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<meta name="keywords" content="C0162670, disease or syndrome, inborn mitochondrial myopathy, mitochondrial cytopathy, mitochondrial myopathies, mitochondrial myopathy, mt-tw, myopathies, mitochondrial, myopathy, mitochondrial, ragged red myopathy, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="A type of myopathy associated with mitochondrial disease and characterized by findings on biopsy such as ragged red muscle fibers." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=56484
|
||
ConceptID=C0162670
|
||
-->
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||
<!--imgCountBooks = 1--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Image</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1224/bin/mt-overview-Image001.gif" src-large="/books/NBK1224/bin/mt-overview-Image001.jpg" /></a><br /><a href="/books/NBK1224/figure/mt-overview.F1/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Inborn mitochondrial myopathy</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56484</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:">C0162670</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Mitochondrial Myopathies; Mitochondrial myopathy</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Mitochondrial myopathy (16851005); Ragged red myopathy (16851005)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="MT-TW - ID: 4578 - NCBI Gene" href="/gene/4578" class="medgenPMinfo">MT-TW</a></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0003737">HP:0003737</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0009637" target="_blank">MONDO:0009637</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/590000" target="_blank">590000</a>; <a href="https://omim.org/entry/590055" target="_blank">590055</a>; <a href="https://omim.org/entry/590065" target="_blank">590065</a>; <a href="https://omim.org/entry/590095" target="_blank">590095</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=206966">ORPHA206966</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>
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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">A type of myopathy associated with mitochondrial disease and characterized by findings on biopsy such as ragged red muscle fibers. [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><li><a href="#tabORDO">Orphanet</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=C0162670[DISCUI]&test_type=Clinical" ref="ncbi_uid=56484">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=56484" target="_blank" href="/omim/590000">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1224/" ref="ncbi_uid=56484">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=56484" ref="ncbi_uid=56484">V</a></span></span><span class="TLline">Inborn mitochondrial myopathy</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/10135" ref="tree=MeSH" title="MedGen record for Myopathy">Myopathy</a></span><ul><li><span class="TLline"><a href="/medgen/156050" ref="tree=MeSH" title="MedGen record for Congenital structural myopathy">Congenital structural myopathy</a></span><ul><li><span class="matched_ds">Inborn mitochondrial myopathy</span><ul><li><span class="TLline"><a href="/medgen/107893" ref="tree=MeSH" title="MedGen record for 3-Methylglutaconic aciduria type 2">3-Methylglutaconic aciduria type 2</a></span></li><li><span class="TLline"><a href="/medgen/444140" ref="tree=MeSH" title="MedGen record for Adenosine monophosphate deaminase deficiency">Adenosine monophosphate deaminase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1393682" ref="tree=MeSH" title="MedGen record for Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy">Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy</a></span></li><li><span class="TLline"><a href="/medgen/863950" ref="tree=MeSH" title="MedGen record for Autosomal dominant mitochondrial myopathy with exercise intolerance">Autosomal dominant mitochondrial myopathy with exercise intolerance</a></span></li><li><span class="TLline"><a href="/medgen/416525" ref="tree=MeSH" title="MedGen record for Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome">Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome</a></span></li><li><span class="TLline"><a href="/medgen/9618" ref="tree=MeSH" title="MedGen record for Kearns-Sayre syndrome">Kearns-Sayre syndrome</a></span></li><li><span class="TLline"><a href="/medgen/374077" ref="tree=MeSH" title="MedGen record for Lethal infantile mitochondrial myopathy">Lethal infantile mitochondrial myopathy</a></span></li><li><span class="TLline"><a href="/medgen/1565381" ref="tree=MeSH" title="MedGen record for Maternally-inherited progressive external ophthalmoplegia">Maternally-inherited progressive external ophthalmoplegia</a></span></li><li><span class="TLline"><a href="/medgen/56485" ref="tree=MeSH" title="MedGen record for MELAS syndrome">MELAS syndrome</a></span></li><li><span class="TLline"><a href="/medgen/56486" ref="tree=MeSH" title="MedGen record for MERRF syndrome">MERRF syndrome</a></span></li><li><span class="TLline"><a href="/medgen/374101" ref="tree=MeSH" title="MedGen record for Mitochondrial complex I deficiency">Mitochondrial complex I deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/1648371" ref="tree=MeSH" title="MedGen record for Mitochondrial complex 1 deficiency, mitochondrial type 1">Mitochondrial complex 1 deficiency, mitochondrial type 1</a></span></li><li><span class="TLline"><a href="/medgen/940569" ref="tree=MeSH" title="MedGen record for Mitochondrial complex I deficiency, nuclear type 1">Mitochondrial complex I deficiency, nuclear type 1</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1814582" ref="tree=MeSH" title="MedGen record for Mitochondrial complex II deficiency, nuclear type 1">Mitochondrial complex II deficiency, nuclear type 1</a></span></li><li><span class="TLline"><a href="/medgen/767513" ref="tree=MeSH" title="MedGen record for Mitochondrial DNA deletion syndrome with progressive myopathy">Mitochondrial DNA deletion syndrome with progressive