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<meta name="keywords" content="C3714934, autosomal dominant distal myopathy caused by mutation in myot, autosomal dominant limb-girdle muscular dystrophy caused by mutation in myot, autosomal dominant limb-girdle muscular dystrophy type 1a, autosomal dominant spheroid body myopathy, disease or syndrome, distal myotilinopathy, lgmd1, lgmd1, formerly, lgmd1a, lgmd1a, formerly, limb-girdle muscular dystrophy due to myotilin deficiency, limb-girdle muscular dystrophy type 1a, limb-girdle muscular dystrophy, type 1a, mfm3, muscular dystrophy limb-girdle type 1a, muscular dystrophy, limb-girdle, type 1, formerly, muscular dystrophy, limb-girdle, type 1a, muscular dystrophy, limb-girdle, type 1a, formerly, muscular dystrophy, proximal, type 1a, myofibrillar myopathy 3, myofibrillar myopathy type 3, myopathy, myofibrillar, 3, myopathy, myofibrillar, myotilin-related, myopathy, myofibrillar, type 3, myopathy, spheroid body, myot, myot autosomal dominant distal myopathy, myot autosomal dominant limb-girdle muscular dystrophy, myotilinopathy, proximal muscular dystrophy type 1a, spheroid body myopathy, 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 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).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419)." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Myofibrillar myopathy 3 (Concept Id: C3714934)
- MedGen - NCBI</title>
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<!--
UID=811509
ConceptID=C3714934
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Myofibrillar myopathy 3<span class="h1sub">(MFM3)</span></div></h1><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)&#10;Click for more information."><span class="highlight" style="background-color:">C3714934</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>Autosomal dominant spheroid body myopathy; Limb-girdle muscular dystrophy, type 1A; MFM3; Muscular dystrophy, proximal, type 1A; Spheroid body myopathy</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="MYOT - ID: 9499 - NCBI Gene" href="/gene/9499" class="medgenPMinfo">MYOT</a> (5q31.2)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0012215" target="_blank">MONDO:0012215</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/609200" target="_blank">609200</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">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).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
</div>
<div class="portlet mgSection" id="ID_117">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />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).<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.  <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_68541"><div><strong>Myalgia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68541</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0231528</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">Pain in muscle.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/68541">Feature record</a> | <a href="/medgen?term=%22Myalgia%22%5BClinical%20Features%5D%20OR%2068541%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_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)&#10;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)&#10;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)&#10;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_115943"><div><strong>Areflexia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>115943</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0234146</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Absence of neurologic reflexes such as the knee-jerk reaction.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/115943">Feature record</a> | <a href="/medgen?term=%22Areflexia%22%5BClinical%20Features%5D%20OR%20115943%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_113151"><div><strong>Muscle stiffness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>113151</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0221170</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">A condition in which muscles cannot be moved quickly without accompanying pain or spasm.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/113151">Feature record</a> | <a href="/medgen?term=%22Muscle%20stiffness%22%5BClinical%20Features%5D%20OR%20113151%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_113169"><div><strong>Proximal muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>113169</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0221629</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A lack of strength of the proximal muscles.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/113169">Feature record</a> | <a href="/medgen?term=%22Proximal%20muscle%20weakness%22%5BClinical%20Features%5D%20OR%20113169%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_98052"><div><strong>Achilles tendon contracture</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98052</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0410264</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">A contracture of the Achilles tendon.