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<meta name="keywords" content="C4721886, disease or syndrome, late-onset distal myopathy, markesbery-griggs type, ldb3, ldb3 myofibrillar myopathy (disease), markesbery-griggs distal myopathy, mfm4, myofibrillar myopathy (disease) caused by mutation in ldb3, myofibrillar myopathy 4, myofibrillar myopathy type 4, myofibrillar myopathy, zasp-related, myopathy, myofibrillar, 4, myopathy, myofibrillar, type 4, zasp-related myofibrillar myopathy, zaspopathy, zaspopathy (type), 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-4 (MFM4) is an autosomal dominant disorder characterized by adult-onset distal muscle weakness primarily affecting the lower limbs at onset. Affected individuals usually present with gait difficulties in their forties, followed by slow progression with eventual involvement of the hands and proximal muscles of the lower limbs. Rare patients may develop cardiomyopathy. Skeletal muscle biopsy shows myopathic changes with myofibrillar changes (Selcen and Engel, 2005; Griggs et al., 2007). For a 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=1648314
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ConceptID=C4721886
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Myofibrillar myopathy 4<span class="h1sub">(MFM4)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648314</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.">C4721886</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>Myofibrillar myopathy, ZASP-related; Zaspopathy; Zaspopathy (type)</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="LDB3 - ID: 11155 - NCBI Gene" href="/gene/11155" class="medgenPMinfo">LDB3</a> (10q23.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0012277" target="_blank">MONDO:0012277</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/609452" target="_blank">609452</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98912">ORPHA98912</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-4 (MFM4) is an autosomal dominant disorder characterized by adult-onset distal muscle weakness primarily affecting the lower limbs at onset. Affected individuals usually present with gait difficulties in their forties, followed by slow progression with eventual involvement of the hands and proximal muscles of the lower limbs. Rare patients may develop cardiomyopathy. Skeletal muscle biopsy shows myopathic changes with myofibrillar changes (Selcen and Engel, 2005; Griggs et al., 2007). For a 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>
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||
|
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<div class="portlet mgSection" id="ID_117">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Myofibrillar myopathy is part of a group of disorders called muscular dystrophies that affect muscle function and cause weakness. Myofibrillar myopathy primarily affects skeletal muscles, which are muscles that the body uses for movement. In some cases, the heart (cardiac) muscle is also affected.<br /><br />The signs and symptoms of myofibrillar myopathy vary widely among affected individuals, typically depending on the condition's genetic cause. Most people with this disorder begin to develop muscle weakness (myopathy) in mid-adulthood. However, features of this condition can appear anytime between infancy and late adulthood. Muscle weakness most often begins in the hands and feet (distal muscles), but some people first experience weakness in the muscles near the center of the body (proximal muscles). Other affected individuals develop muscle weakness throughout their body. Facial muscle weakness can cause swallowing and speech difficulties. Muscle weakness worsens over time.<br /><br />Other signs and symptoms of myofibrillar myopathy can include a weakened heart muscle (cardiomyopathy), muscle pain (myalgia), loss of sensation and weakness in the limbs (peripheral neuropathy), and respiratory failure. Individuals with this condition may have skeletal problems including joint stiffness (contractures) and abnormal side-to-side curvature of the spine (scoliosis). Rarely, people with this condition develop clouding of the lens of the eyes (cataracts). <a target="_blank" href="https://medlineplus.gov/genetics/condition/myofibrillar-myopathy">https://medlineplus.gov/genetics/condition/myofibrillar-myopathy</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_371881"><div><strong>Hyporeflexia of lower limbs</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>371881</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.">C1834696</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/371881">Feature record</a> | <a href="/medgen?term=%22Hyporeflexia%20of%20lower%20limbs%22%5BClinical%20Features%5D%20OR%20371881%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_209232"><div><strong>Cardiomyopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>209232</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.">C0878544</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/209232">Feature record</a> | <a href="/medgen?term=%22Cardiomyopathy%22%5BClinical%20Features%5D%20OR%20209232%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57502"><div><strong>Polyneuropathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57502</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.">C0152025</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A generalized disorder of peripheral nerves.