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<meta name="keywords" content="C2675527, cmyo12, cntn1, compton-north congenital myopathy, congenital lethal myopathy, compton-north type, congenital myopathy 12, disease or syndrome, myopathy, congenital, compton-north, mypcn, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Congenital myopathy-12 (CMYO12) is an autosomal recessive disorder characterized by severe neonatal hypotonia resulting in feeding difficulties and respiratory failure within the first months of life. There is evidence of the disorder in utero, with decreased fetal movements and polyhydramnios. Additional features may include high-arched palate and contractures. Skeletal muscle biopsy shows myopathic changes with disrupted sarcomeres and minicore-like structures (Compton et al., 2008).&#13; For a discussion of genetic heterogeneity of congenital myopathy, see CMYO1A (117000)." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Compton-North congenital myopathy (Concept Id: C2675527)
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<!--
UID=393406
ConceptID=C2675527
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Compton-North congenital myopathy<span class="h1sub">(CMYO12)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>393406</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)&#10;Click for more information."><span class="highlight" style="background-color:">C2675527</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
<td>CMYO12</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)&#10;Click for more information.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
<div class="spaceAbove">Source: Orphanet</div>
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
Gene(s) directly associated with<br />
this condition or phenotype.</div></td>
<td><a target="_blank" title="CNTN1 - ID: 1272 - NCBI Gene" href="/gene/1272" class="medgenPMinfo">CNTN1</a> (12q12)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0012929" target="_blank">MONDO:0012929</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/612540" target="_blank">612540</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&amp;Expert=210163">ORPHA210163</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
<div class="portlet mgSection" id="ID_100">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">Congenital myopathy-12 (CMYO12) is an autosomal recessive disorder characterized by severe neonatal hypotonia resulting in feeding difficulties and respiratory failure within the first months of life. There is evidence of the disorder in utero, with decreased fetal movements and polyhydramnios. Additional features may include high-arched palate and contractures. Skeletal muscle biopsy shows myopathic changes with disrupted sarcomeres and minicore-like structures (Compton et al., 2008).&#13; For a discussion of genetic heterogeneity of congenital myopathy, see CMYO1A (117000). [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_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_2047"><div><strong>Arachnodactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2047</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)&#10;Click for more information.">C0003706</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Abnormally long and slender fingers (spider fingers).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/2047">Feature record</a> | <a href="/medgen?term=%22Arachnodactyly%22%5BClinical%20Features%5D%20OR%202047%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_252954"><div><strong>Overlapping fingers</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>252954</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)&#10;Click for more information.">C1446712</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A finger resting on the dorsal surface of an adjacent digit when the hand is at rest.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/252954">Feature record</a> | <a href="/medgen?term=%22Overlapping%20fingers%22%5BClinical%20Features%5D%20OR%20252954%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_65965"><div><strong>Pulmonary artery stenosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65965</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)&#10;Click for more information.">C0238397</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/65965">Feature record</a> | <a href="/medgen?term=%22Pulmonary%20artery%20stenosis%22%5BClinical%20Features%5D%20OR%2065965%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_65920"><div><strong>Small for gestational age</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65920</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)&#10;Click for more information.">C0235991</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/65920">Feature record</a> | <a href="/medgen?term=%22Small%20for%20gestational%20age%22%5BClinical%20Features%5D%20OR%2065920%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_65429"><div><strong>Feeding difficulties</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65429</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)&#10;Click for more information.">C0232466</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/65429">Feature record</a> | <a href="/medgen?term=%22Feeding%20difficulties%22%5BClinical%20Features%5D%20OR%2065429%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_324693"><div><strong>Poor suck</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324693</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)&#10;Click for more information.">C1837142</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/324693">Feature record</a> | <a href="/medgen?term=%22Poor%20suck%22%5BClinical%20Features%5D%20OR%20324693%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_43218"><div><strong>Akinesia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43218</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)&#10;Click for more information.">C0085623</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/43218">Feature record</a> | <a href="/medgen?term=%22Akinesia%22%5BClinical%20Features%5D%20OR%2043218%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)&#10;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_107838"><div><strong>Global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107838</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)&#10;Click for more information.">C0557874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/107838">Feature record</a> | <a href="/medgen?term=%22Global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20107838%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_10133"><div><strong>Hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10133</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)&#10;Click for more information.">C0026827</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/10133">Feature record</a> | <a href="/medgen?term=%22Hypotonia%22%5BClinical%20Features%5D%20OR%2010133%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_57735"><div><strong>Muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57735</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)&#10;Click for more information.">C0151786</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Reduced strength of muscles.