Miopatia mitocondrial caracterizada por paralisia lentamente progressiva do levantador da pálpebra, orbicular do olho e músculos extraoculares. Fibras vermelhas irregulares e atrofia são encontradas na biópsia muscular. Podem ocorrer formas familiares e esporádicas. O início da doença geralmente ocorre na primeira ou segunda década de vida, e a doença progride lentamente até que toda a motilidade ocular seja perdida. (De Adams et al., Princípios de Neurologia, 6ª ed, p1422)
Introdução
O que você precisa saber de cara
Miopatia mitocondrial caracterizada por paralisia lentamente progressiva do levantador da pálpebra, orbicular do olho e músculos extraoculares. Fibras vermelhas irregulares e atrofia são encontradas na biópsia muscular. Podem ocorrer formas familiares e esporádicas. O início da doença geralmente ocorre na primeira ou segunda década de vida, e a doença progride lentamente até que toda a motilidade ocular seja perdida. (De Adams et al., Princípios de Neurologia, 6ª ed, p1422)
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 87 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 232 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
13 genes identificados com associação a esta condição.
Releases the supercoiling and torsional tension of DNA introduced during the DNA replication and transcription by transiently cleaving and rejoining one strand of the DNA duplex. Introduces a single-strand break via transesterification at a target site in duplex DNA. The scissile phosphodiester is attacked by the catalytic tyrosine of the enzyme, resulting in the formation of a DNA-(5'-phosphotyrosyl)-enzyme intermediate and the expulsion of a 3'-OH DNA strand. The free DNA strand then undergoes
Mitochondrion matrix
Microcephaly, growth restriction, and increased sister chromatid exchange 2
An autosomal recessive disorder characterized by intrauterine growth restriction, poor postnatal growth with short stature and microcephaly, and increased sister chromatid exchange on cell studies.
Subunit 8, of the mitochondrial membrane ATP synthase complex (F(1)F(0) ATP synthase or Complex V) that produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain (PubMed:37244256). ATP synthase complex consist of a soluble F(1) head domain - the catalytic core - and a membrane F(1) domain - the membrane proton channel (PubMed:37244256). These two domains are linked by a central stalk rotating inside
Mitochondrion membrane
Mitochondrial complex V deficiency, mitochondrial 2
A mitochondrial disorder with heterogeneous clinical manifestations including neuropathy, ataxia, hypertrophic cardiomyopathy. Hypertrophic cardiomyopathy can present with negligible to extreme hypertrophy, minimal to extensive fibrosis and myocyte disarray, absent to severe left ventricular outflow tract obstruction, and distinct septal contours/morphologies with extremely varying clinical course.
Catalytic subunit of DNA polymerase gamma solely responsible for replication of mitochondrial DNA (mtDNA). Replicates both heavy and light strands of the circular mtDNA genome using a single-stranded DNA template, RNA primers and the four deoxyribonucleoside triphosphates as substrates (PubMed:11477093, PubMed:11897778, PubMed:15917273, PubMed:19837034, PubMed:9558343). Has 5' -> 3' polymerase activity. Functionally interacts with TWNK and SSBP1 at the replication fork to form a highly processiv
MitochondrionMitochondrion matrix, mitochondrion nucleoid
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1
A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism.
Phosphorylates thymidine, deoxycytidine, and deoxyuridine in the mitochondrial matrix (PubMed:11687801, PubMed:9989599). In non-replicating cells, where cytosolic dNTP synthesis is down-regulated, mtDNA synthesis depends solely on TK2 and DGUOK (PubMed:9989599). Widely used as target of antiviral and chemotherapeutic agents (PubMed:9989599)
Mitochondrion
Mitochondrial DNA depletion syndrome 2
A disorder due to mitochondrial dysfunction characterized by childhood onset of muscle weakness associated with depletion of mtDNA in skeletal muscle. There is wide clinical variability; some patients have onset in infancy and show a rapidly progressive course with early death due to respiratory failure, whereas others have later onset of a slowly progressive myopathy.
