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<meta name="keywords" content="C4021745, abnormality of the musculature, anatomical abnormality, muscular 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="Abnormality originating in one or more muscles, i.e., of the set of muscles of body." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=867380
ConceptID=C4021745
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormality of the musculature</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867380</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.">C4021745</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
<td>Muscular abnormality</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:0003011">HP:0003011</a></td></tr>
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
<div class="portlet mgSection" id="ID_100">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">Abnormality originating in one or more muscles, i.e., of the set of muscles of body. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
</div>
<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4021745[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=867380">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=867380" ref="ncbi_uid=867380">V</a></span></span><span class="TLline">Abnormality of the musculature</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="matched_ds">Abnormality of the musculature</span><ul><li><span class="TLline"><a href="/medgen/868777" ref="tree=MeSH" title="MedGen record for Abnormal muscle physiology">Abnormal muscle physiology</a></span><ul><li><span class="TLline"><a href="/medgen/488941" ref="tree=MeSH" title="MedGen record for Abnormal muscle tone">Abnormal muscle tone</a></span><ul><li><span class="TLline"><a href="/medgen/10132" ref="tree=MeSH" title="MedGen record for Hypertonia">Hypertonia</a></span></li><li><span class="TLline"><a href="/medgen/10133" ref="tree=MeSH" title="MedGen record for Hypotonia">Hypotonia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/99199" ref="tree=MeSH" title="MedGen record for EMG abnormality">EMG abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/1786998" ref="tree=MeSH" title="MedGen record for Abnormal single motor unit action potential">Abnormal single motor unit action potential</a></span></li><li><span class="TLline"><a href="/medgen/871138" ref="tree=MeSH" title="MedGen record for EMG: axonal abnormality">EMG: axonal abnormality</a></span></li><li><span class="TLline"><a href="/medgen/867780" ref="tree=MeSH" title="MedGen record for EMG: continuous motor unit activity at rest">EMG: continuous motor unit activity at rest</a></span></li><li><span class="TLline"><a href="/medgen/867778" ref="tree=MeSH" title="MedGen record for EMG: impaired neuromuscular transmission">EMG: impaired neuromuscular transmission</a></span></li><li><span class="TLline"><a href="/medgen/867776" ref="tree=MeSH" title="MedGen record for EMG: myokymic discharges">EMG: myokymic discharges</a></span></li><li><span class="TLline"><a href="/medgen/867362" ref="tree=MeSH" title="MedGen record for EMG: myopathic abnormalities">EMG: myopathic abnormalities</a></span></li><li><span class="TLline"><a href="/medgen/867779" ref="tree=MeSH" title="MedGen record for EMG: myotonic discharges">EMG: myotonic discharges</a></span></li><li><span class="TLline"><a href="/medgen/893078" ref="tree=MeSH" title="MedGen record for EMG: myotonic runs">EMG: myotonic runs</a></span></li><li><span class="TLline"><a href="/medgen/867363" ref="tree=MeSH" title="MedGen record for EMG: neuropathic changes">EMG: neuropathic changes</a></span></li><li><span class="TLline"><a href="/medgen/868287" ref="tree=MeSH" title="MedGen record for EMG: repetitive nerve stimulation abnormality">EMG: repetitive nerve stimulation abnormality</a></span></li><li><span class="TLline"><a href="/medgen/867777" ref="tree=MeSH" title="MedGen record for EMG: slow motor conduction">EMG: slow motor conduction</a></span></li><li><span class="TLline"><a href="/medgen/868285" ref="tree=MeSH" title="MedGen record for Single fiber EMG abnormality">Single fiber EMG abnormality</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/870898" ref="tree=MeSH" title="MedGen record for Functional motor deficit">Functional motor deficit</a></span><ul><li><span class="TLline"><a href="/medgen/68676" ref="tree=MeSH" title="MedGen record for Difficulty climbing stairs">Difficulty climbing stairs</a></span></li><li><span class="TLline"><a href="/medgen/644568" ref="tree=MeSH" title="MedGen record for Difficulty descending stairs">Difficulty descending stairs</a></span></li><li><span class="TLline"><a href="/medgen/108251" ref="tree=MeSH" title="MedGen record for Difficulty running">Difficulty running</a></span></li><li><span class="TLline"><a href="/medgen/69136" ref="tree=MeSH" title="MedGen record for Difficulty standing">Difficulty standing</a></span></li><li><span class="TLline"><a href="/medgen/163408" ref="tree=MeSH" title="MedGen record for Frequent falls">Frequent falls</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1055777" ref="tree=MeSH" title="MedGen record for Increased compartment pressure">Increased compartment pressure</a></span></li><li><span class="TLline"><a href="/medgen/892934" ref="tree=MeSH" title="MedGen record for Increased muscle fatiguability">Increased muscle fatiguability</a></span><ul><li><span class="TLline"><a href="/medgen/340906" ref="tree=MeSH" title="MedGen record for Exercise-induced muscle fatigue">Exercise-induced muscle fatigue</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/871101" ref="tree=MeSH" title="MedGen record for Muscle abnormality related to mitochondrial dysfunction">Muscle abnormality related to mitochondrial dysfunction</a></span><ul><li><span class="TLline"><a href="/medgen/867360" ref="tree=MeSH" title="MedGen record for Cytochrome C oxidase-negative muscle fibers">Cytochrome C oxidase-negative muscle fibers</a></span></li><li><span class="TLline"><a href="/medgen/56484" ref="tree=MeSH" title="MedGen record for Inborn mitochondrial myopathy">Inborn mitochondrial myopathy</a></span></li><li><span class="TLline"><a href="/medgen/871128" ref="tree=MeSH" title="MedGen record for Subsarcolemmal accumulations of abnormally shaped mitochondria">Subsarcolemmal accumulations of abnormally shaped mitochondria</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/340036" ref="tree=MeSH" title="MedGen record for Muscle hyperirritability">Muscle hyperirritability</a></span></li><li><span class="TLline"><a href="/medgen/52431" ref="tree=MeSH" title="MedGen record for Muscle spasm">Muscle spasm</a></span><ul><li><span class="TLline"><a href="/medgen/1714806" ref="tree=MeSH" title="MedGen record for Carpal Spasm">Carpal Spasm</a></span></li><li><span class="TLline"><a href="/medgen/396193" ref="tree=MeSH" title="MedGen