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/57735">Feature record</a> | <a href="/medgen?term=%22Muscle%20weakness%22%5BClinical%20Features%5D%20OR%2057735%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_56382"><div><strong>Joint contracture of the hand</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56382</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)&#10;Click for more information.">C0158113</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/56382">Feature record</a> | <a href="/medgen?term=%22Joint%20contracture%20of%20the%20hand%22%5BClinical%20Features%5D%20OR%2056382%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_65142"><div><strong>Dolichocephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65142</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)&#10;Click for more information.">C0221358</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/65142">Feature record</a> | <a href="/medgen?term=%22Dolichocephaly%22%5BClinical%20Features%5D%20OR%2065142%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_82712"><div><strong>Isolated scaphocephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82712</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)&#10;Click for more information.">C0265534</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). Scaphocephaly is caused by a precocious fusion of sagittal suture without other associated synostosis.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/82712">Feature record</a> | <a href="/medgen?term=%22Isolated%20scaphocephaly%22%5BClinical%20Features%5D%20OR%2082712%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_195780"><div><strong>Camptodactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>195780</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)&#10;Click for more information.">C0685409</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/195780">Feature record</a> | <a href="/medgen?term=%22Camptodactyly%22%5BClinical%20Features%5D%20OR%20195780%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)&#10;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_939075"><div><strong>Jaw contracture</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>939075</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)&#10;Click for more information.">C4315108</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Limitation of motion of the jaw due to structural changes in a muscle such as the massseter responsible for jaw movement.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/939075">Feature record</a> | <a href="/medgen?term=%22Jaw%20contracture%22%5BClinical%20Features%5D%20OR%20939075%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)&#10;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_868058"><div><strong>Abnormal circulating creatine kinase concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868058</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)&#10;Click for more information.">C4022449</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Any deviation from the normal circulating creatine kinase concentration.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/868058">Feature record</a> | <a href="/medgen?term=%22Abnormal%20circulating%20creatine%20kinase%20concentration%22%5BClinical%20Features%5D%20OR%20868058%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_66814"><div><strong>High palate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66814</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)&#10;Click for more information.">C0240635</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/66814">Feature record</a> | <a href="/medgen?term=%22High%20palate%22%5BClinical%20Features%5D%20OR%2066814%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_324787"><div><strong>High, narrow palate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324787</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)&#10;Click for more information.">C1837404</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">The presence of a high and narrow palate.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/324787">Feature record</a> | <a href="/medgen?term=%22High%2C%20narrow%20palate%22%5BClinical%20Features%5D%20OR%20324787%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_336480"><div><strong>Oval face</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336480</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)&#10;Click for more information.">C1849025</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A face with a rounded and slightly elongated outline.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/336480">Feature record</a> | <a href="/medgen?term=%22Oval%20face%22%5BClinical%20Features%5D%20OR%20336480%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_6936"><div><strong>Polyhydramnios</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6936</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)&#10;Click for more information.">C0020224</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
<div class="spaceAbove">The presence of excess amniotic fluid in the uterus during pregnancy.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/6936">Feature record</a> | <a href="/medgen?term=%22Polyhydramnios%22%5BClinical%20Features%5D%20OR%206936%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_57721"><div><strong>Premature birth</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57721</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)&#10;Click for more information.">C0151526</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
