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<meta name="keywords" content="C4551958, disease or syndrome, mitochondrial myopathy and sideroblastic anaemia, mitochondrial myopathy and sideroblastic anemia, mlasa1, myopathy, lactic acidosis, and sideroblastic anaemia caused by mutation in pus1, myopathy, lactic acidosis, and sideroblastic anemia 1, myopathy, lactic acidosis, and sideroblastic anemia caused by mutation in pus1, pus1, pus1 myopathy, lactic acidosis, and sideroblastic anaemia, pus1 myopathy, lactic acidosis, and sideroblastic anemia, 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="Myopathy, lactic acidosis, and sideroblastic anemia (MLASA) is a rare autosomal recessive oxidative phosphorylation disorder specific to skeletal muscle and bone marrow (Bykhovskaya et al., 2004).&#13; Genetic Heterogeneity of Myopathy, Lactic Acidosis, and Sideroblastic Anemia &#13; MLASA2 (613561) is caused by mutation in the YARS2 gene (610957) on chromosome 12p11. MLASA3 (500011) is caused by heteroplasmic mutation in the mitochondrially-encoded MTATP6 gene (516060)." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Myopathy, lactic acidosis, and sideroblastic anemia 1 (Concept Id: C4551958)
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<!--
UID=1634824
ConceptID=C4551958
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Myopathy, lactic acidosis, and sideroblastic anemia 1<span class="h1sub">(MLASA1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1634824</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information."><span class="highlight" style="background-color:">C4551958</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>MLASA1</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="PUS1 - ID: 80324 - NCBI Gene" href="/gene/80324" class="medgenPMinfo">PUS1</a> (12q24.33)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0024553" target="_blank">MONDO:0024553</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/600462" target="_blank">600462</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">Myopathy, lactic acidosis, and sideroblastic anemia (MLASA) is a rare autosomal recessive oxidative phosphorylation disorder specific to skeletal muscle and bone marrow (Bykhovskaya et al., 2004).&#13; Genetic Heterogeneity of Myopathy, Lactic Acidosis, and Sideroblastic Anemia &#13; MLASA2 (613561) is caused by mutation in the YARS2 gene (610957) on chromosome 12p11. MLASA3 (500011) is caused by heteroplasmic mutation in the mitochondrially-encoded MTATP6 gene (516060). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
</div>
<div class="portlet mgSection" id="ID_102">
<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_603270"><div><strong>Exercise intolerance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>603270</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0424551</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/603270">Feature record</a> | <a href="/medgen?term=%22Exercise%20intolerance%22%5BClinical%20Features%5D%20OR%20603270%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_66822"><div><strong>Scapular winging</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66822</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0240953</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Abnormal protrusion of the scapula away from the surface of the back.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/66822">Feature record</a> | <a href="/medgen?term=%22Scapular%20winging%22%5BClinical%20Features%5D%20OR%2066822%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_99124"><div><strong>Growth delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99124</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0456070</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
<div class="spaceAbove">A deficiency or slowing down of growth pre- and postnatally.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/99124">Feature record</a> | <a href="/medgen?term=%22Growth%20delay%22%5BClinical%20Features%5D%20OR%2099124%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)&#10;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_9386"><div><strong>Hypopituitarism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9386</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0020635</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A condition of diminution or cessation of secretion of one or more hormones from the anterior pituitary gland. This may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/9386">Feature record</a> | <a href="/medgen?term=%22Hypopituitarism%22%5BClinical%20Features%5D%20OR%209386%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_8065"><div><strong>Hypochromic anemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8065</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0002884</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/8065">Feature record</a> | <a href="/medgen?term=%22Hypochromic%20anemia%22%5BClinical%20Features%5D%20OR%208065%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_8067"><div><strong>Sideroblastic anemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8067</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0002896</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/8067">Feature record</a> | <a href="/medgen?term=%22Sideroblastic%20anemia%22%5BClinical%20Features%5D%20OR%208067%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_4536"><div><strong>Erythroid hyperplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4536</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0014800</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/4536">Feature record</a> | <a href="/medgen?term=%22Erythroid%20hyperplasia%22%5BClinical%20Features%5D%20OR%204536%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_137696"><div><strong>Pappenheimer bodies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>137696</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0333814</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A type of erythrocyte inclusion characterized by basophilic stippling of erythrocytes, that is, by numerous very small coarse or fine blue granules within the cytoplasm with the additional stipulation that the stippled particles are due to iron granules (demonstrable by the Prussian blue stain).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/137696">Feature record</a> | <a href="/medgen?term=%22Pappenheimer%20bodies%22%5BClinical%20Features%5D%20OR%20137696%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1673948"><div><strong>Microcytic anemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1673948</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5194182</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A kind of anemia in which the volume of the red blood cells is reduced.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1673948">Feature record</a> | <a href="/medgen?term=%22Microcytic%20anemia%22%5BClinical%20Features%5D%20OR%201673948%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_9805"><div><strong>Hyperlordosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9805</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0024003</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/9805">Feature record</a> | <a href="/medgen?term=%22Hyperlordosis%22%5BClinical%20Features%5D%20OR%209805%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_44428"><div><strong>Micrognathia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44428</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0025990</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Developmental hypoplasia of the mandible.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/44428">Feature record</a> | <a href="/medgen?term=%22Micrognathia%22%5BClinical%20Features%5D%20OR%2044428%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)&#10;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_57735"><div><strong>Muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57735</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0151786</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Reduced strength of muscles.