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/98052">Feature record</a> | <a href="/medgen?term=%22Achilles%20tendon%20contracture%22%5BClinical%20Features%5D%20OR%2098052%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)&#10;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_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)&#10;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_330782"><div><strong>Centrally nucleated skeletal muscle fibers</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>330782</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1842170</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/330782">Feature record</a> | <a href="/medgen?term=%22Centrally%20nucleated%20skeletal%20muscle%20fibers%22%5BClinical%20Features%5D%20OR%20330782%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_336019"><div><strong>Increased variability in muscle fiber diameter</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336019</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1843700</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/336019">Feature record</a> | <a href="/medgen?term=%22Increased%20variability%20in%20muscle%20fiber%20diameter%22%5BClinical%20Features%5D%20OR%20336019%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_338530"><div><strong>Distal amyotrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338530</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1848736</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Muscular atrophy affecting muscles in the distal portions of the extremities.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/338530">Feature record</a> | <a href="/medgen?term=%22Distal%20amyotrophy%22%5BClinical%20Features%5D%20OR%20338530%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)&#10;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_867767"><div><strong>Muscle fiber cytoplasmatic inclusion bodies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867767</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4022157</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">The presence of inclusion bodies within the cytoplasm of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/867767">Feature record</a> | <a href="/medgen?term=%22Muscle%20fiber%20cytoplasmatic%20inclusion%20bodies%22%5BClinical%20Features%5D%20OR%20867767%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)&#10;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(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of 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_98052" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Achilles tendon contracture</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_330782" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Centrally nucleated skeletal muscle fibers</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_338530" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Distal amyotrophy</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_336019" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased variability in muscle fiber diameter</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867767" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscle fiber cytoplasmatic inclusion bodies</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_113151" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscle stiffness</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_113169" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proximal muscle weakness</a></span></li></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_115943" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Areflexia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_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><li><span class="TLline">Constitutional symptom</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68541" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myalgia</a></span></li></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=C0686353[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=151940">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&amp;from_uid=151940" ref="ncbi_uid=151940">V</a></span></span><span class="TLline"><a href="/medgen/151940" ref="tree=GTR&amp;ncbi_uid=151940&amp;link_uid=151940" title="View MedGen record for 'Limb-girdle muscular dystrophy'">Limb-girdle muscular dystrophy</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=C2931907[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=419194">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&amp;from_uid=419194" ref="ncbi_uid=419194">V</a></span></span><span class="TLline"><a href="/medgen/419194" ref="tree=GTR&amp;ncbi_uid=419194&amp;link_uid=419194" title="View MedGen record for 'Autosomal recessive limb-girdle muscular dystrophy'">Autosomal recessive limb-girdle muscular dystrophy</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=C1869123[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=358391">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=358391" target="_blank" href="/omim/114240">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1313/" ref="ncbi_uid=358391">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=358391" ref="ncbi_uid=358391">V</a></span></span><span class="TLline"><a href="/medgen/358391" ref="tree=GTR&amp;ncbi_uid=358391&amp;link_uid=358391" title="View MedGen record for 'Autosomal recessive limb-girdle muscular dystrophy type 2A'">Autosomal recessive limb-girdle muscular dystrophy type 2A</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=C1866008[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=400895">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=400895" target="_blank" href="/omim/601954">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=400895" ref="ncbi_uid=400895">V</a></span></span><span class="TLline"><a href="/medgen/400895" ref="tree=GTR&amp;ncbi_uid=400895&amp;link_uid=400895" title="View MedGen record for 'Autosomal recessive limb-girdle muscular dystrophy type 2G'">Autosomal recessive limb-girdle muscular dystrophy type 2G</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=C1837342[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=324741">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=324741" target="_blank" href="/omim/188840">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=324741" ref="ncbi_uid=324741">V</a></span></span><span class="TLline"><a href="/medgen/324741" ref="tree=GTR&amp;ncbi_uid=324741&amp;link_uid=324741" title="View MedGen record for 'Autosomal recessive limb-girdle muscular dystrophy type 2J'">Autosomal