<div class="spaceAbove">The birth of a baby of less than 37 weeks of gestational age.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/57721">Feature record</a> | <a href="/medgen?term=%22Premature%20birth%22%5BClinical%20Features%5D%20OR%2057721%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)&#10;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="divPopper rprt" id="clin_220903"><div><strong>Fetal akinesia deformation sequence 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>220903</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)&#10;Click for more information.">C1276035</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Decreased fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/220903">Feature record</a> | <a href="/medgen?term=%22Fetal%20akinesia%20deformation%20sequence%201%22%5BClinical%20Features%5D%20OR%20220903%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_9373"><div><strong>Hypertelorism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9373</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)&#10;Click for more information.">C0020534</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/9373">Feature record</a> | <a href="/medgen?term=%22Hypertelorism%22%5BClinical%20Features%5D%20OR%209373%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(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).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_66814" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">High palate</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_324787" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">High, narrow palate</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_336480" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oval face</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_2047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arachnodactyly</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_252954" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Overlapping fingers</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_868058" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal circulating creatine kinase concentration</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><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_220903" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fetal akinesia deformation sequence 1</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6936" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polyhydramnios</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57721" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Premature birth</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_65965" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonary artery stenosis</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65429" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Feeding difficulties</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_324693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Poor suck</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9373" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertelorism</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_195780" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Camptodactyly</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65142" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dolichocephaly</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotonia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_82712" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Isolated scaphocephaly</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_939075" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Jaw contracture</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_56382" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Joint contracture of the hand</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57735" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">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></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_43218" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Akinesia</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_107838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay</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">Growth abnormality</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65920" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Small for gestational age</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=C2675527[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=393406">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=393406" target="_blank" href="/omim/600016">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&amp;from_uid=393406" ref="ncbi_uid=393406">V</a></span></span><span class="TLline">Compton-North congenital myopathy</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/868760" ref="tree=MeSH" title="MedGen record for Abnormal skeletal morphology">Abnormal skeletal morphology</a></span><ul><li><span class="TLline"><a href="/medgen/866679" ref="tree=MeSH" title="MedGen record for Abnormal tendon morphology">Abnormal tendon morphology</a></span><ul><li><span class="TLline"><a href="/medgen/3228" ref="tree=MeSH" title="MedGen record for Joint contracture">Joint contracture</a></span><ul><li><span class="TLline"><a href="/medgen/83069" ref="tree=MeSH" title="MedGen record for Flexion contracture">Flexion contracture</a></span><ul><li><span class="TLline"><a href="/medgen/83066" ref="tree=MeSH" title="MedGen record for Congenital contracture">Congenital contracture</a></span><ul><li><span class="TLline"><a href="/medgen/1830310" ref="tree=MeSH" title="MedGen record for Arthrogryposis multiplex congenita">Arthrogryposis multiplex congenita</a></span><ul><li><span class="matched_ds">Compton-North congenital myopathy</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&amp;data_id=156&amp;PatId=18691&amp;search=Disease_Classif_Simple&amp;new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Compton-North congenital 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/36842018">Effect of physical therapy treatment in infants treated for congenital muscular torticollis - a narrative review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bashir A,
Amjad F,
Ahmad A,
Arooj A,
Gilani SA</span><br />
<span class="medgenPMjournal">J Pak Med Assoc</span>
2023 Jan;73(1):111-116.
doi: 10.47391/JPMA.3852.
<span class="bold">PMID: </span><a href="/pubmed/36842018" target="_blank">36842018</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30586772">2018 ACC/AHA/HRS Guideline on the Evaluation and Management of Patients With Bradycardia and Cardiac Conduction Delay: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines and the Heart Rhythm Society.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kusumoto FM,
Schoenfeld MH,
Barrett C,
Edgerton JR,
Ellenbogen KA,
Gold MR,
Goldschlager NF,
Hamilton RM,
Joglar JA,
Kim RJ,
Lee R,
Marine JE,
McLeod CJ,
Oken KR,
Patton KK,
Pellegrini CN,
Selzman KA,
Thompson A,
Varosy PD</span><br />
<span class="medgenPMjournal">Circulation</span>
2019 Aug 20;140(8):e382-e482.
Epub 2018 Nov 6
doi: 10.1161/CIR.0000000000000628.