record for Cold-induced muscle cramps">Cold-induced muscle cramps</a></span></li><li><span class="TLline"><a href="/medgen/383715" ref="tree=MeSH" title="MedGen record for Exercise-induced muscle cramps">Exercise-induced muscle cramps</a></span></li><li><span class="TLline"><a href="/medgen/75813" ref="tree=MeSH" title="MedGen record for Hemifacial spasm">Hemifacial spasm</a></span></li><li><span class="TLline"><a href="/medgen/868701" ref="tree=MeSH" title="MedGen record for Intermittent painful muscle spasms">Intermittent painful muscle spasms</a></span></li><li><span class="TLline"><a href="/medgen/1719264" ref="tree=MeSH" title="MedGen record for Pedal Spasm">Pedal Spasm</a></span></li><li><span class="TLline"><a href="/medgen/1671011" ref="tree=MeSH" title="MedGen record for Perioral spasm">Perioral spasm</a></span></li><li><span class="TLline"><a href="/medgen/21671" ref="tree=MeSH" title="MedGen record for Trismus">Trismus</a></span></li><li><span class="TLline"><a href="/medgen/535845" ref="tree=MeSH" title="MedGen record for Trousseau sign">Trousseau sign</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/113151" ref="tree=MeSH" title="MedGen record for Muscle stiffness">Muscle stiffness</a></span><ul><li><span class="TLline"><a href="/medgen/343388" ref="tree=MeSH" title="MedGen record for Exercise-induced muscle stiffness">Exercise-induced muscle stiffness</a></span></li><li><span class="TLline"><a href="/medgen/870176" ref="tree=MeSH" title="MedGen record for Leg muscle stiffness">Leg muscle stiffness</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/57735" ref="tree=MeSH" title="MedGen record for Muscle weakness">Muscle weakness</a></span><ul><li><span class="TLline"><a href="/medgen/867169" ref="tree=MeSH" title="MedGen record for Abdominal wall muscle weakness">Abdominal wall muscle weakness</a></span></li><li><span class="TLline"><a href="/medgen/1624738" ref="tree=MeSH" title="MedGen record for Ankle weakness">Ankle weakness</a></span></li><li><span class="TLline"><a href="/medgen/334472" ref="tree=MeSH" title="MedGen record for Axial muscle weakness">Axial muscle weakness</a></span></li><li><span class="TLline"><a href="/medgen/1622474" ref="tree=MeSH" title="MedGen record for Cold paresis">Cold paresis</a></span></li><li><span class="TLline"><a href="/medgen/101067" ref="tree=MeSH" title="MedGen record for Diaphragmatic weakness">Diaphragmatic weakness</a></span></li><li><span class="TLline"><a href="/medgen/140883" ref="tree=MeSH" title="MedGen record for Distal muscle weakness">Distal muscle weakness</a></span></li><li><span class="TLline"><a href="/medgen/217001" ref="tree=MeSH" title="MedGen record for Eye Muscle Weakness">Eye Muscle Weakness</a></span></li><li><span class="TLline"><a href="/medgen/155433" ref="tree=MeSH" title="MedGen record for Generalized muscle weakness">Generalized muscle weakness</a></span></li><li><span class="TLline"><a href="/medgen/324478" ref="tree=MeSH" title="MedGen record for Lower limb muscle weakness">Lower limb muscle weakness</a></span></li><li><span class="TLline"><a href="/medgen/10131" ref="tree=MeSH" title="MedGen record for Muscle flaccidity">Muscle flaccidity</a></span></li><li><span class="TLline"><a href="/medgen/305594" ref="tree=MeSH" title="MedGen record for Muscle Weakness Left-Sided">Muscle Weakness Left-Sided</a></span></li><li><span class="TLline"><a href="/medgen/305677" ref="tree=MeSH" title="MedGen record for Muscle Weakness Right-Sided">Muscle Weakness Right-Sided</a></span></li><li><span class="TLline"><a href="/medgen/66808" ref="tree=MeSH" title="MedGen record for Neck muscle weakness">Neck muscle weakness</a></span></li><li><span class="TLline"><a href="/medgen/283929" ref="tree=MeSH" title="MedGen record for Pelvic Floor Muscle Weakness">Pelvic Floor Muscle Weakness</a></span></li><li><span class="TLline"><a href="/medgen/322809" ref="tree=MeSH" title="MedGen record for Poor head control">Poor head control</a></span></li><li><span class="TLline"><a href="/medgen/68704" ref="tree=MeSH" title="MedGen record for Progressive muscle weakness">Progressive muscle weakness</a></span></li><li><span class="TLline"><a href="/medgen/113169" ref="tree=MeSH" title="MedGen record for Proximal muscle weakness">Proximal muscle weakness</a></span></li><li><span class="TLline"><a href="/medgen/331234" ref="tree=MeSH" title="MedGen record for Scapuloperoneal weakness">Scapuloperoneal weakness</a></span></li><li><span class="TLline"><a href="/medgen/116123" ref="tree=MeSH" title="MedGen record for Truncal muscle weakness">Truncal muscle weakness</a></span></li><li><span class="TLline"><a href="/medgen/305607" ref="tree=MeSH" title="MedGen record for Upper limb muscle weakness">Upper limb muscle weakness</a></span></li><li><span class="TLline"><a href="/medgen/98103" ref="tree=MeSH" title="MedGen record for Weakness of facial musculature">Weakness of facial musculature</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/675119" ref="tree=MeSH" title="MedGen record for Myotonia">Myotonia</a></span><ul><li><span class="TLline"><a href="/medgen/868288" ref="tree=MeSH" title="MedGen record for Cold-sensitive myotonia">Cold-sensitive myotonia</a></span></li><li><span class="TLline"><a href="/medgen/357016" ref="tree=MeSH" title="MedGen record for Handgrip myotonia">Handgrip myotonia</a></span></li><li><span class="TLline"><a href="/medgen/868292" ref="tree=MeSH" title="MedGen record for Myotonia of the face">Myotonia of the face</a></span></li><li><span class="TLline"><a href="/medgen/868291" ref="tree=MeSH" title="MedGen record for Myotonia of the jaw">Myotonia of the jaw</a></span></li><li><span class="TLline"><a href="/medgen/868290" ref="tree=MeSH" title="MedGen record for Myotonia of the lower limb">Myotonia of the lower limb</a></span></li><li><span class="TLline"><a href="/medgen/868289" ref="tree=MeSH" title="MedGen record for Myotonia of the upper limb">Myotonia of the upper limb</a></span></li><li><span class="TLline"><a href="/medgen/871108" ref="tree=MeSH" title="MedGen record for Myotonia with warm-up phenomenon">Myotonia with warm-up phenomenon</a></span></li><li><span class="TLline"><a href="/medgen/868774" ref="tree=MeSH" title="MedGen record for Paradoxical myotonia">Paradoxical myotonia</a></span></li><li><span class="TLline"><a href="/medgen/148293" ref="tree=MeSH" title="MedGen record for Percussion myotonia">Percussion myotonia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1864113" ref="tree=MeSH" title="MedGen record for Reduced in vitro contracture test threshold">Reduced in vitro contracture test threshold</a></span></li><li><span class="TLline"><a href="/medgen/11748" ref="tree=MeSH" title="MedGen record for Tetany">Tetany</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868776" ref="tree=MeSH" title="MedGen record for