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<meta name="keywords" content="C0410173, adhalin deficiency, secondary, autosomal recessive duchenne-like muscular dystrophy type 1, autosomal recessive limb-girdle muscular dystrophy caused by mutation in sgcg, autosomal recessive limb-girdle muscular dystrophy type 2c, deficiency of sarcoglycan gamma, disease or syndrome, dmda, dmda1, duchenne-like muscular dystrophy, autosomal recessive, type 1, gamma-sarcoglycan-related lgmd r5, gamma-sarcoglycan-related limb-girdle muscular dystrophy r5, gamma-sarcoglycanopathy, lgmd due to gamma-sarcoglycan deficiency, lgmd type 2c, lgmd2c, lgmdr5, limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency, limb-girdle muscular dystrophy type 2c, limb-girdle muscular dystrophy with gamma-sarcoglycan deficiency, limb-girdle muscular dystrophy, type 2c, maghrebian myopathy, muscular dystrophy, duchenne-like, muscular dystrophy, limb-girdle, autosomal recessive 5, muscular dystrophy, limb-girdle, type 2c, sarcoglycan, gamma, deficiency of, scarmd, severe childhood autosomal recessive muscular dystrophy north african type, severe childhood autosomal recessive muscular dystrophy, north african type, sgcg, sgcg autosomal recessive limb-girdle muscular dystrophy, 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="A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=98045
|
||
ConceptID=C0410173
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Autosomal recessive limb-girdle muscular dystrophy type 2C<span class="h1sub">(LGMDR5)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98045</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.">C0410173</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>Adhalin deficiency, secondary; Duchenne-like muscular dystrophy, autosomal recessive, type 1; Gamma-Sarcoglycanopathy; LGMDR5; Limb-girdle muscular dystrophy with gamma-sarcoglycan deficiency; Limb-girdle muscular dystrophy, type 2C; Maghrebian myopathy; MUSCULAR DYSTROPHY, DUCHENNE-LIKE; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5; Severe childhood autosomal recessive muscular dystrophy, North African type</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="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></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="SGCG - ID: 6445 - NCBI Gene" href="/gene/6445" class="medgenPMinfo">SGCG</a> (13q12.12)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0009677" target="_blank">MONDO:0009677</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/253700" target="_blank">253700</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=353">ORPHA353</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">A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported. [from <a title="Orphanet Rare Disease Ontology (ORDO)" href="http://www.orphadata.org/cgi-bin/inc/ordo_orphanet.inc.php" class="defSource" target="_blank">ORDO</a>]</div>
|
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</div>
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||
|
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<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_374276"><div><strong>Calf muscle pseudohypertrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374276</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.">C1839666</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Enlargement of the muscles of the calf due to their replacement by connective tissue or fat.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/374276">Feature record</a> | <a href="/medgen?term=%22Calf%20muscle%20pseudohypertrophy%22%5BClinical%20Features%5D%20OR%20374276%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57981"><div><strong>Right ventricular hypertrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57981</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.">C0162770</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57981">Feature record</a> | <a href="/medgen?term=%22Right%20ventricular%20hypertrophy%22%5BClinical%20Features%5D%20OR%2057981%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_138012"><div><strong>Right ventricular dilatation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>138012</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.">C0344893</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Enlargement of the chamber of the right ventricle, which can be defined echocardiographically as a right ventricular to left ventricular ratio greater than 1:1.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/138012">Feature record</a> | <a href="/medgen?term=%22Right%20ventricular%20dilatation%22%5BClinical%20Features%5D%20OR%20138012%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_332305"><div><strong>Loss of ambulation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332305</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.">C1836843</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inability to walk in a person who previous had the ability to walk.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332305">Feature record</a> | <a href="/medgen?term=%22Loss%20of%20ambulation%22%5BClinical%20Features%5D%20OR%20332305%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9805"><div><strong>Hyperlordosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9805</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.">C0024003</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9805">Feature record</a> | <a href="/medgen?term=%22Hyperlordosis%22%5BClinical%20Features%5D%20OR%209805%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_44527"><div><strong>Muscular dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44527</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.">C0026850</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/44527">Feature record</a> | <a href="/medgen?term=%22Muscular%20dystrophy%22%5BClinical%20Features%5D%20OR%2044527%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11348"><div><strong>Scoliosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11348</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.">C0036439</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of an abnormal lateral curvature of the spine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11348">Feature record</a> | <a href="/medgen?term=%22Scoliosis%22%5BClinical%20Features%5D%20OR%2011348%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65865"><div><strong>Gowers sign</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65865</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.">C0234182</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65865">Feature record</a> | <a href="/medgen?term=%22Gowers%20sign%22%5BClinical%20Features%5D%20OR%2065865%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_83069"><div><strong>Flexion contracture</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83069</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.">C0333068</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/83069">Feature record</a> | <a href="/medgen?term=%22Flexion%20contracture%22%5BClinical%20Features%5D%20OR%2083069%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892680"><div><strong>Muscular atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892680</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.">C0541794</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of skeletal muscular atrophy (which is also known as amyotrophy).