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/57735">Feature record</a> | <a href="/medgen?term=%22Muscle%20weakness%22%5BClinical%20Features%5D%20OR%2057735%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_65865"><div><strong>Gowers sign</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65865</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0234182</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/65865">Feature record</a> | <a href="/medgen?term=%22Gowers%20sign%22%5BClinical%20Features%5D%20OR%2065865%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_68704"><div><strong>Progressive muscle weakness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68704</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0240421</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/68704">Feature record</a> | <a href="/medgen?term=%22Progressive%20muscle%20weakness%22%5BClinical%20Features%5D%20OR%2068704%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_333018"><div><strong>Generalized limb muscle atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333018</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1838114</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Generalized (unlocalized) atrophy affecting muscles of the limbs in both proximal and distal locations.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/333018">Feature record</a> | <a href="/medgen?term=%22Generalized%20limb%20muscle%20atrophy%22%5BClinical%20Features%5D%20OR%20333018%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_336793"><div><strong>Joint hypermobility</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336793</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1844820</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/336793">Feature record</a> | <a href="/medgen?term=%22Joint%20hypermobility%22%5BClinical%20Features%5D%20OR%20336793%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_346841"><div><strong>Generalized hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346841</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1858120</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Generalized muscular hypotonia (abnormally low muscle tone).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/346841">Feature record</a> | <a href="/medgen?term=%22Generalized%20hypotonia%22%5BClinical%20Features%5D%20OR%20346841%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_477048"><div><strong>Ragged-red muscle fibers</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>477048</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3275417</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/477048">Feature record</a> | <a href="/medgen?term=%22Ragged-red%20muscle%20fibers%22%5BClinical%20Features%5D%20OR%20477048%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_867360"><div><strong>Cytochrome C oxidase-negative muscle fibers</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867360</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4021724</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An abnormally reduced activity of the enzyme cytochrome C oxidase in muscle tissue.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/867360">Feature record</a> | <a href="/medgen?term=%22Cytochrome%20C%20oxidase-negative%20muscle%20fibers%22%5BClinical%20Features%5D%20OR%20867360%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1644158"><div><strong>Microcephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1644158</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4551563</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Head circumference below 2 standard deviations below the mean for age and gender.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1644158">Feature record</a> | <a href="/medgen?term=%22Microcephaly%22%5BClinical%20Features%5D%20OR%201644158%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_478856"><div><strong>Restrictive ventilatory defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>478856</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3277226</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/478856">Feature record</a> | <a href="/medgen?term=%22Restrictive%20ventilatory%20defect%22%5BClinical%20Features%5D%20OR%20478856%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1717"><div><strong>Lactic acidosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1717</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0001125</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1717">Feature record</a> | <a href="/medgen?term=%22Lactic%20acidosis%22%5BClinical%20Features%5D%20OR%201717%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_69130"><div><strong>Increased circulating ferritin concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>69130</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0241013</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Increased concentration of ferritin in the blood circulation.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/69130">Feature record</a> | <a href="/medgen?term=%22Increased%20circulating%20ferritin%20concentration%22%5BClinical%20Features%5D%20OR%2069130%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)&#10;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_66814"><div><strong>High palate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66814</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0240635</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/66814">Feature record</a> | <a href="/medgen?term=%22High%20palate%22%5BClinical%20Features%5D%20OR%2066814%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_334631"><div><strong>Depressed nasal ridge</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334631</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1842876</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/334631">Feature record</a> | <a href="/medgen?term=%22Depressed%20nasal%20ridge%22%5BClinical%20Features%5D%20OR%20334631%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_69133"><div><strong>Pallor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>69133</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0241137</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Abnormally pale skin.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/69133">Feature record</a> | <a href="/medgen?term=%22Pallor%22%5BClinical%20Features%5D%20OR%2069133%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_98074"><div><strong>Distichiasis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98074</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0423848</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Double rows of eyelashes.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/98074">Feature record</a> | <a href="/medgen?term=%22Distichiasis%22%5BClinical%20Features%5D%20OR%2098074%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_46203"><div><strong>Delayed puberty</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>46203</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0034012</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