recessive limb-girdle muscular dystrophy type 2J</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=C1969785[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=370102">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=370102" target="_blank" href="/omim/608662">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK114459/" ref="ncbi_uid=370102">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=370102" ref="ncbi_uid=370102">V</a></span></span><span class="TLline"><a href="/medgen/370102" ref="tree=GTR&amp;ncbi_uid=370102&amp;link_uid=370102" title="View MedGen record for 'Autosomal recessive limb-girdle muscular dystrophy type 2L'">Autosomal recessive limb-girdle muscular dystrophy type 2L</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=C4511963[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=1386785">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1386785" target="_blank" href="/omim/128239">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=1386785" ref="ncbi_uid=1386785">V</a></span></span><span class="TLline"><a href="/medgen/1386785" ref="tree=GTR&amp;ncbi_uid=1386785&amp;link_uid=1386785" title="View MedGen record for 'Autosomal recessive limb-girdle muscular dystrophy type 2P'">Autosomal recessive limb-girdle muscular dystrophy type 2P</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=C3150989[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=462339">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462339" target="_blank" href="/omim/601282">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=462339" ref="ncbi_uid=462339">V</a></span></span><span class="TLline"><a href="/medgen/462339" ref="tree=GTR&amp;ncbi_uid=462339&amp;link_uid=462339" title="View MedGen record for 'Autosomal recessive limb-girdle muscular dystrophy type 2Q'">Autosomal recessive limb-girdle muscular dystrophy type 2Q</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=C4517996[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=1385598">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1385598" target="_blank" href="/omim/614138">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=1385598" ref="ncbi_uid=1385598">V</a></span></span><span class="TLline"><a href="/medgen/1385598" ref="tree=GTR&amp;ncbi_uid=1385598&amp;link_uid=1385598" title="View MedGen record for 'Autosomal recessive limb-girdle muscular dystrophy type R18'">Autosomal recessive limb-girdle muscular dystrophy type R18</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=C0457133[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=105341">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&amp;from_uid=105341" ref="ncbi_uid=105341">V</a></span></span><span class="TLline"><a href="/medgen/105341" ref="tree=GTR&amp;ncbi_uid=105341&amp;link_uid=105341" title="View MedGen record for 'Muscle eye brain disease'">Muscle eye brain disease</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=C3151519[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=462869">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462869" target="_blank" href="/omim/253280">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=462869" ref="ncbi_uid=462869">V</a></span></span><span class="TLline"><a href="/medgen/462869" ref="tree=GTR&amp;ncbi_uid=462869&amp;link_uid=462869" title="View MedGen record for 'Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3'">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2751052[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=413465">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=413465" target="_blank" href="/omim/607440">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=413465" ref="ncbi_uid=413465">V</a></span></span><span class="TLline"><a href="/medgen/413465" ref="tree=GTR&amp;ncbi_uid=413465&amp;link_uid=413465" title="View MedGen record for 'Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4'">Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4</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=C1847759[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=335764">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=335764" target="_blank" href="/omim/606612">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=335764" ref="ncbi_uid=335764">V</a></span></span><span class="TLline"><a href="/medgen/335764" ref="tree=GTR&amp;ncbi_uid=335764&amp;link_uid=335764" title="View MedGen record for 'Muscular dystrophy-dystroglycanopathy type B5'">Muscular dystrophy-dystroglycanopathy type B5</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=C2931687[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=419874">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1303/" ref="ncbi_uid=419874">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=419874" ref="ncbi_uid=419874">V</a></span></span><span class="TLline"><a href="/medgen/419874" ref="tree=GTR&amp;ncbi_uid=419874&amp;link_uid=419874" title="View MedGen record for 'Qualitative or quantitative defects of dysferlin'">Qualitative or quantitative defects of dysferlin</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=C1850889[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=338149">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=338149" target="_blank" href="/omim/253601">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1303/" ref="ncbi_uid=338149">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=338149" ref="ncbi_uid=338149">V</a></span></span><span class="TLline"><a href="/medgen/338149" ref="tree=GTR&amp;ncbi_uid=338149&amp;link_uid=338149" title="View MedGen record for 'Autosomal recessive limb-girdle muscular dystrophy type 2B'">Autosomal recessive limb-girdle muscular dystrophy type 