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892680">Feature record</a> | <a href="/medgen?term=%22Muscular%20atrophy%22%5BClinical%20Features%5D%20OR%20892680%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_322813"><div><strong>Muscle fiber splitting</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322813</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.">C1836057</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/322813">Feature record</a> | <a href="/medgen?term=%22Muscle%20fiber%20splitting%22%5BClinical%20Features%5D%20OR%20322813%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_336019"><div><strong>Increased variability in muscle fiber diameter</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336019</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.">C1843700</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336019">Feature record</a> | <a href="/medgen?term=%22Increased%20variability%20in%20muscle%20fiber%20diameter%22%5BClinical%20Features%5D%20OR%20336019%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_376893"><div><strong>Muscle fiber necrosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376893</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.">C1850848</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal cell death involving muscle fibers usually associated with break in, or absence of, muscle surface fiber membrane and resulting in irreversible damage to muscle fibers.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/376893">Feature record</a> | <a href="/medgen?term=%22Muscle%20fiber%20necrosis%22%5BClinical%20Features%5D%20OR%20376893%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_344274"><div><strong>Type 1 muscle fiber predominance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344274</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.">C1854387</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/344274">Feature record</a> | <a href="/medgen?term=%22Type%201%20muscle%20fiber%20predominance%22%5BClinical%20Features%5D%20OR%20344274%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_867771"><div><strong>Increased endomysial connective tissue</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867771</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.">C4022161</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased volume of the endomysium, which is a connective tissue sheath that surrounds each muscle fiber. Together, bundles of muscle fibers form a fasciculus, surrounded by another layer of connective tissue called the perimysium.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867771">Feature record</a> | <a href="/medgen?term=%22Increased%20endomysial%20connective%20tissue%22%5BClinical%20Features%5D%20OR%20867771%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_478856"><div><strong>Restrictive ventilatory defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>478856</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.">C3277226</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/478856">Feature record</a> | <a href="/medgen?term=%22Restrictive%20ventilatory%20defect%22%5BClinical%20Features%5D%20OR%20478856%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10813"><div><strong>Pneumonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10813</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.">C0032285</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inflammation of any part of the lung parenchyma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10813">Feature record</a> | <a href="/medgen?term=%22Pneumonia%22%5BClinical%20Features%5D%20OR%2010813%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_69128"><div><strong>Elevated circulating creatine kinase concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>69128</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0241005</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/69128">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20creatine%20kinase%20concentration%22%5BClinical%20Features%5D%20OR%2069128%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_374276" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Calf muscle pseudohypertrophy</a></span></li></ul></li><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_69128" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating creatine kinase concentration</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_138012" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Right ventricular dilatation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57981" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Right ventricular hypertrophy</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10813" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pneumonia</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_83069" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Flexion contracture</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65865" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gowers sign</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9805" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperlordosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867771" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased endomysial connective tissue</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_336019" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased variability in muscle fiber diameter</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_376893" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscle fiber necrosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_322813" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscle fiber splitting</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892680" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_44527" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11348" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Scoliosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_344274" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Type 1 muscle fiber predominance</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_332305" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Loss of ambulation</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_478856" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Restrictive ventilatory defect</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><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"><a href="/medgen/151940" ref="tree=GTR&ncbi_uid=151940&link_uid=151940" title="View MedGen record for 'Limb-girdle muscular dystrophy'">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=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="matched_ds"><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">Autosomal recessive limb-girdle muscular dystrophy type 2C</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="TLline"><a href="/medgen/151940" ref="tree=MeSH" title="MedGen record for Limb-girdle muscular dystrophy">Limb-girdle muscular dystrophy</a></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="matched_ds">Autosomal recessive limb-girdle muscular dystrophy type 2C</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=8716&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Autosomal recessive limb-girdle muscular dystrophy type 2C</span> in Orphanet.</div></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/27120200">Natural History of Cardiac and Respiratory Involvement, Prognosis and Predictive Factors for Long-Term Survival in Adult Patients with Limb Girdle Muscular Dystrophies Type 2C and 2D.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fayssoil A,
|
||
Ogna A,
|
||
Chaffaut C,
|
||
Chevret S,
|
||
Guimarães-Costa R,
|
||
Leturcq F,
|
||
Wahbi K,
|
||
Prigent H,
|
||
Lofaso F,
|
||
Nardi O,
|
||
Clair B,
|
||
Behin A,
|
||
Stojkovic T,
|
||
Laforet P,
|
||
Orlikowski D,
|
||
Annane D</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2016;11(4):e0153095.
