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<meta name="keywords" content="C2678065, alpha beta crystallinopathy (type), desmin related myopathy (former name), desmin storage myopathy (former name), desminopathy (type), disease or syndrome, filaminopathy (type), finding, myofibrillar changes, myofibrillar myopathies, myofibrillar myopathy, myofibrillar myopathy (disease), myotilinopathy (type), protein surplus myopathy (former name), 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="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." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=395532
|
||
ConceptID=C2678065
|
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-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Myofibrillar myopathy</div></h1><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>Disease or Syndrome; Finding; Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Myofibrillar Myopathies; Myofibrillar Myopathy</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Myofibrillar myopathy (699269005)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/11155">LDB3</a>, <a target="_blank" href="/gene/9531">BAG3</a>, <a target="_blank" href="/gene/9499">MYOT</a>, <a target="_blank" href="/gene/2318">FLNC</a>, <a target="_blank" href="/gene/1674">DES</a>, <a target="_blank" href="/gene/1410">CRYAB</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0003715">HP:0003715</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0018943" target="_blank">MONDO:0018943</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS601419" target="_blank">PS601419</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=593">ORPHA593</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">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).<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 />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. [from <a title="MedlinePlus Genetics" href="https://medlineplus.gov/genetics/" class="defSource" target="_blank">MedlinePlus Genetics</a>]</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="matched_ds"><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">Myofibrillar myopathy</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=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="TLclosed"><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"><a href="/medgen/1648314" ref="tree=GTR&ncbi_uid=1648314&link_uid=1648314" title="View MedGen record for 'Myofibrillar myopathy 4'">Myofibrillar myopathy 4</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=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/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/1763488" ref="tree=MeSH" title="MedGen record for Abnormality of the musculoskeletal system">Abnormality of the musculoskeletal system</a></span><ul><li><span class="TLline"><a href="/medgen/867380" ref="tree=MeSH" title="MedGen record for Abnormality of the musculature">Abnormality of the musculature</a></span><ul><li><span class="TLline"><a href="/medgen/868776" ref="tree=MeSH" title="MedGen record for Abnormal skeletal muscle morphology">Abnormal skeletal muscle morphology</a></span><ul><li><span class="TLline"><a href="/medgen/10135" ref="tree=MeSH" title="MedGen record for Myopathy">Myopathy</a></span><ul><li><span class="matched_ds">Myofibrillar myopathy</span><ul><li><span class="TLline"><a href="/medgen/1799560" ref="tree=MeSH" title="MedGen record for Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome">Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/199773" ref="tree=MeSH" title="MedGen record for Central core disease">Central core disease</a></span></li><li><span class="TLline"><a href="/medgen/330449" ref="tree=MeSH" title="MedGen record for Desmin-related myofibrillar myopathy">Desmin-related myofibrillar myopathy</a></span></li><li><span class="TLline"><a href="/medgen/1798876" ref="tree=MeSH" title="MedGen record for Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome">Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/324735" ref="tree=MeSH" title="MedGen record for Myofibrillar myopathy 2">Myofibrillar myopathy 2</a></span></li><li><span class="TLline"><a href="/medgen/811509" ref="tree=MeSH" title="MedGen record for Myofibrillar myopathy 3">Myofibrillar myopathy 3</a></span></li><li><span class="TLline"><a href="/medgen/1648314" ref="tree=MeSH" title="MedGen record for Myofibrillar myopathy 4">Myofibrillar myopathy 4</a></span></li><li><span class="TLline"><a href="/medgen/372186" ref="tree=MeSH" title="MedGen record for Myofibrillar myopathy 5">Myofibrillar myopathy 5</a></span></li><li><span class="TLline"><a href="/medgen/414119" ref="tree=MeSH" title="MedGen record for Myofibrillar myopathy 6">Myofibrillar myopathy 6</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
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<div class="divPopper rprt" id="rdis_372186"><div><strong>Myofibrillar myopathy 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>372186</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.">C1836050</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<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>
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<div class="spaceAbove nowrap">See: <a href="/medgen/372186">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_350930"><div><strong>Myopathy, myofibrillar, 9, with early respiratory failure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350930</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.">C1863599</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Hereditary myopathy with early respiratory failure (HMERF) is a slowly progressive myopathy that typically begins in the third to fifth decades of life. The usual presenting findings are gait disturbance relating to distal leg weakness or nocturnal respiratory symptoms due to respiratory muscle weakness. Weakness eventually generalizes and affects both proximal and distal muscles. Most affected individuals require walking aids within a few years of onset; some progress to wheelchair dependence and require nocturnal noninvasive ventilatory support about ten years after onset. The phenotype varies even among individuals within the same family: some remain ambulant until their 70s whereas others may require ventilator support in their 40s.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/350930">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_395530"><div><strong>X-linked scapuloperoneal muscular dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395530</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.">C2678061</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A rare, genetic, muscular dystrophy disease characterized by the co-occurrence of late onset scapular and peroneal muscle weakness, principally manifesting with distal lower limb and proximal upper limb weakness and scapular winging.