Phosphorylates deoxyguanosine and deoxyadenosine in the mitochondrial matrix, with the highest efficiency for deoxyguanosine (PubMed:11687801, PubMed:17073823, PubMed:23043144, PubMed:8692979, PubMed:8706825). In non-replicating cells, where cytosolic dNTP synthesis is down-regulated, mtDNA synthesis depends solely on DGUOK and TK2. Phosphorylates certain nucleoside analogs (By similarity). Widely used as target of antiviral and chemotherapeutic agents
Mitochondrion
Mitochondrial DNA depletion syndrome 3
A disorder due to mitochondrial dysfunction characterized by onset in infancy of progressive liver failure, hypoglycemia, increased lactate in body fluids, and neurologic abnormalities including hypotonia, encephalopathy, peripheral neuropathy. Affected tissues show both decreased activity of the mtDNA-encoded respiratory chain complexes and mtDNA depletion.
ADP:ATP antiporter that mediates import of ADP into the mitochondrial matrix for ATP synthesis, and export of ATP out to fuel the cell (PubMed:21586654, PubMed:27693233, PubMed:23173940, PubMed:30046662). Cycles between the cytoplasmic-open state (c-state) and the matrix-open state (m-state): operates by the alternating access mechanism with a single substrate-binding site intermittently exposed to either the cytosolic (c-state) or matrix (m-state) side of the inner mitochondrial membrane (By si
Mitochondrion inner membraneMembrane
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2
A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism.
Provides the precursors necessary for DNA synthesis. Catalyzes the biosynthesis of deoxyribonucleotides from the corresponding ribonucleotides
Cytoplasm
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6
A form of progressive external ophthalmoplegia, a mitochondrial myopathy characterized by progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged red fibers are seen on muscle biopsy.
Endonuclease that specifically degrades the RNA of RNA-DNA hybrids (PubMed:10497183). Plays a role in RNA polymerase II (RNAp II) transcription termination by degrading R-loop RNA-DNA hybrid formation at G-rich pause sites located downstream of the poly(A) site and behind the elongating RNAp II (PubMed:21700224)
Cytoplasm
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
A form of progressive external ophthalmoplegia, a mitochondrial myopathy characterized by progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. PEOB2 patients manifest exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia, such as impaired gait and dysarthria. Some patients may have respiratory insufficiency.
Plays a pivotal role in cell survival by repairing damaged DNA in a p53/TP53-dependent manner. Supplies deoxyribonucleotides for DNA repair in cells arrested at G1 or G2. Contains an iron-tyrosyl free radical center required for catalysis. Forms an active ribonucleotide reductase (RNR) complex with RRM1 which is expressed both in resting and proliferating cells in response to DNA damage
CytoplasmNucleus
Mitochondrial DNA depletion syndrome 8A
A disorder due to mitochondrial dysfunction characterized by various combinations of neonatal hypotonia, neurological deterioration, respiratory distress, lactic acidosis, and renal tubulopathy.
Key enzyme involved in DNA replication and DNA repair in nucleus and mitochondrion. Involved in Okazaki fragments processing by cleaving long flaps that escape FEN1: flaps that are longer than 27 nucleotides are coated by replication protein A complex (RPA), leading to recruit DNA2 which cleaves the flap until it is too short to bind RPA and becomes a substrate for FEN1. Also involved in 5'-end resection of DNA during double-strand break (DSB) repair: recruited by BLM and mediates the cleavage o
NucleusMitochondrion
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6
A disorder characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance, and mitochondrial DNA deletions on muscle biopsy. Symptoms may appear in childhood or adulthood and show slow progression.
Accessory subunit of DNA polymerase gamma solely responsible for replication of mitochondrial DNA (mtDNA). Acts as an allosteric regulator of the holoenzyme activities. Enhances the polymerase activity and the processivity of POLG by increasing its interactions with the DNA template. Suppresses POLG exonucleolytic proofreading especially toward homopolymeric templates bearing mismatched termini. Binds to single-stranded DNA
MitochondrionMitochondrion matrix, mitochondrion nucleoid
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4
A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism.