|
||
Epub 2016 Apr 27
|
||
doi: 10.1371/journal.pone.0153095.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27120200" target="_blank">27120200</a><a href="/pmc/articles/PMC4847860" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22240777">A phase I trial of adeno-associated virus serotype 1-γ-sarcoglycan gene therapy for limb girdle muscular dystrophy type 2C.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Herson S,
|
||
Hentati F,
|
||
Rigolet A,
|
||
Behin A,
|
||
Romero NB,
|
||
Leturcq F,
|
||
Laforêt P,
|
||
Maisonobe T,
|
||
Amouri R,
|
||
Haddad H,
|
||
Audit M,
|
||
Montus M,
|
||
Masurier C,
|
||
Gjata B,
|
||
Georger C,
|
||
Cheraï M,
|
||
Carlier P,
|
||
Hogrel JY,
|
||
Herson A,
|
||
Allenbach Y,
|
||
Lemoine FM,
|
||
Klatzmann D,
|
||
Sweeney HL,
|
||
Mulligan RC,
|
||
Eymard B,
|
||
Caizergues D,
|
||
Voït T,
|
||
Benveniste O</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2012 Feb;135(Pt 2):483-92.
|
||
Epub 2012 Jan 11
|
||
doi: 10.1093/brain/awr342.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22240777" target="_blank">22240777</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12966699">Neuromuscular disorders in the Gypsy ethnic group. A short review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Navarro C,
|
||
Teijeira S</span><br />
|
||
<span class="medgenPMjournal">Acta Myol</span>
|
||
2003 May;22(1):11-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12966699" target="_blank">12966699</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10993494">Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ginjaar HB,
|
||
van der Kooi AJ,
|
||
Ceelie H,
|
||
Kneppers AL,
|
||
van Meegen M,
|
||
Barth PG,
|
||
Busch HF,
|
||
Wokke JH,
|
||
Anderson LV,
|
||
Bönnemann CG,
|
||
Jeanpierre M,
|
||
Bolhuis PA,
|
||
Moorman AF,
|
||
de Visser M,
|
||
Bakker E,
|
||
Ommen GJ</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2000 Jul;247(7):524-9.
|
||
doi: 10.1007/s004150070151.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10993494" target="_blank">10993494</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8900232">Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McNally EM,
|
||
Passos-Bueno MR,
|
||
Bönnemann CG,
|
||
Vainzof M,
|
||
de Sá Moreira E,
|
||
Lidov HG,
|
||
Othmane KB,
|
||
Denton PH,
|
||
Vance JM,
|
||
Zatz M,
|
||
Kunkel LM</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
1996 Nov;59(5):1040-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8900232" target="_blank">8900232</a><a href="/pmc/articles/PMC1914841" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20recessive%20limb-girdle%20muscular%20dystrophy%20type%202C%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 (11)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36916508">Three siblings with variable degrees of neuromuscular involvement and congenital sideroblastic anemia: A peculiar phenotype and a surprise genotypic explanation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Salam MAE,
|
||
Salama K,
|
||
Selim YMM,
|
||
Saad M,
|
||
Rady R,
|
||
Alawbathani S,
|
||
Schroeder S,
|
||
Elmonem MA,
|
||
Elkhateeb N</span><br />
|
||
<span class="medgenPMjournal">Ann Hum Genet</span>
|
||
2023 Jul;87(4):166-173.
|
||
Epub 2023 Mar 14
|
||
doi: 10.1111/ahg.12505.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36916508" target="_blank">36916508</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34404573">Sarcoglycanopathies: an update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vainzof M,
|
||
Souza LS,
|
||
Gurgel-Giannetti J,
|
||
Zatz M</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2021 Oct;31(10):1021-1027.
