A síndrome MELAS (miopatia mitocondrial, encefalopatia, acidose láctica e acidente vascular cerebral) é uma doença multissistêmica progressiva rara caracterizada por encefalomiopatia, acidose láctica e episódios semelhantes a acidente vascular cerebral. Outras características incluem endocrinopatia, doenças cardíacas, diabetes, perda auditiva e manifestações neurológicas e psiquiátricas.
Introdução
O que você precisa saber de cara
A síndrome MELAS (miopatia mitocondrial, encefalopatia, acidose láctica e acidente vascular cerebral) é uma doença multissistêmica progressiva rara caracterizada por encefalomiopatia, acidose láctica e episódios semelhantes a acidente vascular cerebral. Outras características incluem endocrinopatia, doenças cardíacas, diabetes, perda auditiva e manifestações neurológicas e psiquiátricas.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 34 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 103 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
19 genes identificados com associação a esta condição. Padrão de herança: Mitochondrial inheritance, Not applicable.
Component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex) that is part of the mitochondrial respiratory chain. The b-c1 complex mediates electron transfer from ubiquinol to cytochrome c. Contributes to the generation of a proton gradient across the mitochondrial membrane that is then used for ATP synthesis
Mitochondrion inner membrane
Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:1959619). Essential for the catalytic activity and assembly of complex I (PubMed:1959619, PubMed:26929434)
Mitochondrion inner membrane
Leber hereditary optic neuropathy
A maternally inherited form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. The disorder shows incomplete penetrance and male predominance. Cardiac conduction defects and neurological defects have also been described in some LHON patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes.
Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:14595656, PubMed:8644732). Essential for the catalytic activity and assembly of complex I (PubMed:14595656, PubMed:8644732)
Mitochondrion inner membrane
Leber hereditary optic neuropathy
A maternally inherited form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. The disorder shows incomplete penetrance and male predominance. Cardiac conduction defects and neurological defects have also been described in some LHON patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes.
Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over t
Mitochondrion inner membrane
Mitochondrial complex IV deficiency
A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to severe multisystem disease affecting several tissues and organs. Features include hypertrophic cardiomyopathy, hepatomegaly and liver dysfunction, hypotonia, muscle weakness, exercise intolerance, developmental delay, delayed motor development and intellectual disability. Some affected individuals manifest a fatal hypertrophic cardiomyopathy resulting in neonatal death. A subset of patients manifest Leigh syndrome.
Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over t
Mitochondrion inner membrane
Leber hereditary optic neuropathy
A maternally inherited form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. The disorder shows incomplete penetrance and male predominance. Cardiac conduction defects and neurological defects have also been described in some LHON patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes.
Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:15250827, PubMed:8344246, PubMed:8644732). Essential for the catalytic activity and assembly of complex I (PubMed:15250827, PubMed:8344246, PubMed:8644732)
Mitochondrion inner membrane
Leber hereditary optic neuropathy
A maternally inherited form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. The disorder shows incomplete penetrance and male predominance. Cardiac conduction defects and neurological defects have also been described in some LHON patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes.
Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:15250827). Essential for the catalytic activity and assembly of complex I (PubMed:15250827)
Mitochondrion inner membrane
Leber hereditary optic neuropathy
A maternally inherited form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. The disorder shows incomplete penetrance and male predominance. Cardiac conduction defects and neurological defects have also been described in some LHON patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes.
Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over t
Mitochondrion inner membrane
Leber hereditary optic neuropathy
A maternally inherited form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. The disorder shows incomplete penetrance and male predominance. Cardiac conduction defects and neurological defects have also been described in some LHON patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes.
Variantes genéticas (ClinVar)
91 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 485 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
68 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — MELAS
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41 ensaios clínicos encontrados, 10 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 1.120
EEG, clinical, and MRI features of status epilepticus associated with mitochondrial diseases.
This study aimed to identify specific EEG features of status epilepticus (SE) in patients with mitochondrial diseases and correlate them with clinical and neuroimaging findings. Clinical, EEG, and brain MRI data from adult patients with mitochondrial-related SE treated at Pitié-Salpêtrière hospital between 2010 and 2021 were reviewed. Thirteen patients were included, with MELAS (n = 5), POLG (n = 3), MERRF (n = 2), COQ8A (n = 2), and MT-ND1 variant (n = 1). One patient had two distinct SE episodes, totaling 14 episodes. Three main EEG patterns were identified: Type 1 (rhythmic sequences with definite evolution, n = 6), Type 2 (Lateralized Periodic Discharges with plus-modifiers (LPDs-plus) and clinical ictal manifestations, n = 12), and Type 3 (LPD-plus evolving into rhythmic activities, n = 11). MRI findings revealed FLAIR hyperintensities indicative of stroke-like lesions in 12 patients (onset: 4-28 days). In three cases, initial MRI was normal, with delayed hyperintensities (5-35 days). In 11/12 cases, stroke-like lesions were confirmed using perfusion or ASL. The localization of these lesions corresponded to electroclinical presentation of SE in most cases. In two patients, the spatial distribution of FLAIR hyperintensities did not align with EEG findings. Evolution of EEG patterns was seen during SE in 12 out of 14 episodes: Type 1 to Type 2 (n = 3), Type 2 to Type 3 (n = 6), and Type 1 to Type 2, then Type 3 (n = 3). SE is a severe complication of mitochondrial diseases. Three main EEG patterns were identified across episodes. Correlation with MRI suggests two mechanisms: (i) neuronal dysfunction generate rhythmic SE patterns that subsequently induce stroke-like lesions, due to increased local energy demands, and (ii) in more severe cases, acute bioenergetic failure and stroke-like lesions may directly trigger a specific EEG pattern, prolonging SE duration.