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57502">Feature record</a> | <a href="/medgen?term=%22Polyneuropathy%22%5BClinical%20Features%5D%20OR%2057502%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_68704"><div><strong>Progressive muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68704</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.">C0240421</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68704">Feature record</a> | <a href="/medgen?term=%22Progressive%20muscle%20weakness%22%5BClinical%20Features%5D%20OR%2068704%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107466"><div><strong>Autophagic vacuoles</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107466</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.">C0544966</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The lysosomal-vacuolar pathway has a role in the controlled intracellular digestion of macromolecules such as protein complexes and organelles. This feature refers to the presence of an abnormally increased number of autophagic vacuoles in muscle tissue.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107466">Feature record</a> | <a href="/medgen?term=%22Autophagic%20vacuoles%22%5BClinical%20Features%5D%20OR%20107466%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_322813"><div><strong>Muscle fiber splitting</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322813</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1836057</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/322813">Feature record</a> | <a href="/medgen?term=%22Muscle%20fiber%20splitting%22%5BClinical%20Features%5D%20OR%20322813%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_322841"><div><strong>Progressive proximal muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322841</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.">C1836156</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lack of strength of the proximal muscles that becomes progressively more severe.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/322841">Feature record</a> | <a href="/medgen?term=%22Progressive%20proximal%20muscle%20weakness%22%5BClinical%20Features%5D%20OR%20322841%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_324556"><div><strong>Progressive distal muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324556</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.">C1836609</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Progressively reduced strength of the distal musculature.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324556">Feature record</a> | <a href="/medgen?term=%22Progressive%20distal%20muscle%20weakness%22%5BClinical%20Features%5D%20OR%20324556%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_395532"><div><strong>Myofibrillar myopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395532</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.">C2678065</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Other signs and symptoms of myofibrillar myopathy can include a weakened heart muscle (cardiomyopathy), muscle pain (myalgia), loss of sensation and weakness in the limbs (peripheral neuropathy), and respiratory failure. Individuals with this condition may have skeletal problems including joint stiffness (contractures) and abnormal side-to-side curvature of the spine (scoliosis). Rarely, people with this condition develop clouding of the lens of the eyes (cataracts).\n\nThe signs and symptoms of myofibrillar myopathy vary widely among affected individuals, typically depending on the condition's genetic cause. Most people with this disorder begin to develop muscle weakness (myopathy) in mid-adulthood. However, features of this condition can appear anytime between infancy and late adulthood. Muscle weakness most often begins in the hands and feet (distal muscles), but some people first experience weakness in the muscles near the center of the body (proximal muscles). Other affected individuals develop muscle weakness throughout their body. Facial muscle weakness can cause swallowing and speech difficulties. Muscle weakness worsens over time.\n\nMyofibrillar myopathy is part of a group of disorders called muscular dystrophies that affect muscle function and cause weakness. Myofibrillar myopathy primarily affects skeletal muscles, which are muscles that the body uses for movement. In some cases, the heart (cardiac) muscle is also affected.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/395532">Feature record</a> | <a href="/medgen?term=%22Myofibrillar%20myopathy%22%5BClinical%20Features%5D%20OR%20395532%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_867363"><div><strong>EMG: neuropathic changes</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867363</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.">C4021727</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867363">Feature record</a> | <a href="/medgen?term=%22EMG%3A%20neuropathic%20changes%22%5BClinical%20Features%5D%20OR%20867363%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_69128"><div><strong>Elevated circulating creatine kinase concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>69128</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0241005</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/69128">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20creatine%20kinase%20concentration%22%5BClinical%20Features%5D%20OR%2069128%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_371881" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyporeflexia of lower limbs</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_209232" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiomyopathy</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_107466" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autophagic vacuoles</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_867363" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">EMG: neuropathic changes</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_322813" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscle fiber splitting</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_395532" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myofibrillar myopathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_324556" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive distal muscle weakness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68704" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive muscle weakness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_322841" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive proximal muscle weakness</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_57502" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polyneuropathy</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></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2678065[DISCUI]&test_type=Clinical" ref="ncbi_uid=395532">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=395532" ref="ncbi_uid=395532">V</a></span></span><span class="TLline"><a href="/medgen/395532" ref="tree=GTR&ncbi_uid=395532&link_uid=395532" title="View MedGen record for 'Myofibrillar myopathy'">Myofibrillar myopathy</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832370[DISCUI]&test_type=Clinical" ref="ncbi_uid=330449">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=330449" target="_blank" href="/omim/125660">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1309/" ref="ncbi_uid=330449">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=330449" ref="ncbi_uid=330449">V</a></span></span><span class="TLline"><a href="/medgen/330449" ref="tree=GTR&ncbi_uid=330449&link_uid=330449" title="View MedGen record for 'Desmin-related myofibrillar myopathy'">Desmin-related myofibrillar myopathy</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1837317[DISCUI]&test_type=Clinical" ref="ncbi_uid=324735">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=324735" target="_blank" href="/omim/123590">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=324735" ref="ncbi_uid=324735">V</a></span></span><span class="TLline"><a href="/medgen/324735" ref="tree=GTR&ncbi_uid=324735&link_uid=324735" title="View MedGen record for 'Myofibrillar myopathy 2'">Myofibrillar myopathy 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3714934[DISCUI]&test_type=Clinical" ref="ncbi_uid=811509">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=811509" target="_blank" href="/omim/604103">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=811509" ref="ncbi_uid=811509">V</a></span></span><span class="TLline"><a href="/medgen/811509" ref="tree=GTR&ncbi_uid=811509&link_uid=811509" title="View MedGen record for 'Myofibrillar myopathy 3'">Myofibrillar myopathy 3</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4721886[DISCUI]&test_type=Clinical" ref="ncbi_uid=1648314">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1648314" target="_blank" href="/omim/605906">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1648314" ref="ncbi_uid=1648314">V</a></span></span><span class="TLline">Myofibrillar myopathy 4</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1836050[DISCUI]&test_type=Clinical" ref="ncbi_uid=372186">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=372186" target="_blank" href="/omim/102565">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=372186" ref="ncbi_uid=372186">V</a></span></span><span class="TLline"><a href="/medgen/372186" ref="tree=GTR&ncbi_uid=372186&link_uid=372186" title="View MedGen record for 'Myofibrillar myopathy 5'">Myofibrillar myopathy 5</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2751831[DISCUI]&test_type=Clinical" ref="ncbi_uid=414119">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=414119" target="_blank" href="/omim/603883">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=414119" ref="ncbi_uid=414119">V</a></span></span><span class="TLline"><a href="/medgen/414119" ref="tree=GTR&ncbi_uid=414119&link_uid=414119" title="View MedGen record for 'Myofibrillar myopathy 6'">Myofibrillar myopathy 6</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1826097" ref="tree=MeSH" title="MedGen record for Autosomal dominant distal myopathy">Autosomal dominant distal myopathy</a></span><ul><li><span class="matched_ds">Myofibrillar myopathy 4</span></li></ul></li></ul></div></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/32419263">Differential diagnosis of vacuolar myopathies in the NGS era.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mair D,
|
||
Biskup S,
|
||
Kress W,
|
||
Abicht A,
|
||
Brück W,
|
||
Zechel S,
|
||
Knop KC,
|
||
Koenig FB,
|
||
Tey S,
|
||
Nikolin S,
|
||
Eggermann K,
|
||
Kurth I,
|
||
Ferbert A,
|
||
Weis J</span><br />
|
||
<span class="medgenPMjournal">Brain Pathol</span>
|
||
2020 Sep;30(5):877-896.
|
||
Epub 2020 Jun 15
|
||
doi: 10.1111/bpa.12864.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32419263" target="_blank">32419263</a><a href="/pmc/articles/PMC8017999" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(myofibrillar%20myopathy%204)%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 (1)</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/39102614">Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillary and Distal Myopathies: Experience From the Italian Network.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bortolani S,
|
||
Savarese M,
|
||
Vattemi G,
|
||
Bonanno S,
|
||
Falzone YM,
|
||
Pugliese A,
|
||
Primiano G,
|
||
Sancricca C,
|
||
Lopergolo D,
|
||
Greco G,
|
||
Gemelli C,
|
||
Ravaglia S,
|
||
Bencivenga RP,
|
||
Velardo D,
|
||
Magri F,
|
||
Valentino ML,
|
||
Cheli M,
|
||
Torchia E,
|
||
Lucchini M,
|
||
Petrucci A,
|
||
Ricci G,
|
||
Garibaldi M,
|
||
Astrea G,
|
||
Rubegni A,
|
||
Angelini CI,
|
||
Ariatti A,
|
||
Santorelli FM,
|
||
Ruggieri A,
|
||
Antonini G,
|
||
Siciliano G,
|
||
Filosto M,
|
||
Mirabella M,
|
||
Liguori R,
|
||
Comi GP,
|
||
Ruggiero L,
|
||
Grandis M,
|
||
Massa R,
|
||
Malandrini A,
|
||
Servidei S,
|
||
Mongini TE,
|
||
Rodolico C,
|
||
Toscano A,
|
||
Previtali SC,
|
||
Tonin P,
|
||
Diaz-Manera J,
|
||
Monforte M,
|
||
Ricci E,
|
||
Maggi L,
|
||
Tasca G</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2024 Aug 27;103(4):e209697.