Mitochondrial helicase involved in mtDNA replication and repair (PubMed:12975372, PubMed:15167897, PubMed:17324440, PubMed:18039713, PubMed:18971204, PubMed:25824949, PubMed:26887820, PubMed:27226550). Might have a role in mtDNA repair (PubMed:27226550). Has DNA strand separation activity needed to form a processive replication fork for leading strand synthesis which is catalyzed by the formation of a replisome complex with POLG and mtSDB (PubMed:12975372, PubMed:15167897, PubMed:18039713, PubMe
Mitochondrion matrix, mitochondrion nucleoidMitochondrion inner membrane
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3
A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism.
Variantes genéticas (ClinVar)
222 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 689 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
41 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 — Oftalmoplegia externa progressiva
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Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
Pesquisa e ensaios clínicos
7 ensaios clínicos encontrados.
Publicações mais relevantes
Exploring Outcome Measures for Mitochondrial Myopathies; Insights From a Longitudinal Study on TK2 Deficiency.
Thymidine kinase 2 deficiency (TK2d) is an ultra-rare autosomal recessive mitochondrial myopathy with variable presentations, including late-onset forms beginning after age 12. Unlike early-onset disease, the natural history of late-onset TK2d remains poorly defined. We conducted a prospective, single-centre natural history study of 11 untreated patients with late-onset TK2d over 24 months. The median age at symptom onset was 27.2 years. Clinical phenotypes included progressive myopathy (n = 7), chronic progressive external ophthalmoplegia plus (n = 2), and exercise intolerance (n = 2). Most patients (72%) required non-invasive ventilation, and 70% showed axonal polyneuropathy. All patients carried biallelic pathogenic TK2 variants, with p.Lys202del being the most common (13/22 alleles). Muscle biopsies demonstrated mitochondrial DNA depletion and multiple deletions, and muscle MRI consistently showed selective involvement of the sartorius, gracilis and gluteus maximus, whose fat fraction correlated with motor impairment. Functional assessments revealed a mean forced vital capacity of 70.4%, an NSAA score of 25.9, a six-minute walk distance of 479.5 m, and a 100-m run time of 60.5 s. Serum GDF15 levels were elevated (median 2747.5 pg/mL) and significantly correlated with motor and respiratory function. Over 2 years, patients showed measurable clinical deterioration, with declines in NSAA (-2.65 points), FVC (-9.11%), and worsening 100-meter run times (+6 s). This study provides the first prospective longitudinal characterization of late-onset TK2d and identifies clinically relevant, quantifiable outcomes that may inform future therapeutic trials targeting this underrepresented patient population. Moreover, these results are also relevant for the design of clinical trials in other mitochondrial myopathies.
Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort Study.
Twinkle, encoded by the TWNK gene, is a mitochondrial DNA helicase that unwinds the double helix of DNA during replication, playing a pivotal role in mitochondrial function. Twinkle-related disorders encompass a variety of genetic disorders characterized by mitochondrial dysfunction. Although several phenotypes have been described, the full clinical and molecular spectrum remains poorly defined. The aim of this study was to characterize the phenotypic and genotypic variability among multinational patients diagnosed with Twinkle-related disorders. A retrospective cohort study was conducted in patients with Twinkle-related disorders at several specialized centers in Italy, France, Germany, Spain, Denmark, Hungary, and the United States, establishing the Twinkle-Related Disorders International Consortium for Trial Readiness (TReDIC). Data were collected from medical records, including clinical features, age at onset, disease progression, and results from genetic testing. Phenotypic categories included infantile-onset cerebellar ataxia, parkinsonism, primary mitochondrial myopathy (PMM), multisystem involvement, asymptomatic carriers, undetermined phenotypes, and other phenotypes. All patients' diagnoses were confirmed by genetic analysis, and their genetic variants were noted. Outcomes included prevalence of phenotypes, symptom chronology, and mutational patterns. The study included a total of 189 patients (116 female), with a mean age at symptom onset of 40.3 years. At the time of analysis, 70.4% were alive. PMM was the predominant syndrome (85.2%), and most common features were progressive external ophthalmoplegia (84.7%) and skeletal myopathy (55.6%), followed by hearing loss (17.5%) and psychiatric symptoms (15.3%). Most patients (76.8%) presented with neuromuscular symptoms, with fewer showing CNS (19.6%) or multiorgan (3.6%) features at onset; by more than 8 years from onset, these proportions shifted to 54.4%, 23.3%, and 23.3%, respectively. A total of 73 TWNK variants (16 novel) were found, mostly missense, clustered in functionally critical regions. This large multinational cohort analysis advances our understanding of Twinkle-related disorders by identifying mutational hotspots with clinical relevance and illustrating the broad phenotypic spectrum and progression patterns. In the context of such rare diseases, the formation of international collaborations, such as TReDIC, can enhance our understanding and support the design of upcoming clinical trials.