Abnormal skeletal muscle morphology">Abnormal skeletal muscle morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1384820" ref="tree=MeSH" title="MedGen record for Abnormal axial muscle morphology">Abnormal axial muscle morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1375190" ref="tree=MeSH" title="MedGen record for Axial muscle atrophy">Axial muscle atrophy</a></span></li><li><span class="TLline"><a href="/medgen/870515" ref="tree=MeSH" title="MedGen record for Axial muscle stiffness">Axial muscle stiffness</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/867188" ref="tree=MeSH" title="MedGen record for Abnormal mitochondria in muscle tissue">Abnormal mitochondria in muscle tissue</a></span></li><li><span class="TLline"><a href="/medgen/869186" ref="tree=MeSH" title="MedGen record for Abnormal morphology of the abdominal musculature">Abnormal morphology of the abdominal musculature</a></span><ul><li><span class="TLline"><a href="/medgen/869482" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia of the abdominal wall musculature">Aplasia/Hypoplasia of the abdominal wall musculature</a></span></li><li><span class="TLline"><a href="/medgen/113171" ref="tree=MeSH" title="MedGen record for Diastasis recti">Diastasis recti</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1642985" ref="tree=MeSH" title="MedGen record for Abnormal morphology of the chest musculature">Abnormal morphology of the chest musculature</a></span></li><li><span class="TLline"><a href="/medgen/871280" ref="tree=MeSH" title="MedGen record for Abnormal morphology of the pelvis musculature">Abnormal morphology of the pelvis musculature</a></span><ul><li><span class="TLline"><a href="/medgen/871294" ref="tree=MeSH" title="MedGen record for Abnormality of the gluteal musculature">Abnormality of the gluteal musculature</a></span></li><li><span class="TLline"><a href="/medgen/871292" ref="tree=MeSH" title="MedGen record for Abnormality of the hip-girdle musculature">Abnormality of the hip-girdle musculature</a></span></li><li><span class="TLline"><a href="/medgen/871278" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia of the musculature of the pelvis">Aplasia/Hypoplasia of the musculature of the pelvis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1631604" ref="tree=MeSH" title="MedGen record for Abnormal morphology of the shoulder musculature">Abnormal morphology of the shoulder musculature</a></span></li><li><span class="TLline"><a href="/medgen/867300" ref="tree=MeSH" title="MedGen record for Abnormal muscle fiber morphology">Abnormal muscle fiber morphology</a></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></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></li><li><span class="TLline"><a href="/medgen/1709260" ref="tree=MeSH" title="MedGen record for Abnormal sarcomere morphology">Abnormal sarcomere morphology</a></span></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></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></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></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><li><span class="TLline"><a href="/medgen/1842045" ref="tree=MeSH" title="MedGen record for Abnormal muscle tissue enzyme activity or level">Abnormal muscle tissue enzyme activity or level</a></span><ul><li><span class="TLline"><a href="/medgen/1842054" ref="tree=MeSH" title="MedGen record for Abnormal muscle succinate dehydrogenase staining">Abnormal muscle succinate dehydrogenase staining</a></span></li><li><span class="TLline"><a href="/medgen/1841905" ref="tree=MeSH" title="MedGen record for Reduced muscle aconitase activity">Reduced muscle aconitase activity</a></span></li><li><span class="TLline"><a href="/medgen/1841902" ref="tree=MeSH" title="MedGen record for Reduced muscle laminin alpha-2 chain staining">Reduced muscle laminin alpha-2 chain staining</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/871369" ref="tree=MeSH" title="MedGen record for Abnormality of facial musculature">Abnormality of facial musculature</a></span><ul><li><span class="TLline"><a href="/medgen/892499" ref="tree=MeSH" title="MedGen record for Abnormality of jaw muscles">Abnormality of jaw muscles</a></span></li><li><span class="TLline"><a href="/medgen/892899" ref="tree=MeSH" title="MedGen record for Abnormality of muscle of facial expression">Abnormality of muscle of facial expression</a></span></li><li><span class="TLline"><a href="/medgen/892697" ref="tree=MeSH" title="MedGen record for Abnormality of nasal musculature">Abnormality of nasal musculature</a></span></li><li><span class="TLline"><a href="/medgen/320257" ref="tree=MeSH" title="MedGen record for Hypoplasia of facial musculature">Hypoplasia of facial musculature</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868171" ref="tree=MeSH" title="MedGen record for Abnormality of muscle size">Abnormality of muscle size</a></span><ul><li><span class="TLline"><a href="/medgen/871285" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia involving the skeletal musculature">Aplasia/Hypoplasia involving the skeletal musculature</a></span></li><li><span class="TLline"><a href="/medgen/853739" ref="tree=MeSH" title="MedGen record for Skeletal muscle hypertrophy">Skeletal muscle hypertrophy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1647071" ref="tree=MeSH" title="MedGen record for Abnormality of the back musculature">Abnormality of the back musculature</a></span></li><li><span class="TLline"><a href="/medgen/338566" ref="tree=MeSH" title="MedGen record for Abnormality of the diaphragm">Abnormality of the diaphragm</a></span><ul><li><span class="TLline"><a href="/medgen/868081" ref="tree=MeSH" title="MedGen record for Abnormal hemidiaphragm morphology">Abnormal hemidiaphragm morphology</a></span></li><li><span class="TLline"><a href="/medgen/869483" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia of the diaphragm">Aplasia/Hypoplasia of the diaphragm</a></span></li><li><span class="TLline"><a href="/medgen/346925" ref="tree=MeSH" title="MedGen record for Denervation of the diaphragm">Denervation of the diaphragm</a></span></li><li><span class="TLline"><a href="/medgen/8359" ref="tree=MeSH" title="MedGen record for Diaphragmatic eventration">Diaphragmatic eventration</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/870148" ref="tree=MeSH" title="MedGen record for Abnormality of the musculature of the thorax">Abnormality of the musculature of the thorax</a></span><ul><li><span class="TLline"><a href="/medgen/868705" ref="tree=MeSH" title="MedGen record for Abnormal pectoral muscle morphology">Abnormal pectoral muscle morphology</a></span></li><li><span class="TLline"><a href="/medgen/812190" ref="tree=MeSH" title="MedGen record for Hypoplasia of latissimus dorsi muscle">Hypoplasia of latissimus dorsi muscle</a></span></li><li><span