|
||
Epub 2024 Aug 5
|
||
doi: 10.1212/WNL.0000000000209697.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39102614" target="_blank">39102614</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30203143">Myofibrillar myopathy in the genomic context.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fichna JP,
|
||
Maruszak A,
|
||
Żekanowski C</span><br />
|
||
<span class="medgenPMjournal">J Appl Genet</span>
|
||
2018 Nov;59(4):431-439.
|
||
Epub 2018 Sep 10
|
||
doi: 10.1007/s13353-018-0463-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30203143" target="_blank">30203143</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29924655">Genetic Mutations and Demographic, Clinical, and Morphological Aspects of Myofibrillar Myopathy in a French Cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carvalho AAS,
|
||
Lacene E,
|
||
Brochier G,
|
||
Labasse C,
|
||
Madelaine A,
|
||
Silva VGD,
|
||
Corazzini R,
|
||
Papadopoulos K,
|
||
Behin A,
|
||
Laforêt P,
|
||
Stojkovic T,
|
||
Eymard B,
|
||
Fardeau M,
|
||
Romero N</span><br />
|
||
<span class="medgenPMjournal">Genet Test Mol Biomarkers</span>
|
||
2018 Jun;22(6):374-383.
|
||
doi: 10.1089/gtmb.2018.0004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29924655" target="_blank">29924655</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25264173">Biomechanical characterization of myofibrillar myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Winter L,
|
||
Goldmann WH</span><br />
|
||
<span class="medgenPMjournal">Cell Biol Int</span>
|
||
2015 Apr;39(4):361-3.
|
||
Epub 2014 Dec 3
|
||
doi: 10.1002/cbin.10384.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25264173" target="_blank">25264173</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22094483">Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Selcen D,
|
||
Bromberg MB,
|
||
Chin SS,
|
||
Engel AG</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2011 Nov 29;77(22):1951-9.
|
||
Epub 2011 Nov 16
|
||
doi: 10.1212/WNL.0b013e31823a0ebe.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22094483" target="_blank">22094483</a><a href="/pmc/articles/PMC3235356" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myofibrillar%20myopathy%204%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 (15)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39102614">Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillary and Distal Myopathies: Experience From the Italian Network.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bortolani S,
|
||
Savarese M,
|
||
Vattemi G,
|
||
Bonanno S,
|
||
Falzone YM,
|
||
Pugliese A,
|
||
Primiano G,
|
||
Sancricca C,
|
||
Lopergolo D,
|
||
Greco G,
|
||
Gemelli C,
|
||
Ravaglia S,
|
||
Bencivenga RP,
|
||
Velardo D,
|
||
Magri F,
|
||
Valentino ML,
|
||
Cheli M,
|
||
Torchia E,
|
||
Lucchini M,
|
||
Petrucci A,
|
||
Ricci G,
|
||
Garibaldi M,
|
||
Astrea G,
|
||
Rubegni A,
|
||
Angelini CI,
|
||
Ariatti A,
|
||
Santorelli FM,
|
||
Ruggieri A,
|
||
Antonini G,
|
||
Siciliano G,
|
||
Filosto M,
|
||
Mirabella M,
|
||
Liguori R,
|
||
Comi GP,
|
||
Ruggiero L,
|
||
Grandis M,
|
||
Massa R,
|
||
Malandrini A,
|
||
Servidei S,
|
||
Mongini TE,
|
||
Rodolico C,
|
||
Toscano A,
|
||
Previtali SC,
|
||
Tonin P,
|
||
Diaz-Manera J,
|
||
Monforte M,
|
||
Ricci E,
|
||
Maggi L,
|
||
Tasca G</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2024 Aug 27;103(4):e209697.
