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<meta name="keywords" content="C1834674, benign autosomal dominant myopathy, benign congenital muscular dystrophy, benign congenital myopathy with contractures, bethlem myopathy, bethlem myopathy 1, bethlem myopathy 1a, bethlem myopathy type 1, bthlm1, bthlm1a, disease or syndrome, muscular dystrophy, benign congenital, myopathy, benign congenital, with contractures, 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="Bethlem myopathy-1 (BTHLM1) is a congenital muscular dystrophy characterized by distal joint laxity and a combination of distal and proximal joint contractures. The age at onset is highly variable, ranging from infancy to adulthood. Disease progression is slow and ambulation is usually retained into adulthood (summary by Butterfield et al., 2013). Genetic Heterogeneity of Bethlem Myopathy See Bethlem myopathy-1B (BTHLM1B; 620725), caused by mutation in the COL6A2 gene (120240) on chromosome 21q22; Bethlem myopathy-1C (620726), caused by mutation the COL6A3 gene (120250) on chromosome 2q37; and Bethlem myopathy-2 (BTHLM2; 616471), caused by mutation in the COL12A1 gene (120320) on chromosome 6q13-q14." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=331805
|
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ConceptID=C1834674
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Bethlem myopathy<span class="h1sub">(BTHLM1; BTHLM1A)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331805</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.">C1834674</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>Benign Congenital Muscular Dystrophy; Benign Congenital Myopathy with Contractures; Muscular dystrophy, benign congenital; Myopathy, benign congenital, with contractures</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Bethlem myopathy (718572004); Benign autosomal dominant myopathy (718572004)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/1303">COL12A1</a>, <a target="_blank" href="/gene/1293">COL6A3</a>, <a target="_blank" href="/gene/1292">COL6A2</a>, <a target="_blank" href="/gene/1291">COL6A1</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0008029" target="_blank">MONDO:0008029</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/120220" target="_blank">120220</a>; <a href="https://omim.org/entry/158810" target="_blank">158810</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS158810" target="_blank">PS158810</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=610">ORPHA610</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">Bethlem myopathy-1 (BTHLM1) is a congenital muscular dystrophy characterized by distal joint laxity and a combination of distal and proximal joint contractures. The age at onset is highly variable, ranging from infancy to adulthood. Disease progression is slow and ambulation is usually retained into adulthood (summary by Butterfield et al., 2013). Genetic Heterogeneity of Bethlem Myopathy See Bethlem myopathy-1B (BTHLM1B; 620725), caused by mutation in the COL6A2 gene (120240) on chromosome 21q22; Bethlem myopathy-1C (620726), caused by mutation the COL6A3 gene (120250) on chromosome 2q37; and Bethlem myopathy-2 (BTHLM2; 616471), caused by mutation in the COL12A1 gene (120320) on chromosome 6q13-q14. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Individuals with collagen VI-related dystrophy often have signs and symptoms of multiple forms of this condition, so it can be difficult to assign a specific diagnosis. The overlap in disease features, in addition to their common cause, is why these once separate conditions are now considered part of the same disease spectrum.<br /><br />People with Ullrich congenital muscular dystrophy have severe muscle weakness beginning soon after birth. Some affected individuals are never able to walk and others can walk only with support. Those who can walk often lose the ability, usually in early adolescence. Individuals with Ullrich congenital muscular dystrophy develop contractures in their shoulders, elbows, hips, and knees, which further impair movement. Many individuals with this form of the condition have loose joints (joint laxity) in the fingers, wrists, toes, ankles, and other joints. Affected individuals need continuous mechanical ventilation to help them breathe while sleeping, and some may need it in the daytime. As in Bethlem muscular dystrophy, some people with Ullrich congenital muscular dystrophy have follicular hyperkeratosis; soft, velvety skin on the palms and soles; and abnormal wound healing.<br /><br />The intermediate form of collagen VI-related dystrophy is characterized by muscle weakness that begins in infancy. Affected children are able to walk, although walking becomes increasingly difficult starting in early adulthood. They develop contractures in their fingers, elbows, shoulders, and ankles in childhood. In some affected people, the respiratory muscles are weakened, requiring people to use a machine to help them breathe (mechanical ventilation), particularly during sleep.<br /><br />People with Bethlem muscular dystrophy usually have low muscle tone (hypotonia) in infancy. Muscle weakness can begin at any age but often appears in childhood to early adulthood. The muscle weakness is slowly progressive, with about two-thirds of affected individuals over age 50 needing walking assistance, particularly when outdoors. Affected individuals usually develop contractures by adulthood, typically in their fingers, elbows, shoulders, and ankles. Older individuals may develop weakness in respiratory muscles, which can cause breathing problems. Some people with this mild form of collagen VI-related dystrophy have skin abnormalities, including small bumps called follicular hyperkeratosis on the arms and legs; soft, velvety skin on the palms of the hands and soles of the feet; and abnormal wound healing that creates shallow scars.<br /><br />Collagen VI-related dystrophy is a group of disorders that affect skeletal muscles (which are the muscles used for movement) and connective tissue (which provides strength and flexibility to the skin, joints, and other structures throughout the body). Most affected individuals have muscle weakness and joint deformities called contractures that restrict movement of the affected joints and worsen over time. Researchers have described several forms of collagen VI-related dystrophy, which range in severity: Bethlem muscular dystrophy is the mildest, an intermediate form is moderate in severity, and Ullrich congenital muscular dystrophy is the most severe. <a target="_blank" href="https://medlineplus.gov/genetics/condition/collagen-vi-related-myopathy">https://medlineplus.gov/genetics/condition/collagen-vi-related-myopathy</a></div></div>
|
||
</div>
|
||
|
||