class="TLline"><a href="/medgen/357438" ref="tree=MeSH" title="MedGen record for Hypoplasia of serratus anterior muscle">Hypoplasia of serratus anterior muscle</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/755917" ref="tree=MeSH" title="MedGen record for Calcification of muscles">Calcification of muscles</a></span></li><li><span class="TLline"><a href="/medgen/709" ref="tree=MeSH" title="MedGen record for Calcinosis">Calcinosis</a></span><ul><li><span class="TLline"><a href="/medgen/105455" ref="tree=MeSH" title="MedGen record for Breast microcalcification">Breast microcalcification</a></span></li><li><span class="TLline"><a href="/medgen/2404" ref="tree=MeSH" title="MedGen record for Calciphylaxis">Calciphylaxis</a></span></li><li><span class="TLline"><a href="/medgen/124360" ref="tree=MeSH" title="MedGen record for Cerebral calcification">Cerebral calcification</a></span></li><li><span class="TLline"><a href="/medgen/313987" ref="tree=MeSH" title="MedGen record for Chicken Wire Calcification">Chicken Wire Calcification</a></span></li><li><span class="TLline"><a href="/medgen/60083" ref="tree=MeSH" title="MedGen record for CREST syndrome">CREST syndrome</a></span></li><li><span class="TLline"><a href="/medgen/87170" ref="tree=MeSH" title="MedGen record for Dystrophic calcification">Dystrophic calcification</a></span></li><li><span class="TLline"><a href="/medgen/575156" ref="tree=MeSH" title="MedGen record for Extraosseous Calcification">Extraosseous Calcification</a></span></li><li><span class="TLline"><a href="/medgen/10222" ref="tree=MeSH" title="MedGen record for Nephrocalcinosis">Nephrocalcinosis</a></span></li><li><span class="TLline"><a href="/medgen/75539" ref="tree=MeSH" title="MedGen record for Tracheal calcification">Tracheal calcification</a></span></li><li><span class="TLline"><a href="/medgen/90990" ref="tree=MeSH" title="MedGen record for Vascular calcification">Vascular calcification</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/373256" ref="tree=MeSH" title="MedGen record for Decreased muscle mass">Decreased muscle mass</a></span></li><li><span class="TLline"><a href="/medgen/866735" ref="tree=MeSH" title="MedGen record for Fatty replacement of skeletal muscle">Fatty replacement of skeletal muscle</a></span></li><li><span class="TLline"><a href="/medgen/342558" ref="tree=MeSH" title="MedGen record for Firm muscles">Firm muscles</a></span></li><li><span class="TLline"><a href="/medgen/373412" ref="tree=MeSH" title="MedGen record for Generalized muscular appearance from birth">Generalized muscular appearance from birth</a></span></li><li><span class="TLline"><a href="/medgen/331963" ref="tree=MeSH" title="MedGen record for Increased intramuscular fat">Increased intramuscular fat</a></span></li><li><span class="TLline"><a href="/medgen/777032" ref="tree=MeSH" title="MedGen record for Intramuscular hematoma">Intramuscular hematoma</a></span></li><li><span class="TLline"><a href="/medgen/1670980" ref="tree=MeSH" title="MedGen record for Muscle eosinophilia">Muscle eosinophilia</a></span></li><li><span class="TLline"><a href="/medgen/508806" ref="tree=MeSH" title="MedGen record for Muscle hemorrhage">Muscle hemorrhage</a></span></li><li><span class="TLline"><a href="/medgen/892680" ref="tree=MeSH" title="MedGen record for Muscular atrophy">Muscular atrophy</a></span><ul><li><span class="TLline"><a href="/medgen/338530" ref="tree=MeSH" title="MedGen record for Distal amyotrophy">Distal amyotrophy</a></span></li><li><span class="TLline"><a href="/medgen/234650" ref="tree=MeSH" title="MedGen record for Generalized amyotrophy">Generalized amyotrophy</a></span></li><li><span class="TLline"><a href="/medgen/870475" ref="tree=MeSH" title="MedGen record for Lower limb amyotrophy">Lower limb amyotrophy</a></span></li><li><span class="TLline"><a href="/medgen/870177" ref="tree=MeSH" title="MedGen record for Nonprogressive muscular atrophy">Nonprogressive muscular atrophy</a></span></li><li><span class="TLline"><a href="/medgen/810815" ref="tree=MeSH" title="MedGen record for Peroneal muscle atrophy">Peroneal muscle atrophy</a></span></li><li><span class="TLline"><a href="/medgen/342591" ref="tree=MeSH" title="MedGen record for Proximal amyotrophy">Proximal amyotrophy</a></span></li><li><span class="TLline"><a href="/medgen/331235" ref="tree=MeSH" title="MedGen record for Scapuloperoneal amyotrophy">Scapuloperoneal amyotrophy</a></span></li><li><span class="TLline"><a href="/medgen/7755" ref="tree=MeSH" title="MedGen record for Spinal muscular atrophy">Spinal muscular atrophy</a></span></li><li><span class="TLline"><a href="/medgen/868665" ref="tree=MeSH" title="MedGen record for Sternocleidomastoid amyotrophy">Sternocleidomastoid amyotrophy</a></span></li><li><span class="TLline"><a href="/medgen/867165" ref="tree=MeSH" title="MedGen record for Upper limb amyotrophy">Upper limb amyotrophy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/44527" ref="tree=MeSH" title="MedGen record for Muscular dystrophy">Muscular dystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/339580" ref="tree=MeSH" title="MedGen record for Autosomal recessive limb-girdle muscular dystrophy type 2I">Autosomal recessive limb-girdle muscular dystrophy type 2I</a></span></li><li><span class="TLline"><a href="/medgen/332193" ref="tree=MeSH" title="MedGen record for Autosomal recessive limb-girdle muscular dystrophy type 2K">Autosomal recessive limb-girdle muscular dystrophy type 2K</a></span></li><li><span class="TLline"><a href="/medgen/182959" ref="tree=MeSH" title="MedGen record for Becker muscular dystrophy">Becker muscular dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/413043" ref="tree=MeSH" title="MedGen record for Congenital muscular dystrophy due to LMNA mutation">Congenital muscular dystrophy due to LMNA mutation</a></span></li><li><span class="TLline"><a href="/medgen/155541" ref="tree=MeSH" title="MedGen record for Distal myopathy">Distal myopathy</a></span></li><li><span class="TLline"><a href="/medgen/3925" ref="tree=MeSH" title="MedGen record for Duchenne muscular dystrophy">Duchenne muscular dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/98047" ref="tree=MeSH" title="MedGen record for Eichsfeld type congenital muscular dystrophy">Eichsfeld type congenital muscular dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/96078" ref="tree=MeSH" title="MedGen record for Emery-Dreifuss muscular dystrophy">Emery-Dreifuss muscular dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/65956" ref="tree=MeSH" title="MedGen record for Facioscapulohumeral muscular dystrophy">Facioscapulohumeral muscular dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/5342" ref="tree=MeSH" title="MedGen record for Glycogen storage disease, type VII">Glycogen storage disease, type VII</a></span></li><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></li><li><span