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<meta name="keywords" content="C5882730, combined oxidative phosphorylation deficiency 59, coxpd59, disease or syndrome, mrpl39, 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="Combined oxidative phosphorylation deficiency-59 (COXPD59) may present as a lethal infantile form of Leigh syndrome (see 256000) or as a milder disorder with hypertrophic cardiomyopathy, lactic acidosis, attention deficit-hyperactivity disorder (ADHD) and survival into adulthood (summary by Amarasekera et al., 2023). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1845781
|
||
ConceptID=C5882730
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Combined oxidative phosphorylation deficiency 59<span class="h1sub">(COXPD59)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1845781</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:">C5882730</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>COXPD59</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="MRPL39 - ID: 54148 - NCBI Gene" href="/gene/54148" class="medgenPMinfo">MRPL39</a> (21q21.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0957992" target="_blank">MONDO:0957992</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/620646" target="_blank">620646</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">Combined oxidative phosphorylation deficiency-59 (COXPD59) may present as a lethal infantile form of Leigh syndrome (see 256000) or as a milder disorder with hypertrophic cardiomyopathy, lactic acidosis, attention deficit-hyperactivity disorder (ADHD) and survival into adulthood (summary by Amarasekera et al., 2023). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
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</div>
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||
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<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_343550"><div><strong>Dicarboxylic aciduria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343550</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.">C1856432</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased concentration of dicarboxylic acid in the urine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343550">Feature record</a> | <a href="/medgen?term=%22Dicarboxylic%20aciduria%22%5BClinical%20Features%5D%20OR%20343550%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_2881"><div><strong>Hypertrophic cardiomyopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2881</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.">C0007194</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2881">Feature record</a> | <a href="/medgen?term=%22Hypertrophic%20cardiomyopathy%22%5BClinical%20Features%5D%20OR%202881%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9169"><div><strong>Congestive heart failure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9169</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.">C0018802</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9169">Feature record</a> | <a href="/medgen?term=%22Congestive%20heart%20failure%22%5BClinical%20Features%5D%20OR%209169%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_868396"><div><strong>Severely reduced left ventricular ejection fraction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868396</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.">C4022790</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A large reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at over 50 percent, and a severe reduction is defined as less than 30 percent.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/868396">Feature record</a> | <a href="/medgen?term=%22Severely%20reduced%20left%20ventricular%20ejection%20fraction%22%5BClinical%20Features%5D%20OR%20868396%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_746019"><div><strong>Failure to thrive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>746019</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.">C2315100</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/746019">Feature record</a> | <a href="/medgen?term=%22Failure%20to%20thrive%22%5BClinical%20Features%5D%20OR%20746019%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_3039"><div><strong>Cholelithiasis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3039</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.">C0008350</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hard, pebble-like deposits that form within the gallbladder.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3039">Feature record</a> | <a href="/medgen?term=%22Cholelithiasis%22%5BClinical%20Features%5D%20OR%203039%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_12124"><div><strong>Vomiting</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>12124</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.">C0042963</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/12124">Feature record</a> | <a href="/medgen?term=%22Vomiting%22%5BClinical%20Features%5D%20OR%2012124%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65429"><div><strong>Feeding difficulties</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65429</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.">C0232466</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65429">Feature record</a> | <a href="/medgen?term=%22Feeding%20difficulties%22%5BClinical%20Features%5D%20OR%2065429%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_2337"><div><strong>Cerebral edema</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2337</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.">C0006114</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal accumulation of fluid in the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2337">Feature record</a> | <a href="/medgen?term=%22Cerebral%20edema%22%5BClinical%20Features%5D%20OR%202337%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_39083"><div><strong>Apathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39083</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.">C0085632</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Apathy is a quantitative reduction of interest, motivation and the initiation and persistence of goal-directed behavior, where often the accompanying emotions, thoughts, and social interactions are also diminished. The individual is typically non-reactive to provocations, positive or negative, and appears to not care. Distinguished from lethargy which involves lack of physical or mental energy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/39083">Feature record</a> | <a href="/medgen?term=%22Apathy%22%5BClinical%20Features%5D%20OR%2039083%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57451"><div><strong>Migraine</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57451</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.">C0149931</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57451">Feature record</a> | <a href="/medgen?term=%22Migraine%22%5BClinical%20Features%5D%20OR%2057451%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_137898"><div><strong>CNS demyelination</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>137898</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.">C0338474</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A loss of myelin from nerve fibers in the central nervous system.