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<meta name="keywords" content="C5436656, disease or syndrome, mfm10, myofibrillar myopathy 10, svil, 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="Myofibrillar myopathy-10 (MFM10) is an autosomal recessive structural muscle disorder characterized by onset of muscle pain, cramping, and exercise fatigue in the first or second decades of life. Some patients have mild contractures of the large joints apparent in early childhood. Affected individuals have a characteristic appearance of a thick neck and prominent shoulder girdle with anteverted shoulders and a tendency toward kyphosis. There is no apparent muscle weakness, but some affected individuals show progressive muscle rigidity leading to limited mobility. There is variable cardiac involvement, ranging from chest pain with left ventricular hypertrophy to subclinical signs such as abnormal EKG or elevated cardiac enzymes. Skeletal muscle biopsy shows structural abnormalities with myofibrillar disorganization and accumulation of autophagocytic vacuoles (summary by Hedberg-Oldfors et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1769385
|
||
ConceptID=C5436656
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Myofibrillar myopathy 10<span class="h1sub">(MFM10)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1769385</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."><span class="highlight" style="background-color:">C5436656</span></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>MFM10; MYOFIBRILLAR MYOPATHY 10</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="SVIL - ID: 6840 - NCBI Gene" href="/gene/6840" class="medgenPMinfo">SVIL</a> (10p11.23)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0033620" target="_blank">MONDO:0033620</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/619040" target="_blank">619040</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">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Myofibrillar myopathy-10 (MFM10) is an autosomal recessive structural muscle disorder characterized by onset of muscle pain, cramping, and exercise fatigue in the first or second decades of life. Some patients have mild contractures of the large joints apparent in early childhood. Affected individuals have a characteristic appearance of a thick neck and prominent shoulder girdle with anteverted shoulders and a tendency toward kyphosis. There is no apparent muscle weakness, but some affected individuals show progressive muscle rigidity leading to limited mobility. There is variable cardiac involvement, ranging from chest pain with left ventricular hypertrophy to subclinical signs such as abnormal EKG or elevated cardiac enzymes. Skeletal muscle biopsy shows structural abnormalities with myofibrillar disorganization and accumulation of autophagocytic vacuoles (summary by Hedberg-Oldfors et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419). [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_68541"><div><strong>Myalgia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68541</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.">C0231528</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pain in muscle.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68541">Feature record</a> | <a href="/medgen?term=%22Myalgia%22%5BClinical%20Features%5D%20OR%2068541%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_752115"><div><strong>Postexertional symptom exacerbation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>752115</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.">C2732413</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Post-exertional symptom exacerbation (PESE), also referred to as post-exertional malaise (PEM), is defined as the worsening of symptoms that can follow minimal cognitive, physical, emotional, or social activity, or activity that could previously be tolerated. Symptoms typically worsen 12 to 72 hours after activity and can last for days or even weeks, sometimes leading to a relapse.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/752115">Feature record</a> | <a href="/medgen?term=%22Postexertional%20symptom%20exacerbation%22%5BClinical%20Features%5D%20OR%20752115%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98042"><div><strong>Knee flexion contracture</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98042</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.">C0409355</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98042">Feature record</a> | <a href="/medgen?term=%22Knee%20flexion%20contracture%22%5BClinical%20Features%5D%20OR%2098042%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_332440"><div><strong>Ankle flexion contracture</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332440</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.">C1837407</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332440">Feature record</a> | <a href="/medgen?term=%22Ankle%20flexion%20contracture%22%5BClinical%20Features%5D%20OR%20332440%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_374376"><div><strong>Sandal gap</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374376</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.">C1840069</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A widely spaced gap between the first toe (the great toe) and the second toe.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/374376">Feature record</a> | <a href="/medgen?term=%22Sandal%20gap%22%5BClinical%20Features%5D%20OR%20374376%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57442"><div><strong>Left ventricular hypertrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57442</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.">C0149721</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Enlargement or increased size of the heart left ventricle.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57442">Feature record</a> | <a href="/medgen?term=%22Left%20ventricular%20hypertrophy%22%5BClinical%20Features%5D%20OR%2057442%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_909971"><div><strong>Increased QRS voltage</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>909971</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.">C1112650</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Elevation of the voltage (height) of the QRS complex. There are several criteria in use, but the most common is the Sokolov-Lyon criterion (S wave depth in V1 + tallest R wave height in V5-V6 greater than 35 mm).