class="TLline"><a href="/medgen/224728" ref="tree=MeSH" title="MedGen record for Merosin deficient congenital muscular dystrophy">Merosin deficient congenital muscular dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/1640757" ref="tree=MeSH" title="MedGen record for Miyoshi muscular dystrophy 1">Miyoshi muscular dystrophy 1</a></span></li><li><span class="TLline"><a href="/medgen/1715069" ref="tree=MeSH" title="MedGen record for Muscular Dystrophy Secondary to Mitochondrial Disorder">Muscular Dystrophy Secondary to Mitochondrial Disorder</a></span></li><li><span class="TLline"><a href="/medgen/1711158" ref="tree=MeSH" title="MedGen record for Muscular Dystrophy Secondary to Oxidative Phosphorylation Disorder">Muscular Dystrophy Secondary to Oxidative Phosphorylation Disorder</a></span></li><li><span class="TLline"><a href="/medgen/140820" ref="tree=MeSH" title="MedGen record for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4</a></span></li><li><span class="TLline"><a href="/medgen/924974" ref="tree=MeSH" title="MedGen record for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1</a></span></li><li><span class="TLline"><a href="/medgen/461761" ref="tree=MeSH" title="MedGen record for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2</a></span></li><li><span class="TLline"><a href="/medgen/462869" ref="tree=MeSH" title="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><li><span class="TLline"><a href="/medgen/461764" ref="tree=MeSH" title="MedGen record for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6</a></span></li><li><span class="TLline"><a href="/medgen/461766" ref="tree=MeSH" title="MedGen record for Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2">Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2</a></span></li><li><span class="TLline"><a href="/medgen/10239" ref="tree=MeSH" title="MedGen record for Myotonic dystrophy">Myotonic dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/75730" ref="tree=MeSH" title="MedGen record for Oculopharyngeal muscular dystrophy">Oculopharyngeal muscular dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/98373" ref="tree=MeSH" title="MedGen record for Scapulohumeral muscular dystrophy">Scapulohumeral muscular dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/98046" ref="tree=MeSH" title="MedGen record for Ullrich congenital muscular dystrophy 1A">Ullrich congenital muscular dystrophy 1A</a></span></li><li><span class="TLline"><a href="/medgen/75553" ref="tree=MeSH" title="MedGen record for Walker-Warburg congenital muscular dystrophy">Walker-Warburg congenital muscular dystrophy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/867593" ref="tree=MeSH" title="MedGen record for Muscular edema">Muscular edema</a></span></li><li><span class="TLline"><a href="/medgen/10135" ref="tree=MeSH" title="MedGen record for Myopathy">Myopathy</a></span><ul><li><span class="TLline"><a href="/medgen/777997" ref="tree=MeSH" title="MedGen record for Actin accumulation myopathy">Actin accumulation myopathy</a></span></li><li><span class="TLline"><a href="/medgen/2455" ref="tree=MeSH" title="MedGen record for Arthrogryposis">Arthrogryposis</a></span></li><li><span class="TLline"><a href="/medgen/156267" ref="tree=MeSH" title="MedGen record for Atrophic muscular disease">Atrophic muscular disease</a></span></li><li><span class="TLline"><a href="/medgen/331805" ref="tree=MeSH" title="MedGen record for Bethlem myopathy">Bethlem myopathy</a></span></li><li><span class="TLline"><a href="/medgen/40417" ref="tree=MeSH" title="MedGen record for Compartment syndrome">Compartment syndrome</a></span></li><li><span class="TLline"><a href="/medgen/340597" ref="tree=MeSH" title="MedGen record for Congenital multicore myopathy with external ophthalmoplegia">Congenital multicore myopathy with external ophthalmoplegia</a></span></li><li><span class="TLline"><a href="/medgen/324513" ref="tree=MeSH" title="MedGen record for Congenital myopathy 23">Congenital myopathy 23</a></span></li><li><span class="TLline"><a href="/medgen/108177" ref="tree=MeSH" title="MedGen record for Congenital myopathy with fiber type disproportion">Congenital myopathy with fiber type disproportion</a></span></li><li><span class="TLline"><a href="/medgen/156050" ref="tree=MeSH" title="MedGen record for Congenital structural myopathy">Congenital structural myopathy</a></span></li><li><span class="TLline"><a href="/medgen/7749" ref="tree=MeSH" title="MedGen record for Cramp">Cramp</a></span></li><li><span class="TLline"><a href="/medgen/86881" ref="tree=MeSH" title="MedGen record for Craniomandibular Disorder">Craniomandibular Disorder</a></span></li><li><span class="TLline"><a href="/medgen/685768" ref="tree=MeSH" title="MedGen record for Critical illness myopathy">Critical illness myopathy</a></span></li><li><span class="TLline"><a href="/medgen/8331" ref="tree=MeSH" title="MedGen record for Dermatomyositis">Dermatomyositis</a></span></li><li><span class="TLline"><a href="/medgen/38987" ref="tree=MeSH" title="MedGen record for Eosinophilia myalgia syndrome">Eosinophilia myalgia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/18291" ref="tree=MeSH" title="MedGen record for Familial periodic paralysis">Familial periodic paralysis</a></span></li><li><span class="TLline"><a href="/medgen/42018" ref="tree=MeSH" title="MedGen record for Fibromyalgia">Fibromyalgia</a></span></li><li><span class="TLline"><a href="/medgen/381298" ref="tree=MeSH" title="MedGen record for GNE myopathy">GNE myopathy</a></span></li><li><span class="TLline"><a href="/medgen/148290" ref="tree=MeSH" title="MedGen record for Idiopathic inflammatory myopathy">Idiopathic inflammatory myopathy</a></span></li><li><span class="TLline"><a href="/medgen/1611049" ref="tree=MeSH" title="MedGen record for Inflammatory myopathy">Inflammatory myopathy</a></span></li><li><span class="TLline"><a href="/medgen/116151" ref="tree=MeSH" title="MedGen record for Isaac syndrome">Isaac syndrome</a></span></li><li><span class="TLline"><a href="/medgen/305587" ref="tree=MeSH" title="MedGen record for Medial tibial stress syndrome">Medial tibial stress syndrome</a></span></li><li><span class="TLline"><a href="/medgen/452364" ref="tree=MeSH" title="MedGen record for Metabolic myopathy">Metabolic myopathy</a></span></li><li><span class="TLline"><a href="/medgen/3227" ref="tree=MeSH" title="MedGen record for Muscle contracture">Muscle contracture</a></span></li><li><span class="TLline"><a href="/medgen/6472" ref="tree=MeSH" title="MedGen record for Musculoskeletal pain">Musculoskeletal pain</a></span></li><li><span class="TLline"><a href="/medgen/68541" ref="tree=MeSH" title="MedGen record for Myalgia">Myalgia</a></span></li><li><span class="TLline"><a href="/medgen/5130" ref="tree=MeSH" title="MedGen record for Myalgic