RePOWER: An International, Prospective, Non-Interventional Registry of Patients With Primary Mitochondrial Myopathy.
Primary mitochondrial myopathies (PMMs), a group of genetic mitochondrial oxidative phosphorylation disorders, primarily affect skeletal muscle function. No approved treatments for PMM exist, and patient information is limited. The international RePOWER registry (NCT03048617) assessed genotypic and phenotypic relationships in PMM and identified patients for MMPOWER-3 (elamipretide Phase 3 study). RePOWER enrolled screened and ambulatory patients aged 16-80 years. With signs and/or symptoms of PMM (N = 376; 60.4% female; mean [SD] age 42.6 [14.4] years; ~75% with an mtDNA variant and ~25% with an nDNA variant). Baseline information, current symptoms, qualityoflife, and functional assessments (6-Minute Walk Test [6MWT], Triple-Timed Up-and-Go [3TUG] Test, and 5-Times Sit-to-Stand Test [5XSST]) were captured. Accredited laboratory and genetic testing methods were available to most patients. The majority of enrolled PMM patients presented with progressive external ophthalmoplegia and fatigue. US patients were observed to use more medical interventions. Compared to non-US patients, US patients did not perform as well on the 6MWT (mean 364.6 vs. 375.2 m) and 5XSST (mean 21.6 vs. 18.6 s); US patients performed better on the 3TUG test (mean 40.2 vs. 45.0 s). The RePOWER registry provided data on patients with genetically confirmed PMM, thereby improving our understanding of PMM diagnosis and treatment and the differences in global mitochondrial clinical practice.
Integrated molecular and clinical profiling of primary mitochondrial oxidative phosphorylation disorders in an Indian cohort: Insights from genetics, neuroimaging, and machine learning.
Primary mitochondrial disorders are clinically and genetically heterogeneous and remain underdiagnosed in resource-limited settings. We performed a retrospective observational study (March 2016-January 2024) at a tertiary neurology center in Eastern India to characterize the clinical, biochemical, neuroimaging, electrophysiological, and molecular features of suspected mitochondrial disease and to explore interpretable machine-learning approaches for syndromic stratification. Forty-eight patients from 42 unrelated families were classified as MELAS (n = 17), chronic progressive external ophthalmoplegia (CPEO; n = 14), Leber hereditary optic neuropathy (LHON; n = 10), or Leigh syndrome (n = 7). Mean age at presentation was 23.9 years (range: 9 months-60 years), with a slight male predominance. Neuroimaging was abnormal in 23/48 (47.9%) and showed syndrome-concordant patterns, including stroke-like cortical lesions in MELAS and symmetric basal ganglia involvement in Leigh syndrome; brain MRI was typically normal in CPEO. Elevated blood and/or cerebrospinal fluid lactate was common, and electroencephalographic abnormalities were concentrated in MELAS and Leigh syndrome. Targeted molecular testing in a subset identified pathogenic mtDNA variants consistent with phenotype, including MT-TL1 variants in MELAS, m.11778G>A in MT-ND4 in LHON, and m.8993T>G in MT-ATP6 in Leigh syndrome; no mtDNA deletions were detected in tested CPEO cases. Decision tree and random forest models highlighted clinically intuitive discriminators (e.g., visual loss, external ophthalmoplegia/ptosis, and seizure phenotype), supporting their potential role as transparent triage tools for targeted molecular evaluation. This cohort provides the first detailed characterization of mitochondrial syndromes in Eastern India and supports a pragmatic diagnostic framework integrating bedside phenotyping, targeted assays, and interpretable machine learning.
