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<meta name="keywords" content="C4021663, abnormal muscle fiber morphology, abnormal muscle fibre morphology, abnormal skeletal muscle fiber morphology, abnormal skeletal muscle fibre morphology, abnormality of muscle fibers, abnormality of muscle fibres, anatomical abnormality, 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="Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=867300
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ConceptID=C4021663
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormal muscle fiber morphology</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867300</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.">C4021663</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Abnormality of muscle fibers</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:0004303">HP:0004303</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet mgSection" id="ID_118">
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<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>
|
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<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="TLline">Abnormal muscle fiber morphology</span></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="matched_ds">Abnormal muscle fiber morphology</span><ul><li><span class="TLline"><a href="/medgen/868261" ref="tree=MeSH" title="MedGen record for Abnormal muscle fiber protein expression">Abnormal muscle fiber protein expression</a></span><ul><li><span class="TLline"><a href="/medgen/868241" ref="tree=MeSH" title="MedGen record for Abnormal muscle fiber alpha dystroglycan">Abnormal muscle fiber alpha dystroglycan</a></span><ul><li><span class="TLline"><a href="/medgen/863535" ref="tree=MeSH" title="MedGen record for Hypoglycosylation of alpha-dystroglycan">Hypoglycosylation of alpha-dystroglycan</a></span></li><li><span class="TLline"><a href="/medgen/868254" ref="tree=MeSH" title="MedGen record for Reduced muscle fiber alpha dystroglycan">Reduced muscle fiber alpha dystroglycan</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868253" ref="tree=MeSH" title="MedGen record for Abnormal muscle fiber alpha sarcoglycan">Abnormal muscle fiber alpha sarcoglycan</a></span><ul><li><span class="TLline"><a href="/medgen/868252" ref="tree=MeSH" title="MedGen record for Absent muscle fiber alpha sarcoglycan">Absent muscle fiber alpha sarcoglycan</a></span></li><li><span class="TLline"><a href="/medgen/868251" ref="tree=MeSH" title="MedGen record for Reduced muscle fiber alpha sarcoglycan">Reduced muscle fiber alpha sarcoglycan</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868250" ref="tree=MeSH" title="MedGen record for Abnormal muscle fiber beta sarcoglycan">Abnormal muscle fiber beta sarcoglycan</a></span><ul><li><span class="TLline"><a href="/medgen/868247" ref="tree=MeSH" title="MedGen record for Absent muscle fiber beta sarcoglycan">Absent muscle fiber beta sarcoglycan</a></span></li><li><span class="TLline"><a href="/medgen/868246" ref="tree=MeSH" title="MedGen record for Reduced muscle fiber beta sarcoglycan">Reduced muscle fiber beta sarcoglycan</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868234" ref="tree=MeSH" title="MedGen record for Abnormal muscle fiber calpain-3">Abnormal muscle fiber calpain-3</a></span><ul><li><span class="TLline"><a href="/medgen/868233" ref="tree=MeSH" title="MedGen record for Absent muscle fiber calpain-3">Absent muscle fiber calpain-3</a></span></li><li><span class="TLline"><a href="/medgen/868232" ref="tree=MeSH" title="MedGen record for Reduced muscle fiber calpain-3">Reduced muscle fiber calpain-3</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868248" ref="tree=MeSH" title="MedGen record for Abnormal muscle fiber delta sarcoglycan">Abnormal muscle fiber delta sarcoglycan</a></span><ul><li><span class="TLline"><a href="/medgen/868243" ref="tree=MeSH" title="MedGen record for Absent muscle fiber delta sarcoglycan">Absent muscle fiber delta sarcoglycan</a></span></li><li><span class="TLline"><a href="/medgen/868242" ref="tree=MeSH" title="MedGen record for Reduced muscle fiber delta sarcoglycan">Reduced muscle fiber delta sarcoglycan</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868181" ref="tree=MeSH" title="MedGen record for Abnormal muscle fiber desmin">Abnormal muscle fiber desmin</a></span><ul><li><span class="TLline"><a href="/medgen/866696" ref="tree=MeSH" title="MedGen record for Accumulation of muscle fiber desmin">Accumulation of muscle fiber desmin</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868240" ref="tree=MeSH" title="MedGen record for Abnormal muscle fiber dysferlin">Abnormal muscle fiber dysferlin</a></span><ul><li><span class="TLline"><a href="/medgen/868239" ref="tree=MeSH" title="MedGen record for Absent muscle fiber dysferlin">Absent muscle fiber dysferlin</a></span></li><li><span class="TLline"><a