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<meta name="keywords" content="C5569013, disease or syndrome, maternally inherited mitochondrial myopathy, maternally-inherited mitochondrial myopathy, mitochondrial dna-related mitochondrial myopathy, mtdna-related mitochondrial 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 group of rare mitochondrial oxidative phosphorylation disorders due to mitochondrial DNA anomalies characterized by progressive, most commonly proximal, myopathy with variable degrees of weakness, exercise-induced muscle pain, and fatigue. Progressive external ophthalmoplegia is often observed. Additional features include neurological signs and symptoms (such as seizures, stroke-like episodes, or developmental delay), cardiomyopathy, involvement of liver, kidneys, and gastrointestinal tract, and diabetes. Lactic acidosis is frequently present, while recurrent rhabdomyolysis and myoglobinuria are rare. Muscle biopsy may reveal the presence of ragged-red fibers and a mosaic pattern of cytochrome c oxidase-negative fibers." /><meta name="robots" content="index,nofollow,noarchive" />
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<div><div class="rprt full-rprt"><div class="portlet" style="border-top-style: none; margin-top: 0px; padding-top: 0px; margin-bottom: 0px; padding-left: 0.2em;">
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<!--
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UID=1800436
|
||
ConceptID=C5569013
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Maternally-inherited mitochondrial myopathy</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1800436</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:">C5569013</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>Maternally inherited mitochondrial myopathy; Mitochondrial DNA-related mitochondrial myopathy; mtDNA-related mitochondrial myopathy</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Maternally inherited mitochondrial myopathy (1187517009)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_165802"><div><strong>Mitochondrial inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>165802</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.">C0887941</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Genetic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_165802" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </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=254788">ORPHA254788</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 group of rare mitochondrial oxidative phosphorylation disorders due to mitochondrial DNA anomalies characterized by progressive, most commonly proximal, myopathy with variable degrees of weakness, exercise-induced muscle pain, and fatigue. Progressive external ophthalmoplegia is often observed. Additional features include neurological signs and symptoms (such as seizures, stroke-like episodes, or developmental delay), cardiomyopathy, involvement of liver, kidneys, and gastrointestinal tract, and diabetes. Lactic acidosis is frequently present, while recurrent rhabdomyolysis and myoglobinuria are rare. Muscle biopsy may reveal the presence of ragged-red fibers and a mosaic pattern of cytochrome c oxidase-negative fibers. [from <a title="Orphanet Rare Disease Ontology (ORDO)" href="http://www.orphadata.org/cgi-bin/inc/ordo_orphanet.inc.php" class="defSource" target="_blank">ORDO</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Maternally-inherited mitochondrial myopathy</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="matched_ds">Maternally-inherited mitochondrial myopathy</span><ul><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/333236" ref="tree=MeSH" title="MedGen record for Mitochondrial myopathy with diabetes">Mitochondrial myopathy with diabetes</a></span></li><li><span class="TLline"><a href="/medgen/463248" ref="tree=MeSH" title="MedGen record for Mitochondrial myopathy with reversible cytochrome C oxidase deficiency">Mitochondrial myopathy with reversible cytochrome C oxidase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1375079" ref="tree=MeSH" title="MedGen record for Pure mitochondrial myopathy">Pure mitochondrial myopathy</a></span></li></ul></li></ul></div></div></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/31682520">THE ROLE OF HETEROPLASMY IN THE DIAGNOSIS AND MANAGEMENT OF MATERNALLY INHERITED DIABETES AND DEAFNESS.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Robinson KN,
|
||
Terrazas S,
|
||
Giordano-Mooga S,
|
||
Xavier NA</span><br />
|
||
<span class="medgenPMjournal">Endocr Pract</span>
|
||
2020 Feb;26(2):241-246.
|
||
Epub 2019 Nov 4
|
||
doi: 10.4158/EP-2019-0270.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31682520" target="_blank">31682520</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26095523">MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">El-Hattab AW,
|
||
Adesina AM,
|
||
Jones J,
|
||
Scaglia F</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2015 Sep-Oct;116(1-2):4-12.
|
||
Epub 2015 Jun 15
|
||
doi: 10.1016/j.ymgme.2015.06.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26095523" target="_blank">26095523</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15347257">Diagnosis and management of MELAS.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thambisetty M,
|
||
Newman NJ</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Mol Diagn</span>
|
||
2004 Sep;4(5):631-44.
|
||
doi: 10.1586/14737159.4.5.631.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15347257" target="_blank">15347257</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(maternally-inherited%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 (10)</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/38355238">Renal manifestations in adults with mitochondrial disease from the mtDNA m.3243A>G pathogenic variant.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ferreira F,
|
||
Gonçalves Bacelar C,
|
||
Lisboa-Gonçalves P,
|
||
Paulo N,
|
||
Quental R,
|
||
Nunes AT,
|
||
Silva R,
|
||
Tavares I</span><br />
|
||
<span class="medgenPMjournal">Nefrologia (Engl Ed)</span>
|
||
2023 Dec;43 Suppl 2:1-7.
|
||
doi: 10.1016/j.nefroe.2024.01.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38355238" target="_blank">38355238</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34899594">The Mutations and Clinical Variability in Maternally Inherited Diabetes and Deafness: An Analysis of 161 Patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang M,
|
||
Xu L,
|
||
Xu C,
|
||
Cui Y,
|
||
Jiang S,
|
||
Dong J,
|
||
Liao L</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2021;12:728043.