<div class="spaceAbove">Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/46203">Feature record</a> | <a href="/medgen?term=%22Delayed%20puberty%22%5BClinical%20Features%5D%20OR%2046203%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_9373"><div><strong>Hypertelorism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9373</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0020534</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/9373">Feature record</a> | <a href="/medgen?term=%22Hypertelorism%22%5BClinical%20Features%5D%20OR%209373%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1643295"><div><strong>Pigmentary retinopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1643295</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4551715</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1643295">Feature record</a> | <a href="/medgen?term=%22Pigmentary%20retinopathy%22%5BClinical%20Features%5D%20OR%201643295%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)&#10;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)&#10;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(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).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></ul></li><li><span class="TLline">Abnormality of blood and blood-forming tissues</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4536" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Erythroid hyperplasia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8065" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypochromic anemia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1673948" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcytic anemia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_137696" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pappenheimer bodies</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8067" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sideroblastic anemia</a></span></li></ul></li><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_334631" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Depressed nasal ridge</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66814" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">High palate</a></span></li></ul></li><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66822" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Scapular winging</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_69130" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased circulating ferritin concentration</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_1717" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lactic acidosis</a></span></li></ul></li><li><span class="TLline">Abnormality of the endocrine system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_46203" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed puberty</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_9373" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertelorism</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1643295" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pigmentary retinopathy</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98074" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Distichiasis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_69133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pallor</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_867360" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cytochrome C oxidase-negative muscle fibers</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_346841" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized hypotonia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_333018" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized limb muscle atrophy</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65865" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gowers sign</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9805" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperlordosis</a></span></li><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><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_336793" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Joint hypermobility</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1644158" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_44428" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Micrognathia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57735" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscle weakness</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68704" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive muscle weakness</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_477048" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ragged-red muscle fibers</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_9386" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypopituitarism</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</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_478856" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Restrictive ventilatory defect</a></span></li></ul></li><li><span class="TLline">Constitutional symptom</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_603270" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Exercise intolerance</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><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_99124" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Growth delay</a></span></li></ul></li></ul></div></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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1838103[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=373888">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=373888" target="_blank" href="/omim/600462">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=373888" ref="ncbi_uid=373888">V</a></span></span><span class="TLline"><a href="/medgen/373888" ref="tree=GTR&amp;ncbi_uid=373888&amp;link_uid=373888" title="View MedGen record for 'Myopathy, lactic acidosis, and sideroblastic anemia'">Myopathy, lactic acidosis, and sideroblastic anemia</a></span><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4551958[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=1634824">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1634824" target="_blank" href="/omim/600462">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=1634824" ref="ncbi_uid=1634824">V</a></span></span><span class="TLline">Myopathy, lactic acidosis, and sideroblastic anemia 1</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3150802[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=462152">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462152" target="_blank" href="/omim/610957">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=462152" ref="ncbi_uid=462152">V</a></span></span><span class="TLline"><a href="/medgen/462152" ref="tree=GTR&amp;ncbi_uid=462152&amp;link_uid=462152" title="View MedGen record for 'Myopathy, lactic acidosis, and sideroblastic anemia 2'">Myopathy, lactic acidosis, and sideroblastic anemia 2</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/163092" ref="tree=MeSH" title="MedGen record for Abnormality of blood and blood-forming tissues">Abnormality of blood and blood-forming tissues</a></span><ul><li><span class="TLline"><a href="/medgen/488883" ref="tree=MeSH" title="MedGen record for Abnormal erythrocyte morphology">Abnormal erythrocyte morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1526" ref="tree=MeSH" title="MedGen record for Anemia">Anemia</a></span><ul><li><span class="TLline"><a href="/medgen/102361" ref="tree=MeSH" title="MedGen record for Congenital anemia">Congenital anemia</a></span><ul><li><span class="TLline"><a href="/medgen/65119" ref="tree=MeSH" title="MedGen record for Hereditary sideroblastic anemia">Hereditary sideroblastic anemia</a></span><ul><li><span class="TLline"><a href="/medgen/373888" ref="tree=MeSH" title="MedGen record for Myopathy, lactic acidosis, and sideroblastic anemia">Myopathy, lactic acidosis, and sideroblastic anemia</a></span><ul><li><span class="matched_ds">Myopathy, lactic acidosis, and sideroblastic anemia 1</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></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/39148116">Severe pulmonary arterial hypertension in congenital sideroblastic anemia from PUS1 mutation - a case report.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kothari SS,