href="/medgen/868238" ref="tree=MeSH" title="MedGen record for Reduced muscle fiber dysferlin">Reduced muscle fiber dysferlin</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868256" ref="tree=MeSH" title="MedGen record for Abnormal muscle fiber dystrophin expression">Abnormal muscle fiber dystrophin expression</a></span><ul><li><span class="TLline"><a href="/medgen/868255" ref="tree=MeSH" title="MedGen record for Absent muscle dystrophin expression">Absent muscle dystrophin expression</a></span></li><li><span class="TLline"><a href="/medgen/866706" ref="tree=MeSH" title="MedGen record for Reduced muscle dystrophin expression">Reduced muscle dystrophin expression</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868237" ref="tree=MeSH" title="MedGen record for Abnormal muscle fiber emerin">Abnormal muscle fiber emerin</a></span><ul><li><span class="TLline"><a href="/medgen/868236" ref="tree=MeSH" title="MedGen record for Absent muscle fiber emerin">Absent muscle fiber emerin</a></span></li><li><span class="TLline"><a href="/medgen/868235" ref="tree=MeSH" title="MedGen record for Reduced muscle fiber emerin">Reduced muscle fiber emerin</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868249" ref="tree=MeSH" title="MedGen record for Abnormal muscle fiber gamma sarcoglycan">Abnormal muscle fiber gamma sarcoglycan</a></span><ul><li><span class="TLline"><a href="/medgen/868244" ref="tree=MeSH" title="MedGen record for Absent muscle fiber gamma sarcoglycan">Absent muscle fiber gamma sarcoglycan</a></span></li><li><span class="TLline"><a href="/medgen/868245" ref="tree=MeSH" title="MedGen record for Reduced muscle fiber gamma sarcoglycan">Reduced muscle fiber gamma sarcoglycan</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868230" ref="tree=MeSH" title="MedGen record for Abnormal muscle fiber lamin A/C">Abnormal muscle fiber lamin A/C</a></span><ul><li><span class="TLline"><a href="/medgen/868229" ref="tree=MeSH" title="MedGen record for Reduced muscle fiber lamin A/C">Reduced muscle fiber lamin A/C</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868258" ref="tree=MeSH" title="MedGen record for Abnormal muscle fiber laminin beta 1">Abnormal muscle fiber laminin beta 1</a></span><ul><li><span class="TLline"><a href="/medgen/868257" ref="tree=MeSH" title="MedGen record for Reduced muscle fiber laminin beta 1">Reduced muscle fiber laminin beta 1</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868260" ref="tree=MeSH" title="MedGen record for Abnormal muscle fiber merosin expression">Abnormal muscle fiber merosin expression</a></span><ul><li><span class="TLline"><a href="/medgen/866708" ref="tree=MeSH" title="MedGen record for Absent muscle fiber merosin">Absent muscle fiber merosin</a></span></li><li><span class="TLline"><a href="/medgen/868259" ref="tree=MeSH" title="MedGen record for Reduced muscle fiber merosin">Reduced muscle fiber merosin</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868180" ref="tree=MeSH" title="MedGen record for Abnormal muscle fiber myotilin">Abnormal muscle fiber myotilin</a></span><ul><li><span class="TLline"><a href="/medgen/868179" ref="tree=MeSH" title="MedGen record for Accumulation of muscle fiber myotilin">Accumulation of muscle fiber myotilin</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868178" ref="tree=MeSH" title="MedGen record for Abnormal muscle fiber valosin-containing protein">Abnormal muscle fiber valosin-containing protein</a></span><ul><li><span class="TLline"><a href="/medgen/868177" ref="tree=MeSH" title="MedGen record for Accumulation of muscle fiber valosin-containing protein">Accumulation of muscle fiber valosin-containing protein</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1864395" ref="tree=MeSH" title="MedGen record for Elevated muscle fiber laminin alpha 5 expression">Elevated muscle fiber laminin alpha 5 expression</a></span></li><li><span class="TLline"><a href="/medgen/866707" ref="tree=MeSH" title="MedGen record for Reduced muscle collagen VI">Reduced muscle collagen VI</a></span></li><li><span class="TLline"><a href="/medgen/868231" ref="tree=MeSH" title="MedGen record for Reduced muscle fiber perlecan">Reduced muscle fiber perlecan</a></span></li><li><span class="TLline"><a href="/medgen/1841823" ref="tree=MeSH" title="MedGen record for Reduced muscle telethonin level">Reduced muscle telethonin level</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1788847" ref="tree=MeSH" title="MedGen record for Abnormal muscle fiber-type distribution">Abnormal muscle fiber-type distribution</a></span><ul><li><span class="TLline"><a href="/medgen/478824" ref="tree=MeSH" title="MedGen record for Fiber type grouping">Fiber type grouping</a></span></li><li><span class="TLline"><a href="/medgen/344274" ref="tree=MeSH" title="MedGen record for Type 1 muscle fiber predominance">Type 1 muscle fiber predominance</a></span></li><li><span class="TLline"><a