<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_13917"><div><strong>Arthralgia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>13917</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.">C0003862</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Joint pain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/13917">Feature record</a> | <a href="/medgen?term=%22Arthralgia%22%5BClinical%20Features%5D%20OR%2013917%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10976"><div><strong>Proteinuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10976</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.">C0033687</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased levels of protein in the urine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10976">Feature record</a> | <a href="/medgen?term=%22Proteinuria%22%5BClinical%20Features%5D%20OR%2010976%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_120466"><div><strong>Recurrent urinary tract infections</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120466</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.">C0262655</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Repeated infections of the urinary tract.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120466">Feature record</a> | <a href="/medgen?term=%22Recurrent%20urinary%20tract%20infections%22%5BClinical%20Features%5D%20OR%20120466%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_633103"><div><strong>Macroscopic hematuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>633103</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.">C0473237</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hematuria that is visible upon inspection of the urine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/633103">Feature record</a> | <a href="/medgen?term=%22Macroscopic%20hematuria%22%5BClinical%20Features%5D%20OR%20633103%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_575402"><div><strong>Ankle contracture</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>575402</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.">C0343148</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Acquired Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Ankle%20contracture%22%5BClinical%20Features%5D%20OR%20575402%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_675590"><div><strong>Pes cavus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>675590</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.">C0728829</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/675590">Feature record</a> | <a href="/medgen?term=%22Pes%20cavus%22%5BClinical%20Features%5D%20OR%20675590%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_332406"><div><strong>Knee contracture</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332406</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.">C1837263</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the knee joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332406">Feature record</a> | <a href="/medgen?term=%22Knee%20contracture%22%5BClinical%20Features%5D%20OR%20332406%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_339837"><div><strong>Shoulder girdle muscle atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>339837</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.">C1847766</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Amyotrophy affecting the muscles of the shoulder girdle.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/339837">Feature record</a> | <a href="/medgen?term=%22Shoulder%20girdle%20muscle%20atrophy%22%5BClinical%20Features%5D%20OR%20339837%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_347625"><div><strong>Limb-girdle muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347625</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.">C1858127</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347625">Feature record</a> | <a href="/medgen?term=%22Limb-girdle%20muscle%20weakness%22%5BClinical%20Features%5D%20OR%20347625%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_116727"><div><strong>Abnormality of the cardiovascular system</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116727</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.">C0243050</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any abnormality of the cardiovascular system.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116727">Feature record</a> | <a href="/medgen?term=%22Abnormality%20of%20the%20cardiovascular%20system%22%5BClinical%20Features%5D%20OR%20116727%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_105507"><div><strong>Abnormal EKG</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105507</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.">C0522055</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal rhythm of the heart.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/105507">Feature record</a> | <a href="/medgen?term=%22Abnormal%20EKG%22%5BClinical%20Features%5D%20OR%20105507%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11859"><div><strong>Torticollis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11859</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.">C0040485</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Torticollis is a twisted neck as a result of shortening of sternocleidomastoid muscle. This short and fibrotic muscle pulls the head laterally and rotates the chin and face to the opposite end. Facial asymmetry may be a manifestation (summary by Engin et al., 1997).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11859">Feature record</a> | <a href="/medgen?term=%22Torticollis%22%5BClinical%20Features%5D%20OR%2011859%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_115943"><div><strong>Areflexia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>115943</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.">C0234146</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Absence of neurologic reflexes such as the knee-jerk reaction.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/115943">Feature record</a> | <a href="/medgen?term=%22Areflexia%22%5BClinical%20Features%5D%20OR%20115943%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98104"><div><strong>Tip-toe gait</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98104</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.">C0427144</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98104">Feature record</a> | <a href="/medgen?term=%22Tip-toe%20gait%22%5BClinical%20Features%5D%20OR%2098104%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_381392"><div><strong>Motor delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381392</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.">C1854301</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of Developmental delay characterized by a delay in acquiring motor skills.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/381392">Feature record</a> | <a href="/medgen?term=%22Motor%20delay%22%5BClinical%20Features%5D%20OR%20381392%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_355800"><div><strong>Abnormal nerve conduction velocity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355800</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.">C1866772</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/355800">Feature record</a> | <a href="/medgen?term=%22Abnormal%20nerve%20conduction%20velocity%22%5BClinical%20Features%5D%20OR%20355800%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</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.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1671020"><div><strong>Abnormal cranial nerve physiology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1671020</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.">C4732756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A functional abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1671020">Feature record</a> | <a href="/medgen?term=%22Abnormal%20cranial%20nerve%20physiology%22%5BClinical%20Features%5D%20OR%201671020%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9258"><div><strong>Congenital hip dislocation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9258</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.">C0019555</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9258">Feature record</a> | <a href="/medgen?term=%22Congenital%20hip%20dislocation%22%5BClinical%20Features%5D%20OR%209258%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_44042"><div><strong>Kyphosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44042</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.">C0022821</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Exaggerated anterior convexity of the thoracic vertebral column.