2B</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=C4551973[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=1640757">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1640757" target="_blank" href="/omim/254130">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1303/" ref="ncbi_uid=1640757">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=1640757" ref="ncbi_uid=1640757">V</a></span></span><span class="TLline"><a href="/medgen/1640757" ref="tree=GTR&amp;ncbi_uid=1640757&amp;link_uid=1640757" title="View MedGen record for 'Miyoshi muscular dystrophy 1'">Miyoshi muscular dystrophy 1</a></span></li></ul></li><li class="TLclosed"><span class="TLline"><a href="/medgen/424705" ref="tree=GTR&amp;ncbi_uid=424705&amp;link_uid=424705" title="View MedGen record for 'Sarcoglycanopathy'">Sarcoglycanopathy</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=C0410173[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=98045">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=98045" target="_blank" href="/omim/253700">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=98045" ref="ncbi_uid=98045">V</a></span></span><span class="TLline"><a href="/medgen/98045" ref="tree=GTR&amp;ncbi_uid=98045&amp;link_uid=98045" title="View MedGen record for 'Autosomal recessive limb-girdle muscular dystrophy type 2C'">Autosomal recessive limb-girdle muscular dystrophy type 2C</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=C2936332[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=424706">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=424706" target="_blank" href="/omim/600119">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=424706" ref="ncbi_uid=424706">V</a></span></span><span class="TLline"><a href="/medgen/424706" ref="tree=GTR&amp;ncbi_uid=424706&amp;link_uid=424706" title="View MedGen record for 'Autosomal recessive limb-girdle muscular dystrophy type 2D'">Autosomal recessive limb-girdle muscular dystrophy type 2D</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=C2930900[DISCUI]&amp;test_type=Clinical&amp;redirect=true" ref="ncbi_uid=418943">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&amp;from_uid=418943" ref="ncbi_uid=418943">V</a></span></span><span class="TLline"><a href="/medgen/418943" ref="tree=GTR&amp;ncbi_uid=418943&amp;link_uid=418943" title="View MedGen record for 'Qualitative or quantitative defects of beta-sarcoglycan'">Qualitative or quantitative defects of beta-sarcoglycan</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=C5680806[DISCUI]&amp;test_type=Clinical&amp;redirect=true" ref="ncbi_uid=1826098">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&amp;from_uid=1826098" ref="ncbi_uid=1826098">V</a></span></span><span class="TLline"><a href="/medgen/1826098" ref="tree=GTR&amp;ncbi_uid=1826098&amp;link_uid=1826098" title="View MedGen record for 'Qualitative or quantitative defects of delta-sarcoglycan'">Qualitative or quantitative defects of delta-sarcoglycan</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0270968[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=78750">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=78750" target="_blank" href="/omim/254110">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=78750" ref="ncbi_uid=78750">V</a></span></span><span class="TLline"><a href="/medgen/78750" ref="tree=GTR&amp;ncbi_uid=78750&amp;link_uid=78750" title="View MedGen record for 'Sarcotubular myopathy'">Sarcotubular myopathy</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5675009[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=1826162">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&amp;from_uid=1826162" ref="ncbi_uid=1826162">V</a></span></span><span class="TLline"><a href="/medgen/1826162" ref="tree=GTR&amp;ncbi_uid=1826162&amp;link_uid=1826162" title="View MedGen record for 'Muscular dystrophy, limb-girdle, autosomal dominant'">Muscular dystrophy, limb-girdle, autosomal dominant</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=C4721885[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=1648441">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1648441" target="_blank" href="/omim/603511">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=1648441" ref="ncbi_uid=1648441">V</a></span></span><span class="TLline"><a href="/medgen/1648441" ref="tree=GTR&amp;ncbi_uid=1648441&amp;link_uid=1648441" title="View MedGen record for 'Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)'">Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)</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=C1842062[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=333983">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=333983" target="_blank" href="/omim/608423">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=333983" ref="ncbi_uid=333983">V</a></span></span><span class="TLline"><a href="/medgen/333983" ref="tree=GTR&amp;ncbi_uid=333983&amp;link_uid=333983" title="View MedGen record for 'Autosomal dominant limb-girdle muscular dystrophy type 1F'">Autosomal dominant limb-girdle muscular dystrophy type 1F</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=C1836765[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=322993">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=322993" target="_blank" href="/omim/607137">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=322993" ref="ncbi_uid=322993">V</a></span></span><span class="TLline"><a href="/medgen/322993" ref="tree=GTR&amp;ncbi_uid=322993&amp;link_uid=322993" title="View MedGen record for 'Autosomal dominant limb-girdle muscular dystrophy type 1G'">Autosomal dominant limb-girdle muscular dystrophy type 1G</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=C3150786[DISCUI]&amp;test_type=Clinical&amp;redirect=true" ref="ncbi_uid=462136">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462136" target="_blank" href="/omim/613530">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/462136" ref="tree=GTR&amp;ncbi_uid=462136&amp;link_uid=462136" title="View MedGen record for 'Autosomal dominant limb-girdle muscular dystrophy type 1H'">Autosomal