myopathy</a></span></li><li><span class="TLline"><a href="/medgen/767376" ref="tree=MeSH" title="MedGen record for Mitochondrial DNA depletion syndrome 11">Mitochondrial DNA depletion syndrome 11</a></span></li><li><span class="TLline"><a href="/medgen/461100" ref="tree=MeSH" title="MedGen record for Mitochondrial DNA depletion syndrome, myopathic form">Mitochondrial DNA depletion syndrome, myopathic form</a></span></li><li><span class="TLline"><a href="/medgen/57960" ref="tree=MeSH" title="MedGen record for Mitochondrial encephalomyopathy">Mitochondrial encephalomyopathy</a></span></li><li><span class="TLline"><a href="/medgen/1620960" ref="tree=MeSH" title="MedGen record for Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome">Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/343245" ref="tree=MeSH" title="MedGen record for Mitochondrial myopathy-lactic acidosis-deafness syndrome">Mitochondrial myopathy-lactic acidosis-deafness syndrome</a></span></li><li><span class="TLline"><a href="/medgen/167876" ref="tree=MeSH" title="MedGen record for Mitochondrial neurogastrointestinal encephalomyopathy">Mitochondrial neurogastrointestinal encephalomyopathy</a></span></li><li><span class="TLline"><a href="/medgen/370665" ref="tree=MeSH" title="MedGen record for Mitochondrial trifunctional protein deficiency">Mitochondrial trifunctional protein deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/1053401" ref="tree=MeSH" title="MedGen record for Mitochondrial trifunctional protein deficiency 1">Mitochondrial trifunctional protein deficiency 1</a></span></li><li><span class="TLline"><a href="/medgen/1841010" ref="tree=MeSH" title="MedGen record for Mitochondrial trifunctional protein deficiency 2">Mitochondrial trifunctional protein deficiency 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/373888" ref="tree=MeSH" title="MedGen record for Myopathy, lactic acidosis, and sideroblastic anemia">Myopathy, lactic acidosis, and sideroblastic anemia</a></span><ul><li><span class="TLline"><a href="/medgen/1634824" ref="tree=MeSH" title="MedGen record for Myopathy, lactic acidosis, and sideroblastic anemia 1">Myopathy, lactic acidosis, and sideroblastic anemia 1</a></span></li><li><span class="TLline"><a href="/medgen/462152" ref="tree=MeSH" title="MedGen record for Myopathy, lactic acidosis, and sideroblastic anemia 2">Myopathy, lactic acidosis, and sideroblastic anemia 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/102439" ref="tree=MeSH" title="MedGen record for Progressive external ophthalmoplegia">Progressive external ophthalmoplegia</a></span><ul><li><span class="TLline"><a href="/medgen/1686757" ref="tree=MeSH" title="MedGen record for Autosomal dominant progressive external ophthalmoplegia">Autosomal dominant progressive external ophthalmoplegia</a></span><ul><li><span class="TLline"><a href="/medgen/371919" ref="tree=MeSH" title="MedGen record for Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1">Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/340509" ref="tree=MeSH" title="MedGen record for Autosomal recessive progressive external ophthalmoplegia">Autosomal recessive progressive external ophthalmoplegia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/934700" ref="tree=MeSH" title="MedGen record for Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4">Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4</a></span></li><li><span class="TLline"><a href="/medgen/375302" ref="tree=MeSH" title="MedGen record for Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis">Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=18555&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Inborn mitochondrial myopathy</span> in Orphanet.</div></div></div>
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<div class="portlet mgSection" id="ID_112">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="divPopper rprt" id="rdis_56485"><div><strong>MELAS syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56485</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.">C0162671</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) is a multisystem disorder with protean manifestations. The vast majority of affected individuals develop signs and symptoms of MELAS between ages two and 40 years. Common clinical manifestations include stroke-like episodes, encephalopathy with seizures and/or dementia, muscle weakness and exercise intolerance, normal early psychomotor development, recurrent headaches, recurrent vomiting, hearing impairment, peripheral neuropathy, learning disability, and short stature. During the stroke-like episodes neuroimaging shows increased T2-weighted signal areas that do not correspond to the classic vascular distribution (hence the term "stroke-like"). Lactic acidemia is very common and muscle biopsies typically show ragged red fibers.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/56485">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_69128"><div><strong>Elevated circulating creatine kinase concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>69128</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0241005</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/69128">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_231285"><div><strong>NARP syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>231285</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.">C1328349</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Mitochondrial DNA-associated Leigh syndrome spectrum (mtDNA-LSS) is part of a continuum of progressive neurodegenerative disorders caused by abnormalities of mitochondrial energy generation, which includes the overlapping phenotypes mtDNA-associated Leigh syndrome and mtDNA-associated Leigh-like syndrome. Mitochondrial DNA-LSS is characterized by onset of manifestations typically between ages three and 12 months, often following an intercurrent illness (usually viral) or metabolic challenge (vaccinations, surgery, prolonged fasting). Decompensation (often with elevated lactate levels in blood and/or cerebrospinal fluid) is typically associated with developmental delay and/or regression. Neurologic features include hypotonia, spasticity, seizures, movement disorders, cerebellar ataxia, and peripheral neuropathy. Brain stem dysfunction may manifest with respiratory symptoms, swallowing difficulties, ophthalmoparesis, and abnormalities in thermoregulation. Extraneurologic manifestations may include poor weight gain, cardiomyopathy, and conduction defects. Up to 50% of individuals die by age three years, most often from respiratory or cardiac failure.