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/44042">Feature record</a> | <a href="/medgen?term=%22Kyphosis%22%5BClinical%20Features%5D%20OR%2044042%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10135"><div><strong>Myopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10135</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.">C0026848</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10135">Feature record</a> | <a href="/medgen?term=%22Myopathy%22%5BClinical%20Features%5D%20OR%2010135%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_113169"><div><strong>Proximal muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>113169</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.">C0221629</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A lack of strength of the proximal muscles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/113169">Feature record</a> | <a href="/medgen?term=%22Proximal%20muscle%20weakness%22%5BClinical%20Features%5D%20OR%20113169%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_68676"><div><strong>Difficulty climbing stairs</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68676</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.">C0239067</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced ability to climb stairs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68676">Feature record</a> | <a href="/medgen?term=%22Difficulty%20climbing%20stairs%22%5BClinical%20Features%5D%20OR%2068676%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66808"><div><strong>Neck muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66808</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.">C0240479</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Decreased strength of the neck musculature.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66808">Feature record</a> | <a href="/medgen?term=%22Neck%20muscle%20weakness%22%5BClinical%20Features%5D%20OR%2066808%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_575400"><div><strong>Finger joint contracture</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>575400</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.">C0343146</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Acquired Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of a finger joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Finger%20joint%20contracture%22%5BClinical%20Features%5D%20OR%20575400%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98041"><div><strong>Camptodactyly of finger</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98041</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.">C0409348</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98041">Feature record</a> | <a href="/medgen?term=%22Camptodactyly%20of%20finger%22%5BClinical%20Features%5D%20OR%2098041%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_140883"><div><strong>Distal muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140883</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.">C0427065</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced strength of the musculature of the distal extremities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140883">Feature record</a> | <a href="/medgen?term=%22Distal%20muscle%20weakness%22%5BClinical%20Features%5D%20OR%20140883%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_108251"><div><strong>Difficulty running</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>108251</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.">C0560346</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced ability to run.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/108251">Feature record</a> | <a href="/medgen?term=%22Difficulty%20running%22%5BClinical%20Features%5D%20OR%20108251%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_331445"><div><strong>Elbow contracture</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331445</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.">C1833142</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A limitation in the passive range of motion of the elbow resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/331445">Feature record</a> | <a href="/medgen?term=%22Elbow%20contracture%22%5BClinical%20Features%5D%20OR%20331445%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_324515"><div><strong>Distal lower limb amyotrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324515</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.">C1836451</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Muscular atrophy of distal leg muscles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324515">Feature record</a> | <a href="/medgen?term=%22Distal%20lower%20limb%20amyotrophy%22%5BClinical%20Features%5D%20OR%20324515%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_330782"><div><strong>Centrally nucleated skeletal muscle fibers</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>330782</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.">C1842170</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/330782">Feature record</a> | <a href="/medgen?term=%22Centrally%20nucleated%20skeletal%20muscle%20fibers%22%5BClinical%20Features%5D%20OR%20330782%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_334472"><div><strong>Axial muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334472</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.">C1843697</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/334472">Feature record</a> | <a href="/medgen?term=%22Axial%20muscle%20weakness%22%5BClinical%20Features%5D%20OR%20334472%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_412209"><div><strong>Neonatal hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>412209</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.">C2267233</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/412209">Feature record</a> | <a href="/medgen?term=%22Neonatal%20hypotonia%22%5BClinical%20Features%5D%20OR%20412209%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_478824"><div><strong>Fiber type grouping</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>478824</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.">C3277194</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal distribution of muscle fiber types in muscle tissue. Human skeletal muscle contains at least two fiber types recognizable by histochemical techniques. In transverse sections of normal skeletal muscle, type 1 and type 2 fibers are distributed in a random fashion. Grouping of fibers of the same type can be seen in certain peripheral neuropathies, thought to be due to reinnervation of denervated muscle fibers by sprouting axons. With grouping, motor units enlarge. The fibers of a motor unit, which are normally scattered, come to lie adjacent to one another. Histochemical examination shows groups of muscle fibers of the same histochemical type.