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/909971">Feature record</a> | <a href="/medgen?term=%22Increased%20QRS%20voltage%22%5BClinical%20Features%5D%20OR%20909971%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_294666"><div><strong>Prolonged QTc interval</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>294666</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.">C1560305</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/294666">Feature record</a> | <a href="/medgen?term=%22Prolonged%20QTc%20interval%22%5BClinical%20Features%5D%20OR%20294666%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1636885"><div><strong>Increased circulating troponin I concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1636885</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.">C4703660</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased concentration of tropnin I in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1636885">Feature record</a> | <a href="/medgen?term=%22Increased%20circulating%20troponin%20I%20concentration%22%5BClinical%20Features%5D%20OR%201636885%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_52431"><div><strong>Muscle spasm</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52431</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.">C0037763</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Sudden and involuntary contractions of one or more muscles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52431">Feature record</a> | <a href="/medgen?term=%22Muscle%20spasm%22%5BClinical%20Features%5D%20OR%2052431%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) 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_98367"><div><strong>Elbow flexion contracture</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98367</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.">C0409338</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Acquired Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Elbow%20flexion%20contracture%22%5BClinical%20Features%5D%20OR%2098367%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_148293"><div><strong>Percussion myotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>148293</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.">C0751359</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner's finger, a rubber percussion hammer, or a similar object).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/148293">Feature record</a> | <a href="/medgen?term=%22Percussion%20myotonia%22%5BClinical%20Features%5D%20OR%20148293%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_387792"><div><strong>Flexion contracture of finger</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>387792</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.">C1857304</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Chronic loss of joint motion in a finger due to structural changes in non-bony tissue.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/387792">Feature record</a> | <a href="/medgen?term=%22Flexion%20contracture%20of%20finger%22%5BClinical%20Features%5D%20OR%20387792%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_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_98316"><div><strong>Mandibular prognathia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98316</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.">C0399526</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal prominence of the chin related to increased length of the mandible.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98316">Feature record</a> | <a href="/medgen?term=%22Mandibular%20prognathia%22%5BClinical%20Features%5D%20OR%2098316%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_344099"><div><strong>Broad neck</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344099</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.">C1853638</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased side-to-side width of the neck.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/344099">Feature record</a> | <a href="/medgen?term=%22Broad%20neck%22%5BClinical%20Features%5D%20OR%20344099%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_344099" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Broad neck</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98316" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mandibular prognathia</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_332440" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ankle flexion contracture</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98042" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Knee flexion contracture</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_374376" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sandal gap</a></span></li></ul></li><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_69128" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating creatine kinase concentration</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1636885" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased circulating troponin I concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_909971" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased QRS voltage</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57442" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Left ventricular hypertrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_294666" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prolonged QTc interval</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_98367" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elbow flexion 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_387792" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Flexion contracture of finger</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_52431" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscle spasm</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_148293" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Percussion myotonia</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_68541" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myalgia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_752115" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Postexertional symptom exacerbation</a></span></li></ul></li></ul></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/27638134">Myofibrillar and distal myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Palmio J,
|
||
Udd B</span><br />
|
||
<span class="medgenPMjournal">Rev Neurol (Paris)</span>
|
||
2016 Oct;172(10):587-593.
|
||
Epub 2016 Sep 13
|
||
doi: 10.1016/j.neurol.2016.07.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27638134" target="_blank">27638134</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27618136">Mitochondrial dysfunction in myofibrillar myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vincent AE,
|
||
Grady JP,
|
||
Rocha MC,
|
||
Alston CL,
|
||
Rygiel KA,
|
||
Barresi R,
|
||
Taylor RW,
|
||
Turnbull DM</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2016 Oct;26(10):691-701.