href="/medgen/478817" ref="tree=MeSH" title="MedGen record for Type 2 muscle fiber predominance">Type 2 muscle fiber predominance</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1709260" ref="tree=MeSH" title="MedGen record for Abnormal sarcomere morphology">Abnormal sarcomere morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1712600" ref="tree=MeSH" title="MedGen record for Abnormal Z disk morphology">Abnormal Z disk morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1716989" ref="tree=MeSH" title="MedGen record for Increased Z-disc width">Increased Z-disc width</a></span></li><li><span class="TLline"><a href="/medgen/480908" ref="tree=MeSH" title="MedGen record for Z-band streaming">Z-band streaming</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1623054" ref="tree=MeSH" title="MedGen record for Internally nucleated skeletal muscle fibers">Internally nucleated skeletal muscle fibers</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868650" ref="tree=MeSH" title="MedGen record for Abnormality of skeletal muscle fiber size">Abnormality of skeletal muscle fiber size</a></span><ul><li><span class="TLline"><a href="/medgen/336019" ref="tree=MeSH" title="MedGen record for Increased variability in muscle fiber diameter">Increased variability in muscle fiber diameter</a></span></li><li><span class="TLline"><a href="/medgen/871106" ref="tree=MeSH" title="MedGen record for Type 1 fibers relatively smaller than type 2 fibers">Type 1 fibers relatively smaller than type 2 fibers</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1699728" ref="tree=MeSH" title="MedGen record for Angulated muscle fibers">Angulated muscle fibers</a></span></li><li><span class="TLline"><a href="/medgen/107466" ref="tree=MeSH" title="MedGen record for Autophagic vacuoles">Autophagic vacuoles</a></span></li><li><span class="TLline"><a href="/medgen/868176" ref="tree=MeSH" title="MedGen record for Central core regions in muscle fibers">Central core regions in muscle fibers</a></span></li><li><span class="TLline"><a href="/medgen/330782" ref="tree=MeSH" title="MedGen record for Centrally nucleated skeletal muscle fibers">Centrally nucleated skeletal muscle fibers</a></span></li><li><span class="TLline"><a href="/medgen/343012" ref="tree=MeSH" title="MedGen record for Deposits immunoreactive to beta-amyloid protein">Deposits immunoreactive to beta-amyloid protein</a></span></li><li><span class="TLline"><a href="/medgen/569371" ref="tree=MeSH" title="MedGen record for Fingerprint bodies">Fingerprint bodies</a></span></li><li><span class="TLline"><a href="/medgen/451038" ref="tree=MeSH" title="MedGen record for Hypertrophied muscle fibers">Hypertrophied muscle fibers</a></span></li><li><span class="TLline"><a href="/medgen/867771" ref="tree=MeSH" title="MedGen record for Increased endomysial connective tissue">Increased endomysial connective tissue</a></span></li><li><span class="TLline"><a href="/medgen/867770" ref="tree=MeSH" title="MedGen record for Motheaten muscle fibers">Motheaten muscle fibers</a></span></li><li><span class="TLline"><a href="/medgen/451037" ref="tree=MeSH" title="MedGen record for Muscle fiber atrophy">Muscle fiber atrophy</a></span><ul><li><span class="TLline"><a href="/medgen/868775" ref="tree=MeSH" title="MedGen record for Type 1 muscle fiber atrophy">Type 1 muscle fiber atrophy</a></span></li><li><span class="TLline"><a href="/medgen/355249" ref="tree=MeSH" title="MedGen record for Type 2 muscle fiber atrophy">Type 2 muscle fiber atrophy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/867769" ref="tree=MeSH" title="MedGen record for Muscle fiber inclusion bodies">Muscle fiber inclusion bodies</a></span><ul><li><span class="TLline"><a href="/medgen/1370128" ref="tree=MeSH" title="MedGen record for Muscle fiber actin filament accumulation">Muscle fiber actin filament accumulation</a></span></li><li><span class="TLline"><a href="/medgen/1841576" ref="tree=MeSH" title="MedGen record for Muscle fiber calsequestrin 1-containing inclusion bodies">Muscle fiber calsequestrin 1-containing inclusion bodies</a></span></li><li><span class="TLline"><a href="/medgen/867767" ref="tree=MeSH" title="MedGen record for Muscle fiber cytoplasmatic inclusion bodies">Muscle fiber cytoplasmatic inclusion bodies</a></span><ul><li><span class="TLline"><a href="/medgen/867768" ref="tree=MeSH" title="MedGen record for Desmin bodies">Desmin bodies</a></span></li><li><span class="TLline"><a href="/medgen/867765" ref="tree=MeSH" title="MedGen record for Muscle fiber hyaline bodies">Muscle fiber hyaline bodies</a></span></li><li><span class="TLline"><a href="/medgen/1815072" ref="tree=MeSH" title="MedGen record for Muscle fiber intracytoplasmic reducing inclusion bodies">Muscle fiber intracytoplasmic reducing inclusion bodies</a></span></li><li><span class="TLline"><a href="/medgen/866677" ref="tree=MeSH" title="MedGen record for Muscle fiber tubular inclusions">Muscle fiber tubular