encephalomeyelitis/chronic fatigue syndrome">Myalgic encephalomeyelitis/chronic fatigue syndrome</a></span></li><li><span class="TLline"><a href="/medgen/6496" ref="tree=MeSH" title="MedGen record for Myofascial pain syndrome">Myofascial pain syndrome</a></span></li><li><span class="TLline"><a href="/medgen/395532" ref="tree=MeSH" title="MedGen record for Myofibrillar myopathy">Myofibrillar myopathy</a></span></li><li><span class="TLline"><a href="/medgen/76477" ref="tree=MeSH" title="MedGen record for Myomatous neoplasm">Myomatous neoplasm</a></span></li><li><span class="TLline"><a href="/medgen/1712940" ref="tree=MeSH" title="MedGen record for Myopathy Secondary to Fatty Acid Oxidation Disorder">Myopathy Secondary to Fatty Acid Oxidation Disorder</a></span></li><li><span class="TLline"><a href="/medgen/1711004" ref="tree=MeSH" title="MedGen record for Myopathy Secondary to Glycogen Storage Disorder">Myopathy Secondary to Glycogen Storage Disorder</a></span></li><li><span class="TLline"><a href="/medgen/44564" ref="tree=MeSH" title="MedGen record for Myositis disease">Myositis disease</a></span></li><li><span class="TLline"><a href="/medgen/107510" ref="tree=MeSH" title="MedGen record for Myotonic syndrome">Myotonic syndrome</a></span></li><li><span class="TLline"><a href="/medgen/870175" ref="tree=MeSH" title="MedGen record for Necrotizing myopathy">Necrotizing myopathy</a></span></li><li><span class="TLline"><a href="/medgen/342534" ref="tree=MeSH" title="MedGen record for Nemaline myopathy 2">Nemaline myopathy 2</a></span></li><li><span class="TLline"><a href="/medgen/815539" ref="tree=MeSH" title="MedGen record for Nemaline myopathy 8">Nemaline myopathy 8</a></span></li><li><span class="TLline"><a href="/medgen/19393" ref="tree=MeSH" title="MedGen record for Polymyalgia rheumatica">Polymyalgia rheumatica</a></span></li><li><span class="TLline"><a href="/medgen/19775" ref="tree=MeSH" title="MedGen record for Rhabdomyolysis">Rhabdomyolysis</a></span></li><li><span class="TLline"><a href="/medgen/7752" ref="tree=MeSH" title="MedGen record for Rigidity">Rigidity</a></span></li><li><span class="TLline"><a href="/medgen/735900" ref="tree=MeSH" title="MedGen record for Skeletal myopathy">Skeletal myopathy</a></span></li><li><span class="TLline"><a href="/medgen/7753" ref="tree=MeSH" title="MedGen record for Spasticity">Spasticity</a></span></li><li><span class="TLline"><a href="/medgen/452365" ref="tree=MeSH" title="MedGen record for Steroid-induced myopathy">Steroid-induced myopathy</a></span></li><li><span class="TLline"><a href="/medgen/291538" ref="tree=MeSH" title="MedGen record for Tendinopathies">Tendinopathies</a></span></li><li><span class="TLline"><a href="/medgen/509650" ref="tree=MeSH" title="MedGen record for Toxic myopathy">Toxic myopathy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/909984" ref="tree=MeSH" title="MedGen record for Skeletal muscle fibrosis">Skeletal muscle fibrosis</a></span></li><li><span class="TLline"><a href="/medgen/1814215" ref="tree=MeSH" title="MedGen record for Skeletal muscle hyperechogenicity">Skeletal muscle hyperechogenicity</a></span></li><li><span class="TLline"><a href="/medgen/1383774" ref="tree=MeSH" title="MedGen record for Skeletal muscle steatosis">Skeletal muscle steatosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/893003" ref="tree=MeSH" title="MedGen record for Abnormality of occipitofrontalis muscle">Abnormality of occipitofrontalis muscle</a></span><ul><li><span class="TLline"><a href="/medgen/892665" ref="tree=MeSH" title="MedGen record for Abnormal frontalis muscle physiology">Abnormal frontalis muscle physiology</a></span><ul><li><span class="TLline"><a href="/medgen/1863798" ref="tree=MeSH" title="MedGen record for Frontalis muscle overactivity">Frontalis muscle overactivity</a></span></li><li><span class="TLline"><a href="/medgen/347143" ref="tree=MeSH" title="MedGen record for Frontalis muscle weakness">Frontalis muscle weakness</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet mgSection" id="ID_112">
<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="divPopper rprt" id="rdis_75566"><div><strong>Distichiasis-lymphedema syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75566</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.">C0265345</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Lymphedema-distichiasis syndrome (referred to as LDS in this GeneReview) is characterized by lower-limb lymphedema, and distichiasis (aberrant eyelashes ranging from a full set of extra eyelashes to a single hair). Lymphedema typically appears in late childhood or puberty, is confined to the lower limbs with or without involvement of the external genitalia, and is often asymmetric; severity varies within families. Males develop edema at an earlier age and have more problems with cellulitis than females. Distichiasis, which may be present at birth, is observed in 94% of affected individuals. About 75% of affected individuals have ocular findings including corneal irritation, recurrent conjunctivitis, and photophobia; other common findings include varicose veins and ptosis.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/75566">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_318554"><div><strong>Episodic ataxia type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>318554</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:">C1719788</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Episodic ataxia type 1 (EA1) is a potassium channelopathy characterized by constant myokymia and dramatic episodes of spastic contractions of the skeletal muscles of the head, arms, and legs with loss of both motor coordination and balance. During attacks individuals may experience a number of variable symptoms including vertigo, blurred vision, diplopia, nausea, headache, diaphoresis, clumsiness, stiffening of the body, dysarthric speech, and difficulty in breathing, among others. EA1 may be associated with epilepsy. Other possible associations include delayed motor development, cognitive disability, choreoathetosis, and carpal spasm. Usually, onset is in childhood or early adolescence.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/318554">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_318591"><div><strong>Familial partial lipodystrophy, Kobberling type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>318591</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.">C1720859</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Familial partial lipodystrophy type 1 (FPLD1), or Kobberling-type lipodystrophy, is characterized by loss of adipose tissue confined to the extremities, with normal or increased distribution of fat on the face, neck, and trunk (Kobberling and Dunnigan, 1986).&#13; For a general description and a discussion of genetic heterogeneity of familial partial lipodystrophy (FPLD), see 151660.