A novel tRNASer(AGY) 12244G > a variant impairs mitochondrial function and presents with classical MELAS phenotype.
Mitochondrial disorders are a group of heterogeneous diseases marked by deficiencies in oxidative phosphorylation (OXPHOS). A common subtype, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes [SLEs]), is primarily linked to variants in mitochondrial transfer RNA (mt-tRNA) genes, yet the molecular mechanisms underlying many of these variants remain poorly understood. We performed a comprehensive assessment of a 14-year-old male patient, including clinical evaluation, genetic testing, histopathology, and functional biochemical analyses of muscle tissue. A systematic literature review was conducted to compare previously reported MT-TS2 variants and their associated phenotypes. We identified a rare m.12244G > A variant in the tRNASer(AGY) gene associated with classical MELAS phenotype. Functional analysis demonstrated impaired mitochondrial translation and OXPHOS dysfunction. Histological findings revealed COX-negative and ragged red fibers, while western blotting indicated downregulation of key mitochondrial proteins. Literature review showed that MT-TS2 variants are associated with variable phenotypes including encephalopathy, myopathy, deafness, diabetes, and retinopathy. Our study provides the first experimental validation of the pathogenicity of the m.12244G > A variant, confirming its deleterious impact on mitochondrial function. This finding expands the genotype spectrum of MELAS and highlights the importance of functional validation for rare mtDNA variants.
Neuronal intranuclear inclusion disease: a diagnostic pitfall for MELAS.
Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disease characterized by eosinophilic hyaluronan inclusions in the nervous system and internal organs. Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) is the most common neurological mitochondrial disease involving multiple organs. The complex and overlapping clinical manifestations of both diseases pose a significant risk for misdiagnosis. We present a case of NIID that closely mimicked the phenotype of MELAS. A 60-year-old Chinese man presented with recurrent headaches and cognitive impairment. Upon the first clinical presentation, brain magnetic resonance imaging (MRI) revealed multiple lacunar infarction foci. During the second presentation, the cranial MRI indicated lesions in the left occipital and parietal cortex. Cerebrospinal fluid (CSF) analysis ruled out common infectious, autoimmune, and paraneoplastic etiologies. Screening for Alzheimer’s disease (AD) biomarkers was also unremarkable. Muscle biopsy pathology revealed ragged-red fibers (RRFs), a finding consistent with MELAS. Based on the muscle biopsy findings, a provisional diagnosis of MELAS was made, and the patient received a course of intravenous arginine therapy. However, genetic testing for the NOTCH2NLC gene via capillary electrophoresis identified a heterozygous CGG repeat expansion (15 and 97 repeats), confirming the diagnosis of NIID. This case highlights the diagnostic challenge in distinguishing NIID from MELAS and underscores the necessity of genetic testing for NOTCH2NLC in patients with compatible phenotypes, even in the presence of MELAS-suggestive features like RRFs.
Loss of Myofilaments in Gastrointestinal Smooth Muscle: A Novel Pathological Finding in MELAS-Associated Chronic Intestinal Pseudo-Obstruction.
Chronic intestinal pseudo-obstruction (CIPO) occurs in up to 40% of patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). While enteric nervous system abnormalities have been documented, 15%-38% of CIPO cases show normal histology, suggesting alternative pathogenic mechanisms. We aimed to investigate smooth muscle pathology in MELAS-associated CIPO. Comprehensive pathological examination including light and electron microscopy was performed on autopsy material from a 52-year-old male with MELAS (m.3243A > G mutation) and recurrent intestinal obstruction symptoms. Gastrointestinal tissue from the entire digestive tract was analyzed and compared with age-matched control tissue. Histological examination revealed widespread vacuolization and pallor of gastrointestinal smooth muscle throughout the digestive tract (esophagus, stomach, duodenum, and colon). Electron microscopy demonstrated abundant abnormal mitochondria in smooth muscle cells and, notably, marked loss of myofilaments in the colonic muscle. The ultrastructural preservation was limited by postmortem changes (autolysis, occurring approximately 4 h after death) and the re-embedding technique from formalin-fixed paraffin-embedded tissue; however, the striking difference was evident compared to age-matched controls. Similar abnormalities were observed in the Auerbach plexus. This represents the first report of myofilament loss in MELAS-associated CIPO, suggesting that mitochondrial dysfunction may directly impair smooth muscle contractile apparatus beyond previously described neuronal abnormalities. These findings provide novel insights into CIPO pathogenesis and may inform therapeutic strategies emphasizing early enteral nutrition interventions that bypass affected gastrointestinal segments.
