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<!--
|
||
UID=811969
|
||
ConceptID=C3805639
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Generalized muscle hypertrophy</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811969</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.">C3805639</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Generalised increase in muscle cell size; Generalised muscle hypertrophy; Generalized increase in muscle cell size</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:0003720">HP:0003720</a></td></tr>
|
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</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Hypertrophy (increase in size) of muscle tissue in a generalized (not localized) distribution. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
||
</div>
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||
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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>
|
||
<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 unavailable round" title="Clinical test">C</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 unavailable" title="ClinVar">V</span></span><span class="TLline">Generalized muscle hypertrophy</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="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/853739" ref="tree=MeSH" title="MedGen record for Skeletal muscle hypertrophy">Skeletal muscle hypertrophy</a></span><ul><li><span class="matched_ds">Generalized muscle hypertrophy</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<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>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_167103"><div><strong>Myhre syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>167103</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.">C0796081</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Myhre syndrome is a multisystem progressive connective tissue disorder that often results in significant complications. The highly distinctive (and often severe) findings of joint stiffness, restrictive lung and cardiovascular disease, progressive and proliferative fibrosis, and thickening of the skin usually occur spontaneously. Some proliferation such as abnormal scarring or adhesions may follow trauma, invasive medical procedures, or surgery. Effusions of the heart, airways, lungs, uterus, and peritoneum may occur and can progress to fibrosis. Most affected individuals have characteristic facial features (short palpebral fissures, deeply set eyes, maxillary underdevelopment, short philtrum, thin vermilion of the upper lip, narrow mouth, and prognathism) and developmental delay / cognitive disability, typically in the mild-to-moderate range. Neurobehavioral issues may include autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), and/or anxiety. Although immunoglobulin (Ig) G and IgA deficiency are rare, affected individuals can experience recurrent infections (including otitis media, sinusitis, mastoiditis, or croup). Hearing loss can progress over time. Growth may be impaired in early life. Most adolescents develop obesity. Eye findings can include refractive errors, astigmatism, corectopia, and optic nerve anomalies. Gastrointestinal (GI) issues may include gastroesophageal reflux disease, constipation, and encopresis. Less commonly, stenosis of the GI tract, Hirschsprung disease, and/or metabolic dysfunction-associated liver disease may be observed.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/167103">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_341067"><div><strong>Mowat-Wilson syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341067</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."><span class="highlight" style="background-color:">C1856113</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mowat-Wilson syndrome (MWS) is characterized by distinctive facial features (widely spaced eyes, broad eyebrows with a medial flare, low-hanging columella, prominent or pointed chin, open-mouth expression, and uplifted earlobes with a central depression), congenital heart defects with predilection for abnormalities of the pulmonary arteries and/or valves, Hirschsprung disease or chronic constipation, genitourinary anomalies (particularly hypospadias in males), and hypogenesis or agenesis of the corpus callosum. Most affected individuals have moderate-to-severe intellectual disability. Speech is typically limited to a few words or is absent, with relative preservation of receptive language skills. Growth restriction with microcephaly and seizure disorder are also common. Most affected people have a happy demeanor and a wide-based gait that can sometimes be confused with Angelman syndrome.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341067">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_346746"><div><strong>Congenital muscular dystrophy 1B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346746</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.">C1858118</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare genetic neuromuscular disorder characterized by proximal and symmetrical muscle weakness (particularly of neck, sternomastoid, facial and diaphragm muscles), spinal rigidity, joint contractures (Achilles tendon, elbows, hands), generalized muscle hypertrophy and early respiratory failure (usually in the first decade of life). Patients typically present delayed motor milestones and grossly elevated serum creatine kinase levels, and with disease progression, forced expiratory abdominal squeeze and nocturnal hypoventilation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/346746">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_346746" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital muscular dystrophy 1B</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341067" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mowat-Wilson syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_167103" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myhre syndrome</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35408946">Pathophysiology and Treatment of Diabetic Cardiomyopathy and Heart Failure in Patients with Diabetes Mellitus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nakamura K,
|
||
Miyoshi T,
|
||
Yoshida M,
|
||
Akagi S,
|
||
Saito Y,
|
||
Ejiri K,
|
||
Matsuo N,
|
||
Ichikawa K,
|
||
Iwasaki K,
|
||
Naito T,
|
||
Namba Y,
|
||
Yoshida M,
|
||
Sugiyama H,
|
||
Ito H</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2022 Mar 25;23(7)
|
||
doi: 10.3390/ijms23073587.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35408946" target="_blank">35408946</a><a href="/pmc/articles/PMC8999085" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32417255">Role of damage and management in muscle hypertrophy: Different behaviors of muscle stem cells in regeneration and hypertrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fukada SI,