<span class="bold">PMID: </span><a href="/pubmed/30586772" target="_blank">30586772</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29196274">Neuromuscular diseases: Diagnosis and management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mary P,
Servais L,
Vialle R</span><br />
<span class="medgenPMjournal">Orthop Traumatol Surg Res</span>
2018 Feb;104(1S):S89-S95.
Epub 2017 Nov 28
doi: 10.1016/j.otsr.2017.04.019.
<span class="bold">PMID: </span><a href="/pubmed/29196274" target="_blank">29196274</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(compton-north%20congenital%20myopathy)%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 (286)</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/32703474">Distal Myopathies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Felice KJ</span><br />
<span class="medgenPMjournal">Neurol Clin</span>
2020 Aug;38(3):637-659.
Epub 2020 Jun 11
doi: 10.1016/j.ncl.2020.03.007.
<span class="bold">PMID: </span><a href="/pubmed/32703474" target="_blank">32703474</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32112656">A mutation update for the FLNC gene in myopathies and cardiomyopathies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Verdonschot JAJ,
Vanhoutte EK,
Claes GRF,
Helderman-van den Enden ATJM,
Hoeijmakers JGJ,
Hellebrekers DMEI,
de Haan A,
Christiaans I,
Lekanne Deprez RH,
Boen HM,
van Craenenbroeck EM,
Loeys BL,
Hoedemaekers YM,
Marcelis C,
Kempers M,
Brusse E,
van Waning JI,
Baas AF,
Dooijes D,
Asselbergs FW,
Barge-Schaapveld DQCM,
Koopman P,
van den Wijngaard A,
Heymans SRB,
Krapels IPC,
Brunner HG</span><br />
<span class="medgenPMjournal">Hum Mutat</span>
2020 Jun;41(6):1091-1111.
Epub 2020 Mar 20
doi: 10.1002/humu.24004.
<span class="bold">PMID: </span><a href="/pubmed/32112656" target="_blank">32112656</a><a href="/pmc/articles/PMC7318287" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31578728">Congenital myopathies: an update.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Claeys KG</span><br />
<span class="medgenPMjournal">Dev Med Child Neurol</span>
2020 Mar;62(3):297-302.
Epub 2019 Oct 2
doi: 10.1111/dmcn.14365.
<span class="bold">PMID: </span><a href="/pubmed/31578728" target="_blank">31578728</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31794464">Congenital Muscular Dystrophy and Congenital Myopathy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Butterfield RJ</span><br />
<span class="medgenPMjournal">Continuum (Minneap Minn)</span>
2019 Dec;25(6):1640-1661.
doi: 10.1212/CON.0000000000000792.
<span class="bold">PMID: </span><a href="/pubmed/31794464" target="_blank">31794464</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31228046">Nemaline myopathies: a current view.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sewry CA,
Laitila JM,
Wallgren-Pettersson C</span><br />
<span class="medgenPMjournal">J Muscle Res Cell Motil</span>
2019 Jun;40(2):111-126.
Epub 2019 Jun 21
doi: 10.1007/s10974-019-09519-9.
<span class="bold">PMID: </span><a href="/pubmed/31228046" target="_blank">31228046</a><a href="/pmc/articles/PMC6726674" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Compton-North%20congenital%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 (2047)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/31578728">Congenital myopathies: an update.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Claeys KG</span><br />
<span class="medgenPMjournal">Dev Med Child Neurol</span>
2020 Mar;62(3):297-302.
Epub 2019 Oct 2
doi: 10.1111/dmcn.14365.
<span class="bold">PMID: </span><a href="/pubmed/31578728" target="_blank">31578728</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31794464">Congenital Muscular Dystrophy and Congenital Myopathy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Butterfield RJ</span><br />
<span class="medgenPMjournal">Continuum (Minneap Minn)</span>
2019 Dec;25(6):1640-1661.
doi: 10.1212/CON.0000000000000792.
<span class="bold">PMID: </span><a href="/pubmed/31794464" target="_blank">31794464</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31324324">Neonatal hypotonia and neuromuscular conditions.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mercuri E,
Pera MC,
Brogna C</span><br />
<span class="medgenPMjournal">Handb Clin Neurol</span>
2019;162:435-448.
doi: 10.1016/B978-0-444-64029-1.00021-7.