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/395530">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_414119"><div><strong>Myofibrillar myopathy 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>414119</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.">C2751831</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Myofibrillar myopathy-6 (MFM6) is an autosomal dominant severe neuromuscular disorder characterized by onset in the first decade of progressive generalized and proximal muscle weakness, respiratory insufficiency, cardiomyopathy, and skeletal deformities related to muscle weakness. Most patients also have a motor or sensorimotor axonal peripheral neuropathy. Muscle biopsy shows fiber-type grouping, disruption of the Z lines, rimmed vacuoles, and filamentous inclusions, consistent with a myofibrillar myopathy. The disorder may cause severe disability by the second decade, leading to cardiac transplant, ventilation, and/or loss of ambulation (summary by Jaffer et al., 2012). For a phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy (MFM), see MFM1 (601419).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/414119">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_811509"><div><strong>Myofibrillar myopathy 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811509</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.">C3714934</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Myofibrillar myopathy refers to a genetically heterogeneous group of muscular disorders characterized by a pathologic morphologic pattern of myofibrillar degradation and abnormal accumulation of proteins involved with the sarcomeric Z disc (summary by Foroud et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/811509">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_815539"><div><strong>Nemaline myopathy 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815539</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.">C3809209</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Nemaline myopathy-8 is a severe autosomal recessive muscle disorder characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth. Most patients die in infancy. Skeletal muscle biopsy shows numerous small nemaline bodies, often with no normal myofibrils (summary by Ravenscroft et al., 2013). For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (161800).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/815539">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1648314"><div><strong>Myofibrillar myopathy 4</strong><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></div>
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<div class="spaceAbove">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).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1648314">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_811509" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myofibrillar myopathy 3</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648314" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myofibrillar myopathy 4</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_372186" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myofibrillar myopathy 5</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_414119" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myofibrillar myopathy 6</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_350930" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopathy, myofibrillar, 9, with early respiratory failure</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815539" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nemaline myopathy 8</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_395530" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked scapuloperoneal muscular dystrophy</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_105">
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<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>
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/35288976">Absence of myofibrillar myopathy in Quarter Horses with a histopathological diagnosis of type 2 polysaccharide storage myopathy and lack of association with commercial genetic tests.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Valberg SJ,
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Henry ML,
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Herrick KL,
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Velez-Irizarry D,
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Finno CJ,
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Petersen JL</span><br />
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<span class="medgenPMjournal">Equine Vet J</span>
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2023 Mar;55(2):230-238.
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Epub 2022 Apr 1
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doi: 10.1111/evj.13574.
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<span class="bold">PMID: </span><a href="/pubmed/35288976" target="_blank">35288976</a><a href="/pmc/articles/PMC10084132" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/32419263">Differential diagnosis of vacuolar myopathies in the NGS era.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mair D,
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Biskup S,
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Kress W,
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Abicht A,
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Brück W,
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Zechel S,
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Knop KC,
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Koenig FB,
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Tey S,
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Nikolin S,
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Eggermann K,
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Kurth I,
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Ferbert A,
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Weis J</span><br />
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<span class="medgenPMjournal">Brain Pathol</span>
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2020 Sep;30(5):877-896.
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Epub 2020 Jun 15
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doi: 10.1111/bpa.12864.
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<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=(%22myofibrillar%20myopathy%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (2)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32703474">Distal Myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Felice KJ</span><br />
|
||
<span class="medgenPMjournal">Neurol Clin</span>
|
||
2020 Aug;38(3):637-659.
|
||
Epub 2020 Jun 11
|
||
doi: 10.1016/j.ncl.2020.03.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32703474" target="_blank">32703474</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32112656">A mutation update for the FLNC gene in myopathies and cardiomyopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Verdonschot JAJ,
|
||
Vanhoutte EK,
|
||
Claes GRF,
|
||
Helderman-van den Enden ATJM,
|
||
Hoeijmakers JGJ,
|
||
Hellebrekers DMEI,
|
||
de Haan A,
|
||
Christiaans I,
|
||
Lekanne Deprez RH,
|
||
Boen HM,
|
||
van Craenenbroeck EM,
|
||
Loeys BL,
|
||
Hoedemaekers YM,
|
||
Marcelis C,
|
||
Kempers M,
|
||
Brusse E,
|
||
van Waning JI,
|
||
Baas AF,
|
||
Dooijes D,
|
||
Asselbergs FW,
|
||
Barge-Schaapveld DQCM,
|
||
Koopman P,
|
||
van den Wijngaard A,
|
||
Heymans SRB,
|
||
Krapels IPC,
|
||
Brunner HG</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2020 Jun;41(6):1091-1111.