A Novel Truncating Pathogenic Variant in RRM2B in a Kurdish Family With Autosomal-Dominant Chronic Progressive External Ophthalmoplegia Plus (PEOA5).
To report a family with autosomal-dominant chronic progressive external ophthalmoplegia due to a novel truncating pathogenic variant in RRM2B and to show the challenges facing clinicians in diagnosing rare neuromuscular diseases. Four family members were examined. Muscle biopsy, mitochondrial DNA analysis, next generation sequencing, and targeted mitochondrial gene panel followed by Sanger sequencing and complementary deoxyribonucleic acid analysis were performed. A novel heterozygous RRM2B truncating variant c.968_972del p.(Phe323*) was identified. complementary deoxyribonucleic acid analysis showed expression of both RRM2B alleles. The proband was initially misdiagnosed as myasthenia gravis. Based on the phenotype and family history, chronic progressive external ophthalmoplegia was suspected and confirmed by finding of a novel RRM2B variant. The detection of another truncating pathogenic variant in exon 9 of RRM2B further supports this exon as mutation hot spot and underlines the role of the C-terminal highly conserved amino acids for the interaction of the p53R2 dimer with the R1 dimer.
Publicações recentes
Chronic Progressive External Ophthalmoplegia Associated With the m.14484T>C Leber Hereditary Optic Neuropathy Mutation.
Integrated molecular and clinical profiling of primary mitochondrial oxidative phosphorylation disorders in an Indian cohort: Insights from genetics, neuroimaging, and machine learning.
A Novel Truncating Pathogenic Variant in RRM2B in a Kurdish Family With Autosomal-Dominant Chronic Progressive External Ophthalmoplegia Plus (PEOA5).
Outcomes of kidney transplantation in three patients with single large-scale mitochondrial DNA deletion syndromes.
Exploring Outcome Measures for Mitochondrial Myopathies; Insights From a Longitudinal Study on TK2 Deficiency.
📚 EuropePMC459 artigos no totalmostrando 196
Chronic Progressive External Ophthalmoplegia Associated With the m.14484T>C Leber Hereditary Optic Neuropathy Mutation.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietyIntegrated molecular and clinical profiling of primary mitochondrial oxidative phosphorylation disorders in an Indian cohort: Insights from genetics, neuroimaging, and machine learning.
MitochondrionA Novel Truncating Pathogenic Variant in RRM2B in a Kurdish Family With Autosomal-Dominant Chronic Progressive External Ophthalmoplegia Plus (PEOA5).
Journal of clinical neuromuscular diseaseOutcomes of kidney transplantation in three patients with single large-scale mitochondrial DNA deletion syndromes.
Molecular genetics and metabolismExploring Outcome Measures for Mitochondrial Myopathies; Insights From a Longitudinal Study on TK2 Deficiency.
Journal of inherited metabolic diseaseVolumetric brain analysis and associated retinal thinning in autosomal dominant optic atrophy patients.
Neuroimage. ReportsClinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort Study.
NeurologyModel organisms in POLG-related disorders: insights from yeast to multicellular systems.
Cell death & diseaseUrinary Multi-Omics Profiling Reveals Systemic Molecular Alterations in Progressive External Ophthalmoplegia.
International journal of molecular sciencesA Scoping Review of POLG-Related Cerebellar Ataxia: Insights and Clinical Perspectives.