|
||
Epub 2021 Nov 25
|
||
doi: 10.3389/fendo.2021.728043.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34899594" target="_blank">34899594</a><a href="/pmc/articles/PMC8654930" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32728985">Cardiac complications in inherited mitochondrial diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Behjati M,
|
||
Sabri MR,
|
||
Etemadi Far M,
|
||
Nejati M</span><br />
|
||
<span class="medgenPMjournal">Heart Fail Rev</span>
|
||
2021 Mar;26(2):391-403.
|
||
doi: 10.1007/s10741-020-10009-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32728985" target="_blank">32728985</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12638015">Mitochondrial cytopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schmiedel J,
|
||
Jackson S,
|
||
Schäfer J,
|
||
Reichmann H</span><br />
|
||
<span class="medgenPMjournal">J Neurol</span>
|
||
2003 Mar;250(3):267-77.
|
||
doi: 10.1007/s00415-003-0978-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12638015" target="_blank">12638015</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8215979">Mitochondrial encephalomyopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">DiMauro S,
|
||
Moraes CT</span><br />
|
||
<span class="medgenPMjournal">Arch Neurol</span>
|
||
1993 Nov;50(11):1197-208.
|
||
doi: 10.1001/archneur.1993.00540110075008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8215979" target="_blank">8215979</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Maternally-inherited%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 (68)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38355238">Renal manifestations in adults with mitochondrial disease from the mtDNA m.3243A>G pathogenic variant.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ferreira F,
|
||
Gonçalves Bacelar C,
|
||
Lisboa-Gonçalves P,
|
||
Paulo N,
|
||
Quental R,
|
||
Nunes AT,
|
||
Silva R,
|
||
Tavares I</span><br />
|
||
<span class="medgenPMjournal">Nefrologia (Engl Ed)</span>
|
||
2023 Dec;43 Suppl 2:1-7.
|
||
doi: 10.1016/j.nefroe.2024.01.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38355238" target="_blank">38355238</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32728985">Cardiac complications in inherited mitochondrial diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Behjati M,
|
||
Sabri MR,
|
||
Etemadi Far M,
|
||
Nejati M</span><br />
|
||
<span class="medgenPMjournal">Heart Fail Rev</span>
|
||
2021 Mar;26(2):391-403.
|
||
doi: 10.1007/s10741-020-10009-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32728985" target="_blank">32728985</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26996063">Mitochondrial cytopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">El-Hattab AW,
|
||
Scaglia F</span><br />
|
||
<span class="medgenPMjournal">Cell Calcium</span>
|
||
2016 Sep;60(3):199-206.
|
||
Epub 2016 Mar 4
|
||
doi: 10.1016/j.ceca.2016.03.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26996063" target="_blank">26996063</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9465864">Mitochondrial disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zeviani M,
|
||
Tiranti V,
|
||
Piantadosi C</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
1998 Jan;77(1):59-72.
|
||
doi: 10.1097/00005792-199801000-00006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9465864" target="_blank">9465864</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8215979">Mitochondrial encephalomyopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">DiMauro S,
|
||
Moraes CT</span><br />
|
||
<span class="medgenPMjournal">Arch Neurol</span>
|
||
1993 Nov;50(11):1197-208.
|
||
doi: 10.1001/archneur.1993.00540110075008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8215979" target="_blank">8215979</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Maternally-inherited%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 (106)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31063406">Pharmacotherapeutic management of epilepsy in MERRF syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Finsterer J</span><br />
|
||
<span class="medgenPMjournal">Expert Opin Pharmacother</span>
|
||
2019 Jul;20(10):1289-1297.
|
||
Epub 2019 May 7
|
||
doi: 10.1080/14656566.2019.1609941.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31063406" target="_blank">31063406</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30471880">mTOR inhibitors may benefit kidney transplant recipients with mitochondrial diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Johnson SC,
|
||
Martinez F,
|
||
Bitto A,
|
||
Gonzalez B,
|
||
Tazaerslan C,
|
||
Cohen C,
|
||
Delaval L,
|
||
Timsit J,
|
||
Knebelmann B,
|
||
Terzi F,
|
||
Mahal T,
|
||
Zhu Y,
|
||
Morgan PG,
|
||
Sedensky MM,
|
||
Kaeberlein M,
|
||
Legendre C,
|
||
Suh Y,
|
||
Canaud G</span><br />
|
||
<span class="medgenPMjournal">Kidney Int</span>
|
||
2019 Feb;95(2):455-466.
|
||
Epub 2018 Nov 22
|
||
doi: 10.1016/j.kint.2018.08.038.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30471880" target="_blank">30471880</a><a href="/pmc/articles/PMC6389356" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26095523">MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">El-Hattab AW,
|
||
Adesina AM,
|
||
Jones J,
|
||
Scaglia F</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2015 Sep-Oct;116(1-2):4-12.