|
||
Epub 2024 Aug 5
|
||
doi: 10.1212/WNL.0000000000209697.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39102614" target="_blank">39102614</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/33458580">Panorama of the distal myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Savarese M,
|
||
Sarparanta J,
|
||
Vihola A,
|
||
Jonson PH,
|
||
Johari M,
|
||
Rusanen S,
|
||
Hackman P,
|
||
Udd B</span><br />
|
||
<span class="medgenPMjournal">Acta Myol</span>
|
||
2020 Dec;39(4):245-265.
|
||
Epub 2020 Dec 1
|
||
doi: 10.36185/2532-1900-028.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33458580" target="_blank">33458580</a><a href="/pmc/articles/PMC7783427" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31803991">FHL1-mutated reducing body myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lim KY,
|
||
Kim HH,
|
||
Sung JJ,
|
||
Oh BM,
|
||
Kim K,
|
||
Park SH</span><br />
|
||
<span class="medgenPMjournal">Neuropathology</span>
|
||
2020 Apr;40(2):185-190.
|
||
Epub 2019 Dec 5
|
||
doi: 10.1111/neup.12619.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31803991" target="_blank">31803991</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30203143">Myofibrillar myopathy in the genomic context.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fichna JP,
|
||
Maruszak A,
|
||
Żekanowski C</span><br />
|
||
<span class="medgenPMjournal">J Appl Genet</span>
|
||
2018 Nov;59(4):431-439.
|
||
Epub 2018 Sep 10
|
||
doi: 10.1007/s13353-018-0463-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30203143" target="_blank">30203143</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myofibrillar%20myopathy%204%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 (26)</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,
|
||
Parker M,
|
||
McHugh N,
|
||
Chinoy H</span><br />
|
||
<span class="medgenPMjournal">Rheumatology (Oxford)</span>
|
||
2021 Jul 1;60(7):3398-3403.
|
||
doi: 10.1093/rheumatology/keaa801.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33367878" target="_blank">33367878</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myofibrillar%20myopathy%204%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 (1)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39102614">Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillary and Distal Myopathies: Experience From the Italian Network.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bortolani S,
|
||
Savarese M,
|
||
Vattemi G,
|
||
Bonanno S,
|
||
Falzone YM,
|
||
Pugliese A,
|
||
Primiano G,
|
||
Sancricca C,
|
||
Lopergolo D,
|
||
Greco G,
|
||
Gemelli C,
|
||
Ravaglia S,
|
||
Bencivenga RP,
|
||
Velardo D,
|
||
Magri F,
|
||
Valentino ML,
|
||
Cheli M,
|
||
Torchia E,
|
||
Lucchini M,
|
||
Petrucci A,
|
||
Ricci G,
|
||
Garibaldi M,
|
||
Astrea G,
|
||
Rubegni A,
|
||
Angelini CI,
|
||
Ariatti A,
|
||
Santorelli FM,
|
||
Ruggieri A,
|
||
Antonini G,
|
||
Siciliano G,
|
||
Filosto M,
|
||
Mirabella M,
|
||
Liguori R,
|
||
Comi GP,
|
||
Ruggiero L,
|
||
Grandis M,
|
||
Massa R,
|
||
Malandrini A,
|
||
Servidei S,
|
||
Mongini TE,
|
||
Rodolico C,
|
||
Toscano A,
|
||
Previtali SC,
|
||
Tonin P,
|
||
Diaz-Manera J,
|
||
Monforte M,
|
||
Ricci E,
|
||
Maggi L,
|
||
Tasca G</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2024 Aug 27;103(4):e209697.
|
||
Epub 2024 Aug 5
|
||
doi: 10.1212/WNL.0000000000209697.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39102614" target="_blank">39102614</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,
|
||
Naddaf E</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2020 Feb;30(2):128-136.
|
||
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/30203143">Myofibrillar myopathy in the genomic context.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fichna JP,
|
||
Maruszak A,
|
||
Żekanowski C</span><br />
|
||
<span class="medgenPMjournal">J Appl Genet</span>
|
||
2018 Nov;59(4):431-439.
|
||
Epub 2018 Sep 10
|
||
doi: 10.1007/s13353-018-0463-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30203143" target="_blank">30203143</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21361913">BAG3-related myofibrillar myopathy in a Chinese family.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee HC,
|
||
Cherk SW,
|
||
Chan SK,
|
||
Wong S,
|
||
Tong TW,
|
||
Ho WS,
|
||
Chan AY,
|
||
Lee KC,
|
||
Mak CM</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2012 Apr;81(4):394-8.