|
||
Akimoto T,
|
||
Sotiropoulos A</span><br />
|
||
<span class="medgenPMjournal">Biochim Biophys Acta Mol Cell Res</span>
|
||
2020 Sep;1867(9):118742.
|
||
Epub 2020 May 14
|
||
doi: 10.1016/j.bbamcr.2020.118742.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32417255" target="_blank">32417255</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19204579">American College of Sports Medicine position stand. Progression models in resistance training for healthy adults.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">American College of Sports Medicine</span><br />
|
||
<span class="medgenPMjournal">Med Sci Sports Exerc</span>
|
||
2009 Mar;41(3):687-708.
|
||
doi: 10.1249/MSS.0b013e3181915670.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19204579" target="_blank">19204579</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(generalized%20muscle%20hypertrophy)%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 (52)</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/17932099">Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fialho D,
|
||
Schorge S,
|
||
Pucovska U,
|
||
Davies NP,
|
||
Labrum R,
|
||
Haworth A,
|
||
Stanley E,
|
||
Sud R,
|
||
Wakeling W,
|
||
Davis MB,
|
||
Kullmann DM,
|
||
Hanna MG</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2007 Dec;130(Pt 12):3265-74.
|
||
Epub 2007 Oct 11
|
||
doi: 10.1093/brain/awm248.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17932099" target="_blank">17932099</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Generalized%20muscle%20hypertrophy%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 (1)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27164696">Translational approach to address therapy in myotonia permanens due to a new SCN4A mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Desaphy JF,
|
||
Carbonara R,
|
||
D'Amico A,
|
||
Modoni A,
|
||
Roussel J,
|
||
Imbrici P,
|
||
Pagliarani S,
|
||
Lucchiari S,
|
||
Lo Monaco M,
|
||
Conte Camerino D</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2016 May 31;86(22):2100-8.
|
||
Epub 2016 Apr 29
|
||
doi: 10.1212/WNL.0000000000002721.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27164696" target="_blank">27164696</a><a href="/pmc/articles/PMC4891212" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26636501">Severe constipation in a patient with Myhre syndrome: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bassett JK,
|
||
Douzgou S,
|
||
Kerr B</span><br />
|
||
<span class="medgenPMjournal">Clin Dysmorphol</span>
|
||
2016 Apr;25(2):54-7.
|
||
doi: 10.1097/MCD.0000000000000109.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26636501" target="_blank">26636501</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25311598">Mutations in SCN4A: a rare but treatable cause of recurrent life-threatening laryngospasm.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Singh RR,
|
||
Tan SV,
|
||
Hanna MG,
|
||
Robb SA,
|
||
Clarke A,
|
||
Jungbluth H</span><br />
|
||
<span class="medgenPMjournal">Pediatrics</span>
|
||
2014 Nov;134(5):e1447-50.
|
||
Epub 2014 Oct 13
|
||
doi: 10.1542/peds.2013-3727.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25311598" target="_blank">25311598</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17932099">Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fialho D,
|
||
Schorge S,
|
||
Pucovska U,
|
||
Davies NP,
|
||
Labrum R,
|
||
Haworth A,
|
||
Stanley E,
|
||
Sud R,
|
||
Wakeling W,
|
||
Davis MB,
|
||
Kullmann DM,
|
||
Hanna MG</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2007 Dec;130(Pt 12):3265-74.