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/478824">Feature record</a> | <a href="/medgen?term=%22Fiber%20type%20grouping%22%5BClinical%20Features%5D%20OR%20478824%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_866735"><div><strong>Fatty replacement of skeletal muscle</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>866735</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.">C4021082</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/866735">Feature record</a> | <a href="/medgen?term=%22Fatty%20replacement%20of%20skeletal%20muscle%22%5BClinical%20Features%5D%20OR%20866735%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_867362"><div><strong>EMG: myopathic abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867362</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.">C4021726</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867362">Feature record</a> | <a href="/medgen?term=%22EMG%3A%20myopathic%20abnormalities%22%5BClinical%20Features%5D%20OR%20867362%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1830310"><div><strong>Arthrogryposis multiplex congenita</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1830310</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.">C5779613</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Multiple congenital contractures in different body areas.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1830310">Feature record</a> | <a href="/medgen?term=%22Arthrogryposis%20multiplex%20congenita%22%5BClinical%20Features%5D%20OR%201830310%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_812797"><div><strong>Respiratory insufficiency due to muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>812797</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.">C3806467</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/812797">Feature record</a> | <a href="/medgen?term=%22Respiratory%20insufficiency%20due%20to%20muscle%20weakness%22%5BClinical%20Features%5D%20OR%20812797%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1830322"><div><strong>Skin rash</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1830322</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.">C5779628</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A red eruption of the skin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1830322">Feature record</a> | <a href="/medgen?term=%22Skin%20rash%22%5BClinical%20Features%5D%20OR%201830322%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="divPopper rprt" id="clin_342469"><div><strong>Mildly elevated creatine kinase</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342469</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.">C1850309</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342469">Feature record</a> | <a href="/medgen?term=%22Mildly%20elevated%20creatine%20kinase%22%5BClinical%20Features%5D%20OR%20342469%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_86902"><div><strong>Congenital muscular torticollis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>86902</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.">C0079352</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A congenital form of torticollis resulting from shortening of the sternocleidomastoid muscle and leading to a limited range of motion in both rotation and lateral bending.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/86902">Feature record</a> | <a href="/medgen?term=%22Congenital%20muscular%20torticollis%22%5BClinical%20Features%5D%20OR%2086902%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_82664"><div><strong>Keratosis pilaris</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82664</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.">C0263383</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82664">Feature record</a> | <a href="/medgen?term=%22Keratosis%20pilaris%22%5BClinical%20Features%5D%20OR%2082664%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_83101"><div><strong>Phrynoderma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83101</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.">C0334013</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/83101">Feature record</a> | <a href="/medgen?term=%22Phrynoderma%22%5BClinical%20Features%5D%20OR%2083101%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_68618"><div><strong>Decreased fetal movement</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68618</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.">C0235659</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal reduction in quantity or strength of fetal movements.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68618">Feature record</a> | <a href="/medgen?term=%22Decreased%20fetal%20movement%22%5BClinical%20Features%5D%20OR%2068618%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 head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_86902" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital muscular torticollis</a></span></li></ul></li><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_575402" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ankle contracture</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_332406" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Knee contracture</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_347625" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Limb-girdle muscle weakness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_675590" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pes cavus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_339837" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Shoulder girdle muscle atrophy</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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_342469" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mildly elevated creatine kinase</a></span></li></ul></li><li><span class="TLline">Abnormality of prenatal development or birth</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68618" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased fetal movement</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_105507" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal EKG</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_116727" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormality of the cardiovascular system</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_633103" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macroscopic hematuria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10976" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proteinuria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_120466" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent urinary tract infections</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_1830322" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Skin rash</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_82664" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Keratosis pilaris</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_83101" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Phrynoderma</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_1830310" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arthrogryposis multiplex congenita</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_334472" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Axial muscle weakness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98041" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Camptodactyly of finger</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_330782" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Centrally nucleated skeletal muscle fibers</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9258" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital hip dislocation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68676" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Difficulty climbing stairs</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_108251" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Difficulty