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/231285">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_333236"><div><strong>Mitochondrial myopathy with diabetes</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333236</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.">C1839028</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A rare, genetic, mitochondrial DNA-related mitochondrial myopathy disorder characterized by slowly progressive muscular weakness (proximal greater than distal), predominantly involving the facial muscles and scapular girdle, associated with insulin-dependent diabetes mellitus. Neurological involvement and congenital myopathy may be variably observed.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/333236">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_342573"><div><strong>Hereditary myopathy with lactic acidosis due to ISCU deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342573</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.">C1850718</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Hereditary myopathy with lactic acidosis (HML) is an autosomal recessive muscular disorder characterized by childhood onset of exercise intolerance with muscle tenderness, cramping, dyspnea, and palpitations. Biochemical features include lactic acidosis and, rarely, rhabdomyolysis. It is a chronic disorder with remission and exacerbation of the muscle phenotype (summary by Sanaker et al., 2010).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/342573">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_343245"><div><strong>Mitochondrial myopathy-lactic acidosis-deafness syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343245</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.">C1855033</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A rare metabolic myopathy presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/343245">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_381541"><div><strong>Mitochondrial myopathy with a defect in mitochondrial-protein transport</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381541</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.">C1855034</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/381541">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_395228"><div><strong>Sengers syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395228</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.">C1859317</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Sengers syndrome is an autosomal recessive mitochondrial disorder characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis. Mental development is normal, but affected individuals may die early from cardiomyopathy (summary by Mayr et al., 2012). Skeletal muscle biopsies of 2 affected individuals showed severe mtDNA depletion (Calvo et al., 2012).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/395228">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_462264"><div><strong>Mitochondrial DNA depletion syndrome 4b</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462264</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.">C3150914</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">POLG-related disorders comprise a continuum of overlapping phenotypes that were clinically defined before the molecular basis was known. POLG-related disorders can therefore be considered an overlapping spectrum of disease presenting from early childhood to late adulthood. The age of onset broadly correlates with the clinical phenotype. In individuals with early-onset disease (prior to age 12 years), liver involvement, feeding difficulties, seizures, hypotonia, and muscle weakness are the most common clinical features. This group has the worst prognosis. In the juvenile/adult-onset form (age 12-40 years), disease is typically characterized by peripheral neuropathy, ataxia, seizures, stroke-like episodes, and, in individuals with longer survival, progressive external ophthalmoplegia (PEO). This group generally has a better prognosis than the early-onset group. Late-onset disease (after age 40 years) is characterized by ptosis and PEO, with additional features such as peripheral neuropathy, ataxia, and muscle weakness. This group overall has the best prognosis.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/462264">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_463248"><div><strong>Mitochondrial myopathy with reversible cytochrome C oxidase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>463248</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.">C3151898</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Infantile mitochondrial myopathy due to reversible COX deficiency is a rare mitochondrial disorder characterized by onset in infancy of severe hypotonia and generalized muscle weakness associated with lactic acidosis, but is distinguished from other mitochondrial disorders in that affected individuals recover spontaneously after 1 year of age (summary by Mimaki et al., 2010). See also transient infantile liver failure (LFIT; 613070), which is a similar disorder.