Shah J,
Sharma V,
Charaniya R,
Parikh R,
Vaniawala SN</span><br />
<span class="medgenPMjournal">BMC Med Genomics</span>
2024 Aug 15;17(1):213.
doi: 10.1186/s12920-024-01983-8.
<span class="bold">PMID: </span><a href="/pubmed/39148116" target="_blank">39148116</a><a href="/pmc/articles/PMC11325830" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30588737">Sideroblastic anemia associated with multisystem mitochondrial disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tesarova M,
Vondrackova A,
Stufkova H,
Veprekova L,
Stranecky V,
Berankova K,
Hansikova H,
Magner M,
Galoova N,
Honzik T,
Vodickova E,
Stary J,
Zeman J</span><br />
<span class="medgenPMjournal">Pediatr Blood Cancer</span>
2019 Apr;66(4):e27591.
Epub 2018 Dec 26
doi: 10.1002/pbc.27591.
<span class="bold">PMID: </span><a href="/pubmed/30588737" target="_blank">30588737</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20598274">Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Riley LG,
Cooper S,
Hickey P,
Rudinger-Thirion J,
McKenzie M,
Compton A,
Lim SC,
Thorburn D,
Ryan MT,
Giegé R,
Bahlo M,
Christodoulou J</span><br />
<span class="medgenPMjournal">Am J Hum Genet</span>
2010 Jul 9;87(1):52-9.
doi: 10.1016/j.ajhg.2010.06.001.
<span class="bold">PMID: </span><a href="/pubmed/20598274" target="_blank">20598274</a><a href="/pmc/articles/PMC2896778" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myopathy%2C%20lactic%20acidosis%2C%20and%20sideroblastic%20anemia%201%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 (3)</a></div><h3 class="subhead">Diagnosis</h3>
<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/28064324">Mitochondrial iron-sulfur cluster biogenesis from molecular understanding to clinical disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Alfadhel M,
Nashabat M,
Abu Ali Q,
Hundallah K</span><br />
<span class="medgenPMjournal">Neurosciences (Riyadh)</span>
2017 Jan;22(1):4-13.
doi: 10.17712/nsj.2017.1.20160542.
<span class="bold">PMID: </span><a href="/pubmed/28064324" target="_blank">28064324</a><a href="/pmc/articles/PMC5726836" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25227147">Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthood.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Metodiev MD,
Assouline Z,
Landrieu P,
Chretien D,
Bader-Meunier B,
Guitton C,
Munnich A,
Rötig A</span><br />
<span class="medgenPMjournal">Eur J Hum Genet</span>
2015 Jun;23(6):880-2.
Epub 2014 Sep 17
doi: 10.1038/ejhg.2014.192.
<span class="bold">PMID: </span><a href="/pubmed/25227147" target="_blank">25227147</a><a href="/pmc/articles/PMC4795040" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23918765">A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Shahni R,
Wedatilake Y,
Cleary MA,
Lindley KJ,
Sibson KR,
Rahman S</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2013 Sep;161A(9):2334-8.
Epub 2013 Aug 5
doi: 10.1002/ajmg.a.36065.
<span class="bold">PMID: </span><a href="/pubmed/23918765" target="_blank">23918765</a><a href="/pmc/articles/PMC3884767" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myopathy%2C%20lactic%20acidosis%2C%20and%20sideroblastic%20anemia%201%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 (4)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/30588737">Sideroblastic anemia associated with multisystem mitochondrial disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tesarova M,
Vondrackova A,
Stufkova H,
Veprekova L,
Stranecky V,
Berankova K,
Hansikova H,
Magner M,
Galoova N,
Honzik T,
Vodickova E,
Stary J,
Zeman J</span><br />
<span class="medgenPMjournal">Pediatr Blood Cancer</span>
2019 Apr;66(4):e27591.
Epub 2018 Dec 26
doi: 10.1002/pbc.27591.