inclusions</a></span></li><li><span class="TLline"><a href="/medgen/866676" ref="tree=MeSH" title="MedGen record for Muscle fiber tubuloreticular inclusions">Muscle fiber tubuloreticular inclusions</a></span></li><li><span class="TLline"><a href="/medgen/814369" ref="tree=MeSH" title="MedGen record for Nemaline bodies">Nemaline bodies</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1841841" ref="tree=MeSH" title="MedGen record for Muscle fiber fuchsinophilic inclusion bodies">Muscle fiber fuchsinophilic inclusion bodies</a></span></li><li><span class="TLline"><a href="/medgen/1842077" ref="tree=MeSH" title="MedGen record for Muscle fiber granulofilamentous inclusion bodies">Muscle fiber granulofilamentous inclusion bodies</a></span></li><li><span class="TLline"><a href="/medgen/867766" ref="tree=MeSH" title="MedGen record for Muscle fiber intranuclear inclusion bodies">Muscle fiber intranuclear inclusion bodies</a></span></li><li><span class="TLline"><a href="/medgen/1841936" ref="tree=MeSH" title="MedGen record for Muscle fiber polyglucosan inclusion bodies">Muscle fiber polyglucosan inclusion bodies</a></span></li><li><span class="TLline"><a href="/medgen/569374" ref="tree=MeSH" title="MedGen record for Sarcoplasmic bodies">Sarcoplasmic bodies</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/376893" ref="tree=MeSH" title="MedGen record for Muscle fiber necrosis">Muscle fiber necrosis</a></span></li><li><span class="TLline"><a href="/medgen/322813" ref="tree=MeSH" title="MedGen record for Muscle fiber splitting">Muscle fiber splitting</a></span></li><li><span class="TLline"><a href="/medgen/1052632" ref="tree=MeSH" title="MedGen record for Muscle vacuoles">Muscle vacuoles</a></span></li><li><span class="TLline"><a href="/medgen/1615674" ref="tree=MeSH" title="MedGen record for Myelin-like whorls in vacuolated fibers">Myelin-like whorls in vacuolated fibers</a></span></li><li><span class="TLline"><a href="/medgen/1622297" ref="tree=MeSH" title="MedGen record for Necklace skeletal muscle fibers">Necklace skeletal muscle fibers</a></span></li><li><span class="TLline"><a href="/medgen/1054736" ref="tree=MeSH" title="MedGen record for Nonrimmed muscle vacuoles">Nonrimmed muscle vacuoles</a></span></li><li><span class="TLline"><a href="/medgen/488843" ref="tree=MeSH" title="MedGen record for Perifascicular muscle fiber atrophy">Perifascicular muscle fiber atrophy</a></span></li><li><span class="TLline"><a href="/medgen/477048" ref="tree=MeSH" title="MedGen record for Ragged-red muscle fibers">Ragged-red muscle fibers</a></span></li><li><span class="TLline"><a href="/medgen/340089" ref="tree=MeSH" title="MedGen record for Rimmed vacuoles">Rimmed vacuoles</a></span></li><li><span class="TLline"><a href="/medgen/451039" ref="tree=MeSH" title="MedGen record for Ring fibers">Ring fibers</a></span></li><li><span class="TLline"><a href="/medgen/1814214" ref="tree=MeSH" title="MedGen record for Skeletal muscle autophagosome accumulation">Skeletal muscle autophagosome accumulation</a></span></li><li><span class="TLline"><a href="/medgen/1841598" ref="tree=MeSH" title="MedGen record for Spheroid bodies">Spheroid bodies</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_112">
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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_69128"><div><strong>Elevated circulating creatine kinase concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>69128</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0241005</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<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>
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<div class="spaceAbove nowrap">See: <a href="/medgen/69128">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_120531"><div><strong>Greig cephalopolysyndactyly syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120531</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.">C0265306</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">Typical Greig cephalopolysyndactyly syndrome (GCPS) is characterized by macrocephaly, widely spaced eyes associated with increased interpupillary distance, preaxial polydactyly with or without postaxial polydactyly, and cutaneous syndactyly. Developmental delay, intellectual disability, or seizures appear to be uncommon manifestations (~<10%) of GCPS and may be more common in individuals with large (>300-kb) deletions that encompass GLI3. Approximately 20% of individuals with GCPS have hypoplasia or agenesis of the corpus callosum.