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[{"id":41927933,"identifier":"Attachment_41927933","shouldShowBulkDownload":false}]; window.loswp.shouldDetectTimezone = true; window.loswp.shouldShowBulkDownload = true; window.loswp.showSignupCaptcha = false window.loswp.willEdgeCache = false; window.loswp.work = {"work":{"id":20743373,"created_at":"2016-01-24T22:59:35.270-08:00","from_world_paper_id":146884010,"updated_at":"2024-11-30T08:42:02.459-08:00","_data":{"ai_title_tag":"MELAS: Brain Abnormalities and Clinical Findings in Autopsy Cases","grobid_abstract":"We describe the clinical and neuropathological findings of three unrelated autopsy cases of MELAS harboring the A3243G transition in the mitochondrial DNA (mtDNA). Using immunohistochemical techniques, we studied the expression of several subunits of the respiratory chain in various brain regions from the same cases. In all three cases there was a reduced immunocytochemical staining for mtDNA-encoded subunits of the respiratory chain, confirming the presence of a defective mitochondrial protein synthesis in this disease. Mitochondrial abnormalities were mostly confined to multiple areas of different size and shape, in agreement with the focal character of the brain pathology in MELAS, and were most prominent in the cerebral cortex, providing a morphological contribution to the explanation of the cognitive regression of the patients. Immunoreactivity for mtDNA-encoded subunits was reduced in the walls of many pial and intracerebral arterioles of different brain regions but there was no clear correlation between territories of affected vessels and distribution of the histological and immunohistochemical lesions. Cerebral focal lesions in MELAS might have a metabolic nature and several pathogenetic mechanisms might be involved in the genesis of stroke-like episodes when there is a local increased ATP demand.","publication_date":"2003,,","publication_name":"Acta Neuropathologica","grobid_abstract_attachment_id":"41927933"},"document_type":"paper","pre_hit_view_count_baseline":null,"quality":"high","language":"en","title":"MELAS: clinical phenotype and morphological brain abnormalities","broadcastable":false,"draft":null,"has_indexable_attachment":true,"indexable":true}}["work"]; window.loswp.workCoauthors = [32801722,32737738,42040054]; window.loswp.locale = "en"; window.loswp.countryCode = "SG"; window.loswp.cwvAbTestBucket = ""; window.loswp.designVariant = "ds_vanilla"; window.loswp.fullPageMobileSutdModalVariant = "full_page_mobile_sutd_modal"; window.loswp.useOptimizedScribd4genScript = false; window.loswp.appleClientId = 'edu.academia.applesignon';</script><script defer="" 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20px" translate="no">download</span><p>Download Free PDF</p></div><div class="ds-work-cover--ribbon-container">Download Free PDF</div><div class="ds-work-cover--ribbon-triangle"></div></button></div></div></div><div class="ds-work-card--work-information"><h1 class="ds-work-card--work-title">MELAS: clinical phenotype and morphological brain abnormalities</h1><div class="ds-work-card--work-authors ds-work-card--detail"><a class="ds-work-card--author js-wsj-grid-card-author ds2-5-body-md ds2-5-body-link" data-author-id="32801722" href="https://independent.academia.edu/AlessandroSimonati"><img alt="Profile image of Alessandro Simonati" class="ds-work-card--author-avatar" src="//a.academia-assets.com/images/s65_no_pic.png" />Alessandro Simonati</a><a class="ds-work-card--author js-wsj-grid-card-author ds2-5-body-md ds2-5-body-link" data-author-id="32737738" href="https://independent.academia.edu/MarcoSparaco"><img alt="Profile image of Marco Sparaco" class="ds-work-card--author-avatar" src="//a.academia-assets.com/images/s65_no_pic.png" />Marco Sparaco</a><a class="ds-work-card--author js-wsj-grid-card-author ds2-5-body-md ds2-5-body-link" data-author-id="42040054" href="https://independent.academia.edu/LucaMorelli1"><img alt="Profile image of Luca Morelli" class="ds-work-card--author-avatar" src="//a.academia-assets.com/images/s65_no_pic.png" />Luca Morelli</a></div><div class="ds-work-card--detail"><p class="ds-work-card--detail ds2-5-body-sm">2003, Acta Neuropathologica</p></div><div class="ds-work-card--button-container"><button