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/463248">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_897191"><div><strong>Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>897191</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.">C4225153</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">POLG-related disorders comprise a continuum of overlapping phenotypes that were clinically defined before the molecular basis was known. POLG-related disorders can therefore be considered an overlapping spectrum of disease presenting from early childhood to late adulthood. The age of onset broadly correlates with the clinical phenotype. In individuals with early-onset disease (prior to age 12 years), liver involvement, feeding difficulties, seizures, hypotonia, and muscle weakness are the most common clinical features. This group has the worst prognosis. In the juvenile/adult-onset form (age 12-40 years), disease is typically characterized by peripheral neuropathy, ataxia, seizures, stroke-like episodes, and, in individuals with longer survival, progressive external ophthalmoplegia (PEO). This group generally has a better prognosis than the early-onset group. Late-onset disease (after age 40 years) is characterized by ptosis and PEO, with additional features such as peripheral neuropathy, ataxia, and muscle weakness. This group overall has the best prognosis.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/897191">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_934701"><div><strong>Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934701</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.">C4310734</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the TK2 gene.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/934701">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1631838"><div><strong>Mitochondrial DNA depletion syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1631838</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.">C4551995</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease is characterized by progressive gastrointestinal dysmotility (manifesting as early satiety, nausea, dysphagia, gastroesophageal reflux, postprandial emesis, episodic abdominal pain and/or distention, and diarrhea); cachexia; ptosis/ophthalmoplegia or ophthalmoparesis; leukoencephalopathy; and demyelinating peripheral neuropathy (manifesting as paresthesias (tingling, numbness, and pain) and symmetric and distal weakness more prominently affecting the lower extremities). The order in which manifestations appear is unpredictable. Onset is usually between the first and fifth decades; in about 60% of individuals, symptoms begin before age 20 years.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1631838">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1679560"><div><strong>Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1679560</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.">C5193223</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Episodic mitochondrial myopathy with or without optic atrophy and reversible leukoencephalopathy (MEOAL) is an autosomal recessive neuromuscular disorder characterized mainly by childhood onset of progressive muscle weakness and exercise intolerance. Patients have episodic exacerbation, which may be associated with increased serum creatine kinase or lactic acid. Additional more variable features may include optic atrophy, reversible leukoencephalopathy, and later onset of a sensorimotor polyneuropathy. The disorder results from impaired formation of Fe-S clusters, which are essential cofactors for proper mitochondrial function (summary by Gurgel-Giannetti et al., 2018)</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1679560">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_69128" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating creatine kinase concentration</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_342573" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary myopathy with lactic acidosis due to ISCU deficiency</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_56485" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">MELAS syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1631838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial DNA depletion syndrome 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462264" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial DNA depletion syndrome 4b</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (14)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_381541" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial myopathy with a defect in mitochondrial-protein transport</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_333236" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial myopathy with diabetes</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_463248" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial myopathy with reversible cytochrome C oxidase deficiency</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1679560" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343245" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial myopathy-lactic acidosis-deafness syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_231285" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">NARP syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_897191" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934701" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_395228" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sengers syndrome</a></div></span></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/37226557">Diagnosis and management of metabolic myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bhai SF,
|
||
Vissing J</span><br />
|
||
<span class="medgenPMjournal">Muscle Nerve</span>
|
||
2023 Sep;68(3):250-256.
|
||
Epub 2023 May 25
|
||
doi: 10.1002/mus.27840.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37226557" target="_blank">37226557</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36161784">Expert consensus on diagnosis and treatment of very long-chain acyl-CoA dehydrogenase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Division of Biochemistry and Metabolism, Medical Genetics Branch, Chinese Medical Association,
|
||
Division of Genetics and Metabolism, Child Diseases and Health Care Branch, Chinese Association for Maternal and Child Health</span><br />