dominant limb-girdle muscular dystrophy type 1H</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=C5679790[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=1826055">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&amp;from_uid=1826055" ref="ncbi_uid=1826055">V</a></span></span><span class="TLline"><a href="/medgen/1826055" ref="tree=GTR&amp;ncbi_uid=1826055&amp;link_uid=1826055" title="View MedGen record for 'Caveolinopathy'">Caveolinopathy</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=C0241005[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=69128">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=69128" target="_blank" href="/omim/123320">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=69128" ref="ncbi_uid=69128">V</a></span></span><span class="TLline"><a href="/medgen/69128" ref="tree=GTR&amp;ncbi_uid=69128&amp;link_uid=69128" title="View MedGen record for 'Elevated circulating creatine kinase concentration'">Elevated circulating creatine kinase concentration</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=C3495498[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=501195">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=501195" target="_blank" href="/omim/160760">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1768/" ref="ncbi_uid=501195">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=501195" ref="ncbi_uid=501195">V</a></span></span><span class="TLline"><a href="/medgen/501195" ref="tree=GTR&amp;ncbi_uid=501195&amp;link_uid=501195" title="View MedGen record for 'Hypertrophic cardiomyopathy 1'">Hypertrophic cardiomyopathy 1</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=C1832560[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=371357">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=371357" target="_blank" href="/omim/601253">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=371357" ref="ncbi_uid=371357">V</a></span></span><span class="TLline"><a href="/medgen/371357" ref="tree=GTR&amp;ncbi_uid=371357&amp;link_uid=371357" title="View MedGen record for 'Rippling muscle disease 2'">Rippling muscle disease 2</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832370[DISCUI]&amp;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&amp;from_uid=330449" ref="ncbi_uid=330449">V</a></span></span><span class="TLline"><a href="/medgen/330449" ref="tree=GTR&amp;ncbi_uid=330449&amp;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=C0410190[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=98048">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=98048" target="_blank" href="/omim/150330">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1436/" ref="ncbi_uid=98048">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=98048" ref="ncbi_uid=98048">V</a></span></span><span class="TLline"><a href="/medgen/98048" ref="tree=GTR&amp;ncbi_uid=98048&amp;link_uid=98048" title="View MedGen record for 'Emery-Dreifuss muscular dystrophy 2, autosomal dominant'">Emery-Dreifuss muscular dystrophy 2, autosomal dominant</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=C3714934[DISCUI]&amp;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&amp;from_uid=811509" ref="ncbi_uid=811509">V</a></span></span><span class="TLline">Myofibrillar myopathy 3</span></li></ul></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/536898" ref="tree=MeSH" title="MedGen record for Abnormality of limbs">Abnormality of limbs</a></span><ul><li><span class="TLline"><a href="/medgen/870150" ref="tree=MeSH" title="MedGen record for Abnormality of the musculature of the limbs">Abnormality of the musculature of the limbs</a></span><ul><li><span class="TLline"><a href="/medgen/330868" ref="tree=MeSH" title="MedGen record for Limb-girdle muscle atrophy">Limb-girdle muscle atrophy</a></span><ul><li><span class="TLline"><a href="/medgen/151940" ref="tree=MeSH" title="MedGen record for Limb-girdle muscular dystrophy">Limb-girdle muscular dystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/1826162" ref="tree=MeSH" title="MedGen record for Muscular dystrophy, limb-girdle, autosomal dominant">Muscular dystrophy, limb-girdle, autosomal dominant</a></span><ul><li><span class="matched_ds">Myofibrillar myopathy 3</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></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/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/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/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/25216331">Anesthetic considerations in myofibrillar myopathy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Latham GJ,
Lopez G</span><br />
<span class="medgenPMjournal">Paediatr Anaesth</span>
2015 Mar;25(3):231-8.
Epub 2014 Sep 12
doi: 10.1111/pan.12516.
<span class="bold">PMID: </span><a href="/pubmed/25216331" target="_blank">25216331</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%203%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 (17)</a></div><h3 class="subhead">Diagnosis</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/27445241">Distal Myopathies: Case Studies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Shaibani A</span><br />
<span class="medgenPMjournal">Neurol Clin</span>
2016 Aug;34(3):547-64.
doi: 10.1016/j.ncl.2016.04.014.
<span class="bold">PMID: </span><a href="/pubmed/27445241" target="_blank">27445241</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%203%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 (33)</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%203%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/35029900">Ultrasound evaluation of diaphragm motion in BAG-3 myofibrillar myopathy: A case report.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zhan L,
Lv L,
Chen X,
Xu X,
Ni J</span><br />
<span class="medgenPMjournal">Medicine (Baltimore)</span>
2022 Jan 7;101(1):e28484.
doi: 10.1097/MD.0000000000028484.