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/137898">Feature record</a> | <a href="/medgen?term=%22CNS%20demyelination%22%5BClinical%20Features%5D%20OR%20137898%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107838"><div><strong>Global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107838</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.">C0557874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107838">Feature record</a> | <a href="/medgen?term=%22Global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20107838%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_220387"><div><strong>Attention deficit hyperactivity disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>220387</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.">C1263846</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Attention-deficit/hyperactivity disorder (ADHD) is a behavioral disorder that typically begins in childhood and is characterized by a short attention span (inattention), an inability to be calm and stay still (hyperactivity), and poor impulse control (impulsivity). Some people with ADHD have problems with only inattention or with hyperactivity and impulsivity, but most have problems related to all three features.\n\nIn people with ADHD, the characteristic behaviors are frequent and severe enough to interfere with the activities of daily living such as school, work, and relationships with others. Because of an inability to stay focused on tasks, people with inattention may be easily distracted, forgetful, avoid tasks that require sustained attention, have difficulty organizing tasks, or frequently lose items.\n\nHyperactivity is usually shown by frequent movement. Individuals with this feature often fidget or tap their foot when seated, leave their seat when it is inappropriate to do so (such as in the classroom), or talk a lot and interrupt others.\n\nImpulsivity can result in hasty actions without thought for the consequences. Individuals with poor impulse control may have difficulty waiting for their turn, deferring to others, or considering their actions before acting.\n\nMore than two-thirds of all individuals with ADHD have additional conditions, including insomnia, mood or anxiety disorders, learning disorders, or substance use disorders. Affected individuals may also have autism spectrum disorder, which is characterized by impaired communication and social interaction, or Tourette syndrome, which is a disorder characterized by repetitive and involuntary movements or noises called tics.\n\nIn most affected individuals, ADHD continues throughout life, but in about one-third of individuals, signs and symptoms of ADHD go away by adulthood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/220387">Feature record</a> | <a href="/medgen?term=%22Attention%20deficit%20hyperactivity%20disorder%22%5BClinical%20Features%5D%20OR%20220387%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_324613"><div><strong>Developmental regression</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324613</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.">C1836830</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Loss of developmental skills, as manifested by loss of developmental milestones.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324613">Feature record</a> | <a href="/medgen?term=%22Developmental%20regression%22%5BClinical%20Features%5D%20OR%20324613%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_868351"><div><strong>Abnormal basal ganglia MRI signal intensity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868351</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.">C4022745</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A deviation from normal signal on magnetic resonance imaging (MRI) of the basal ganglia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/868351">Feature record</a> | <a href="/medgen?term=%22Abnormal%20basal%20ganglia%20MRI%20signal%20intensity%22%5BClinical%20Features%5D%20OR%20868351%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_868368"><div><strong>Elevated brain lactate level by MRS</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868368</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.">C4022762</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increase in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/868368">Feature record</a> | <a href="/medgen?term=%22Elevated%20brain%20lactate%20level%20by%20MRS%22%5BClinical%20Features%5D%20OR%20868368%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10133"><div><strong>Hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10133</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.">C0026827</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10133">Feature record</a> | <a href="/medgen?term=%22Hypotonia%22%5BClinical%20Features%5D%20OR%2010133%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_2009"><div><strong>Apnea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2009</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.">C0003578</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2009">Feature record</a> | <a href="/medgen?term=%22Apnea%22%5BClinical%20Features%5D%20OR%202009%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_75702"><div><strong>Hyper-beta-alaninemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75702</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.">C0268630</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased concentration of alanine in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75702">Feature record</a> | <a href="/medgen?term=%22Hyper-beta-alaninemia%22%5BClinical%20Features%5D%20OR%2075702%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_543512"><div><strong>Ketotic hypoglycemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>543512</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.">C0271713</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Low blood glucose is accompanied by elevated levels of ketone bodies in the body.