class="ds2-5-button js-swp-download-button" data-signup-modal="{"location":"continue-reading-button--work-card","attachmentId":41927933,"attachmentType":"pdf","workUrl":"https://www.academia.edu/20743373/MELAS_clinical_phenotype_and_morphological_brain_abnormalities"}">See full PDF</button><button class="ds2-5-button ds2-5-button--secondary js-swp-download-button" 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data-entity-id="94437949" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/94437949/Functional_Mitochondrial_Heterogeneity_in_Heteroplasmic_Cells_Carrying_the_Mitochondrial_DNA_Mutation_Associated_with_the_MELAS_Syndrome_Mitochondrial_Encephalopathy_Lactic_Acidosis_and_Strokelike_Episodes_">Functional Mitochondrial Heterogeneity in Heteroplasmic Cells Carrying the Mitochondrial DNA Mutation Associated with the MELAS Syndrome (Mitochondrial Encephalopathy, Lactic Acidosis, and Strokelike Episodes)</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="22672353" href="https://u-bordeaux.academia.edu/JeanPierreMAZAT">Jean-Pierre MAZAT</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Pediatric Research, 2000</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Functional Mitochondrial Heterogeneity in Heteroplasmic Cells Carrying the Mitochondrial DNA Mutation Associated with the MELAS Syndrome (Mitochondrial Encephalopathy, Lactic Acidosis, and Strokelike Episodes)","attachmentId":96894290,"attachmentType":"pdf","work_url":"https://www.academia.edu/94437949/Functional_Mitochondrial_Heterogeneity_in_Heteroplasmic_Cells_Carrying_the_Mitochondrial_DNA_Mutation_Associated_with_the_MELAS_Syndrome_Mitochondrial_Encephalopathy_Lactic_Acidosis_and_Strokelike_Episodes_","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/94437949/Functional_Mitochondrial_Heterogeneity_in_Heteroplasmic_Cells_Carrying_the_Mitochondrial_DNA_Mutation_Associated_with_the_MELAS_Syndrome_Mitochondrial_Encephalopathy_Lactic_Acidosis_and_Strokelike_Episodes_"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="1" data-entity-id="124566880" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/124566880/Natural_history_of_MELAS_associated_with_mitochondrial_DNA_m_3243A_and_gt_G_genotype">Natural history of MELAS associated with mitochondrial DNA m.3243A&gt;G genotype</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="94055583" href="https://weillcornell.academia.edu/DShungu">Dikoma C Shungu</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Neurology, 2011</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Natural history of MELAS associated with mitochondrial DNA m.3243A\u0026gt;G genotype","attachmentId":118767773,"attachmentType":"pdf","work_url":"https://www.academia.edu/124566880/Natural_history_of_MELAS_associated_with_mitochondrial_DNA_m_3243A_and_gt_G_genotype","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/124566880/Natural_history_of_MELAS_associated_with_mitochondrial_DNA_m_3243A_and_gt_G_genotype"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="2" data-entity-id="18125419" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/18125419/A_point_mutation_in_the_mitochondrial_tRNALeu_UUR_gene_in_melas_mitochondrial_myopathy_encephalopathy_lactic_acidosis_and_stroke_like_episodes_">A point mutation in the mitochondrial tRNALeu(UUR) gene in melas (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes)</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="38082862" href="https://independent.academia.edu/YasuoKagawa">Yasuo Kagawa</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Biochemical and Biophysical Research Communications, 1990</p><p class="ds-related-work--abstract ds2-5-body-sm">Mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike episode (MELAS) is a major group of heterogeneous mitochondrial disorders. To identify the defective gene, mitochondrial DNA from a patient with MELAS was sequenced by using amplified DNA fragments as sequencing templates. In 14.1 kbp determined out of 16.6 kbp of the whole mitochondrial gene, at least 21 nucleotides were different from those of a control human mitochondrial DNA. One of the substitutions was a transition of A to G in the tRNA(Leu) (UUR) gene at Cambridge nucleotide number 3,243. This nucleotide is conserved not only in many mitochondrial tRNAs but in most cytosolic tRNA molecules. An Apa I restriction site was gained by the substitution of this nucleotide. The Apa I digestion of the amplified DNA fragment revealed that all independent 6 patients had G at nucleotide number 3,243 in their mitochondrial DNAs, but none of 11 control individuals had G at this position. This result strongly suggests that the mutation in the mitochondrial tRNALeu gene causes MELAS.