|
||
<span class="medgenPMjournal">Zhejiang Da Xue Xue Bao Yi Xue Ban</span>
|
||
2022 Feb 25;51(1):122-128.
|
||
doi: 10.3724/zdxbyxb-2022-0107.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36161784" target="_blank">36161784</a><a href="/pmc/articles/PMC9109756" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33969514">Successful plasmapheresis and immunoglobulin treatment for severe lipid storage myopathy: Doing the right thing for the wrong reason.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kleefeld F,
|
||
von Renesse A,
|
||
Dittmayer C,
|
||
Harms L,
|
||
Radke J,
|
||
Radbruch H,
|
||
Goebel HH,
|
||
Pache F,
|
||
Schneider U,
|
||
Schuelke M,
|
||
Uruha A,
|
||
Stenzel W</span><br />
|
||
<span class="medgenPMjournal">Neuropathol Appl Neurobiol</span>
|
||
2022 Feb;48(1):e12731.
|
||
Epub 2021 May 21
|
||
doi: 10.1111/nan.12731.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33969514" target="_blank">33969514</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(inborn%20mitochondrial%20myopathy)%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 (18)</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/39053894">Pathological variants in nuclear genes causing mitochondrial complex III deficiency: An update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Čunátová K,
|
||
Fernández-Vizarra E</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2024 Nov;47(6):1278-1291.
|
||
Epub 2024 Jul 25
|
||
doi: 10.1002/jimd.12751.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39053894" target="_blank">39053894</a><a href="/pmc/articles/PMC11586608" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35971028">Genetic diversity in Kashubs: the regional increase in the frequency of several disease-causing variants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jankowski M,
|
||
Daca-Roszak P,
|
||
Obracht-Prondzyński C,
|
||
Płoski R,
|
||
Lipska-Ziętkiewicz BS,
|
||
Ziętkiewicz E</span><br />
|
||
<span class="medgenPMjournal">J Appl Genet</span>
|
||
2022 Dec;63(4):691-701.
|
||
Epub 2022 Aug 15
|
||
doi: 10.1007/s13353-022-00713-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35971028" target="_blank">35971028</a><a href="/pmc/articles/PMC9637066" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22946725">Complex single gene disorders and epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Merwick A,
|
||
O'Brien M,
|
||
Delanty N</span><br />
|
||
<span class="medgenPMjournal">Epilepsia</span>
|
||
2012 Sep;53 Suppl 4:81-91.
|
||
doi: 10.1111/j.1528-1167.2012.03617.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22946725" target="_blank">22946725</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11073358">Mitochondrial disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schapira AH</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Neurol</span>
|
||
2000 Oct;13(5):527-32.
|
||
doi: 10.1097/00019052-200010000-00004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11073358" target="_blank">11073358</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2824920">Mitochondrial myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">DiMauro S,
|
||
Bonilla E,
|
||
Zeviani M,
|
||
Servidei S,
|
||
DeVivo DC,
|
||
Schon EA</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
1987;10 Suppl 1:113-28.
|
||
doi: 10.1007/BF01812852.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2824920" target="_blank">2824920</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Inborn%20mitochondrial%20myopathy%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (114)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36537979">Metabolic Myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tarnopolsky MA</span><br />
|
||
<span class="medgenPMjournal">Continuum (Minneap Minn)</span>
|
||
2022 Dec 1;28(6):1752-1777.
|
||
doi: 10.1212/CON.0000000000001182.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36537979" target="_blank">36537979</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36253820">Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yoshimi A,
|
||
Ishikawa K,
|
||
Niemeyer C,
|
||
Grünert SC</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2022 Oct 17;17(1):379.
|
||
doi: 10.1186/s13023-022-02538-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36253820" target="_blank">36253820</a><a href="/pmc/articles/PMC9575259" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31500110">Carnitine Inborn Errors of Metabolism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Almannai M,
|
||
Alfadhel M,
|
||
El-Hattab AW</span><br />
|
||
<span class="medgenPMjournal">Molecules</span>
|
||
2019 Sep 6;24(18)
|
||
doi: 10.3390/molecules24183251.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31500110" target="_blank">31500110</a><a href="/pmc/articles/PMC6766900" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12536154">Genetic neuromuscular disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reilly MM,