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/543512">Feature record</a> | <a href="/medgen?term=%22Ketotic%20hypoglycemia%22%5BClinical%20Features%5D%20OR%20543512%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_332209"><div><strong>Increased circulating lactate concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332209</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.">C1836440</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332209">Feature record</a> | <a href="/medgen?term=%22Increased%20circulating%20lactate%20concentration%22%5BClinical%20Features%5D%20OR%20332209%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_48432"><div><strong>Retinal degeneration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>48432</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.">C0035304</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/48432">Feature record</a> | <a href="/medgen?term=%22Retinal%20degeneration%22%5BClinical%20Features%5D%20OR%2048432%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21337"><div><strong>Strabismus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21337</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.">C0038379</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21337">Feature record</a> | <a href="/medgen?term=%22Strabismus%22%5BClinical%20Features%5D%20OR%2021337%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_326605"><div><strong>Decreased activity of the pyruvate dehydrogenase complex</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326605</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.">C1839888</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/326605">Feature record</a> | <a href="/medgen?term=%22Decreased%20activity%20of%20the%20pyruvate%20dehydrogenase%20complex%22%5BClinical%20Features%5D%20OR%20326605%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_393796"><div><strong>Decreased activity of mitochondrial complex I</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>393796</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.">C2677650</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/393796">Feature record</a> | <a href="/medgen?term=%22Decreased%20activity%20of%20mitochondrial%20complex%20I%22%5BClinical%20Features%5D%20OR%20393796%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_866520"><div><strong>Decreased activity of mitochondrial complex IV</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>866520</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.">C4020800</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction in the activity of the mitochondrial respiratory chain complex IV, which is part of the electron transport chain in mitochondria.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/866520">Feature record</a> | <a href="/medgen?term=%22Decreased%20activity%20of%20mitochondrial%20complex%20IV%22%5BClinical%20Features%5D%20OR%20866520%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormal cellular phenotype</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_393796" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased activity of mitochondrial complex I</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_866520" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased activity of mitochondrial complex IV</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_326605" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased activity of the pyruvate dehydrogenase complex</a></span></li></ul></li><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_75702" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyper-beta-alaninemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_332209" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased circulating lactate concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_543512" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ketotic hypoglycemia</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9169" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congestive heart failure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2881" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertrophic cardiomyopathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_868396" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Severely reduced left ventricular ejection fraction</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3039" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cholelithiasis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65429" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Feeding difficulties</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_12124" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vomiting</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_48432" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal degeneration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21337" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Strabismus</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_343550" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dicarboxylic aciduria</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotonia</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_868351" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal basal ganglia MRI signal intensity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_39083" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Apathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_220387" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Attention deficit hyperactivity disorder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2337" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral edema</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_137898" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">CNS demyelination</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_324613" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental regression</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_868368" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated brain lactate level by MRS</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57451" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Migraine</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2009" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Apnea</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_746019" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Failure to thrive</a></span></li></ul></li></ul></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/36746021">STAT3 as a therapeutic target in the metformin-related treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang W,
|
||
Li D,
|
||
Li B,
|
||
Chu X,
|
||
Kong B</span><br />
|
||
<span class="medgenPMjournal">Int Immunopharmacol</span>
|
||
2023 Mar;116:109770.
|
||
Epub 2023 Feb 4
|
||
doi: 10.1016/j.intimp.2023.109770.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36746021" target="_blank">36746021</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24749767">Roles of the ALDH2 and ADH1B genotypes on the association between alcohol intake and serum adiponectin levels among Japanese male workers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maeda S,
|
||
Mure K,
|
||
Mugitani K,
|
||
Watanabe Y,
|
||
Iwane M,
|
||
Mohara O,
|
||
Takeshita T</span><br />
|
||
<span class="medgenPMjournal">Alcohol Clin Exp Res</span>
|
||
2014 Jun;38(6):1559-66.
|
||
Epub 2014 Apr 17
|
||
doi: 10.1111/acer.12406.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24749767" target="_blank">24749767</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12427891">Mitochondrial disorders: a proposal for consensus diagnostic criteria in infants and children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wolf NI,
|
||
Smeitink JA</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2002 Nov 12;59(9):1402-5.