<span class="bold">PMID: </span><a href="/pubmed/31324324" target="_blank">31324324</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27430445">Muscle ultrasound.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pillen S,
Boon A,
Van Alfen N</span><br />
<span class="medgenPMjournal">Handb Clin Neurol</span>
2016;136:843-53.
doi: 10.1016/B978-0-444-53486-6.00042-9.
<span class="bold">PMID: </span><a href="/pubmed/27430445" target="_blank">27430445</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23584160">Acquired myopathy/dystrophies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chiodo A</span><br />
<span class="medgenPMjournal">PM R</span>
2013 May;5(5 Suppl):S74-80.
Epub 2013 Apr 11
doi: 10.1016/j.pmrj.2013.04.004.
<span class="bold">PMID: </span><a href="/pubmed/23584160" target="_blank">23584160</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Compton-North%20congenital%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 (3395)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/36842018">Effect of physical therapy treatment in infants treated for congenital muscular torticollis - a narrative review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bashir A,
Amjad F,
Ahmad A,
Arooj A,
Gilani SA</span><br />
<span class="medgenPMjournal">J Pak Med Assoc</span>
2023 Jan;73(1):111-116.
doi: 10.47391/JPMA.3852.
<span class="bold">PMID: </span><a href="/pubmed/36842018" target="_blank">36842018</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34506722">Directed evolution of a family of AAV capsid variants enabling potent muscle-directed gene delivery across species.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tabebordbar M,
Lagerborg KA,
Stanton A,
King EM,
Ye S,
Tellez L,
Krunnfusz A,
Tavakoli S,
Widrick JJ,
Messemer KA,
Troiano EC,
Moghadaszadeh B,
Peacker BL,
Leacock KA,
Horwitz N,
Beggs AH,
Wagers AJ,
Sabeti PC</span><br />
<span class="medgenPMjournal">Cell</span>
2021 Sep 16;184(19):4919-4938.e22.
Epub 2021 Sep 9
doi: 10.1016/j.cell.2021.08.028.
<span class="bold">PMID: </span><a href="/pubmed/34506722" target="_blank">34506722</a><a href="/pmc/articles/PMC9344975" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32681750">International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Altassan R,
Radenkovic S,
Edmondson AC,
Barone R,
Brasil S,
Cechova A,
Coman D,
Donoghue S,
Falkenstein K,
Ferreira V,
Ferreira C,
Fiumara A,
Francisco R,
Freeze H,
Grunewald S,
Honzik T,
Jaeken J,
Krasnewich D,
Lam C,
Lee J,
Lefeber D,
Marques-da-Silva D,
Pascoal C,
Quelhas D,
Raymond KM,
Rymen D,
Seroczynska M,
Serrano M,
Sykut-Cegielska J,
Thiel C,
Tort F,
Vals MA,
Videira P,
Voermans N,
Witters P,
Morava E</span><br />
<span class="medgenPMjournal">J Inherit Metab Dis</span>
2021 Jan;44(1):148-163.
Epub 2020 Sep 15
doi: 10.1002/jimd.12286.
<span class="bold">PMID: </span><a href="/pubmed/32681750" target="_blank">32681750</a><a href="/pmc/articles/PMC7855268" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27671187">Chanarin-Dorfman Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Waheed N,
Cheema HA,
Suleman H,
Mushtaq I,
Fayyaz Z</span><br />
<span class="medgenPMjournal">J Coll Physicians Surg Pak</span>
2016 Sep;26(9):787-9.
<span class="bold">PMID: </span><a href="/pubmed/27671187" target="_blank">27671187</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23117950">The muscular dystrophies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Flanigan KM</span><br />
<span class="medgenPMjournal">Semin Neurol</span>
2012 Jul;32(3):255-63.
Epub 2012 Nov 1
doi: 10.1055/s-0032-1329199.
<span class="bold">PMID: </span><a href="/pubmed/23117950" target="_blank">23117950</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Compton-North%20congenital%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 (626)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/36637442">Informing the Physical Therapy Management of Congenital Muscular Torticollis Clinical Practice Guideline: A Systematic Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Castilla A,
Gonzalez M,
Kysh L,
Sargent B</span><br />
<span class="medgenPMjournal">Pediatr Phys Ther</span>
2023 Apr 1;35(2):190-200.
Epub 2023 Jan 10
doi: 10.1097/PEP.0000000000000993.