Super-Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review.
Super-Refractory Status Epilepticus (SRSE) is a rare, life-threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease-causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms. We describe the detailed clinical, neurophysiological, neuroimaging, and molecular findings of a 19-year-old female with SRSE associated with compound heterozygous variants in OPA1, a key gene for mitochondrial inner membrane fusion and cristae maintenance. In addition, a literature review was performed, identifying 16 previously published cases reporting one or both of the variants observed in the present case. Despite a longstanding history of generalized hypotonia, celiac disease, optic atrophy, cerebellar ataxia, and progressive motor decline, the proband had no prior history of seizures. She developed super-refractory status epilepticus with occipital-predominant epileptiform activity and MRI showing transient diffusion restriction in the right parieto-occipital cortex and cerebellum. Genetic testing revealed a frameshift variant (p.Val903GlyfsTer3) and a missense variant (p.Ile382Met) in the GTPase domain, known to impair mitochondrial fusion. Unlike POLG or MELAS-associated seizures, typically driven by severe mtDNA depletion and respiratory chain failure, OPA1 dysfunction usually spares mtDNA copy number but disrupts mitochondrial dynamics. In severe biallelic loss-of-function, a "second-hit" stressor may trigger a diffuse energy crisis and catastrophic seizures. This case of mitochondrial SRSE in a patient with no known infectious, autoimmune, or structural cause emphasizes the possible role of genetic background and mitochondrial disorders in the development of the disease. This case highlights a rare mitochondrial subtype of RSE, emphasizing the need to consider energy metabolism defects in unexplained refractory status epilepticus.
Publicações recentes
COQ8A-related Primary Coenzyme Q10 Deficiency Mimicking Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Syndrome: A Pediatric Case Report and Review of Mitochondrial Mimics.
💬 OpiniãoWhether Metformin Causes Lactic Acidosis in m.3243A>G Carriers Depends on Several Factors.
From confusion to diagnosis: a rare case of melas syndrome in a patient with familial consanguinity, recurrent stroke-like episodes, and concurrent FSGS.
🥉 Relato de casoMERRF/MELAS overlap syndrome mimicking paradoxical cerebral embolism due to patent foramen ovale.
📚 EuropePMC1.289 artigos no totalmostrando 196
Sleep performance in MELAS is related not only to the syndrome, but also to several other endogenous and exogenous determinants.
Sleep & breathing = Schlaf & AtmungIntegrated molecular and clinical profiling of primary mitochondrial oxidative phosphorylation disorders in an Indian cohort: Insights from genetics, neuroimaging, and machine learning.
MitochondrionThe Loss and Dysfunction of Smooth Muscle Cells in MELAS Are Not the Only Cause for Gastrointestinal Dysmotility.
Neurogastroenterology and motilityMELAS syndrome complicated by anti-GFAP autoantibody positivity: a case report and literature review.
BMC neurologyOlfactory Bulb Volume Reflects Olfactory Dysfunction and Network Organization: Insights From the Population-Based Rhineland Study.
International forum of allergy & rhinologyProgressive Myopathy and Respiratory Failure in a 7-Year-Old Boy With m.3251A>G MT-TL1 Mutation.
Journal of clinical neuromuscular diseaseReview Article: Overview of Clinical Genetics of Diabetes Mellitus.
GenesEEG, clinical, and MRI features of status epilepticus associated with mitochondrial diseases.
Journal of neurologyMigratory vasodilatation of cerebral arteries in MELAS episodes: a case report and literature review.
Frontiers in immunology4,5-dihydroxyhexanoic acid is a robust circulating and urine marker of mitochondrial disease and its severity.
bioRxiv : the preprint server for biologyA novel tRNASer(AGY) 12244G > a variant impairs mitochondrial function and presents with classical MELAS phenotype.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyNeuronal intranuclear inclusion disease: a diagnostic pitfall for MELAS.
BMC neurologyDysregulated iron homeostasis Drives mitochondrial Injury and ferroptosis susceptibility in MELAS fibroblasts.
MitochondrionMELAS Syndrome Presenting with Hypertrophic Cardiomyopathy and Advanced Heart Failure: A Multisystem Diagnostic Challenge.
Journal of clinical medicineLoss of Myofilaments in Gastrointestinal Smooth Muscle: A Novel Pathological Finding in MELAS-Associated Chronic Intestinal Pseudo-Obstruction.
Neurogastroenterology and motilitySuper-Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review.
Annals of clinical and translational neurologyMultidimensional MRI is only one piece of the puzzle in the diagnosis of stroke-like episodes in MELAS.