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/318591">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_318882"><div><strong>Satoyoshi syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>318882</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.">C1833454</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Satoyoshi syndrome is a rare disorder characterized by progressive, painful, intermittent muscle spasms, diarrhea or unusual malabsorption, endocrinopathy with amenorrhea, and secondary skeletal abnormalities. The disorder is also called komuragaeri disease by the Japanese; in Japanese 'komura' means calf and 'gaeri' means 'turnover' or spasm. All cases have apparently been sporadic, even when occurring in large families (Ehlayel and Lacassie, 1995).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/318882">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_326416"><div><strong>Thrombocytopenia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326416</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.">C1839163</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The WAS-related disorders, which include Wiskott-Aldrich syndrome, X-linked thrombocytopenia (XLT), and X-linked neutropenia (XLN), are a spectrum of disorders of hematopoietic cells, with predominant defects of platelets and lymphocytes. Wiskott-Aldrich syndrome usually presents in infancy. Affected males have thrombocytopenia with intermittent mucosal bleeding, bloody diarrhea, and intermittent or chronic petechiae and purpura; recurrent bacterial, viral, fungal, and/or opportunistic infections; and eczema. Approximately 25%-40% of those who survive the early complications develop one or more autoimmune conditions including hemolytic anemia, immune thrombocytopenic purpura, immune-mediated neutropenia, vasculitis, rheumatoid arthritis, and immune-mediated damage to the kidneys and liver. Individuals with a WAS-related disorder, particularly those who have been exposed to Epstein-Barr virus (EBV), are at increased risk of developing lymphomas, which often occur in unusual extranodal locations including the brain, lung, or gastrointestinal tract. Males with XLT have small platelet volume and thrombocytopenia. Severe disease-related events include severe bleeding episodes (14%), autoimmunity (12%), life-threatening infections (7%), and malignancy (5%). Males with XLN typically have congenital neutropenia associated with myelodysplasia, hyperactive neutrophils, increased myeloid cell apoptosis, and lymphoid cell abnormalities.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/326416">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_376684"><div><strong>Peroneus tertius muscle, absence of</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376684</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.">C1850001</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/376684">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_347475"><div><strong>Cramps, familial adolescent</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347475</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.">C1857533</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/347475">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_349240"><div><strong>Polyneuropathy-hand defect syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349240</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.">C1859752</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Digital extensor muscle aplasia-polyneuropathy is a rare, hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/349240">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_418825"><div><strong>Cerebral cavernous malformation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>418825</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.">C2919945</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Familial cerebral cavernous malformations (FCCM) is a disorder characterized by multiple vascular lesions in the brain and spinal cord that consist of clustered, endothelial-lined caverns ranging in diameter from a few millimeters to several centimeters. Cerebral and/or spinal cavernous malformations may increase in number over time, and individual lesions may increase or decrease in size. The number of cerebral cavernous malformations (CCMs) identified in an individual ranges from one or two to hundreds of lesions (typical number 6-20 CCMs) depending on the individual's age and the quality and type of brain imaging used. Although CCMs have been reported in infants and children, the majority become evident between the second and fifth decades of life either incidentally or associated with seizures, focal neurologic deficits, headaches, and/or cerebral hemorrhage. Cutaneous vascular lesions are found in 9% and retinal vascular lesions in almost 5% of affected individuals. Up to 50% of individuals with FCCM remain symptom free throughout their lives.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/418825">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_418825" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral cavernous malformation</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347475" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cramps, familial adolescent</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75566" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Distichiasis-lymphedema syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_318554" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Episodic ataxia type 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_318591" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial partial lipodystrophy, Kobberling type</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (9)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376684" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peroneus tertius muscle, absence of</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_349240" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polyneuropathy-hand defect syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_318882" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Satoyoshi syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_326416" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thrombocytopenia 1</a></div></span></div></div>
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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/28223398">Exertional dyspnoea in interstitial lung diseases: the clinical utility of cardiopulmonary exercise testing.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bonini M,
Fiorenzano G</span><br />
<span class="medgenPMjournal">Eur Respir Rev</span>
2017 Jan;26(143)
Epub 2017 Feb 21
doi: 10.1183/16000617.0099-2016.