running</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_324515" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Distal lower limb amyotrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140883" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Distal muscle weakness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_331445" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elbow contracture</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867362" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">EMG: myopathic abnormalities</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_866735" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fatty replacement of skeletal muscle</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_478824" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fiber type grouping</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_575400" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Finger joint contracture</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_44042" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Kyphosis</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_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_10135" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66808" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neck muscle weakness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_412209" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neonatal hypotonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_113169" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proximal muscle weakness</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></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_1671020" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal cranial nerve physiology</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_355800" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal nerve conduction velocity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_115943" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Areflexia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_381392" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Motor delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98104" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tip-toe gait</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11859" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Torticollis</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_812797" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Respiratory insufficiency due to muscle weakness</a></span></li></ul></li><li><span class="TLline">Constitutional symptom</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_13917" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arthralgia</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="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1834674[DISCUI]&test_type=Clinical" ref="ncbi_uid=331805">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=331805" target="_blank" href="/omim/120220">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=331805" ref="ncbi_uid=331805">V</a></span></span><span class="TLline">Bethlem myopathy</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4225313[DISCUI]&test_type=Clinical" ref="ncbi_uid=907426">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=907426" target="_blank" href="/omim/120320">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=907426" ref="ncbi_uid=907426">V</a></span></span><span class="TLline"><a href="/medgen/907426" ref="tree=GTR&ncbi_uid=907426&link_uid=907426" title="View MedGen record for 'Bethlem myopathy 2'">Bethlem myopathy 2</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=CN029274[DISCUI]&test_type=Clinical" ref="ncbi_uid=893688">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1503/" ref="ncbi_uid=893688">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=893688" ref="ncbi_uid=893688">V</a></span></span><span class="TLline"><a href="/medgen/893688" ref="tree=GTR&ncbi_uid=893688&link_uid=893688" title="View MedGen record for 'Bethlem myopathy 1A'">Bethlem myopathy 1A</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1859128" target="_blank" href="/omim/620725">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1503/" ref="ncbi_uid=1859128">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1859128" ref="ncbi_uid=1859128">V</a></span></span><span class="TLline"><a href="/medgen/1859128" ref="tree=GTR&ncbi_uid=1859128&link_uid=1859128" title="View MedGen record for 'Bethlem myopathy 1B'">Bethlem myopathy 1B</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1854240" target="_blank" href="/omim/620726">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1503/" ref="ncbi_uid=1854240">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1854240" ref="ncbi_uid=1854240">V</a></span></span><span class="TLline"><a href="/medgen/1854240" ref="tree=GTR&ncbi_uid=1854240&link_uid=1854240" title="View MedGen record for 'Bethlem myopathy 1C'">Bethlem myopathy 1C</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/147063" ref="tree=MeSH" title="MedGen record for Congenital muscular dystrophy">Congenital muscular dystrophy</a></span><ul><li><span class="matched_ds">Bethlem myopathy</span><ul><li><span class="TLline"><a href="/medgen/907426" ref="tree=MeSH" title="MedGen record for Bethlem myopathy 2">Bethlem myopathy 2</a></span></li><li><span class="TLline"><a href="/medgen/893688" ref="tree=MeSH" title="MedGen record for Bethlem myopathy 1A">Bethlem myopathy 1A</a></span></li><li><span class="TLline"><a href="/medgen/1859128" ref="tree=MeSH" title="MedGen record for Bethlem myopathy 1B">Bethlem myopathy 1B</a></span></li><li><span class="TLline"><a href="/medgen/1854240" ref="tree=MeSH" title="MedGen record for Bethlem myopathy 1C">Bethlem myopathy 1C</a></span></li></ul></li></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=367&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Bethlem myopathy</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37023487">Collagen VI-related myopathies: clinical variability, phenotype-genotype correlation and exploratory transcriptome study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kwong AK,
|
||
Zhang Y,
|
||
Ho RS,
|
||
Gao Y,
|
||
Ling X,
|
||
Tsang MH,
|
||
Luk HM,
|
||
Chung BH,
|
||
Bönnemann CG,
|
||
Javed A,
|
||
Chan SH</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2023 May;33(5):371-381.
|
||
Epub 2023 Mar 12
|
||
doi: 10.1016/j.nmd.2023.03.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37023487" target="_blank">37023487</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19221853">Joint hypermobility as a distinctive feature in the differential diagnosis of myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Voermans NC,
|
||
Bonnemann CG,
|
||
Hamel BC,
|
||
Jungbluth H,
|
||
van Engelen BG</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2009 Jan;256(1):13-27.
|
||
Epub 2009 Feb 9
|
||
doi: 10.1007/s00415-009-0105-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19221853" target="_blank">19221853</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22bethlem%20myopathy%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (2)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37023487">Collagen VI-related myopathies: clinical variability, phenotype-genotype correlation and exploratory transcriptome study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kwong AK,
|
||
Zhang Y,
|
||
Ho RS,
|
||
Gao Y,
|
||
Ling X,
|
||
Tsang MH,
|
||
Luk HM,
|
||
Chung BH,
|
||
Bönnemann CG,
|
||
Javed A,
|
||
Chan SH</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2023 May;33(5):371-381.