|
||
Epub 2016 Aug 10
|
||
doi: 10.1016/j.nmd.2016.08.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27618136" target="_blank">27618136</a><a href="/pmc/articles/PMC5066370" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26342832">Myofibrillar myopathies: State of the art, present and future challenges.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Béhin A,
|
||
Salort-Campana E,
|
||
Wahbi K,
|
||
Richard P,
|
||
Carlier RY,
|
||
Carlier P,
|
||
Laforêt P,
|
||
Stojkovic T,
|
||
Maisonobe T,
|
||
Verschueren A,
|
||
Franques J,
|
||
Attarian S,
|
||
Maues de Paula A,
|
||
Figarella-Branger D,
|
||
Bécane HM,
|
||
Nelson I,
|
||
Duboc D,
|
||
Bonne G,
|
||
Vicart P,
|
||
Udd B,
|
||
Romero N,
|
||
Pouget J,
|
||
Eymard B</span><br />
|
||
<span class="medgenPMjournal">Rev Neurol (Paris)</span>
|
||
2015 Oct;171(10):715-29.
|
||
Epub 2015 Sep 3
|
||
doi: 10.1016/j.neurol.2015.06.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26342832" target="_blank">26342832</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23995273">Myofibrillar myopathies: new developments.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Olivé M,
|
||
Kley RA,
|
||
Goldfarb LG</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Neurol</span>
|
||
2013 Oct;26(5):527-35.
|
||
doi: 10.1097/WCO.0b013e328364d6b1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23995273" target="_blank">23995273</a><a href="/pmc/articles/PMC5127196" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21676617">Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Olivé M,
|
||
Odgerel Z,
|
||
Martínez A,
|
||
Poza JJ,
|
||
Bragado FG,
|
||
Zabalza RJ,
|
||
Jericó I,
|
||
Gonzalez-Mera L,
|
||
Shatunov A,
|
||
Lee HS,
|
||
Armstrong J,
|
||
Maraví E,
|
||
Arroyo MR,
|
||
Pascual-Calvet J,
|
||
Navarro C,
|
||
Paradas C,
|
||
Huerta M,
|
||
Marquez F,
|
||
Rivas EG,
|
||
Pou A,
|
||
Ferrer I,
|
||
Goldfarb LG</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2011 Aug;21(8):533-42.
|
||
Epub 2011 Jun 14
|
||
doi: 10.1016/j.nmd.2011.05.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21676617" target="_blank">21676617</a><a href="/pmc/articles/PMC5148150" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myofibrillar%20myopathy%2010%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 (12)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34670883">A Japanese Patient with Hereditary Myopathy with Early Respiratory Failure Due to the p.P31732L Mutation of Titin.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sano Y,
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Ota S,
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Oishi M,
|
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Honda M,
|
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Omoto M,
|
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Kawai M,
|
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Okubo M,
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Nishino I,
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<span class="medgenPMjournal">Intern Med</span>
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2022 May 15;61(10):1587-1592.
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Epub 2021 Oct 19
|
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doi: 10.2169/internalmedicine.7733-21.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34670883" target="_blank">34670883</a><a href="/pmc/articles/PMC9177377" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34986963">BAG3-Related Myofibrillar Myopathy Presenting as Hypercapnia: A Case Report and Literature Review.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Xu Y,
|
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Liu SX,
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Xu WB,
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Luo JM,
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Niu JW,
|
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Liu Z,
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Gao JM,
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Wang JL,
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Dai Y,
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Wang MZ</span><br />
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<span class="medgenPMjournal">Chin Med Sci J</span>
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2021 Dec 31;36(4):265-278.