Quantitative imaging in medicine and surgeryDynamic functional connectivity changes in the triple networks in patients with mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes.
Quantitative imaging in medicine and surgeryCase Report: Simultaneous pancreas-kidney transplantation in MELAS: first reported case with 5-year follow-up.
Frontiers in transplantationA case of recurrent cerebellitis leading to the diagnosis of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS).
Rinsho shinkeigaku = Clinical neurologyBefore diagnosing immunological cerebellitis in an m.3243A>G carrier, a cerebellar stroke-like lesion should be ruled out.
Rinsho shinkeigaku = Clinical neurologySuppression of interferon signaling via small-molecule modulation of TFAM.
eLifeFahr Syndrome, Hypoparathyroidism and Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-Like Episodes (MELAS) Syndrome.
AACE endocrinology and diabetesBiomarking MELAS with neurofilament light chain and circulating cell free mitochondrial DNA.
Molecular genetics and metabolismA case of delayed acute intestinal pseudo-obstruction after MELAS crisis in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes.
Frontiers in medicineTaurine intake ameliorates lactic acidosis and hyperferritinemia occurring after mRNA SARS-CoV-2 vaccination in a patient with β-thalassemia trait: a case report and review of literature.
Journal of medical case reportsAversive behavioural responses of killer whales to sounds of long-finned pilot whales.
Scientific reportsTranscriptional activation by MNRR1 is effected by recruiting p300 and can be induced by minimal peptides.
MitochondrionMitochondrial Myopathy, Lactic Acidosis, and Stroke-Like Episodes Combined with Diabetes: A Case Report.
Endocrine, metabolic & immune disorders drug targetsSociety for Cardiovascular Magnetic Resonance 2024 Cases of SCMR Case Series.
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GastroenterologyDescriptions of three hundred new species of Hesperiidae (Lepidoptera: Papilionoidea).
Insecta mundiAssessing the impact of ship emissions on the atmospheric chemical composition in the Eastern Mediterranean and the Piraeus port (Greece).
Scientific reportsThe symbiotic Wolbachia in Anopheles and its role in reducing the transmission of Plasmodium: updates and prospects.
Archives of microbiologyLow-Frequency Photoparoxysmal Responses in a Patient With MELAS.
Revista de neurologiaAltered gut microbiome function in ADHD: More Prevotella, less vitamin B12 biosynthesis, and beneficial modulation by synbiotic treatment.
Brain, behavior, and immunityApproach to the Patient: Mitochondrial Diabetes: Contemporary Cases and a Precision Medicine Approach.
The Journal of clinical endocrinology and metabolismAltered connectome gradient and its association with gene expression profiles in MELAS patients with stroke-like episodes.
AJNR. American journal of neuroradiologyMitochondrial tRNA-Derived Diseases.
International journal of molecular sciencesEnvironmental DNA as a Tool for the Preliminary Assessment of Vertebrate Biodiversity: A Case Study from Sicilian Freshwater Ecosystems.
BiologyMaternal lineage diversity and health-related haplogroups in the Gilgiti and Kohistani populations of northern Pakistan.
BMC genomicsEpisodic encephalopathy in NOTCH2NLC-related neuronal intranuclear inclusion disease: Clinical spectrum and a proposed classification framework.
Journal of the neurological sciencesSequential development of three syndromes in a patient with m.3243A>G mutation: a case report.
Frontiers of medicineProfiles of paediatric patients experiencing stroke-like episodes associated with mitochondrial disease.
Frontiers in neurologyMELAS should only be diagnosed if the Hirano or Japanese criteria are met.
Radiology case reportsDeep breath out: molecular survey of selected pathogens in blow and skin biopsies from North Atlantic cetaceans.
BMC veterinary researchCounseling and Prognostic Challenges in Survivorship and Mortality in Primary Mitochondrial Disease: Reshaping a Once Bleak Landscape.
Pediatric neurologyClinical insights into mitochondrial retinopathy: A case report on m.3243A>G mutation and macular dystrophy.
Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological SocietyMitochondrial DNA A3243G variant: Current perspectives and clinical implications.
Intractable & rare diseases researchFatal Methaemoglobin Intoxication Following Ketamine Infusion in a Depressed MELAS Patient: A Possible Association?
Case reports in critical careHuman Breast Milk miRNAs: Investigation of Association Between Breastfeeding Children and Maternal Obesity in Obesity Development in Offspring.
GenesThe daily rhythms of temperature preference are conserved in nocturnal and blind fish.
Journal of thermal biologyMitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes: A Masquerader of Young-onset Stroke.
The Journal of the Association of Physicians of IndiaMonitoring the complexity and dynamics of mitochondrial translation.
Molecular cellAtypical clinical manifestation of MT-TL1 mutation in 6 months old patient.
Acta neurologica BelgicaMigraine in monogenic disorders: Shedding light on new therapeutic targets.
Cephalalgia : an international journal of headacheModeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes.