|
||
Epub 2023 Mar 12
|
||
doi: 10.1016/j.nmd.2023.03.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37023487" target="_blank">37023487</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35026081">A woman in her fifties with chronic muscle weakness.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rustad CF,
|
||
Tveten K,
|
||
Braathen GJ,
|
||
Merckoll E,
|
||
Kirkhus E,
|
||
Fossmo HL,
|
||
Ørstavik K</span><br />
|
||
<span class="medgenPMjournal">Tidsskr Nor Laegeforen</span>
|
||
2022 Jan 11;142(1)
|
||
Epub 2022 Jan 7
|
||
doi: 10.4045/tidsskr.21.0038.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35026081" target="_blank">35026081</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27854213">Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cruz S,
|
||
Figueroa-Bonaparte S,
|
||
Gallardo E,
|
||
de Becdelièvre A,
|
||
Gartioux C,
|
||
Allamand V,
|
||
Piñol P,
|
||
Garcia MA,
|
||
Jiménez-Mallebriera C,
|
||
Llauger J,
|
||
González-Rodríguez L,
|
||
Cortes-Vicente E,
|
||
Illa I,
|
||
Díaz-Manera J</span><br />
|
||
<span class="medgenPMjournal">J Neuromuscul Dis</span>
|
||
2016 May 27;3(2):267-274.
|
||
doi: 10.3233/JND-150135.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27854213" target="_blank">27854213</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24314752">Diaphragmatic dysfunction in Collagen VI myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Quijano-Roy S,
|
||
Khirani S,
|
||
Colella M,
|
||
Ramirez A,
|
||
Aloui S,
|
||
Wehbi S,
|
||
de Becdelievre A,
|
||
Carlier RY,
|
||
Allamand V,
|
||
Richard P,
|
||
Azzi V,
|
||
Estournet B,
|
||
Fauroux B</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2014 Feb;24(2):125-33.
|
||
Epub 2013 Nov 16
|
||
doi: 10.1016/j.nmd.2013.11.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24314752" target="_blank">24314752</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22772161">Independent mobility after early introduction of a power wheelchair in spinal muscular atrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dunaway S,
|
||
Montes J,
|
||
O'Hagen J,
|
||
Sproule DM,
|
||
Vivo DC,
|
||
Kaufmann P</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
2013 May;28(5):576-82.
|
||
Epub 2012 Jul 6
|
||
doi: 10.1177/0883073812449383.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22772161" target="_blank">22772161</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bethlem%20myopathy%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (43)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/23595177">Muscle MRI in Bethlem myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Morrow JM,
|
||
Pitceathly RD,
|
||
Quinlivan RM,
|
||
Yousry TA</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2013 Apr 16;2013
|
||
doi: 10.1136/bcr-2013-008596.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23595177" target="_blank">23595177</a><a href="/pmc/articles/PMC3645630" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12467756">Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pepe G,
|
||
Bertini E,
|
||
Bonaldo P,
|
||
Bushby K,
|
||
Giusti B,
|
||
de Visser M,
|
||
Guicheney P,
|
||
Lattanzi G,
|
||
Merlini L,
|
||
Muntoni F,
|
||
Nishino I,
|
||
Nonaka I,
|
||
Yaou RB,
|
||
Sabatelli P,
|
||
Sewry C,
|
||
Topaloglu H,
|
||
van der Kooi A</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2002 Dec;12(10):984-93.
|
||
doi: 10.1016/s0960-8966(02)00139-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12467756" target="_blank">12467756</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12374585">Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bertini E,
|
||
Pepe G</span><br />
|
||
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
||
2002;6(4):193-8.
|
||
doi: 10.1053/ejpn.2002.0593.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12374585" target="_blank">12374585</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11801404">Bethlem myopathy (BETHLEM) 86th ENMC international workshop, 10-11 November 2000, Naarden, The Netherlands.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pepe G,
|
||
de Visser M,
|
||
Bertini E,
|
||
Bushby K,
|
||
Vanegas OC,
|
||
Chu ML,
|
||
Lattanzi G,
|
||
Merlini L,
|
||
Muntoni F,
|
||
Urtizberea A</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2002 Mar;12(3):296-305.
|
||
doi: 10.1016/s0960-8966(01)00275-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11801404" target="_blank">11801404</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11562567">The ABC's of limb-girdle muscular dystrophy: alpha-sarcoglycanopathy, Bethlem myopathy, calpainopathy and more.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gordon ES,