<span class="bold">PMID: </span><a href="/pubmed/35029900" target="_blank">35029900</a><a href="/pmc/articles/PMC8735720" target="_blank" class="PubMedFree">Free PMC Article</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/34617293">Immune-mediated necrotizing myopathy: Unusual presentations of a treatable disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Nicolau S,
Milone M,
Tracy JA,
Mills JR,
Triplett JD,
Liewluck T</span><br />
<span class="medgenPMjournal">Muscle Nerve</span>
2021 Dec;64(6):734-739.
Epub 2021 Oct 15
doi: 10.1002/mus.27435.
<span class="bold">PMID: </span><a href="/pubmed/34617293" target="_blank">34617293</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/30061062">BAG3 myopathy is not always associated with cardiomyopathy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Andersen AG,
Fornander F,
Schrøder HD,
Krag T,
Straub V,
Duno M,
Vissing J</span><br />
<span class="medgenPMjournal">Neuromuscul Disord</span>
2018 Sep;28(9):798-801.
Epub 2018 Jul 5
doi: 10.1016/j.nmd.2018.06.019.
<span class="bold">PMID: </span><a href="/pubmed/30061062" target="_blank">30061062</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myofibrillar%20myopathy%203%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 (6)</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/30061062">BAG3 myopathy is not always associated with cardiomyopathy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Andersen AG,
Fornander F,
Schrøder HD,
Krag T,
Straub V,
Duno M,
Vissing J</span><br />
<span class="medgenPMjournal">Neuromuscul Disord</span>
2018 Sep;28(9):798-801.
Epub 2018 Jul 5
doi: 10.1016/j.nmd.2018.06.019.
<span class="bold">PMID: </span><a href="/pubmed/30061062" target="_blank">30061062</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28488683">Progressive hereditary spastic paraplegia caused by a homozygous KY mutation.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yogev Y,
Perez Y,
Noyman I,
Madegem AA,
Flusser H,
Shorer Z,
Cohen E,
Kachko L,
Michaelovsky A,
Birk R,
Koifman A,
Drabkin M,
Wormser O,
Halperin D,
Kadir R,
Birk OS</span><br />
<span class="medgenPMjournal">Eur J Hum Genet</span>
2017 Aug;25(8):966-972.
Epub 2017 May 10
doi: 10.1038/ejhg.2017.85.
<span class="bold">PMID: </span><a href="/pubmed/28488683" target="_blank">28488683</a><a href="/pmc/articles/PMC5567152" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/10970245">Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Melberg A,
Oldfors A,
Blomström-Lundqvist C,
Stålberg E,
Carlsson B,
Larrson E,
Lidell C,
Eeg-Olofsson KE,
Wikström G,
Henriksson G,
Dahl N</span><br />
<span class="medgenPMjournal">Ann Neurol</span>
1999 Nov;46(5):684-92.
doi: 10.1002/1531-8249(199911)46:5&lt;684::aid-ana2&gt;3.0.co;2-#.
<span class="bold">PMID: </span><a href="/pubmed/10970245" target="_blank">10970245</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myofibrillar%20myopathy%203%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 (12)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<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=C3714934%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (43)</a></li>
<li><a href="/gtr/tests?term=C3714934%5bDISCUI%5d&amp;filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (1)</a></li>
<li><a href="/gtr/tests?term=C3714934%5bDISCUI%5d&amp;filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
<li><a href="/gtr/tests?term=C3714934%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (60)</a></li>
<li><a href="/gtr/tests?term=C3714934%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (15)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3714934%5bDISCUI%5d" target="_blank">See all (68)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Limb-girdle+muscular+dystrophy%2C+type+1A/4234" target="_blank">Genetic Alliance</a></li><li><a href="http://www.diseaseinfosearch.org/Myotilinopathy/8965" target="_blank">Genetic Alliance</a></li><li><a href="http://www.diseaseinfosearch.org/Spheroid+body+myopathy/6717" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/myopathy_myofibrillar_3" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&amp;query=Myofibrillar%20myopathy%203" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/myofibrillar-myopathy" target="_blank">MedlinePlusGenetics (GHR)</a></li></ul></div>
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