|
||
Epub 2011 Apr 4
|
||
doi: 10.1111/j.1399-0004.2011.01659.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21361913" target="_blank">21361913</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myofibrillar%20myopathy%204%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 (8)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38669730">Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Polavarapu K,
|
||
O'Neil D,
|
||
Thompson R,
|
||
Spendiff S,
|
||
Nandeesh B,
|
||
Vengalil S,
|
||
Huddar A,
|
||
Baskar D,
|
||
Arunachal G,
|
||
Kotambail A,
|
||
Bhatia S,
|
||
Tumulu SK,
|
||
Matalonga L,
|
||
Töpf A,
|
||
Laurie S,
|
||
Zeldin J,
|
||
Nashi S,
|
||
Unnikrishnan G,
|
||
Nalini A,
|
||
Lochmüller H</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2024 Jun;39:10-18.
|
||
Epub 2024 Mar 22
|
||
doi: 10.1016/j.nmd.2024.03.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38669730" target="_blank">38669730</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35047758">BAG3-related myofibrillar myopathy: a further observation with cardiomyopathy at onset in pediatric age.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Scarpini G,
|
||
Valentino ML,
|
||
Giannotta M,
|
||
Ragni L,
|
||
Torella A,
|
||
Columbaro M,
|
||
Nigro V,
|
||
Pini A</span><br />
|
||
<span class="medgenPMjournal">Acta Myol</span>
|
||
2021 Dec;40(4):177-183.
|
||
Epub 2021 Dec 31
|
||
doi: 10.36185/2532-1900-061.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35047758" target="_blank">35047758</a><a href="/pmc/articles/PMC8744013" 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/22349301">In vivo characterization of mutant myotilins.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Keduka E,
|
||
Hayashi YK,
|
||
Shalaby S,
|
||
Mitsuhashi H,
|
||
Noguchi S,
|
||
Nonaka I,
|
||
Nishino I</span><br />
|
||
<span class="medgenPMjournal">Am J Pathol</span>
|
||
2012 Apr;180(4):1570-80.
|
||
Epub 2012 Feb 18
|
||
doi: 10.1016/j.ajpath.2011.12.040.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22349301" target="_blank">22349301</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16076904">The Z-disc proteins myotilin and FATZ-1 interact with each other and are connected to the sarcolemma via muscle-specific filamins.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gontier Y,
|
||
Taivainen A,
|
||
Fontao L,
|
||
Sonnenberg A,
|
||
van der Flier A,
|
||
Carpen O,
|
||
Faulkner G,
|
||
Borradori L</span><br />
|
||
<span class="medgenPMjournal">J Cell Sci</span>
|
||
2005 Aug 15;118(Pt 16):3739-49.
|
||
Epub 2005 Aug 2
|
||
doi: 10.1242/jcs.02484.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16076904" target="_blank">16076904</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myofibrillar%20myopathy%204%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 (6)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4721886%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (38)</a></li>
|
||
<li><a href="/gtr/tests?term=C4721886%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C4721886%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C4721886%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (60)</a></li>
|
||
<li><a href="/gtr/tests?term=C4721886%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (10)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4721886%5bDISCUI%5d" target="_blank">See all (62)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=609452" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=98912" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Myofibrillar%20myopathy%204" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
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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=(myofibrillar%20myopathy%204)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
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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>
|
||
<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=605906" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=11155[geneid]" target="_blank">View LDB3 variations in ClinVar</a></li><li><a href="/nuccore/210032719" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=609452" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Myofibrillar+myopathy%2C+ZASP-related/8943" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/myopathy_myofibrillar_4" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Myofibrillar%20myopathy%204" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/myofibrillar-myopathy" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/1886/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
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|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Myofibrillar%20myopathy%204" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Myofibrillar%20myopathy%204%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
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|
||
<h3>Related information</h3>
|
||
</div>
|
||
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||
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|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=1648314" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=1648314" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4721886[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4721886[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=1648314" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
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|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=1648314" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=1648314" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=1648314" ref="log$=recordlinks">PubMed</a>
|
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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||
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|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=1648314" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
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|
||
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|
||
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|
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|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
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Clear
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Turn On
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