|
||
Camaño P,
|
||
Urtasun M,
|
||
Vílchez J,
|
||
Gutiérrez-Rivas E,
|
||
Emparanza J,
|
||
Merlini L,
|
||
Paisán C,
|
||
Goicoechea M,
|
||
Blázquez L,
|
||
Eymard B,
|
||
Lochmuller H,
|
||
Walter M,
|
||
Bonnemann C,
|
||
Figarella-Branger D,
|
||
Kaplan JC,
|
||
Urtizberea JA,
|
||
Martí-Massó JF,
|
||
López de Munain A</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2005 Apr;128(Pt 4):732-42.
|
||
Epub 2005 Feb 2
|
||
doi: 10.1093/brain/awh408.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15689361" target="_blank">15689361</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22limb-girdle%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 (43)</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/34572129">Muscle-Related Plectinopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zrelski MM,
|
||
Kustermann M,
|
||
Winter L</span><br />
|
||
<span class="medgenPMjournal">Cells</span>
|
||
2021 Sep 19;10(9)
|
||
doi: 10.3390/cells10092480.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34572129" target="_blank">34572129</a><a href="/pmc/articles/PMC8466646" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31487757">Respiratory muscle training in children and adults with neuromuscular disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Silva IS,
|
||
Pedrosa R,
|
||
Azevedo IG,
|
||
Forbes AM,
|
||
Fregonezi GA,
|
||
Dourado Junior ME,
|
||
Lima SR,
|
||
Ferreira GM</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2019 Sep 5;9(9):CD011711.
|
||
doi: 10.1002/14651858.CD011711.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31487757" target="_blank">31487757</a><a href="/pmc/articles/PMC6953358" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30019308">The Limb-Girdle Muscular Dystrophies: Is Treatment on the Horizon?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chu ML,
|
||
Moran E</span><br />
|
||
<span class="medgenPMjournal">Neurotherapeutics</span>
|
||
2018 Oct;15(4):849-862.
|
||
doi: 10.1007/s13311-018-0648-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30019308" target="_blank">30019308</a><a href="/pmc/articles/PMC6277288" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29480216">Anti-HMGCR Myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mohassel P,
|
||
Mammen AL</span><br />
|
||
<span class="medgenPMjournal">J Neuromuscul Dis</span>
|
||
2018;5(1):11-20.
|
||
doi: 10.3233/JND-170282.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29480216" target="_blank">29480216</a><a href="/pmc/articles/PMC5836404" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16092631">Limb-girdle muscular dystrophy in childhood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bönnemann CG</span><br />
|
||
<span class="medgenPMjournal">Pediatr Ann</span>
|
||
2005 Jul;34(7):569-77.
|
||
doi: 10.3928/0090-4481-20050701-14.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16092631" target="_blank">16092631</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Limb-girdle%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 (511)</a></div><h3 class="subhead">Diagnosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/31487757">Respiratory muscle training in children and adults with neuromuscular disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Silva IS,
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Pedrosa R,
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<div class="nl"><a target="_blank" href="/pubmed/30019308">The Limb-Girdle Muscular Dystrophies: Is Treatment on the Horizon?</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/29480216">Anti-HMGCR Myopathy.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/29480216" target="_blank">29480216</a><a href="/pmc/articles/PMC5836404" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Limb-girdle%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 (118)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37929714">Prognostic Utility of Cardiovascular Magnetic Resonance-Based Phenotyping in Patients With Muscular Dystrophy.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31487757">Respiratory muscle training in children and adults with neuromuscular disease.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/37929714">Prognostic Utility of Cardiovascular Magnetic Resonance-Based Phenotyping in Patients With Muscular Dystrophy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kashyap N,
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Nikhanj A,
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Labib D,
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Prosia E,
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Rivest S,
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Flewitt J,
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Pfeffer G,
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Siddiqi ZA,
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Coulden RA,
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Thompson R,
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White JA,
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Oudit GY</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/37929714" target="_blank">37929714</a><a href="/pmc/articles/PMC10727409" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/37247532">Pain interference and fatigue in limb-girdle muscular dystrophy R9.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Reelfs AM,
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Stephan CM,
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|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/31487757">Respiratory muscle training in children and adults with neuromuscular disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Silva IS,
|
||
Pedrosa R,
|
||
Azevedo IG,
|
||
Forbes AM,
|
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Fregonezi GA,
|
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Dourado Junior ME,
|
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Lima SR,
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Ferreira GM</span><br />
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<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
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2019 Sep 5;9(9):CD011711.
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doi: 10.1002/14651858.CD011711.pub2.
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<span class="bold">PMID: </span><a href="/pubmed/31487757" target="_blank">31487757</a><a href="/pmc/articles/PMC6953358" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16092631">Limb-girdle muscular dystrophy in childhood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bönnemann CG</span><br />
|
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<span class="medgenPMjournal">Pediatr Ann</span>
|
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2005 Jul;34(7):569-77.
|
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doi: 10.3928/0090-4481-20050701-14.
|
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<span class="bold">PMID: </span><a href="/pubmed/16092631" target="_blank">16092631</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Limb-girdle%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 (404)</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_104">
|
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<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>
|
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<div class="portlet_content ln">
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<div class="nl"><a target="_blank" href="/pubmed/38124127">Effectiveness of conservative non-pharmacological interventions in people with muscular dystrophies: a systematic review and meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Leone E,
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Pandyan A,
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Rogers A,
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Kulshrestha R,
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Hill J,
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Philp F</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/38124127" target="_blank">38124127</a><a href="/pmc/articles/PMC11041561" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/37962193">Patterns of Clinical Progression Among Patients With Autosomal Recessive Limb-Girdle Muscular Dystrophy: A Systematic Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Cheung A,
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Audhya IF,
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Szabo SM,
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Friesen M,
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Weihl CC,
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Gooch KL</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/37962193" target="_blank">37962193</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/34325301">Epilepsy in LAMA2-related muscular dystrophy: A systematic review of the literature.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Salvati A,
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<span class="bold">PMID: </span><a href="/pubmed/34325301" target="_blank">34325301</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31487757">Respiratory muscle training in children and adults with neuromuscular disease.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Silva IS,
|
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Pedrosa R,
|
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Azevedo IG,
|
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Forbes AM,
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Fregonezi GA,
|
||
Dourado Junior ME,
|
||
Lima SR,
|
||
Ferreira GM</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2019 Sep 5;9(9):CD011711.
|
||
doi: 10.1002/14651858.CD011711.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31487757" target="_blank">31487757</a><a href="/pmc/articles/PMC6953358" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26786644">A Systematic Review and Meta-analysis on the Epidemiology of the Muscular Dystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mah JK,
|
||
Korngut L,
|
||
Fiest KM,
|
||
Dykeman J,
|
||
Day LJ,
|
||
Pringsheim T,
|
||
Jette N</span><br />
|
||
<span class="medgenPMjournal">Can J Neurol Sci</span>
|
||
2016 Jan;43(1):163-77.
|
||
doi: 10.1017/cjn.2015.311.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26786644" target="_blank">26786644</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Limb-girdle%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 (9)</a></div></div>
|
||
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|
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|
||
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|
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|
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|
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<div class="supplemental col three_col last">
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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|
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0686353%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (29)</a></li>
|
||
<li><a href="/gtr/tests?term=C0686353%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0686353%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0686353%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (39)</a></li>
|
||
<li><a href="/gtr/tests?term=C0686353%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0686353%5bDISCUI%5d" target="_blank">See all (41)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=263" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Limb-girdle%20muscular%20dystrophy" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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