<span class="bold">PMID: </span><a href="/pubmed/36637442" target="_blank">36637442</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31228046">Nemaline myopathies: a current view.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sewry CA,
Laitila JM,
Wallgren-Pettersson C</span><br />
<span class="medgenPMjournal">J Muscle Res Cell Motil</span>
2019 Jun;40(2):111-126.
Epub 2019 Jun 21
doi: 10.1007/s10974-019-09519-9.
<span class="bold">PMID: </span><a href="/pubmed/31228046" target="_blank">31228046</a><a href="/pmc/articles/PMC6726674" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23584160">Acquired myopathy/dystrophies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chiodo A</span><br />
<span class="medgenPMjournal">PM R</span>
2013 May;5(5 Suppl):S74-80.
Epub 2013 Apr 11
doi: 10.1016/j.pmrj.2013.04.004.
<span class="bold">PMID: </span><a href="/pubmed/23584160" target="_blank">23584160</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19563543">Actinopathies and myosinopathies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Goebel HH,
Laing NG</span><br />
<span class="medgenPMjournal">Brain Pathol</span>
2009 Jul;19(3):516-22.
doi: 10.1111/j.1750-3639.2009.00287.x.
<span class="bold">PMID: </span><a href="/pubmed/19563543" target="_blank">19563543</a><a href="/pmc/articles/PMC8094766" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/1535338">VOJTA neurophysiologic therapy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bauer H,
Appaji G,
Mundt D</span><br />
<span class="medgenPMjournal">Indian J Pediatr</span>
1992 Jan-Feb;59(1):37-51.
doi: 10.1007/BF02760897.
<span class="bold">PMID: </span><a href="/pubmed/1535338" target="_blank">1535338</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Compton-North%20congenital%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 (1328)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/38995680">Uncovering the BIN1-SH3 interactome underpinning centronuclear myopathy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zambo B,
Edelweiss E,
Morlet B,
Negroni L,
Pajkos M,
Dosztanyi Z,
Ostergaard S,
Trave G,
Laporte J,
Gogl G</span><br />
<span class="medgenPMjournal">Elife</span>
2024 Jul 12;13
doi: 10.7554/eLife.95397.
<span class="bold">PMID: </span><a href="/pubmed/38995680" target="_blank">38995680</a><a href="/pmc/articles/PMC11245310" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36842018">Effect of physical therapy treatment in infants treated for congenital muscular torticollis - a narrative review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bashir A,
Amjad F,
Ahmad A,
Arooj A,
Gilani SA</span><br />
<span class="medgenPMjournal">J Pak Med Assoc</span>
2023 Jan;73(1):111-116.
doi: 10.47391/JPMA.3852.
<span class="bold">PMID: </span><a href="/pubmed/36842018" target="_blank">36842018</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34736623">X-linked myotubular myopathy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lawlor MW,
Dowling JJ</span><br />
<span class="medgenPMjournal">Neuromuscul Disord</span>
2021 Oct;31(10):1004-1012.
doi: 10.1016/j.nmd.2021.08.003.
<span class="bold">PMID: </span><a href="/pubmed/34736623" target="_blank">34736623</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30611313">'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Garibaldi M,
Rendu J,
Brocard J,
Lacene E,
Fauré J,
Brochier G,
Beuvin M,
Labasse C,
Madelaine A,
Malfatti E,
Bevilacqua JA,
Lubieniecki F,
Monges S,
Taratuto AL,
Laporte J,
Marty I,
Antonini G,
Romero NB</span><br />
<span class="medgenPMjournal">Acta Neuropathol Commun</span>
2019 Jan 5;7(1):3.
doi: 10.1186/s40478-018-0655-5.