|
||
doi: 10.1212/01.wnl.0000031795.91814.d8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12427891" target="_blank">12427891</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(combined%20oxidative%20phosphorylation%20deficiency%2059)%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 (3)</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/36927883">Association of Mitochondrial DNA Copy Number With Brain MRI Markers and Cognitive Function: A Meta-analysis of Community-Based Cohorts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang Y,
|
||
Liu X,
|
||
Wiggins KL,
|
||
Kurniansyah N,
|
||
Guo X,
|
||
Rodrigue AL,
|
||
Zhao W,
|
||
Yanek LR,
|
||
Ratliff SM,
|
||
Pitsillides A,
|
||
Aguirre Patiño JS,
|
||
Sofer T,
|
||
Arking DE,
|
||
Austin TR,
|
||
Beiser AS,
|
||
Blangero J,
|
||
Boerwinkle E,
|
||
Bressler J,
|
||
Curran JE,
|
||
Hou L,
|
||
Hughes TM,
|
||
Kardia SLR,
|
||
Launer LJ,
|
||
Levy D,
|
||
Mosley TH,
|
||
Nasrallah IM,
|
||
Rich SS,
|
||
Rotter JI,
|
||
Seshadri S,
|
||
Tarraf W,
|
||
González KA,
|
||
Ramachandran V,
|
||
Yaffe K,
|
||
Nyquist PA,
|
||
Psaty BM,
|
||
DeCarli CS,
|
||
Smith JA,
|
||
Glahn DC,
|
||
González HM,
|
||
Bis JC,
|
||
Fornage M,
|
||
Heckbert SR,
|
||
Fitzpatrick AL,
|
||
Liu C,
|
||
Satizabal CL;
|
||
NHLBI Trans-Omics for Precision Medicine (TOPMed) program, Mitochondrial and Neurocognitive Working Groups</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2023 May 2;100(18):e1930-e1943.
|
||
Epub 2023 Mar 16
|
||
doi: 10.1212/WNL.0000000000207157.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36927883" target="_blank">36927883</a><a href="/pmc/articles/PMC10159770" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36134657">Exercise restores brain insulin sensitivity in sedentary adults who are overweight and obese.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kullmann S,
|
||
Goj T,
|
||
Veit R,
|
||
Fritsche L,
|
||
Wagner L,
|
||
Schneeweiss P,
|
||
Hoene M,
|
||
Hoffmann C,
|
||
Machann J,
|
||
Niess A,
|
||
Preissl H,
|
||
Birkenfeld AL,
|
||
Peter A,
|
||
Häring HU,
|
||
Fritsche A,
|
||
Moller A,
|
||
Weigert C,
|
||
Heni M</span><br />
|
||
<span class="medgenPMjournal">JCI Insight</span>
|
||
2022 Sep 22;7(18)
|
||
doi: 10.1172/jci.insight.161498.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36134657" target="_blank">36134657</a><a href="/pmc/articles/PMC9675563" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35768750">Recent Updates on the Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kirola L,
|
||
Mukherjee A,
|
||
Mutsuddi M</span><br />
|
||
<span class="medgenPMjournal">Mol Neurobiol</span>
|
||
2022 Sep;59(9):5673-5694.
|
||
Epub 2022 Jun 30
|
||
doi: 10.1007/s12035-022-02934-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35768750" target="_blank">35768750</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31452135">Mitochondria Lysine Acetylation and Phenotypic Control.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ciregia F</span><br />
|
||
<span class="medgenPMjournal">Adv Exp Med Biol</span>
|
||
2019;1158:59-70.
|
||
doi: 10.1007/978-981-13-8367-0_4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31452135" target="_blank">31452135</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17950797">Effect of coenzyme Q(10) supplementation on simvastatin-induced myalgia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Young JM,
|
||
Florkowski CM,
|
||
Molyneux SL,
|
||
McEwan RG,
|
||
Frampton CM,
|
||
George PM,
|
||
Scott RS</span><br />
|
||
<span class="medgenPMjournal">Am J Cardiol</span>
|
||
2007 Nov 1;100(9):1400-3.
|
||
Epub 2007 Aug 16
|
||
doi: 10.1016/j.amjcard.2007.06.030.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17950797" target="_blank">17950797</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Combined%20oxidative%20phosphorylation%20deficiency%2059%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 (16)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38811977">Prevalence of Leber hereditary optic neuropathy in the Community of Madrid (Spain), estimation with a capture-recapture method.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Esteban-Vasallo MD,
|
||
Domínguez-Berjón MF,
|
||
Chalco-Orrego JP,
|
||
González Martín-Moro J</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2024 May 29;19(1):220.