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/120531">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1861320"><div><strong>Muscular dystrophy, limb-girdle, autosomal recessive 29</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1861320</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.">C5935611</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive limb-girdle muscular dystrophy-29 (LGMDR29) is a neuromuscular disorder characterized by onset of muscle weakness predominantly affecting the proximal lower limbs, although upper limb involvement also occurs. The disorder, which causes walking difficulties, is progressive and may result in loss of ambulation. Additional features include joint contractures, spinal abnormalities, and significant restrictive ventilatory dysfunction. Muscle biopsy shows dystrophic and myofibrillar changes, and serum creatine kinase is increased. Rare individuals have been reported to have central nervous system involvement, including cataracts, developmental delay, and brain imaging abnormalities (Nashabat et al., 2024 and Iruzubieta et al., 2024). For a discussion of genetic heterogeneity of autosomal recessive limb- girdle muscular dystrophy, see LGMDR1 (253600).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1861320">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_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></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120531" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Greig cephalopolysyndactyly syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1861320" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy, limb-girdle, autosomal recessive 29</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>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37263224">Stretch Mark Treatment by Tattooing and Microneedling.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Määttä J</span><br />
|
||
<span class="medgenPMjournal">Curr Probl Dermatol</span>
|
||
2022;56:205-211.
|
||
Epub 2023 Jun 1
|
||
doi: 10.1159/000529556.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37263224" target="_blank">37263224</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30136253">Inclusion Body Myositis: Update on Pathogenesis and Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Naddaf E,
|
||
Barohn RJ,
|
||
Dimachkie MM</span><br />
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||
<span class="medgenPMjournal">Neurotherapeutics</span>
|
||
2018 Oct;15(4):995-1005.
|
||
doi: 10.1007/s13311-018-0658-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30136253" target="_blank">30136253</a><a href="/pmc/articles/PMC6277289" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29154979">Small fiber neuropathy: Diagnosis, causes, and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sène D</span><br />
|
||
<span class="medgenPMjournal">Joint Bone Spine</span>
|
||
2018 Oct;85(5):553-559.
|
||
Epub 2017 Nov 16
|
||
doi: 10.1016/j.jbspin.2017.11.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29154979" target="_blank">29154979</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormal%20muscle%20fiber%20morphology)%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 (33)</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/31578728">Congenital myopathies: an update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Claeys KG</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
2020 Mar;62(3):297-302.
|
||
Epub 2019 Oct 2
|
||
doi: 10.1111/dmcn.14365.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31578728" target="_blank">31578728</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31498700">Mitral Valve Prolapse, Ventricular Arrhythmias, and Sudden Death.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Basso C,
|
||
Iliceto S,
|
||
Thiene G,
|
||
Perazzolo Marra M</span><br />
|
||
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<div class="nl"><a target="_blank" href="/pubmed/27676689">Structural Changes of Lumbar Muscles in Non-specific Low Back Pain: A Systematic Review.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20muscle%20fiber%20morphology%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 (778)</a></div><h3 class="subhead">Diagnosis</h3>
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<div class="portlet mgSection" id="ID_104">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="nl"><a target="_blank" href="/pubmed/27676689">Structural Changes of Lumbar Muscles in Non-specific Low Back Pain: A Systematic Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Goubert D,
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Oosterwijck JV,
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<div class="portlet_content ln"><span class="medgenPMauthor">Gosker HR,
|
||
Zeegers MP,
|
||
Wouters EF,
|
||
Schols AM</span><br />
|
||
<span class="medgenPMjournal">Thorax</span>
|
||
2007 Nov;62(11):944-9.
|
||
Epub 2007 May 25
|
||
doi: 10.1136/thx.2007.078980.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17526675" target="_blank">17526675</a><a href="/pmc/articles/PMC2117111" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20muscle%20fiber%20morphology%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3)</a></div></div>
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