|
||
Hoffman EP</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Neurol</span>
|
||
2001 Oct;14(5):567-73.
|
||
doi: 10.1097/00019052-200110000-00004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11562567" target="_blank">11562567</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bethlem%20myopathy%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (72)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33441455">Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related Dystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Natera-de Benito D,
|
||
Foley AR,
|
||
Domínguez-González C,
|
||
Ortez C,
|
||
Jain M,
|
||
Mebrahtu A,
|
||
Donkervoort S,
|
||
Hu Y,
|
||
Fink M,
|
||
Yun P,
|
||
Ogata T,
|
||
Medina J,
|
||
Vigo M,
|
||
Meilleur KG,
|
||
Leach ME,
|
||
Dastgir J,
|
||
Díaz-Manera J,
|
||
Carrera-García L,
|
||
Expósito-Escudero J,
|
||
Alarcon M,
|
||
Cuadras D,
|
||
Montiel-Morillo E,
|
||
Milisenda JC,
|
||
Dominguez-Rubio R,
|
||
Olivé M,
|
||
Colomer J,
|
||
Jou C,
|
||
Jimenez-Mallebrera C,
|
||
Bönnemann CG,
|
||
Nascimento A</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2021 Mar 9;96(10):e1413-e1424.
|
||
Epub 2021 Jan 13
|
||
doi: 10.1212/WNL.0000000000011499.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33441455" target="_blank">33441455</a><a href="/pmc/articles/PMC8055317" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27656840">Autophagy activation in COL6 myopathic patients by a low-protein-diet pilot trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Castagnaro S,
|
||
Pellegrini C,
|
||
Pellegrini M,
|
||
Chrisam M,
|
||
Sabatelli P,
|
||
Toni S,
|
||
Grumati P,
|
||
Ripamonti C,
|
||
Pratelli L,
|
||
Maraldi NM,
|
||
Cocchi D,
|
||
Righi V,
|
||
Faldini C,
|
||
Sandri M,
|
||
Bonaldo P,
|
||
Merlini L</span><br />
|
||
<span class="medgenPMjournal">Autophagy</span>
|
||
2016 Dec;12(12):2484-2495.
|
||
Epub 2016 Sep 22
|
||
doi: 10.1080/15548627.2016.1231279.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27656840" target="_blank">27656840</a><a href="/pmc/articles/PMC5173266" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19076452">Dysfunction of mitochondria and sarcoplasmic reticulum in the pathogenesis of collagen VI muscular dystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bernardi P,
|
||
Bonaldo P</span><br />
|
||
<span class="medgenPMjournal">Ann N Y Acad Sci</span>
|
||
2008 Dec;1147:303-11.
|
||
doi: 10.1196/annals.1427.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19076452" target="_blank">19076452</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19019314">Therapy of collagen VI-related myopathies (Bethlem and Ullrich).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Merlini L,
|
||
Bernardi P</span><br />
|
||
<span class="medgenPMjournal">Neurotherapeutics</span>
|
||
2008 Oct;5(4):613-8.
|
||
doi: 10.1016/j.nurt.2008.08.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19019314" target="_blank">19019314</a><a href="/pmc/articles/PMC4514708" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18362356">Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Merlini L,
|
||
Angelin A,
|
||
Tiepolo T,
|
||
Braghetta P,
|
||
Sabatelli P,
|
||
Zamparelli A,
|
||
Ferlini A,
|
||
Maraldi NM,
|
||
Bonaldo P,
|
||
Bernardi P</span><br />
|
||
<span class="medgenPMjournal">Proc Natl Acad Sci U S A</span>
|
||
2008 Apr 1;105(13):5225-9.
|
||
Epub 2008 Mar 24
|
||
doi: 10.1073/pnas.0800962105.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18362356" target="_blank">18362356</a><a href="/pmc/articles/PMC2278179" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bethlem%20myopathy%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 (10)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35026081">A woman in her fifties with chronic muscle weakness.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rustad CF,
|
||
Tveten K,
|
||
Braathen GJ,
|
||
Merckoll E,
|
||
Kirkhus E,
|
||
Fossmo HL,
|
||
Ørstavik K</span><br />
|
||
<span class="medgenPMjournal">Tidsskr Nor Laegeforen</span>
|
||
2022 Jan 11;142(1)
|
||
Epub 2022 Jan 7
|
||
doi: 10.4045/tidsskr.21.0038.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35026081" target="_blank">35026081</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27854213">Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cruz S,
|
||
Figueroa-Bonaparte S,
|
||
Gallardo E,
|
||
de Becdelièvre A,
|
||
Gartioux C,
|
||
Allamand V,
|
||
Piñol P,
|
||
Garcia MA,
|
||
Jiménez-Mallebriera C,
|
||
Llauger J,
|
||
González-Rodríguez L,
|
||
Cortes-Vicente E,
|
||
Illa I,
|
||
Díaz-Manera J</span><br />
|
||
<span class="medgenPMjournal">J Neuromuscul Dis</span>
|
||
2016 May 27;3(2):267-274.
|
||
doi: 10.3233/JND-150135.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27854213" target="_blank">27854213</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24314752">Diaphragmatic dysfunction in Collagen VI myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Quijano-Roy S,
|
||
Khirani S,
|
||
Colella M,
|
||
Ramirez A,
|
||
Aloui S,
|
||
Wehbi S,
|
||
de Becdelievre A,
|
||
Carlier RY,
|
||
Allamand V,
|
||
Richard P,
|
||
Azzi V,
|
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Estournet B,
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Fauroux B</span><br />
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<span class="medgenPMjournal">Neuromuscul Disord</span>
|
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2014 Feb;24(2):125-33.