|
||
Epub 2007 Oct 11
|
||
doi: 10.1093/brain/awm248.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17932099" target="_blank">17932099</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11310994">A new case of Myhre syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Whiteford ML,
|
||
Doig WB,
|
||
Raine PA,
|
||
Hollman AS,
|
||
Tolmie JL</span><br />
|
||
<span class="medgenPMjournal">Clin Dysmorphol</span>
|
||
2001 Apr;10(2):135-40.
|
||
doi: 10.1097/00019605-200104000-00011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11310994" target="_blank">11310994</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Generalized%20muscle%20hypertrophy%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 (5)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27164696">Translational approach to address therapy in myotonia permanens due to a new SCN4A mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Desaphy JF,
|
||
Carbonara R,
|
||
D'Amico A,
|
||
Modoni A,
|
||
Roussel J,
|
||
Imbrici P,
|
||
Pagliarani S,
|
||
Lucchiari S,
|
||
Lo Monaco M,
|
||
Conte Camerino D</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2016 May 31;86(22):2100-8.
|
||
Epub 2016 Apr 29
|
||
doi: 10.1212/WNL.0000000000002721.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27164696" target="_blank">27164696</a><a href="/pmc/articles/PMC4891212" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15891144">Case report: acquired progressive muscular hypertrophy and trichinosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chotmongkol V,
|
||
Intapan PM,
|
||
Koonmee S,
|
||
Kularbkaew C,
|
||
Aungaree T</span><br />
|
||
<span class="medgenPMjournal">Am J Trop Med Hyg</span>
|
||
2005 May;72(5):649-50.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15891144" target="_blank">15891144</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Generalized%20muscle%20hypertrophy%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/17932099">Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fialho D,
|
||
Schorge S,
|
||
Pucovska U,
|
||
Davies NP,
|
||
Labrum R,
|
||
Haworth A,
|
||
Stanley E,
|
||
Sud R,
|
||
Wakeling W,
|
||
Davis MB,
|
||
Kullmann DM,
|
||
Hanna MG</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2007 Dec;130(Pt 12):3265-74.
|
||
Epub 2007 Oct 11
|
||
doi: 10.1093/brain/awm248.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17932099" target="_blank">17932099</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Generalized%20muscle%20hypertrophy%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 (1)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27164696">Translational approach to address therapy in myotonia permanens due to a new SCN4A mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Desaphy JF,
|
||
Carbonara R,
|
||
D'Amico A,
|
||
Modoni A,
|
||
Roussel J,
|
||
Imbrici P,
|
||
Pagliarani S,
|
||
Lucchiari S,
|
||
Lo Monaco M,
|
||
Conte Camerino D</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2016 May 31;86(22):2100-8.
|
||
Epub 2016 Apr 29
|
||
doi: 10.1212/WNL.0000000000002721.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27164696" target="_blank">27164696</a><a href="/pmc/articles/PMC4891212" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17932099">Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fialho D,
|
||
Schorge S,
|
||
Pucovska U,
|
||
Davies NP,
|
||
Labrum R,
|
||
Haworth A,
|
||
Stanley E,
|
||
Sud R,
|
||
Wakeling W,
|
||
Davis MB,
|
||
Kullmann DM,
|
||
Hanna MG</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2007 Dec;130(Pt 12):3265-74.
|
||
Epub 2007 Oct 11
|
||
doi: 10.1093/brain/awm248.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17932099" target="_blank">17932099</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10677302">Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brockington M,
|
||
Sewry CA,
|
||
Herrmann R,
|
||
Naom I,
|
||
Dearlove A,
|
||
Rhodes M,
|
||
Topaloglu H,
|
||
Dubowitz V,
|
||
Voit T,
|
||
Muntoni F</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2000 Feb;66(2):428-35.
|
||
doi: 10.1086/302775.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10677302" target="_blank">10677302</a><a href="/pmc/articles/PMC1288095" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/632828">Schwartz-Jampel syndrome. Clinical, electrophysiological and histopathological study of a severe variant.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cao A,
|
||
Cianchetti C,
|
||
Calisti L,
|
||
de Virgiliis S,
|
||
Ferreli A,
|
||
Tangheroni W</span><br />
|
||
<span class="medgenPMjournal">J Neurol Sci</span>
|
||
1978 Feb;35(2-3):175-87.
|
||
doi: 10.1016/0022-510x(78)90001-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/632828" target="_blank">632828</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Generalized%20muscle%20hypertrophy%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 (4)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
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|
||
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|
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|
||
<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Generalized%20muscle%20hypertrophy" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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