Journal of visualized experiments : JoVESigns, symptoms, and health-related quality of life in MELAS: measuring what's important from the patient and clinician perspectives.
Journal of patient-reported outcomesClinical characteristics and hearing impairment in carriers of the m.3243 A > G variant.
Journal of human geneticsRetinopathy associated with MELAS syndrome. A case report.
Archivos de la Sociedad Espanola de OftalmologiaMultiparametric MRI detection of cerebral metabolism: a tool for early differentiation between MELAS and ischemic cerebral infarction.
Quantitative imaging in medicine and surgeryFrom stroke workup to mitochondrial disease: A case report of MELAS.
Radiology case reportsPersonalized Anesthesia Strategies for Cochlear Implantation: Insights on Local Anesthesia From a Single-institution Experience.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and NeurotologyDynamic reconfiguration and transition of whole-brain networks in patients with MELAS revealed by a hidden Markov model.
Frontiers in neurologySafe Use of Metformin in Mitochondrial Diabetes in Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes: Insights From a Patient With m.3243A>G Mutation.
AACE endocrinology and diabetesOutcomes misaligned in mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS): implications for trial design.
Brain communicationsGenome-wide association study meta-analysis uncovers novel genetic variants associated with olfactory dysfunction.
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Frontiers in pediatricsAutosomal recessive Alport syndrome should be diagnosed in an m.3243A>G carrier only if a pathogenic COL4A3 variant has been detected.
Internal medicine (Tokyo, Japan)Retinal multimodal-imaging and functional tests in a mitochondrial disease with focal and segmental glomerulosclerosis.
International journal of ophthalmologyNeuroimaging in Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes (MELAS): Authors' Reply.
Indian journal of pediatricsEpigenetic Profiling of Cell-Free DNA in Cerebrospinal Fluid: A Novel Biomarker Approach for Metabolic Brain Diseases.
Life (Basel, Switzerland)Comments on: "Stroke-Like Episode, Aphasia, and Hearing Loss in MELAS".
Journal of clinical neurology (Seoul, Korea)Re: Comments on "Stroke-Like Episode, Aphasia, and Hearing Loss in MELAS".
Journal of clinical neurology (Seoul, Korea)Effect of Cilostazol in the Expression of Biomarkers and Neurological Outcome Following Experimentally Induced Cerebrovascular Accident-Experimental Protocol.
Neurology internationalNeuroimaging in Mitochondrial Encephalomyopathy with Lactic Acidosis with Stroke-Like Episodes (MELAS): Correspondence.
Indian journal of pediatricsDiagnosing Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS) Syndrome in a Young Adult Female Patient With Seizures and Lactic Acidosis.
CureusA review of the link between the lactate-GPR81 axis and mitochondrial angiopathy in MELAS based on imaging characteristics.
Journal of neurologyMitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS) Patients with m.3243A > G have High Prevalence of Wolff-Parkinson-White Syndrome.
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Frontiers in pharmacologySevere clinical manifestation of mitochondrial disease due to the m.3243A>T variant: a case report of early-onset, multi-organ involvement and premature death.
Journal of rare diseases (Berlin, Germany)Zagociguat prevented stressor-induced neuromuscular dysfunction, improved mitochondrial physiology, and increased exercise capacity in diverse mitochondrial respiratory chain disease zebrafish models.
Frontiers in pharmacologyMercury exposure of six Greenland societies from toothed whale harvest over three decades spanning 1993-2020.
Environmental researchHealth-Related Education for New Immigrants to Prevent Chronic Diseases: A Systematic Review.
Journal of immigrant and minority healthThe spectrum of ophthalmologic abnormalities in MELAS is broader than expected.
Archivos de la Sociedad Espanola de OftalmologiaNoninvasive Assessments of Mitochondrial Capacity in People with Mitochondrial Myopathies.
Muscles (Basel, Switzerland)Clinical features, disease burden and impact on quality of life in participants with mitochondrial encephalomyopathy.
Frontiers in neurologyCognitive impairment profile in patients with the m.3243A> G variant in mitochondrial DNA.
BMC neurologyPhosphodiesterase type 5 inhibition as a therapeutic strategy in primary mitochondrial disease: Evidence from patient fibroblasts and clinical observations.
Molecular genetics and metabolismHypoparathyroidism in a Child with MELAS Syndrome: A Case Report of Severe Lactic Acidosis and Symmetrical Bilateral Basal Ganglia Calcification.
International journal of endocrinology and metabolismPseudohypoxia-Stabilized HIF2α Transcriptionally Inhibits MNRR1, a Druggable Target in MELAS.
Cells[A case of recurrent cerebellitis leading to the diagnosis of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)].
Rinsho shinkeigaku = Clinical neurologyAnesthetic Management With Remimazolam for Adolescent Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-like Episodes (MELAS): A Case Report.
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CureusProgressive encephalopathy in m.3243A > G/MT-TL1 mutation carriers: a quantitative EEG analysis.