|
||
Epub 2021 Jul 28
|
||
doi: 10.1016/j.nmd.2021.07.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34404573" target="_blank">34404573</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30764848">Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xie Z,
|
||
Hou Y,
|
||
Yu M,
|
||
Liu Y,
|
||
Fan Y,
|
||
Zhang W,
|
||
Wang Z,
|
||
Xiong H,
|
||
Yuan Y</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2019 Feb 14;14(1):43.
|
||
doi: 10.1186/s13023-019-1021-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30764848" target="_blank">30764848</a><a href="/pmc/articles/PMC6376703" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20350330">Low incidence of limb-girdle muscular dystrophy type 2C revealed by a mutation study in Japanese patients clinically diagnosed with DMD.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Okizuka Y,
|
||
Takeshima Y,
|
||
Itoh K,
|
||
Zhang Z,
|
||
Awano H,
|
||
Maruyama K,
|
||
Kumagai T,
|
||
Yagi M,
|
||
Matsuo M</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genet</span>
|
||
2010 Mar 30;11:49.
|
||
doi: 10.1186/1471-2350-11-49.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20350330" target="_blank">20350330</a><a href="/pmc/articles/PMC2861025" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11665864">Dysferlin protein analysis in limb-girdle muscular dystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vainzof M,
|
||
Anderson LV,
|
||
McNally EM,
|
||
Davis DB,
|
||
Faulkner G,
|
||
Valle G,
|
||
Moreira ES,
|
||
Pavanello RC,
|
||
Passos-Bueno MR,
|
||
Zatz M</span><br />
|
||
<span class="medgenPMjournal">J Mol Neurosci</span>
|
||
2001 Aug;17(1):71-80.
|
||
doi: 10.1385/JMN:17:1:71.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11665864" target="_blank">11665864</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20recessive%20limb-girdle%20muscular%20dystrophy%20type%202C%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (11)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36916508">Three siblings with variable degrees of neuromuscular involvement and congenital sideroblastic anemia: A peculiar phenotype and a surprise genotypic explanation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Salam MAE,
|
||
Salama K,
|
||
Selim YMM,
|
||
Saad M,
|
||
Rady R,
|
||
Alawbathani S,
|
||
Schroeder S,
|
||
Elmonem MA,
|
||
Elkhateeb N</span><br />
|
||
<span class="medgenPMjournal">Ann Hum Genet</span>
|
||
2023 Jul;87(4):166-173.
|
||
Epub 2023 Mar 14
|
||
doi: 10.1111/ahg.12505.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36916508" target="_blank">36916508</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27120200">Natural History of Cardiac and Respiratory Involvement, Prognosis and Predictive Factors for Long-Term Survival in Adult Patients with Limb Girdle Muscular Dystrophies Type 2C and 2D.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fayssoil A,
|
||
Ogna A,
|
||
Chaffaut C,
|
||
Chevret S,
|
||
Guimarães-Costa R,
|
||
Leturcq F,
|
||
Wahbi K,
|
||
Prigent H,
|
||
Lofaso F,
|
||
Nardi O,
|
||
Clair B,
|
||
Behin A,
|
||
Stojkovic T,
|
||
Laforet P,
|
||
Orlikowski D,
|
||
Annane D</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2016;11(4):e0153095.
|
||
Epub 2016 Apr 27
|
||
doi: 10.1371/journal.pone.0153095.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27120200" target="_blank">27120200</a><a href="/pmc/articles/PMC4847860" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22240777">A phase I trial of adeno-associated virus serotype 1-γ-sarcoglycan gene therapy for limb girdle muscular dystrophy type 2C.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Herson S,
|
||
Hentati F,
|
||
Rigolet A,
|
||
Behin A,
|
||
Romero NB,
|
||
Leturcq F,
|
||
Laforêt P,
|
||
Maisonobe T,
|
||
Amouri R,
|
||
Haddad H,
|
||
Audit M,
|
||
Montus M,
|
||
Masurier C,
|
||
Gjata B,
|
||
Georger C,
|
||
Cheraï M,
|
||
Carlier P,
|
||
Hogrel JY,
|
||
Herson A,
|
||
Allenbach Y,
|
||
Lemoine FM,
|
||
Klatzmann D,
|
||
Sweeney HL,
|
||
Mulligan RC,
|
||
Eymard B,
|
||
Caizergues D,
|
||
Voït T,
|
||
Benveniste O</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2012 Feb;135(Pt 2):483-92.