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doi: 10.24920/003883.
|
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<span class="bold">PMID: </span><a href="/pubmed/34986963" target="_blank">34986963</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/33367878">Polymyositis: is there anything left? A retrospective diagnostic review from a tertiary myositis centre.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Loarce-Martos J,
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Lilleker JB,
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Parker M,
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McHugh N,
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Chinoy H</span><br />
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<span class="medgenPMjournal">Rheumatology (Oxford)</span>
|
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2021 Jul 1;60(7):3398-3403.
|
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doi: 10.1093/rheumatology/keaa801.
|
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<span class="bold">PMID: </span><a href="/pubmed/33367878" target="_blank">33367878</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/26342832">Myofibrillar myopathies: State of the art, present and future challenges.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Béhin A,
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Salort-Campana E,
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Wahbi K,
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Richard P,
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Carlier RY,
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Carlier P,
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Laforêt P,
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Stojkovic T,
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Verschueren A,
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Franques J,
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Attarian S,
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Maues de Paula A,
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Figarella-Branger D,
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Bécane HM,
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Nelson I,
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Duboc D,
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Bonne G,
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Vicart P,
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<span class="bold">PMID: </span><a href="/pubmed/26342832" target="_blank">26342832</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/23995273">Myofibrillar myopathies: new developments.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Olivé M,
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Kley RA,
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Goldfarb LG</span><br />
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<span class="medgenPMjournal">Curr Opin Neurol</span>
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2013 Oct;26(5):527-35.
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<span class="bold">PMID: </span><a href="/pubmed/23995273" target="_blank">23995273</a><a href="/pmc/articles/PMC5127196" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myofibrillar%20myopathy%2010%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (18)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33367878">Polymyositis: is there anything left? A retrospective diagnostic review from a tertiary myositis centre.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Loarce-Martos J,
|
||
Lilleker JB,
|
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Parker M,
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McHugh N,
|
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Chinoy H</span><br />
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<span class="medgenPMjournal">Rheumatology (Oxford)</span>
|
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2021 Jul 1;60(7):3398-3403.
|
||
doi: 10.1093/rheumatology/keaa801.
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<span class="bold">PMID: </span><a href="/pubmed/33367878" target="_blank">33367878</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/23639843">Differential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Maerkens A,
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Kley RA,
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Olivé M,
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Theis V,
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van der Ven PF,
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Reimann J,
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Milting H,
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Schreiner A,
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Uszkoreit J,
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Eisenacher M,
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Barkovits K,
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Güttsches AK,
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Tonillo J,
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Kuhlmann K,
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Meyer HE,
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Schröder R,
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Tegenthoff M,
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Fürst DO,
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Müller T,
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Goldfarb LG,
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2013 Sep 2;90:14-27.
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<span class="bold">PMID: </span><a href="/pubmed/23639843" target="_blank">23639843</a><a href="/pmc/articles/PMC5120880" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myofibrillar%20myopathy%2010%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 (2)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34670883">A Japanese Patient with Hereditary Myopathy with Early Respiratory Failure Due to the p.P31732L Mutation of Titin.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sano Y,
|
||
Ota S,
|
||
Oishi M,
|
||
Honda M,
|
||
Omoto M,
|
||
Kawai M,
|
||
Okubo M,
|
||
Nishino I,
|
||
Kanda T</span><br />
|
||
<span class="medgenPMjournal">Intern Med</span>
|
||
2022 May 15;61(10):1587-1592.
|
||
Epub 2021 Oct 19
|
||
doi: 10.2169/internalmedicine.7733-21.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34670883" target="_blank">34670883</a><a href="/pmc/articles/PMC9177377" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34986963">BAG3-Related Myofibrillar Myopathy Presenting as Hypercapnia: A Case Report and Literature Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xu Y,
|
||
Liu SX,
|
||
Xu WB,
|
||
Luo JM,
|
||
Niu JW,
|
||
Liu Z,
|
||
Gao JM,
|
||
Wang JL,
|
||
Dai Y,
|
||
Wang MZ</span><br />
|
||
<span class="medgenPMjournal">Chin Med Sci J</span>
|
||
2021 Dec 31;36(4):265-278.
|
||
doi: 10.24920/003883.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34986963" target="_blank">34986963</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32005492">Myopathies presenting with head drop: Clinical spectrum and treatment outcomes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alhammad RM,
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Naddaf E</span><br />
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<span class="medgenPMjournal">Neuromuscul Disord</span>
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2020 Feb;30(2):128-136.