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Internal medicine (Tokyo, Japan)Genome-wide association meta-analysis of human olfactory identification discovers sex-specific and sex-differential genetic variants.
Nature communicationsNeuroimaging in Mitochondrial Encephalomyopathy with Lactic Acidosis with Stroke-Like Episodes (MELAS).
Indian journal of pediatricsPsychiatric manifestations in a patient with a pathogenic variant in the MT-TL1 gene associated with MELAS.
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Journal of neuromuscular diseasesThe m.3243A>G variant affects not only islet, hair, or retinal ganglion cells, but all cells.
GMS ophthalmology casesThe m.3290T > C variant might be a protective factor against the pathogenic m.3243 A > G variant: a case study.
Orphanet journal of rare diseasesAcute Management of Neurological Events in Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS) Syndrome: A Case Report.
CureusOpen-label pilot study using hydroxytyrosol as dietary supplements in patients with mitochondrial diseases.
Orphanet journal of rare diseasesIschemic Stroke After Cochlear Implantation in a Patient With an Undiagnosed Mitochondrial Disorder.
CureusCircRNA hypomethylation in the human amygdala implicates FKBP5 in alcohol use disorder.
bioRxiv : the preprint server for biologyDelineating the mechanisms of cerebellar degeneration in paediatric and adult primary mitochondrial disease.
Acta neuropathologicaEnergy-Dependent Changes in Ion Mobility Peak Width Reveal Stability Shifts in Ribonucleic Acid Stem Loops.
Journal of the American Society for Mass SpectrometryExploring the Phenotypic Heterogeneity and Bioenergetic Profile of the m.13513G>A mtDNA Substitution: A Heteroplasmy Perspective.
International journal of molecular sciencesIn vitro modelling of the neuropathophysiological features of mitochondrial epilepsy.
SeizureUnraveling Ribonucleic Acid Unfolding: A Quantitative Comparison of Solution and Gas-Phase Unfolding.
Analytical chemistryEndocrine manifestations and long-term outcomes of patients with mitochondrial diseases.
Orphanet journal of rare diseasesGenetic migraine disorders and the response to calcitonin gene-related peptide antagonist treatment.
HeadacheDiplostomum-Induced Sac Formation in Lenses of Ameiurus Bullheads: A Host Defence Response?
Journal of fish diseasesStroke-Like Episode, Aphasia, and Hearing Loss in MELAS.
Journal of clinical neurology (Seoul, Korea)Crossed Cerebellar Diaschisis in a Patient with MELAS Syndrome: A Case Report.
Cerebellum (London, England)The copper ionophore disulfiram improves mitochondrial function in various yeast and human cellular models of mitochondrial diseases.
Human molecular geneticsInteractions Between Killer Whales (Orcinus orca) and Neonate Long-Finned Pilot Whales (Globicephala melas) off South Iceland.
Ecology and evolutionThe genome sequence of long-finned pilot whale, Globicephala melas (Traill, 1809).
Wellcome open researchOptimization of mtDNA-targeted platinum TALENs for bi-directionally modifying heteroplasmy levels in patient-derived m.3243A>G-iPSCs.
Molecular therapy. Nucleic acidsTrio Exome Sequencing in VACTERL Association.
Kidney international reportsComparative modeling approaches for predicting Olea and Quercus pollen seasons in Thessaloniki, Greece.
Scientific reportsEfficacy and Safety of Photobiomodulation in MELAS: Protocol for a Series of N-of-1 Trials.
Journal of clinical medicineA rare case of MELAS syndrome caused by mitochondrial DNA m.3256C>T mutation in China.
World journal of emergency medicineClinical characteristics and long-term prognosis of 150 children with MELAS syndrome in China.
Journal of neurologyA rare de novo mutation, m.1630A>G, in the mitochondrial tRNAVal (MT-TV) gene in a child with epilepsy: case report and review of the literature.
Translational pediatricsMolecular evolution of gustatory receptors in the Anopheles gambiae complex.
BMC ecology and evolutionSegmental and Focal Glomerulosclerosis Secondary to MELAS Syndrome and Long-Term Outcomes After Kidney Transplant: Case Report and Literature Review.
Experimental and clinical transplantation : official journal of the Middle East Society for Organ TransplantationPHEMI-Phenylbutyrate in Patients With Lactic Acidosis: A Pilot, Single Arm, Phase I/II, Open-Label Trial.
Clinical therapeuticsMetabolic remodeling in hiPSC-derived myofibers carrying the m.3243A>G mutation.
Stem cell reportsConcentrations of persistent organic pollutants in long-finned pilot whales (Globicephala melas) sampled in a mass stranding event (MSE) on the Irish coast.
Marine pollution bulletinGenetic liability for anxiety and treatment response to the monoamine stabilizer OSU6162 in alcohol dependence: a retrospective secondary analysis.
Pharmacological reports : PRSUCCOR 10 years: a decade's perspective on radical hysterectomy outcomes in cervical cancer.