</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"A point mutation in the mitochondrial tRNALeu(UUR) gene in melas (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes)","attachmentId":42191782,"attachmentType":"pdf","work_url":"https://www.academia.edu/18125419/A_point_mutation_in_the_mitochondrial_tRNALeu_UUR_gene_in_melas_mitochondrial_myopathy_encephalopathy_lactic_acidosis_and_stroke_like_episodes_","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/18125419/A_point_mutation_in_the_mitochondrial_tRNALeu_UUR_gene_in_melas_mitochondrial_myopathy_encephalopathy_lactic_acidosis_and_stroke_like_episodes_"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="3" data-entity-id="56011619" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/56011619/Contribution_of_nuclear_and_mitochondrial_gene_mutations_in_mitochondrial_encephalopathy_lactic_acidosis_and_stroke_like_episodes_MELAS_syndrome">Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="68264511" href="https://manipal.academia.edu/PradyumnaJ">Pradyumna Jayaram</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Journal of Neurology</p><p class="ds-related-work--abstract ds2-5-body-sm">Background Mitochondrial disorders are clinically complex and have highly variable phenotypes among all inherited disorders. Mutations in mitochon drial DNA (mtDNA) and nuclear genome or both have been reported in mitochondrial diseases suggesting common pathophysiological pathways. Considering the clinical heterogeneity of mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) phenotype including focal neurological deficits, it is important to look beyond mitochondrial gene mutation. Methods The clinical, histopathological, biochemical analysis for OXPHOS enzyme activity, and electron microscopic, and neuroimaging analysis was performed to diagnose 11 patients with MELAS syndrome with a multisystem presentation. In addition, whole exome sequencing (WES) and whole mitochondrial genome sequencing were performed to identify nuclear and mitochondrial mutations. Results Analysis of whole mtDNA sequence identified classical pathogenic mutation m.3243A &gt; G in se...</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome","attachmentId":71607405,"attachmentType":"pdf","work_url":"https://www.academia.edu/56011619/Contribution_of_nuclear_and_mitochondrial_gene_mutations_in_mitochondrial_encephalopathy_lactic_acidosis_and_stroke_like_episodes_MELAS_syndrome","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/56011619/Contribution_of_nuclear_and_mitochondrial_gene_mutations_in_mitochondrial_encephalopathy_lactic_acidosis_and_stroke_like_episodes_MELAS_syndrome"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="4" data-entity-id="15092009" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/15092009/Mitochondrial_myopathy_encephalopathy_lactic_acidosis_and_strokelike_episodes_MELAS_syndrome_CT_and_MR_findings_in_seven_children">Mitochondrial myopathy-encephalopathy-lactic acidosis-and strokelike episodes (MELAS) syndrome: CT and MR findings in seven children</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="34926989" href="https://bcm.academia.edu/FernandoScaglia">Fernando Scaglia</a><span>, </span><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="34120388" href="https://okayama-u-jp.academia.edu/ShigeruOkada">Shigeru Okada</a></div><p class="ds-related-work--metadata ds2-5-body-xs">American Journal of Roentgenology, 1996</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Mitochondrial myopathy-encephalopathy-lactic acidosis-and strokelike episodes (MELAS) syndrome: CT and MR findings in seven