|
||
Epub 2012 Jan 11
|
||
doi: 10.1093/brain/awr342.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22240777" target="_blank">22240777</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20recessive%20limb-girdle%20muscular%20dystrophy%20type%202C%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30764848">Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xie Z,
|
||
Hou Y,
|
||
Yu M,
|
||
Liu Y,
|
||
Fan Y,
|
||
Zhang W,
|
||
Wang Z,
|
||
Xiong H,
|
||
Yuan Y</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2019 Feb 14;14(1):43.
|
||
doi: 10.1186/s13023-019-1021-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30764848" target="_blank">30764848</a><a href="/pmc/articles/PMC6376703" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27120200">Natural History of Cardiac and Respiratory Involvement, Prognosis and Predictive Factors for Long-Term Survival in Adult Patients with Limb Girdle Muscular Dystrophies Type 2C and 2D.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fayssoil A,
|
||
Ogna A,
|
||
Chaffaut C,
|
||
Chevret S,
|
||
Guimarães-Costa R,
|
||
Leturcq F,
|
||
Wahbi K,
|
||
Prigent H,
|
||
Lofaso F,
|
||
Nardi O,
|
||
Clair B,
|
||
Behin A,
|
||
Stojkovic T,
|
||
Laforet P,
|
||
Orlikowski D,
|
||
Annane D</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2016;11(4):e0153095.
|
||
Epub 2016 Apr 27
|
||
doi: 10.1371/journal.pone.0153095.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27120200" target="_blank">27120200</a><a href="/pmc/articles/PMC4847860" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22240777">A phase I trial of adeno-associated virus serotype 1-γ-sarcoglycan gene therapy for limb girdle muscular dystrophy type 2C.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Herson S,
|
||
Hentati F,
|
||
Rigolet A,
|
||
Behin A,
|
||
Romero NB,
|
||
Leturcq F,
|
||
Laforêt P,
|
||
Maisonobe T,
|
||
Amouri R,
|
||
Haddad H,
|
||
Audit M,
|
||
Montus M,
|
||
Masurier C,
|
||
Gjata B,
|
||
Georger C,
|
||
Cheraï M,
|
||
Carlier P,
|
||
Hogrel JY,
|
||
Herson A,
|
||
Allenbach Y,
|
||
Lemoine FM,
|
||
Klatzmann D,
|
||
Sweeney HL,
|
||
Mulligan RC,
|
||
Eymard B,
|
||
Caizergues D,
|
||
Voït T,
|
||
Benveniste O</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2012 Feb;135(Pt 2):483-92.
|
||
Epub 2012 Jan 11
|
||
doi: 10.1093/brain/awr342.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22240777" target="_blank">22240777</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20350330">Low incidence of limb-girdle muscular dystrophy type 2C revealed by a mutation study in Japanese patients clinically diagnosed with DMD.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Okizuka Y,
|
||
Takeshima Y,
|
||
Itoh K,
|
||
Zhang Z,
|
||
Awano H,
|
||
Maruyama K,
|
||
Kumagai T,
|
||
Yagi M,
|
||
Matsuo M</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genet</span>
|
||
2010 Mar 30;11:49.
|
||
doi: 10.1186/1471-2350-11-49.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20350330" target="_blank">20350330</a><a href="/pmc/articles/PMC2861025" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8900232">Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McNally EM,
|
||
Passos-Bueno MR,
|
||
Bönnemann CG,
|
||
Vainzof M,
|
||
de Sá Moreira E,
|
||
Lidov HG,
|
||
Othmane KB,
|
||
Denton PH,
|
||
Vance JM,
|
||
Zatz M,
|
||
Kunkel LM</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
1996 Nov;59(5):1040-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8900232" target="_blank">8900232</a><a href="/pmc/articles/PMC1914841" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20recessive%20limb-girdle%20muscular%20dystrophy%20type%202C%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (11)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39397694">Mutations in COL6A Gene Family Responsible for Muscular Dystrophies in Three Unrelated Families.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Soltani N,
|
||
Shahbazi Z,
|
||
Karimipoor M,
|
||
Fallah MS,
|
||
Zafarghandi Motlagh F,
|
||
Amini M,
|
||
Jamali M,
|
||
Bagherian H,
|
||
Zeinali R,
|
||
Zeinali S</span><br />
|
||
<span class="medgenPMjournal">Iran Biomed J</span>
|
||
2024 Sep 1;28(5 & 6):297-304.
|
||
doi: 10.61186/ibj.4018.