|
||
doi: 10.1186/s13023-024-03225-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38811977" target="_blank">38811977</a><a href="/pmc/articles/PMC11137926" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36134657">Exercise restores brain insulin sensitivity in sedentary adults who are overweight and obese.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kullmann S,
|
||
Goj T,
|
||
Veit R,
|
||
Fritsche L,
|
||
Wagner L,
|
||
Schneeweiss P,
|
||
Hoene M,
|
||
Hoffmann C,
|
||
Machann J,
|
||
Niess A,
|
||
Preissl H,
|
||
Birkenfeld AL,
|
||
Peter A,
|
||
Häring HU,
|
||
Fritsche A,
|
||
Moller A,
|
||
Weigert C,
|
||
Heni M</span><br />
|
||
<span class="medgenPMjournal">JCI Insight</span>
|
||
2022 Sep 22;7(18)
|
||
doi: 10.1172/jci.insight.161498.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36134657" target="_blank">36134657</a><a href="/pmc/articles/PMC9675563" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28395030">Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sommerville EW,
|
||
Ng YS,
|
||
Alston CL,
|
||
Dallabona C,
|
||
Gilberti M,
|
||
He L,
|
||
Knowles C,
|
||
Chin SL,
|
||
Schaefer AM,
|
||
Falkous G,
|
||
Murdoch D,
|
||
Longman C,
|
||
de Visser M,
|
||
Bindoff LA,
|
||
Rawles JM,
|
||
Dean JCS,
|
||
Petty RK,
|
||
Farrugia ME,
|
||
Haack TB,
|
||
Prokisch H,
|
||
McFarland R,
|
||
Turnbull DM,
|
||
Donnini C,
|
||
Taylor RW,
|
||
Gorman GS</span><br />
|
||
<span class="medgenPMjournal">JAMA Neurol</span>
|
||
2017 Jun 1;74(6):686-694.
|
||
doi: 10.1001/jamaneurol.2016.4357.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28395030" target="_blank">28395030</a><a href="/pmc/articles/PMC5822212" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27843092">RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ulrick N,
|
||
Goldstein A,
|
||
Simons C,
|
||
Taft RJ,
|
||
Helman G,
|
||
Pizzino A,
|
||
Bloom M,
|
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Austin TR,
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Beiser AS,
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Blangero J,
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Boerwinkle E,
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Bressler J,
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Curran JE,
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Hou L,
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Hughes TM,
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Kardia SLR,
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Launer LJ,
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Levy D,
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Mosley TH,
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Nasrallah IM,
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Rich SS,
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Rotter JI,
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Seshadri S,
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Tarraf W,
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González KA,
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Ramachandran V,
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Yaffe K,
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Nyquist PA,
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Psaty BM,
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DeCarli CS,
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Smith JA,
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Glahn DC,
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González HM,
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Bis JC,
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Fornage M,
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Heckbert SR,
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Liu C,
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<div class="nl"><a target="_blank" href="/pubmed/36746021">STAT3 as a therapeutic target in the metformin-related treatment.</a></div>
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Li D,
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<span class="bold">PMID: </span><a href="/pubmed/36746021" target="_blank">36746021</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/36134657">Exercise restores brain insulin sensitivity in sedentary adults who are overweight and obese.</a></div>
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<span class="medgenPMjournal">JCI Insight</span>
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<span class="bold">PMID: </span><a href="/pubmed/36134657" target="_blank">36134657</a><a href="/pmc/articles/PMC9675563" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/34552125">Metabolic drift in the aging nervous system is reflected in human cerebrospinal fluid.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/34552125" target="_blank">34552125</a><a href="/pmc/articles/PMC8458502" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/22245716">Mitochondrial DNA haplogroups and incidence of lipodystrophy in HIV-infected patients on long-term antiretroviral therapy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">De Luca A,
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Nasi M,
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Di Giambenedetto S,
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Cozzi-Lepri A,
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Pinti M,
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Marzocchetti A,
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Mussini C,
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Fabbiani M,
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Bracciale L,
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Cauda R,
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Cossarizza A</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/22245716" target="_blank">22245716</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Combined%20oxidative%20phosphorylation%20deficiency%2059%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 (13)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/39898258">Deciphering Epigenetic and Post-Translational Modifications in Ferroptosis: A Scientometric and Visualization Study.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Cao S,
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Wei Y,
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Yue Y,
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<span class="medgenPMjournal">Int J Med Sci</span>
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<span class="bold">PMID: </span><a href="/pubmed/39898258" target="_blank">39898258</a><a href="/pmc/articles/PMC11783085" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35798654">Metabolomics analysis reveals dysregulation in one carbon metabolism in Friedreich Ataxia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">O'Connell TM,
|
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Logsdon DL,
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Payne RM</span><br />
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<span class="medgenPMjournal">Mol Genet Metab</span>
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2022 Aug;136(4):306-314.