children","attachmentId":43589860,"attachmentType":"pdf","work_url":"https://www.academia.edu/15092009/Mitochondrial_myopathy_encephalopathy_lactic_acidosis_and_strokelike_episodes_MELAS_syndrome_CT_and_MR_findings_in_seven_children","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/15092009/Mitochondrial_myopathy_encephalopathy_lactic_acidosis_and_strokelike_episodes_MELAS_syndrome_CT_and_MR_findings_in_seven_children"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="5" data-entity-id="68560144" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/68560144/Pathology_of_mitochondria_in_MELAS_syndrome_an_ultrastructural_study">Pathology of mitochondria in MELAS syndrome: an ultrastructural study</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="71316895" href="https://independent.academia.edu/UrszulaLechowicz">Urszula Lechowicz</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Polish Journal of Pathology</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Pathology of mitochondria in MELAS syndrome: an ultrastructural study","attachmentId":78993205,"attachmentType":"pdf","work_url":"https://www.academia.edu/68560144/Pathology_of_mitochondria_in_MELAS_syndrome_an_ultrastructural_study","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/68560144/Pathology_of_mitochondria_in_MELAS_syndrome_an_ultrastructural_study"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="6" data-entity-id="36357290" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/36357290/A_Follow_up_Study_in_a_Taiwanese_Family_with_Mitochondrial_Myopathy_Encephalopathy_Lactic_Acidosis_and_Stroke_like_Episodes_Syndrome">A Follow-up Study in a Taiwanese Family with Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis and Stroke-like Episodes Syndrome</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="35613279" href="https://ym.academia.edu/YauhueiWei">Yau-huei Wei</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Journal of the Formosan Medical Association, 2007</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"A Follow-up Study in a Taiwanese Family with Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis and Stroke-like Episodes Syndrome","attachmentId":56266226,"attachmentType":"pdf","work_url":"https://www.academia.edu/36357290/A_Follow_up_Study_in_a_Taiwanese_Family_with_Mitochondrial_Myopathy_Encephalopathy_Lactic_Acidosis_and_Stroke_like_Episodes_Syndrome","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/36357290/A_Follow_up_Study_in_a_Taiwanese_Family_with_Mitochondrial_Myopathy_Encephalopathy_Lactic_Acidosis_and_Stroke_like_Episodes_Syndrome"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="7" data-entity-id="63245885" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/63245885/MELAS_syndrome_correlation_between_clinical_features_and_molecular_genetic_analysis">MELAS syndrome: correlation between clinical features and molecular genetic analysis</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="32983788" href="https://independent.academia.edu/ChinchangHuang">Chin-chang Huang</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Acta Neurologica Scandinavica, 2009</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"MELAS syndrome: correlation between clinical features and molecular genetic analysis","attachmentId":75736287,"attachmentType":"pdf","work_url":"https://www.academia.edu/63245885/MELAS_syndrome_correlation_between_clinical_features_and_molecular_genetic_analysis","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/63245885/MELAS_syndrome_correlation_between_clinical_features_and_molecular_genetic_analysis"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="8" data-entity-id="25396971" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/25396971/MELAS_Clinical_features_biochemistry_and_molecular_genetics">MELAS: Clinical features, biochemistry, and molecular genetics</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="48854986" href="https://independent.academia.edu/AndreaMartinuzzi">Andrea Martinuzzi</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Annals of Neurology, 1992</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"MELAS: Clinical features, biochemistry, and molecular