|
||
Epub 2013 Nov 16
|
||
doi: 10.1016/j.nmd.2013.11.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24314752" target="_blank">24314752</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22772161">Independent mobility after early introduction of a power wheelchair in spinal muscular atrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dunaway S,
|
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Montes J,
|
||
O'Hagen J,
|
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Sproule DM,
|
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<span class="medgenPMjournal">J Child Neurol</span>
|
||
2013 May;28(5):576-82.
|
||
Epub 2012 Jul 6
|
||
doi: 10.1177/0883073812449383.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22772161" target="_blank">22772161</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11562567">The ABC's of limb-girdle muscular dystrophy: alpha-sarcoglycanopathy, Bethlem myopathy, calpainopathy and more.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gordon ES,
|
||
Hoffman EP</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Neurol</span>
|
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2001 Oct;14(5):567-73.
|
||
doi: 10.1097/00019052-200110000-00004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11562567" target="_blank">11562567</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bethlem%20myopathy%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (35)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37569848">New Clinical and Immunofluoresence Data of Collagen VI-Related Myopathy: A Single Center Cohort of 69 Patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Merlini L,
|
||
Sabatelli P,
|
||
Gualandi F,
|
||
Redivo E,
|
||
Di Martino A,
|
||
Faldini C</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2023 Aug 5;24(15)
|
||
doi: 10.3390/ijms241512474.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37569848" target="_blank">37569848</a><a href="/pmc/articles/PMC10420187" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29406609">Collagen VI-related myopathy: Expanding the clinical and genetic spectrum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim SY,
|
||
Kim WJ,
|
||
Kim H,
|
||
Choi SA,
|
||
Lee JS,
|
||
Cho A,
|
||
Jang SS,
|
||
Lim BC,
|
||
Kim KJ,
|
||
Kim JI,
|
||
Hahn SH,
|
||
Chae JH</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2018 Sep;58(3):381-388.
|
||
doi: 10.1002/mus.26093.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29406609" target="_blank">29406609</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25535305">Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deconinck N,
|
||
Richard P,
|
||
Allamand V,
|
||
Behin A,
|
||
Lafôret P,
|
||
Ferreiro A,
|
||
de Becdelievre A,
|
||
Ledeuil C,
|
||
Gartioux C,
|
||
Nelson I,
|
||
Carlier RY,
|
||
Carlier P,
|
||
Wahbi K,
|
||
Romero N,
|
||
Zabot MT,
|
||
Bouhour F,
|
||
Tiffreau V,
|
||
Lacour A,
|
||
Eymard B,
|
||
Stojkovic T</span><br />
|
||
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
|
||
2015 Dec;86(12):1337-46.
|
||
Epub 2014 Dec 22
|
||
doi: 10.1136/jnnp-2013-307245.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25535305" target="_blank">25535305</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19221853">Joint hypermobility as a distinctive feature in the differential diagnosis of myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Voermans NC,
|
||
Bonnemann CG,
|
||
Hamel BC,
|
||
Jungbluth H,
|
||
van Engelen BG</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2009 Jan;256(1):13-27.
|
||
Epub 2009 Feb 9
|
||
doi: 10.1007/s00415-009-0105-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19221853" target="_blank">19221853</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12218063">Effects on collagen VI mRNA stability and microfibrillar assembly of three COL6A2 mutations in two families with Ullrich congenital muscular dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang RZ,
|
||
Sabatelli P,
|
||
Pan TC,
|
||
Squarzoni S,
|
||
Mattioli E,
|
||
Bertini E,
|
||
Pepe G,
|
||
Chu ML</span><br />
|
||
<span class="medgenPMjournal">J Biol Chem</span>
|
||
2002 Nov 15;277(46):43557-64.
|
||
Epub 2002 Sep 5
|
||
doi: 10.1074/jbc.M207696200.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12218063" target="_blank">12218063</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bethlem%20myopathy%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (36)</a></div></div>
|
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|
||
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|
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|
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|
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|
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|
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<div class="supplemental col three_col last">
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1834674%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (3)</a></li>
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<li><a href="/gtr/tests?term=C1834674%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (3)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1834674%5bDISCUI%5d" target="_blank">See all (3)</a></total></li>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22bethlem%20myopathy%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Bethlem+Myopathy/818" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/bethlem_myopathy_1a" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Bethlem%20myopathy" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/collagen-vi-related-myopathy" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/873/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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