<span class="bold">PMID: </span><a href="/pubmed/30588737" target="_blank">30588737</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/24894379">A framework for application of metabolic modeling in yeast to predict the effects of nsSNV in human orthologs.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dingerdissen H,
Weaver DS,
Karp PD,
Pan Y,
Simonyan V,
Mazumder R</span><br />
<span class="medgenPMjournal">Biol Direct</span>
2014 Jun 3;9:9.
doi: 10.1186/1745-6150-9-9.
<span class="bold">PMID: </span><a href="/pubmed/24894379" target="_blank">24894379</a><a href="/pmc/articles/PMC4057618" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24430573">A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Nakajima J,
Eminoglu TF,
Vatansever G,
Nakashima M,
Tsurusaki Y,
Saitsu H,
Kawashima H,
Matsumoto N,
Miyake N</span><br />
<span class="medgenPMjournal">J Hum Genet</span>
2014 Apr;59(4):229-32.
Epub 2014 Jan 16
doi: 10.1038/jhg.2013.143.
<span class="bold">PMID: </span><a href="/pubmed/24430573" target="_blank">24430573</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17056637">Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fernandez-Vizarra E,
Berardinelli A,
Valente L,
Tiranti V,
Zeviani M</span><br />
<span class="medgenPMjournal">J Med Genet</span>
2007 Mar;44(3):173-80.
Epub 2006 Oct 20
doi: 10.1136/jmg.2006.045252.
<span class="bold">PMID: </span><a href="/pubmed/17056637" target="_blank">17056637</a><a href="/pmc/articles/PMC2598032" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myopathy%2C%20lactic%20acidosis%2C%20and%20sideroblastic%20anemia%201%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 (5)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/39148116">Severe pulmonary arterial hypertension in congenital sideroblastic anemia from PUS1 mutation - a case report.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kothari SS,
Shah J,
Sharma V,
Charaniya R,
Parikh R,
Vaniawala SN</span><br />
<span class="medgenPMjournal">BMC Med Genomics</span>
2024 Aug 15;17(1):213.
doi: 10.1186/s12920-024-01983-8.
<span class="bold">PMID: </span><a href="/pubmed/39148116" target="_blank">39148116</a><a href="/pmc/articles/PMC11325830" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/38635773">Mitochondrial tRNA pseudouridylation governs erythropoiesis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wang B,
Shi D,
Yang S,
Lian Y,
Li H,
Cao M,
He Y,
Zhang L,
Qiu C,
Liu T,
Wen W,
Ma Y,
Shi L,
Cheng T,
Shi L,
Yuan W,
Chu Y,
Shi J</span><br />
<span class="medgenPMjournal">Blood</span>
2024 Aug 8;144(6):657-671.
doi: 10.1182/blood.2023022004.
<span class="bold">PMID: </span><a href="/pubmed/38635773" target="_blank">38635773</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/24894379">A framework for application of metabolic modeling in yeast to predict the effects of nsSNV in human orthologs.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dingerdissen H,
Weaver DS,
Karp PD,
Pan Y,
Simonyan V,
Mazumder R</span><br />
<span class="medgenPMjournal">Biol Direct</span>
2014 Jun 3;9:9.
doi: 10.1186/1745-6150-9-9.
<span class="bold">PMID: </span><a href="/pubmed/24894379" target="_blank">24894379</a><a href="/pmc/articles/PMC4057618" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17056637">Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fernandez-Vizarra E,
Berardinelli A,
Valente L,
Tiranti V,
Zeviani M</span><br />
<span class="medgenPMjournal">J Med Genet</span>
2007 Mar;44(3):173-80.
Epub 2006 Oct 20
doi: 10.1136/jmg.2006.045252.
<span class="bold">PMID: </span><a href="/pubmed/17056637" target="_blank">17056637</a><a href="/pmc/articles/PMC2598032" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Myopathy%2C%20lactic%20acidosis%2C%20and%20sideroblastic%20anemia%201%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 (5)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4551958%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (29)</a></li>
<li><a href="/gtr/tests?term=C4551958%5bDISCUI%5d&amp;filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (2)</a></li>
<li><a href="/gtr/tests?term=C4551958%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (38)</a></li>
<li><a href="/gtr/tests?term=C4551958%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (7)</a></li>
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