|
||
Epub 2020 Mar 20
|
||
doi: 10.1002/humu.24004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32112656" target="_blank">32112656</a><a href="/pmc/articles/PMC7318287" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30171629">The unfolding spectrum of inherited distal myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Milone M,
|
||
Liewluck T</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2019 Mar;59(3):283-294.
|
||
Epub 2018 Nov 28
|
||
doi: 10.1002/mus.26332.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30171629" target="_blank">30171629</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29350766">Untangling the complexity of limb-girdle muscular dystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liewluck T,
|
||
Milone M</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2018 Aug;58(2):167-177.
|
||
Epub 2018 Feb 7
|
||
doi: 10.1002/mus.26077.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29350766" target="_blank">29350766</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21256014">Myofibrillar myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Selcen D</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2011 Mar;21(3):161-71.
|
||
Epub 2011 Jan 20
|
||
doi: 10.1016/j.nmd.2010.12.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21256014" target="_blank">21256014</a><a href="/pmc/articles/PMC3052736" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myofibrillar%20myopathy%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (71)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<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/32703474">Distal Myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Felice KJ</span><br />
|
||
<span class="medgenPMjournal">Neurol Clin</span>
|
||
2020 Aug;38(3):637-659.
|
||
Epub 2020 Jun 11
|
||
doi: 10.1016/j.ncl.2020.03.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32703474" target="_blank">32703474</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25037092">Distal myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dimachkie MM,
|
||
Barohn RJ</span><br />
|
||
<span class="medgenPMjournal">Neurol Clin</span>
|
||
2014 Aug;32(3):817-42, x.
|
||
Epub 2014 May 15
|
||
doi: 10.1016/j.ncl.2014.04.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25037092" target="_blank">25037092</a><a href="/pmc/articles/PMC4109660" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23622358">Myofibrillar myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Claeys KG,
|
||
Fardeau M</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2013;113:1337-42.
|
||
doi: 10.1016/B978-0-444-59565-2.00005-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23622358" target="_blank">23622358</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21256014">Myofibrillar myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Selcen D</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2011 Mar;21(3):161-71.
|
||
Epub 2011 Jan 20
|
||
doi: 10.1016/j.nmd.2010.12.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21256014" target="_blank">21256014</a><a href="/pmc/articles/PMC3052736" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myofibrillar%20myopathy%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (113)</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 class="nl"><a target="_blank" href="/pubmed/23639843">Differential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maerkens A,
|
||
Kley RA,
|
||
Olivé M,
|
||
Theis V,
|
||
van der Ven PF,
|
||
Reimann J,
|
||
Milting H,
|
||
Schreiner A,
|
||
Uszkoreit J,
|
||
Eisenacher M,
|
||
Barkovits K,
|
||
Güttsches AK,
|
||
Tonillo J,
|
||
Kuhlmann K,
|
||
Meyer HE,
|
||
Schröder R,
|
||
Tegenthoff M,
|
||
Fürst DO,
|
||
Müller T,
|
||
Goldfarb LG,
|
||
Vorgerd M,
|
||
Marcus K</span><br />
|
||
<span class="medgenPMjournal">J Proteomics</span>
|
||
2013 Sep 2;90:14-27.
|
||
Epub 2013 Apr 30
|
||
doi: 10.1016/j.jprot.2013.04.026.
|
||
<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 class="nl"><a target="_blank" href="/pubmed/21481933">Restrictive cardiomyopathy as a cardiac manifestation of myofibrillar myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Finsterer J,
|
||
Stöllberger C,
|
||
Höftberger R</span><br />
|
||
<span class="medgenPMjournal">Heart Lung</span>
|
||
2011 Sep-Oct;40(5):e123-7.
|
||
Epub 2011 Apr 9
|
||
doi: 10.1016/j.hrtlng.2010.07.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21481933" target="_blank">21481933</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myofibrillar%20myopathy%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3)</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/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/32112656">A mutation update for the FLNC gene in myopathies and cardiomyopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Verdonschot JAJ,
|
||
Vanhoutte EK,
|
||
Claes GRF,
|
||
Helderman-van den Enden ATJM,
|
||
Hoeijmakers JGJ,
|
||
Hellebrekers DMEI,
|
||
de Haan A,
|
||
Christiaans I,
|
||
Lekanne Deprez RH,
|
||
Boen HM,
|
||
van Craenenbroeck EM,
|
||
Loeys BL,
|
||
Hoedemaekers YM,
|
||
Marcelis C,
|
||
Kempers M,
|
||
Brusse E,
|
||
van Waning JI,
|
||
Baas AF,
|
||
Dooijes D,
|
||
Asselbergs FW,
|
||
Barge-Schaapveld DQCM,
|
||
Koopman P,
|
||
van den Wijngaard A,
|
||
Heymans SRB,
|
||
Krapels IPC,
|
||
Brunner HG</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2020 Jun;41(6):1091-1111.