<span class="bold">PMID: </span><a href="/pubmed/30611313" target="_blank">30611313</a><a href="/pmc/articles/PMC6320585" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23919265">Genotype-phenotype correlations in recessive RYR1-related myopathies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Amburgey K,
Bailey A,
Hwang JH,
Tarnopolsky MA,
Bonnemann CG,
Medne L,
Mathews KD,
Collins J,
Daube JR,
Wellman GP,
Callaghan B,
Clarke NF,
Dowling JJ</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2013 Aug 6;8:117.
doi: 10.1186/1750-1172-8-117.
<span class="bold">PMID: </span><a href="/pubmed/23919265" target="_blank">23919265</a><a href="/pmc/articles/PMC3751094" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Compton-North%20congenital%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 (1479)</a></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">
<div class="nl"><a target="_blank" href="/pubmed/36637442">Informing the Physical Therapy Management of Congenital Muscular Torticollis Clinical Practice Guideline: A Systematic Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Castilla A,
Gonzalez M,
Kysh L,
Sargent B</span><br />
<span class="medgenPMjournal">Pediatr Phys Ther</span>
2023 Apr 1;35(2):190-200.
Epub 2023 Jan 10
doi: 10.1097/PEP.0000000000000993.
<span class="bold">PMID: </span><a href="/pubmed/36637442" target="_blank">36637442</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36266132">Talectomy for arthrogrypotic foot deformities: A systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chergui S,
Al-Ali H,
Marwan Y,
Abu Dalu K,
Dahan-Oliel N,
Hamdy RC</span><br />
<span class="medgenPMjournal">Foot Ankle Surg</span>
2023 Jan;29(1):15-21.
Epub 2022 Oct 15
doi: 10.1016/j.fas.2022.10.002.
<span class="bold">PMID: </span><a href="/pubmed/36266132" target="_blank">36266132</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33112424">Physical activity interventions for people with congenital heart disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Williams CA,
Wadey C,
Pieles G,
Stuart G,
Taylor RS,
Long L</span><br />
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
2020 Oct 28;10(10):CD013400.
doi: 10.1002/14651858.CD013400.pub2.
<span class="bold">PMID: </span><a href="/pubmed/33112424" target="_blank">33112424</a><a href="/pmc/articles/PMC8490972" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29067961">Genetic and Clinical Advances of Congenital Muscular Dystrophy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fu XN,
Xiong H</span><br />
<span class="medgenPMjournal">Chin Med J (Engl)</span>
2017 Nov 5;130(21):2624-2631.
doi: 10.4103/0366-6999.217091.
<span class="bold">PMID: </span><a href="/pubmed/29067961" target="_blank">29067961</a><a href="/pmc/articles/PMC5678264" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20033223">Hypokalemic rhabdomyolysis in congenital tubular disorders: a case series and a systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">von Vigier RO,
Ortisi MT,
La Manna A,
Bianchetti MG,
Bettinelli A</span><br />
<span class="medgenPMjournal">Pediatr Nephrol</span>
2010 May;25(5):861-6.
Epub 2009 Dec 22
doi: 10.1007/s00467-009-1388-2.
<span class="bold">PMID: </span><a href="/pubmed/20033223" target="_blank">20033223</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Compton-North%20congenital%20myopathy%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (31)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C2675527%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (15)</a></li>
<li><a href="/gtr/tests?term=C2675527%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (21)</a></li>
<li><a href="/gtr/tests?term=C2675527%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (4)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C2675527%5bDISCUI%5d" target="_blank">See all (24)</a></total></li>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=612540" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=210163" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Compton-North%20congenital%20myopathy" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(compton-north%20congenital%20myopathy)%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><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Compton-North%20congenital%20myopathy%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. 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.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=600016" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=1272[geneid]" target="_blank">View CNTN1 variations in ClinVar</a></li><li><a href="/nuccore/237820673" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=612540" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Myopathy%2C+congenital%2C+compton-north/8949" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/congenital_myopathy_12" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&amp;query=Compton-North%20congenital%20myopathy" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/17111/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&amp;from_uid=393406" ref="log$=recordlinks">Gene</a>
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C2675527[DISCUI]" ref="log$=recordlinks">GTR</a>
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C2675527[DISCUI]&amp;test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&amp;from_uid=393406" ref="log$=recordlinks">PMC Articles</a>
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