genetics","attachmentId":45711167,"attachmentType":"pdf","work_url":"https://www.academia.edu/25396971/MELAS_Clinical_features_biochemistry_and_molecular_genetics","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/25396971/MELAS_Clinical_features_biochemistry_and_molecular_genetics"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="9" data-entity-id="73424474" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/73424474/A_new_disease_related_mutation_for_mitochondrial_encephalopathy_lactic_acidosis_and_strokelike_episodes_MELAS_syndrome_affects_the_ND4_subunit_of_the_respiratory_complex_I">A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="203587879" href="https://independent.academia.edu/RobertKapsa">Robert Kapsa</a></div><p class="ds-related-work--metadata ds2-5-body-xs">American journal of human genetics, 1992</p><p class="ds-related-work--abstract ds2-5-body-sm">The molecular lesions in two patients exhibiting classical clinical manifestations of MELAS (mitochondrial encephalopathy, lactic acidosis, and strokelike episodes) syndrome have been investigated. A recently reported disease-related A----G base substitution at nt 3243 of the mtDNA, in the DHU loop of tRNA(Leu), was detected by restriction-enzyme analysis of the relevant PCR-amplified segment of the mtDNA of one patient but was not observed, by either restriction-enzyme analysis or nucleotide sequencing, in the other. To define the molecular lesion in the patient who does not have the A----G base substitution at nt 3243, the total mitochondrial genome of the patient has been sequenced. An A----G base substitution at nt 11084, leading to a Thr-to-Ala amino acid replacement in the ND4 subunit of the respiratory complex I, is suggested to be a disease-related mutation.</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I","attachmentId":83865752,"attachmentType":"pdf","work_url":"https://www.academia.edu/73424474/A_new_disease_related_mutation_for_mitochondrial_encephalopathy_lactic_acidosis_and_strokelike_episodes_MELAS_syndrome_affects_the_ND4_subunit_of_the_respiratory_complex_I","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/73424474/A_new_disease_related_mutation_for_mitochondrial_encephalopathy_lactic_acidosis_and_strokelike_episodes_MELAS_syndrome_affects_the_ND4_subunit_of_the_respiratory_complex_I"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div></div></div><div class="ds-sticky-ctas--wrapper js-loswp-sticky-ctas hidden"><div class="ds-sticky-ctas--grid-container"><div class="ds-sticky-ctas--container"><button class="ds2-5-button js-swp-download-button" data-signup-modal="{"location":"continue-reading-button--sticky-ctas","attachmentId":41927933,"attachmentType":"pdf","workUrl":null}">See full PDF</button><button class="ds2-5-button ds2-5-button--secondary js-swp-download-button" data-signup-modal="{"location":"download-pdf-button--sticky-ctas","attachmentId":41927933,"attachmentType":"pdf","workUrl":null}"><span class="material-symbols-outlined" style="font-size: 20px" translate="no">download</span>Download PDF</button></div></div></div><div class="ds-below-fold--grid-container"><div class="ds-work--container js-loswp-embedded-document"><div class="attachment_preview" data-attachment="Attachment_41927933" style="display: none"><div class="js-scribd-document-container"><div class="scribd--document-loading js-scribd-document-loader" style="display: block;"><img alt="Loading..." src="//a.academia-assets.com/images/loaders/paper-load.gif" /><p>Loading Preview</p></div></div><div style="text-align: center;"><div class="scribd--no-preview-alert js-preview-unavailable"><p>Sorry, preview is currently unavailable. 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data-collection-position="14" data-entity-id="28081581" data-sort-order="default"><a class="ds-related-work--title js-related-work-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/28081581/Clinical_and_EEG_findings_in_eleven_patients_affected_by_mitochondrial_encephalomyopathy_with_MERRF_MELAS_overlap">Clinical and EEG findings in eleven patients affected by mitochondrial encephalomyopathy with MERRF-MELAS overlap</a><div class="ds-related-work--metadata"><a class="js-related-work-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="26015659" href="https://independent.academia.edu/SerraGigliola">Gigliola Serra</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Brain and Development, 1996</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Clinical and EEG findings in eleven patients affected by 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