|
||
Epub 2020 Mar 20
|
||
doi: 10.1002/humu.24004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32112656" target="_blank">32112656</a><a href="/pmc/articles/PMC7318287" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/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/18273731">Primary myopathies and the heart.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Finsterer J,
|
||
Stöllberger C</span><br />
|
||
<span class="medgenPMjournal">Scand Cardiovasc J</span>
|
||
2008 Feb;42(1):9-24.
|
||
doi: 10.1080/14017430701854953.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18273731" target="_blank">18273731</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myofibrillar%20myopathy%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (31)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39973468">Mutational and clinical spectrum of myofibrillar myopathy in one center from China.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang Q,
|
||
Sun P,
|
||
Yu M,
|
||
Xie Z,
|
||
Yu J,
|
||
Liu X,
|
||
Hong D,
|
||
Lv H,
|
||
Deng J,
|
||
Yuan Y,
|
||
Wang Z,
|
||
Zhang W</span><br />
|
||
<span class="medgenPMjournal">J Neuromuscul Dis</span>
|
||
2024 Nov;11(6):1247-1259.
|
||
Epub 2024 Dec 8
|
||
doi: 10.1177/22143602241289220.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39973468" target="_blank">39973468</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33030392">Metformin rescues muscle function in BAG3 myofibrillar myopathy models.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ruparelia AA,
|
||
McKaige EA,
|
||
Williams C,
|
||
Schulze KE,
|
||
Fuchs M,
|
||
Oorschot V,
|
||
Lacene E,
|
||
Meregalli M,
|
||
Lee C,
|
||
Serrano RJ,
|
||
Baxter EC,
|
||
Monro K,
|
||
Torrente Y,
|
||
Ramm G,
|
||
Stojkovic T,
|
||
Lavoie JN,
|
||
Bryson-Richardson RJ</span><br />
|
||
<span class="medgenPMjournal">Autophagy</span>
|
||
2021 Sep;17(9):2494-2510.
|
||
Epub 2020 Oct 19
|
||
doi: 10.1080/15548627.2020.1833500.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33030392" target="_blank">33030392</a><a href="/pmc/articles/PMC8496720" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31594457">Autophagy Defects in Skeletal Myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Margeta M</span><br />
|
||
<span class="medgenPMjournal">Annu Rev Pathol</span>
|
||
2020 Jan 24;15:261-285.
|
||
Epub 2019 Oct 8
|
||
doi: 10.1146/annurev-pathmechdis-012419-032618.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31594457" target="_blank">31594457</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29457652">Expanding the histopathological spectrum of CFL2-related myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fattori F,
|
||
Fiorillo C,
|
||
Rodolico C,
|
||
Tasca G,
|
||
Verardo M,
|
||
Bellacchio E,
|
||
Pizzi S,
|
||
Ciolfi A,
|
||
Fagiolari G,
|
||
Lupica A,
|
||
Broda P,
|
||
Pedemonte M,
|
||
Moggio M,
|
||
Bruno C,
|
||
Tartaglia M,
|
||
Bertini E,
|
||
D'Amico A</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2018 Jun;93(6):1234-1239.
|
||
Epub 2018 Mar 25
|
||
doi: 10.1111/cge.13240.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29457652" target="_blank">29457652</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22199023">Myofibrillar myopathy caused by a mutation in the motor domain of mouse MyHC IIb.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kurapati R,
|
||
McKenna C,
|
||
Lindqvist J,
|
||
Williams D,
|
||
Simon M,
|
||
LeProust E,
|
||
Baker J,
|
||
Cheeseman M,
|
||
Carroll N,
|
||
Denny P,
|
||
Laval S,
|
||
Lochmüller H,
|
||
Ochala J,
|
||
Blanco G</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
2012 Apr 15;21(8):1706-24.
|
||
Epub 2011 Dec 23
|
||
doi: 10.1093/hmg/ddr605.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22199023" target="_blank">22199023</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myofibrillar%20myopathy%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (56)</a></div></div>
|
||
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|
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|
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C2678065%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (16)</a></li>
|
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<li><a href="/gtr/tests?term=C2678065%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (1)</a></li>
|
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<li><a href="/gtr/tests?term=C2678065%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (24)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C2678065%5bDISCUI%5d" target="_blank">See all (24)</a></total></li>
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