|
||
[Epub ahead of print]
|
||
<span class="bold">PMID: </span><a href="/pubmed/39397694" target="_blank">39397694</a><a href="/pmc/articles/PMC11829160" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30764848">Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xie Z,
|
||
Hou Y,
|
||
Yu M,
|
||
Liu Y,
|
||
Fan Y,
|
||
Zhang W,
|
||
Wang Z,
|
||
Xiong H,
|
||
Yuan Y</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2019 Feb 14;14(1):43.
|
||
doi: 10.1186/s13023-019-1021-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30764848" target="_blank">30764848</a><a href="/pmc/articles/PMC6376703" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27120200">Natural History of Cardiac and Respiratory Involvement, Prognosis and Predictive Factors for Long-Term Survival in Adult Patients with Limb Girdle Muscular Dystrophies Type 2C and 2D.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fayssoil A,
|
||
Ogna A,
|
||
Chaffaut C,
|
||
Chevret S,
|
||
Guimarães-Costa R,
|
||
Leturcq F,
|
||
Wahbi K,
|
||
Prigent H,
|
||
Lofaso F,
|
||
Nardi O,
|
||
Clair B,
|
||
Behin A,
|
||
Stojkovic T,
|
||
Laforet P,
|
||
Orlikowski D,
|
||
Annane D</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2016;11(4):e0153095.
|
||
Epub 2016 Apr 27
|
||
doi: 10.1371/journal.pone.0153095.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27120200" target="_blank">27120200</a><a href="/pmc/articles/PMC4847860" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14678800">Phenotype and sarcoglycan expression in Tunisian LGMD 2C patients sharing the same del521-T mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kefi M,
|
||
Amouri R,
|
||
Driss A,
|
||
Ben Hamida C,
|
||
Ben Hamida M,
|
||
Kunkel LM,
|
||
Hentati F</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2003 Dec;13(10):779-87.
|
||
doi: 10.1016/s0960-8966(03)00136-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14678800" target="_blank">14678800</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11665864">Dysferlin protein analysis in limb-girdle muscular dystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vainzof M,
|
||
Anderson LV,
|
||
McNally EM,
|
||
Davis DB,
|
||
Faulkner G,
|
||
Valle G,
|
||
Moreira ES,
|
||
Pavanello RC,
|
||
Passos-Bueno MR,
|
||
Zatz M</span><br />
|
||
<span class="medgenPMjournal">J Mol Neurosci</span>
|
||
2001 Aug;17(1):71-80.
|
||
doi: 10.1385/JMN:17:1:71.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11665864" target="_blank">11665864</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20recessive%20limb-girdle%20muscular%20dystrophy%20type%202C%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 (5)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0410173%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (35)</a></li>
|
||
<li><a href="/gtr/tests?term=C0410173%5bDISCUI%5d&filter=method%3A1%5F2" target="_blank">Enzyme assay (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0410173%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0410173%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (8)</a></li>
|
||
<li><a href="/gtr/tests?term=C0410173%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (51)</a></li>
|
||
<li><a href="/gtr/tests?term=C0410173%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (17)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0410173%5bDISCUI%5d" target="_blank">See all (58)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=253700" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=353" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Autosomal%20recessive%20limb-girdle%20muscular%20dystrophy%20type%202C" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=608896" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=6445[geneid]" target="_blank">View SGCG variations in ClinVar</a></li><li><a href="/nuccore/209862735" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=253700" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Limb-girdle+muscular+dystrophy%2C+type+2C/4238" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/muscular_dystrophy_limb_girdle_autosomal_recessive_5" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Autosomal%20recessive%20limb-girdle%20muscular%20dystrophy%20type%202C" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/2429/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Autosomal%20recessive%20limb-girdle%20muscular%20dystrophy%20type%202C" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Autosomal%20recessive%20limb-girdle%20muscular%20dystrophy%20type%202C%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=98045" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=98045" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0410173[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0410173[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=98045" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/books?LinkName=medgen_books&from_uid=98045" ref="log$=recordlinks">NCBI Bookshelf</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Bookshelf</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=98045" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=98045" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=98045" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=98045" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=98045" ref="log$=recordlinks">PubMed (OMIM)</a>
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