|
||
Epub 2015 Jun 15
|
||
doi: 10.1016/j.ymgme.2015.06.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26095523" target="_blank">26095523</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25709378">Mitochondrial disease heterogeneity: a prognostic challenge.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moggio M,
|
||
Colombo I,
|
||
Peverelli L,
|
||
Villa L,
|
||
Xhani R,
|
||
Testolin S,
|
||
Di Mauro S,
|
||
Sciacco M</span><br />
|
||
<span class="medgenPMjournal">Acta Myol</span>
|
||
2014 Oct;33(2):86-93.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25709378" target="_blank">25709378</a><a href="/pmc/articles/PMC4299169" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24412347">Mitochondria: role of citrulline and arginine supplementation in MELAS syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">El-Hattab AW,
|
||
Emrick LT,
|
||
Chanprasert S,
|
||
Craigen WJ,
|
||
Scaglia F</span><br />
|
||
<span class="medgenPMjournal">Int J Biochem Cell Biol</span>
|
||
2014 Mar;48:85-91.
|
||
Epub 2014 Jan 8
|
||
doi: 10.1016/j.biocel.2013.12.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24412347" target="_blank">24412347</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Maternally-inherited%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 (19)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33610586">Mitochondrial DNA A3243G variant-associated retinopathy: Current perspectives and clinical implications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coussa RG,
|
||
Parikh S,
|
||
Traboulsi EI</span><br />
|
||
<span class="medgenPMjournal">Surv Ophthalmol</span>
|
||
2021 Sep-Oct;66(5):838-855.
|
||
Epub 2021 Feb 18
|
||
doi: 10.1016/j.survophthal.2021.02.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33610586" target="_blank">33610586</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26996063">Mitochondrial cytopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">El-Hattab AW,
|
||
Scaglia F</span><br />
|
||
<span class="medgenPMjournal">Cell Calcium</span>
|
||
2016 Sep;60(3):199-206.
|
||
Epub 2016 Mar 4
|
||
doi: 10.1016/j.ceca.2016.03.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26996063" target="_blank">26996063</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26112726">Progress in Diagnosing Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like Episodes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang YX,
|
||
Le WD</span><br />
|
||
<span class="medgenPMjournal">Chin Med J (Engl)</span>
|
||
2015 Jul 5;128(13):1820-5.
|
||
doi: 10.4103/0366-6999.159360.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26112726" target="_blank">26112726</a><a href="/pmc/articles/PMC4733719" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20973690">Treatment options for mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Santa KM</span><br />
|
||
<span class="medgenPMjournal">Pharmacotherapy</span>
|
||
2010 Nov;30(11):1179-96.
|
||
doi: 10.1592/phco.30.11.1179.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20973690" target="_blank">20973690</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10996778">Progress in genetic counselling and prenatal diagnosis of maternally inherited mtDNA diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Poulton J,
|
||
Marchington DR</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2000 Oct;10(7):484-7.
|
||
doi: 10.1016/s0960-8966(00)00130-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10996778" target="_blank">10996778</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Maternally-inherited%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 (38)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31063406">Pharmacotherapeutic management of epilepsy in MERRF syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Finsterer J</span><br />
|
||
<span class="medgenPMjournal">Expert Opin Pharmacother</span>
|
||
2019 Jul;20(10):1289-1297.
|
||
Epub 2019 May 7
|
||
doi: 10.1080/14656566.2019.1609941.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31063406" target="_blank">31063406</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26095523">MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">El-Hattab AW,
|
||
Adesina AM,
|
||
Jones J,
|
||
Scaglia F</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2015 Sep-Oct;116(1-2):4-12.
|
||
Epub 2015 Jun 15
|
||
doi: 10.1016/j.ymgme.2015.06.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26095523" target="_blank">26095523</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10996778">Progress in genetic counselling and prenatal diagnosis of maternally inherited mtDNA diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Poulton J,
|
||
Marchington DR</span><br />
|
||
<span class="medgenPMjournal">Neuromuscul Disord</span>
|
||
2000 Oct;10(7):484-7.
|
||
doi: 10.1016/s0960-8966(00)00130-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10996778" target="_blank">10996778</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9185178">Mitochondrial tRNA(Cys) gene mutation (A5814G): a second family with mitochondrial encephalopathy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Santorelli FM,
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Siciliano G,
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Casali C,
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Basirico MG,
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Carrozzo R,
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Calvosa F,
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Sartucci F,
|
||
Bonfiglio L,
|
||
Murri L,
|
||
DiMauro S</span><br />
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<span class="medgenPMjournal">Neuromuscul Disord</span>
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||
1997 May;7(3):156-9.
|
||
doi: 10.1016/s0960-8966(97)00444-6.
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<span class="medgenPMjournal">Br J Hosp Med</span>
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1996 Jun 5-18;55(11):712-6.
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