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Epub 2022 Jun 13
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doi: 10.1016/j.ymgme.2022.06.002.
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<span class="bold">PMID: </span><a href="/pubmed/35798654" target="_blank">35798654</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/28395030">Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sommerville EW,
|
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Ng YS,
|
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Alston CL,
|
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Dallabona C,
|
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Gilberti M,
|
||
He L,
|
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Knowles C,
|
||
Chin SL,
|
||
Schaefer AM,
|
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Falkous G,
|
||
Murdoch D,
|
||
Longman C,
|
||
de Visser M,
|
||
Bindoff LA,
|
||
Rawles JM,
|
||
Dean JCS,
|
||
Petty RK,
|
||
Farrugia ME,
|
||
Haack TB,
|
||
Prokisch H,
|
||
McFarland R,
|
||
Turnbull DM,
|
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Donnini C,
|
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Taylor RW,
|
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Gorman GS</span><br />
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<span class="medgenPMjournal">JAMA Neurol</span>
|
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2017 Jun 1;74(6):686-694.
|
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doi: 10.1001/jamaneurol.2016.4357.
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<span class="bold">PMID: </span><a href="/pubmed/28395030" target="_blank">28395030</a><a href="/pmc/articles/PMC5822212" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27671241">Epilepsy Characteristics and Clinical Outcome in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee HN,
|
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Eom S,
|
||
Kim SH,
|
||
Kang HC,
|
||
Lee JS,
|
||
Kim HD,
|
||
Lee YM</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2016 Nov;64:59-65.
|
||
Epub 2016 Aug 26
|
||
doi: 10.1016/j.pediatrneurol.2016.08.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27671241" target="_blank">27671241</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22245716">Mitochondrial DNA haplogroups and incidence of lipodystrophy in HIV-infected patients on long-term antiretroviral therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">De Luca A,
|
||
Nasi M,
|
||
Di Giambenedetto S,
|
||
Cozzi-Lepri A,
|
||
Pinti M,
|
||
Marzocchetti A,
|
||
Mussini C,
|
||
Fabbiani M,
|
||
Bracciale L,
|
||
Cauda R,
|
||
Cossarizza A</span><br />
|
||
<span class="medgenPMjournal">J Acquir Immune Defic Syndr</span>
|
||
2012 Feb 1;59(2):113-20.
|
||
doi: 10.1097/QAI.0b013e31823daff3..