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Epub 2019 Dec 12
|
||
doi: 10.1016/j.nmd.2019.12.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32005492" target="_blank">32005492</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30061062">BAG3 myopathy is not always associated with cardiomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Andersen AG,
|
||
Fornander F,
|
||
Schrøder HD,
|
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Krag T,
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Straub V,
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Duno M,
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Vissing J</span><br />
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<span class="medgenPMjournal">Neuromuscul Disord</span>
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2018 Sep;28(9):798-801.
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|
||
doi: 10.1016/j.nmd.2018.06.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30061062" target="_blank">30061062</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18055494">Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kley RA,
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Hellenbroich Y,
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van der Ven PF,
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Fürst DO,
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Huebner A,
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Bruchertseifer V,
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Peters SA,
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Heyer CM,
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Kirschner J,
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Schröder R,
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Fischer D,
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Müller K,
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Tolksdorf K,
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Eger K,
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Germing A,
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Brodherr T,
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Reum C,
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Walter MC,
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Lochmüller H,
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Ketelsen UP,
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<span class="bold">PMID: </span><a href="/pubmed/18055494" target="_blank">18055494</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myofibrillar%20myopathy%2010%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 (9)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38167524">Critical contribution of mitochondria in the development of cardiomyopathy linked to desmin mutation.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Hovhannisyan Y,
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Li Z,
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Callon D,
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Suspène R,
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Batoumeni V,
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Canette A,
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Blanc J,
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Hocini H,
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Lefebvre C,
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El-Jahrani N,
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Kitsara M,
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L'honoré A,
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Kordeli E,
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Fornes P,
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Concordet JP,
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Tachdjian G,
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Rodriguez AM,
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Vartanian JP,
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Béhin A,
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Wahbi K,
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Joanne P,
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<span class="bold">PMID: </span><a href="/pubmed/38167524" target="_blank">38167524</a><a href="/pmc/articles/PMC10763022" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34986963">BAG3-Related Myofibrillar Myopathy Presenting as Hypercapnia: A Case Report and Literature Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xu Y,
|
||
Liu SX,
|
||
Xu WB,
|
||
Luo JM,
|
||
Niu JW,
|
||
Liu Z,
|
||
Gao JM,
|
||
Wang JL,
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||
Dai Y,
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||
Wang MZ</span><br />
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<span class="medgenPMjournal">Chin Med Sci J</span>
|
||
2021 Dec 31;36(4):265-278.
|
||
doi: 10.24920/003883.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34986963" target="_blank">34986963</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30061062">BAG3 myopathy is not always associated with cardiomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Andersen AG,
|
||
Fornander F,
|
||
Schrøder HD,
|
||
Krag T,
|
||
Straub V,
|
||
Duno M,
|
||
Vissing J</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2018 Sep;28(9):798-801.
|
||
Epub 2018 Jul 5
|
||
doi: 10.1016/j.nmd.2018.06.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30061062" target="_blank">30061062</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23109048">Filamin C-related myopathies: pathology and mechanisms.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fürst DO,
|
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Goldfarb LG,
|
||
Kley RA,
|
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Vorgerd M,
|
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Olivé M,
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van der Ven PF</span><br />
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<span class="medgenPMjournal">Acta Neuropathol</span>
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2013 Jan;125(1):33-46.
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Epub 2012 Oct 30
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doi: 10.1007/s00401-012-1054-9.
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<span class="bold">PMID: </span><a href="/pubmed/23109048" target="_blank">23109048</a><a href="/pmc/articles/PMC5127197" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8627346">Myofibrillar myopathy with abnormal foci of desmin positivity. I. Light and electron microscopy analysis of 10 cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nakano S,
|
||
Engel AG,
|
||
Waclawik AJ,
|
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Emslie-Smith AM,
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Busis NA</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/8627346" target="_blank">8627346</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myofibrillar%20myopathy%2010%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 (11)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
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|
||
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|
||
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|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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|
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|
||
|
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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>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=619040" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Myofibrillar%20myopathy%2010" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=604126" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=6840[geneid]" target="_blank">View SVIL variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=619040" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<h3>Reviews</h3>
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<a href="/pubmed/clinical?term=Myofibrillar%20myopathy%2010" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<li>
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<a href="/pubmed?term=Myofibrillar%20myopathy%2010%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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