International journal of gynecological cancer : official journal of the International Gynecological Cancer SocietyMitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) with high-frequency oscillations on scalp EEG: A case report.
Epilepsy & behavior reportsStress, Anxiety and Depressive Symptoms, Burnout and Insomnia Among Greek Nurses One Year After the End of the Pandemic: A Moderated Chain Mediation Model.
Journal of clinical medicineComprehensive predictors of drug-resistant epilepsy in MELAS: clinical, EEG, imaging, and biochemical factors.
BMC neurologyCardiac manifestations in adult MELAS syndrome (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome)- a cross-sectional study.
Orphanet journal of rare diseasesCauses of phenotypic heterogeneity in monozygotic MELAS twins.
Clinical neurology and neurosurgeryA Retrospective Study Using a Novel Body-Shift Implant Design with a Novel Alloplastic Particulate Grafting Material in Immediate Extraction Sockets.
European journal of dentistrySpatial and Temporal Distribution of White Matter Lesions in NOTCH2NLC-Related Neuronal Intranuclear Inclusion Disease.
NeurologySerum chitotriosidase-1 (CHIT1) as candidate biomarker for mitochondriopathies.
Journal of neurologySerological Diagnosis of Brucella Infection in Cetaceans by Rapid Serum Agglutination Test and Competitive ELISA with Brucella abortus and Brucella ceti as Antigens.
Pathogens (Basel, Switzerland)Lateralized periodic discharges and photic sensitivity in adult onset MELAS syndrome in twin sisters.
Clinical neurology and neurosurgeryIncidental finding of MELAS in a young woman with decompensated heart failure and end stage kidney disease: a case report.
European heart journal. Case reportsRadiologic Findings in a Patient With Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-Like Episodes Syndrome: A Case Report.
CureusAliens Among Us: Sensitivity of the Invasive Alien Fish Black Bullhead Ameiurus melas as a Bioindicator of Pollution and Its Safety for Human Consumption.
ToxicsDiagnosis and Management of Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes Syndrome.
BiomoleculesPerfusion and Electrophysiological Changes in MELAS.
Annals of neurologyMultisystem clinicopathologic and genetic analysis of MELAS.
Orphanet journal of rare diseasesMitochondrial tRNA modifications: functions, diseases caused by their loss, and treatment strategies.
RNA (New York, N.Y.)Long-term prognostic factors and outcomes in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes: a clinical and biochemical marker analysis.
Frontiers in neurology"Strokes" in MELAS are Actually Stroke-like Episodes Due To Metabolic Pathophysiology.
Neurology IndiaMolecular Detection of a Novel Poxvirus in Black Bullhead (Ameiurus melas): Emerging Pathogens in a Natural Freshwater in Hungary?
Journal of fish diseasesNew Insights on the Diversity, Ecology and Genetic Population Structure of Anisakis spp. from Fish and Cetacean Hosts from Northeast Atlantic Waters.
Animals : an open access journal from MDPIInhibition of the PI3K-AKT-MTORC1 axis reduces the burden of the m.3243A>G mtDNA mutation by promoting mitophagy and improving mitochondrial function.
AutophagyDisease registries and rare disorders: The virtuous example of mitochondrial medicine.
Experimental neurologyLNC-ing Genetics in Mitochondrial Disease.
Non-coding RNAUnveiling the Mitochondrial Mystery: A Case of Mitochondrial Encephalopathy With Lactic Acidosis and Stroke-Like Episodes.
CureusTo prevent sudden death in m.3243A>G carriers, comprehensive neurologic, cardiac, and pulmological examinations are required.
Cardiology in the youngFabry Disease: A Rare Mutation With Common Clinical Presentation.
CureusEffective Management of Chronic Intestinal Pseudo-Obstruction in MELAS Using Acotiamide: A Case Report.
Case reports in neurologyNeuronal Intranuclear Inclusion Disease Presenting with Acute-Onset Dementia and Cortical Edema: A Case Report.
Frontiers in neurologyA first vocal repertoire characterization of long-finned pilot whales (Globicephala melas) in the Mediterranean Sea: a machine learning approach.
Royal Society open sciencePhase 2b program with sonlicromanol in patients with mitochondrial disease due to m.3243A>G mutation.
Brain : a journal of neurologyA novel m.5906G > a variant in MT-CO1 causes MELAS/Leigh overlap syndrome.
Molecular genetics and genomics : MGGEvaluation of Two Particle Number (PN) Counters with Different Test Protocols for the Periodic Technical Inspection (PTI) of Gasoline Vehicles.
Sensors (Basel, Switzerland)MELAS Presenting as Bilateral Symmetric Occipital and Temporal Cortices Lesions: A Case Report and Literature Review.
The neurologistTargeted nanopore sequencing using the Flongle device to identify mitochondrial DNA variants.
Scientific reportsCardiac and Renal Transplantation in Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Symptoms: Anesthetic Challenges and Considerations.