|
||
Hanna MG</span><br />
|
||
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
|
||
2002 Dec;73 Suppl 2(Suppl 2):II12-21.
|
||
doi: 10.1136/jnnp.73.suppl_2.ii12.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12536154" target="_blank">12536154</a><a href="/pmc/articles/PMC1765608" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/392333">Myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Glasberg MR</span><br />
|
||
<span class="medgenPMjournal">Neurosurgery</span>
|
||
1979 Dec;5(6):747-58.
|
||
doi: 10.1227/00006123-197912000-00017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/392333" target="_blank">392333</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Inborn%20mitochondrial%20myopathy%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (203)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37341884">Adult-onset carnitine palmitoyl transferase II (CPT II) deficiency presenting with rhabdomyolysis and acute kidney injury.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Akar HT,
|
||
Yıldız Y,
|
||
Mutluay R,
|
||
Tekin E,
|
||
Tokatlı A</span><br />
|
||
<span class="medgenPMjournal">CEN Case Rep</span>
|
||
2024 Apr;13(2):81-85.
|
||
Epub 2023 Jun 21
|
||
doi: 10.1007/s13730-023-00804-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37341884" target="_blank">37341884</a><a href="/pmc/articles/PMC10982194" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32080090">Therapeutic management of stroke-like episodes varies from that of encephalitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Finsterer J</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2020 Feb;99(8):e19141.
|
||
doi: 10.1097/MD.0000000000019141.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32080090" target="_blank">32080090</a><a href="/pmc/articles/PMC7034643" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12351996">Metabolic and drug-induced muscle disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Scarlato G,
|
||
Comi GP</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Neurol</span>
|
||
2002 Oct;15(5):533-8.
|
||
doi: 10.1097/00019052-200210000-00003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12351996" target="_blank">12351996</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11073358">Mitochondrial disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schapira AH</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Neurol</span>
|
||
2000 Oct;13(5):527-32.
|
||
doi: 10.1097/00019052-200010000-00004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11073358" target="_blank">11073358</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9363835">Emerging treatments in myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Antozzi C,
|
||
Confalonieri P,
|
||
Mantegazza R,
|
||
Di Donato S</span><br />
|
||
<span class="medgenPMjournal">Eur Neurol</span>
|
||
1997;38(3):222-9.
|
||
doi: 10.1159/000113377.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9363835" target="_blank">9363835</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Inborn%20mitochondrial%20myopathy%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (36)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37239314">Metabolic Myopathies in the Era of Next-Generation Sequencing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Urtizberea JA,
|
||
Severa G,
|
||
Malfatti E</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2023 Apr 22;14(5)
|
||
doi: 10.3390/genes14050954.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37239314" target="_blank">37239314</a><a href="/pmc/articles/PMC10217901" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36253820">Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yoshimi A,
|
||
Ishikawa K,
|
||
Niemeyer C,
|
||
Grünert SC</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2022 Oct 17;17(1):379.
|
||
doi: 10.1186/s13023-022-02538-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36253820" target="_blank">36253820</a><a href="/pmc/articles/PMC9575259" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22531495">A novel mtDNA large-scale mutation clinically exclusively presenting with refractory anemia: is there a chance to predict disease progression?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Binder V,
|
||
Steenpass L,
|
||
Laws HJ,
|
||
Ruebo J,
|
||
Borkhardt A</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Hematol Oncol</span>
|
||
2012 May;34(4):283-92.
|
||
doi: 10.1097/MPH.0b013e3182288249.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22531495" target="_blank">22531495</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22399423">Inherited mitochondrial disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Finsterer J</span><br />
|
||
<span class="medgenPMjournal">Adv Exp Med Biol</span>
|
||
2012;942:187-213.
|
||
doi: 10.1007/978-94-007-2869-1_8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22399423" target="_blank">22399423</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22283595">Mitochondrial disease and epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rahman S</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
2012 May;54(5):397-406.
|
||
Epub 2012 Jan 28
|
||
doi: 10.1111/j.1469-8749.2011.04214.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22283595" target="_blank">22283595</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Inborn%20mitochondrial%20myopathy%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (71)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34479707">Retinitis pigmentosa as a clinical presentation of LCHAD deficiency: A clinical case and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">García García LC,