<span class="bold">PMID: </span><a href="/pubmed/28223398" target="_blank">28223398</a><a href="/pmc/articles/PMC9489119" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25822556">Diagnosis and treatment of temporomandibular disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gauer RL,
Semidey MJ</span><br />
<span class="medgenPMjournal">Am Fam Physician</span>
2015 Mar 15;91(6):378-86.
<span class="bold">PMID: </span><a href="/pubmed/25822556" target="_blank">25822556</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25103133">Management and prevention of bone stress injuries in long-distance runners.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Warden SJ,
Davis IS,
Fredericson M</span><br />
<span class="medgenPMjournal">J Orthop Sports Phys Ther</span>
2014 Oct;44(10):749-65.
Epub 2014 Aug 7
doi: 10.2519/jospt.2014.5334.
<span class="bold">PMID: </span><a href="/pubmed/25103133" target="_blank">25103133</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormality%20of%20the%20musculature)%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 (26)</a></div></div>
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<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
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<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">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/37591693">Reclassification of the HPGD p.Ala13Glu variant causing primary hypertrophic osteoarthropathy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Alban JJ,
Arango-Ramirez A,
Olave-Rodriguez JA,
Nastasi-Catanese JA,
Rodriguez LX</span><br />
<span class="medgenPMjournal">Cold Spring Harb Mol Case Stud</span>
2023 Dec;9(4)
Epub 2024 Jan 10
doi: 10.1101/mcs.a006291.
<span class="bold">PMID: </span><a href="/pubmed/37591693" target="_blank">37591693</a><a href="/pmc/articles/PMC10815292" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31127036">MYL2-associated congenital fiber-type disproportion and cardiomyopathy with variants in additional neuromuscular disease genes; the dilemma of panel testing.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Marttila M,
Win W,
Al-Ghamdi F,
Abdel-Hamid HZ,
Lacomis D,
Beggs AH</span><br />
<span class="medgenPMjournal">Cold Spring Harb Mol Case Stud</span>
2019 Aug;5(4)
Epub 2019 Aug 1
doi: 10.1101/mcs.a004184.
<span class="bold">PMID: </span><a href="/pubmed/31127036" target="_blank">31127036</a><a href="/pmc/articles/PMC6672024" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20musculature%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 (2)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/37591693">Reclassification of the HPGD p.Ala13Glu variant causing primary hypertrophic osteoarthropathy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Alban JJ,
Arango-Ramirez A,
Olave-Rodriguez JA,
Nastasi-Catanese JA,
Rodriguez LX</span><br />
<span class="medgenPMjournal">Cold Spring Harb Mol Case Stud</span>
2023 Dec;9(4)
Epub 2024 Jan 10
doi: 10.1101/mcs.a006291.
<span class="bold">PMID: </span><a href="/pubmed/37591693" target="_blank">37591693</a><a href="/pmc/articles/PMC10815292" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36997313">Progressive metastatic infantile fibrosarcoma with multiple acquired mutations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Furtado LV,
Kacar M,
Mostafavi R,
Shi Z,
Ruiz R,
Koo SC,
Santiago T,
Segers B,
Krasin MJ,
Abramson ZR,
Shulkin B,
Talbot LJ,
Pappo A,
Gartrell J</span><br />
<span class="medgenPMjournal">Cold Spring Harb Mol Case Stud</span>
2023 Apr;9(2)
Epub 2023 May 9
doi: 10.1101/mcs.a006277.
<span class="bold">PMID: </span><a href="/pubmed/36997313" target="_blank">36997313</a><a href="/pmc/articles/PMC10240842" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20musculature%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 (2)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/37591693">Reclassification of the HPGD p.Ala13Glu variant causing primary hypertrophic osteoarthropathy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Alban JJ,
Arango-Ramirez A,
Olave-Rodriguez JA,
Nastasi-Catanese JA,
Rodriguez LX</span><br />
<span class="medgenPMjournal">Cold Spring Harb Mol Case Stud</span>
2023 Dec;9(4)
Epub 2024 Jan 10
doi: 10.1101/mcs.a006291.
<span class="bold">PMID: </span><a href="/pubmed/37591693" target="_blank">37591693</a><a href="/pmc/articles/PMC10815292" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20the%20musculature%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 (1)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4021745%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (5)</a></li>
<li><a href="/gtr/tests?term=C4021745%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (5)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4021745%5bDISCUI%5d" target="_blank">See all (5)</a></total></li>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormality%20of%20the%20musculature)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Abnormality%20of%20the%20musculature%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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