|
||
<span class="bold">PMID: </span><a href="/pubmed/22245716" target="_blank">22245716</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Combined%20oxidative%20phosphorylation%20deficiency%2059%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 (10)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36927883">Association of Mitochondrial DNA Copy Number With Brain MRI Markers and Cognitive Function: A Meta-analysis of Community-Based Cohorts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang Y,
|
||
Liu X,
|
||
Wiggins KL,
|
||
Kurniansyah N,
|
||
Guo X,
|
||
Rodrigue AL,
|
||
Zhao W,
|
||
Yanek LR,
|
||
Ratliff SM,
|
||
Pitsillides A,
|
||
Aguirre Patiño JS,
|
||
Sofer T,
|
||
Arking DE,
|
||
Austin TR,
|
||
Beiser AS,
|
||
Blangero J,
|
||
Boerwinkle E,
|
||
Bressler J,
|
||
Curran JE,
|
||
Hou L,
|
||
Hughes TM,
|
||
Kardia SLR,
|
||
Launer LJ,
|
||
Levy D,
|
||
Mosley TH,
|
||
Nasrallah IM,
|
||
Rich SS,
|
||
Rotter JI,
|
||
Seshadri S,
|
||
Tarraf W,
|
||
González KA,
|
||
Ramachandran V,
|
||
Yaffe K,
|
||
Nyquist PA,
|
||
Psaty BM,
|
||
DeCarli CS,
|
||
Smith JA,
|
||
Glahn DC,
|
||
González HM,
|
||
Bis JC,
|
||
Fornage M,
|
||
Heckbert SR,
|
||
Fitzpatrick AL,
|
||
Liu C,
|
||
Satizabal CL;
|
||
NHLBI Trans-Omics for Precision Medicine (TOPMed) program, Mitochondrial and Neurocognitive Working Groups</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2023 May 2;100(18):e1930-e1943.
|
||
Epub 2023 Mar 16
|
||
doi: 10.1212/WNL.0000000000207157.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36927883" target="_blank">36927883</a><a href="/pmc/articles/PMC10159770" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35798654">Metabolomics analysis reveals dysregulation in one carbon metabolism in Friedreich Ataxia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">O'Connell TM,
|
||
Logsdon DL,
|
||
Payne RM</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2022 Aug;136(4):306-314.
|
||
Epub 2022 Jun 13
|
||
doi: 10.1016/j.ymgme.2022.06.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35798654" target="_blank">35798654</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28395030">Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sommerville EW,
|
||
Ng YS,
|
||
Alston CL,
|
||
Dallabona C,
|
||
Gilberti M,
|
||
He L,
|
||
Knowles C,
|
||
Chin SL,
|
||
Schaefer AM,
|
||
Falkous G,
|
||
Murdoch D,
|
||
Longman C,
|
||
de Visser M,
|
||
Bindoff LA,
|
||
Rawles JM,
|
||
Dean JCS,
|
||
Petty RK,
|
||
Farrugia ME,
|
||
Haack TB,
|
||
Prokisch H,
|
||
McFarland R,
|
||
Turnbull DM,
|
||
Donnini C,
|
||
Taylor RW,
|
||
Gorman GS</span><br />
|
||
<span class="medgenPMjournal">JAMA Neurol</span>
|
||
2017 Jun 1;74(6):686-694.
|
||
doi: 10.1001/jamaneurol.2016.4357.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28395030" target="_blank">28395030</a><a href="/pmc/articles/PMC5822212" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27671241">Epilepsy Characteristics and Clinical Outcome in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee HN,
|
||
Eom S,
|
||
Kim SH,
|
||
Kang HC,
|
||
Lee JS,
|
||
Kim HD,
|
||
Lee YM</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2016 Nov;64:59-65.
|
||
Epub 2016 Aug 26
|
||
doi: 10.1016/j.pediatrneurol.2016.08.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27671241" target="_blank">27671241</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17950797">Effect of coenzyme Q(10) supplementation on simvastatin-induced myalgia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Young JM,
|
||
Florkowski CM,
|
||
Molyneux SL,
|
||
McEwan RG,
|
||
Frampton CM,
|
||
George PM,
|
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Scott RS</span><br />
|
||
<span class="medgenPMjournal">Am J Cardiol</span>
|
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2007 Nov 1;100(9):1400-3.
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||
Epub 2007 Aug 16
|
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doi: 10.1016/j.amjcard.2007.06.030.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17950797" target="_blank">17950797</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Combined%20oxidative%20phosphorylation%20deficiency%2059%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 (21)</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/39923090">Clinical spectrum, treatment and outcomes of the m.10197G>A mutation in MT-ND3: a case report, systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shi Y,
|
||
Chen B,
|
||
Niu S,
|
||
Wang X,
|
||
Zhang Z</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2025 Feb 8;20(1):59.
|
||
doi: 10.1186/s13023-025-03588-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39923090" target="_blank">39923090</a><a href="/pmc/articles/PMC11806901" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Combined%20oxidative%20phosphorylation%20deficiency%2059%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 (1)</a></div></div>
|
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|
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