Journal of cardiothoracic and vascular anesthesiaPost-transcriptional methylation of mitochondrial-tRNA differentially contributes to mitochondrial pathology.
Nature communications[Hyperferritinemia - investigation, diagnosis and treatment].
LakartidningenMultifocal vitelliform lesions associated with mitochondrial retinopathy.
American journal of ophthalmology case reportsMoyamoya syndrome secondary to MELAS syndrome in a child: A case report and literature revue.
Radiology case reports[Taurine for Mitochondrial Diseases].
Brain and nerve = Shinkei kenkyu no shinpoStroke-like episodes in patients with adult-onset neuronal intranuclear inclusion disease and patients with late-onset MELAS: A comparative study.
Annals of clinical and translational neurologySuccessful Simultaneous Heart-Kidney Transplant in a Patient With MT-TL1 MELAS Cardiomyopathy.
JACC. Case reportsA post-hoc pooled analysis to evaluate efficacy and safety of insulin glargine 300 U/mL in insulin-naïve people with type 2 diabetes with/without prior use of glucagon-like peptide-1 receptor agonist therapy.
Diabetes research and clinical practiceAnterior Cruciate Ligament Reconstruction Utilizing Double Adjustable-Loop Suspensory Fixation Devices Provides Good Clinical Outcomes in Patients under the Age of 40 Years at Two-Year Follow-Up.
Journal of clinical medicineNeurological manifestations in adult patients with the m.3243A>G variant in mitochondrial DNA.
BMJ neurology openMolecular investigation of endoparasites of marine mammals (Cetacea: Mysticeti, Odontoceti) in the Western Mediterranean.
Frontiers in veterinary scienceMolecular characterization of gliomas and glioneuronal tumors amid Noonan syndrome: cancer predisposition examined.
Frontiers in oncologyWhole genome sequence analysis of population structure and insecticide resistance markers in Anopheles melas from the Bijagós Archipelago, Guinea-Bissau.
Parasites & vectorsNovel Mitochondrial Cytopathy Causing Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-Like Episodes Syndrome and Tubulointerstitial Nephropathy.
CureusThe researcher's guide to selecting biomarkers in mental health studies.
BioEssays : news and reviews in molecular, cellular and developmental biologyMitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes with coexisting nemaline myopathy: a case report.
Journal of medical case reportsSafety and Effectiveness of Concomitant iGlarLixi and SGLT-2i Use in People with T2D During Ramadan Fasting: A SoliRam Study Sub-analysis.
Diabetes therapy : research, treatment and education of diabetes and related disordersRegulated and unregulated emissions from Euro VI Diesel and CNG heavy-duty vehicles.
Transportation research. Part D, Transport and environmentMitochondrial Variation in Anopheles gambiae and Anopheles coluzzii: Phylogeographic Legacy and Mitonuclear Associations With Metabolic Resistance to Pathogens and Insecticides.
Genome biology and evolutionBlood-derived microRNAs are related to cognitive domains in the general population.
Alzheimer's & dementia : the journal of the Alzheimer's AssociationFrailty Assessment and Its Impact on Loneliness among Older Adults Receiving Home-Based Healthcare during the COVID-19 Pandemic.
Healthcare (Basel, Switzerland)Serological Investigation for Brucella ceti in Cetaceans from the Northwestern Mediterranean Sea.
Animals : an open access journal from MDPICortical atrophy is a common phenotypic feature in MELAS patients.
Asian journal of surgeryFahr's syndrome as the initial imaging characteristics of MELAS syndrome with a possible seizure activity and cardiac arrest: a case report.
Frontiers in geneticsAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- EEG, clinical, and MRI features of status epilepticus associated with mitochondrial diseases.
- A novel tRNASer(AGY) 12244G > a variant impairs mitochondrial function and presents with classical MELAS phenotype.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology· 2026· PMID 41692888mais citado
- Neuronal intranuclear inclusion disease: a diagnostic pitfall for MELAS.
- Loss of Myofilaments in Gastrointestinal Smooth Muscle: A Novel Pathological Finding in MELAS-Associated Chronic Intestinal Pseudo-Obstruction.
- Super-Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review.
- COQ8A-related Primary Coenzyme Q10 Deficiency Mimicking Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Syndrome: A Pediatric Case Report and Review of Mitochondrial Mimics.
- Whether Metformin Causes Lactic Acidosis in m.3243A>G Carriers Depends on Several Factors.
- From confusion to diagnosis: a rare case of melas syndrome in a patient with familial consanguinity, recurrent stroke-like episodes, and concurrent FSGS.
- Response to: "The Loss and Dysfunction of Smooth Muscle Cells in MELAS Are Not the Only Cause for Gastrointestinal Dysmotility".
- MERRF/MELAS overlap syndrome mimicking paradoxical cerebral embolism due to patent foramen ovale.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:550(Orphanet)
- OMIM OMIM:540000(OMIM)
- MONDO:0010789(MONDO)
- GARD:7009(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q2666433(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