|
||
Zamorano Martín F,
|
||
Rocha de Lossada C,
|
||
García Lorente M,
|
||
Luque Aranda G,
|
||
Escudero Gómez J</span><br />
|
||
<span class="medgenPMjournal">Arch Soc Esp Oftalmol (Engl Ed)</span>
|
||
2021 Sep;96(9):496-499.
|
||
Epub 2020 Nov 28
|
||
doi: 10.1016/j.oftale.2020.07.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34479707" target="_blank">34479707</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22531495">A novel mtDNA large-scale mutation clinically exclusively presenting with refractory anemia: is there a chance to predict disease progression?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Binder V,
|
||
Steenpass L,
|
||
Laws HJ,
|
||
Ruebo J,
|
||
Borkhardt A</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Hematol Oncol</span>
|
||
2012 May;34(4):283-92.
|
||
doi: 10.1097/MPH.0b013e3182288249.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22531495" target="_blank">22531495</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12351996">Metabolic and drug-induced muscle disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Scarlato G,
|
||
Comi GP</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Neurol</span>
|
||
2002 Oct;15(5):533-8.
|
||
doi: 10.1097/00019052-200210000-00003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12351996" target="_blank">12351996</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10658169">The molecular diagnosis of metabolic myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vladutiu GD</span><br />
|
||
<span class="medgenPMjournal">Neurol Clin</span>
|
||
2000 Feb;18(1):53-104.
|
||
doi: 10.1016/s0733-8619(05)70179-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10658169" target="_blank">10658169</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7599215">Complementation and segregation behavior of disease-causing mitochondrial DNA mutations in cellular model systems.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Attardi G,
|
||
Yoneda M,
|
||
Chomyn A</span><br />
|
||
<span class="medgenPMjournal">Biochim Biophys Acta</span>
|
||
1995 May 24;1271(1):241-8.
|
||
doi: 10.1016/0925-4439(95)00034-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7599215" target="_blank">7599215</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Inborn%20mitochondrial%20myopathy%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (64)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/31730477">Evaluation of earlier versus later dietary management in long-chain 3-hydroxyacyl-CoA dehydrogenase or mitochondrial trifunctional protein deficiency: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fraser H,
|
||
Geppert J,
|
||
Johnson R,
|
||
Johnson S,
|
||
Connock M,
|
||
Clarke A,
|
||
Taylor-Phillips S,
|
||
Stinton C</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2019 Nov 15;14(1):258.
|
||
doi: 10.1186/s13023-019-1226-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31730477" target="_blank">31730477</a><a href="/pmc/articles/PMC6858661" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25022222">Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moorthie S,
|
||
Cameron L,
|
||
Sagoo GS,
|
||
Bonham JR,
|
||
Burton H</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2014 Nov;37(6):889-98.
|
||
Epub 2014 Jul 15
|
||
doi: 10.1007/s10545-014-9729-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25022222" target="_blank">25022222</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Inborn%20mitochondrial%20myopathy%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</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>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0162670%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (5)</a></li>
|
||
<li><a href="/gtr/tests?term=C0162670%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (22)</a></li>
|
||
<li><a href="/gtr/tests?term=C0162670%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (6)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0162670%5bDISCUI%5d" target="_blank">See all (25)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<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="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=206966" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Inborn%20mitochondrial%20myopathy" 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>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(inborn%20mitochondrial%20myopathy)%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(%22Inborn%20mitochondrial%20myopathy%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>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=590095" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=4578[geneid]" target="_blank">View MT-TW variations in ClinVar</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Mitochondrial+myopathy/8902" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/mitochondrial_myopathy_episodic_with_or_without_optic_atrophy_and_reversible_leukoencephalopathy" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Inborn%20mitochondrial%20myopathy" target="_blank">MedlinePlus</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/20301403" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Inborn%20mitochondrial%20myopathy" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Inborn%20mitochondrial%20myopathy%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=56484" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=56484" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0162670[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0162670[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=56484" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/books?LinkName=medgen_books&from_uid=56484" ref="log$=recordlinks">NCBI Bookshelf</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Bookshelf</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=56484" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=56484" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=56484" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=56484" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=56484" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=56484" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
||
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=56484" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
||
</div>
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<a class="text-white" href="//www.nlm.nih.gov/">NLM</a>
|
||
</li>
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||
<li>
|
||
<a class="text-white" href="https://www.nih.gov/">NIH</a>
|
||
</li>
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||
<li>
|
||
<a class="text-white" href="https://www.hhs.gov/">HHS</a>
|
||
</li>
|
||
<li>
|
||
<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
|
||
</li>
|
||
</ul>
|
||
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||
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||
</div>
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