Tremor and other hyperkinetic movements (New York, N.Y.)A case of POLG-related mitochondrial DNA maintenance defect.
Acta neurologica BelgicaThe Neuro-Ophthalmologic Manifestations of SPG7-Associated Disease.
Journal of personalized medicinePearls and Oy-sters: Chronic Progressive External Ophthalmoplegia With Electrical Myotonia and Negative Initial Genetic Testing.
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Ophthalmic geneticsDetecting mitochondrial electron transport chain enzyme defects in low-heteroplasmy single large-scale mtDNA deletion syndromes (SLSMDSs).
Molecular genetics and metabolismOphthalmological signs and sensorimotor evaluation in mitochondrial chronic progressive external ophthalmoplegia: a multidisciplinary prospective study.
BMC ophthalmologyChronic Progressive External Ophthalmoplegia (CPEO): Rehabilitation utilizing scleral contact lenses.
American journal of ophthalmology case reportsThe First Heterozygous TWNK Nonsense Mutation Associated with Progressive External Ophthalmoplegia: Evidence for a New Piece in the Puzzle of Mitochondrial Diseases.
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Neuromuscular disorders : NMDSingle Large-Scale Mitochondrial Deletion Syndromes: Neuroimaging Phenotypes and Longitudinal Progression in Pediatric Patients.
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Journal of medical case reportsCharacterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey.
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Frontiers in cell and developmental biologyManagement of Ptosis in Kearns-Sayre Syndrome: A Case Report and Literature Review.
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Frontiers in neurologyHave one's view of the important overshadowed by the trivial: chronic progressive external ophthalmoplegia combined with unilateral facial nerve injury: a case report and literature review.
Frontiers in neurologyMyosin Myopathy Presenting as Chronic Progressive External Ophthalmoplegia.
Annals of Indian Academy of NeurologyClinical Spectrum of Biopsy Proven Mitochondrial Myopathy.
Neurology IndiaProgressive external ophthalmoplegia - A case report.
Indian journal of pathology & microbiologyHNRNPA2B1 myopathy presenting in a family with an early onset oculopharyngeal muscular dystrophy-like phenotype.
Neuromuscular disorders : NMDLiving with chronic progressive external ophthalmoplegia alongside cataract, peptic ulcer disease, diabetes and hypertension in Ghana.
Clinical case reportsThe clinical, myopathological, and genetic analysis of 155 Chinese mitochondrial ophthalmoplegia patients with mitochondrial DNA single large deletions.
Molecular genetics & genomic medicineVideographic analysis of blink dynamics in patients with chronic progressive external ophthalmoplegia, myogenic ptosis, and facial nerve palsy using smartphone camera: A comparative analysis.
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Journal of neurologySynthetic lethal mutants in Escherichia coli define pathways necessary for survival with RNase H deficiency.
Journal of bacteriologyMyopathy and Ophthalmologic Abnormalities in Association With Multiple Skeletal Muscle Mitochondrial DNA Deletions.
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Canadian journal of ophthalmology. Journal canadien d'ophtalmologiePontine stroke in a patient with Chronic Progressive External Ophthalmoplegia (CPEO): a case report.
BMC neurologyHealthcare resource utilization of patients with mitochondrial disease in an outpatient hospital setting.
Orphanet journal of rare diseasesThe Y831C Mutation of the POLG Gene in Dementia.
BiomedicinesMitochondria and the eye-manifestations of mitochondrial diseases and their management.
Eye (London, England)Eye Muscle MRI in Myasthenia Gravis and Other Neuromuscular Disorders.
Journal of neuromuscular diseasesMitochondrial Myopathy in a 21-Year-Old Man Presenting With Bilateral Lower Extremity Weakness and Swelling.
Journal of primary care & community healthMYH2-related Myopathy: Expanding the Clinical Spectrum of Chronic Progressive External Ophthalmoplegia (CPEO).
Journal of neuromuscular diseasesPhenotypic Heterogeneity of the Mitochondrial DNA Variant m.13513 G > A.
Journal of pediatric geneticsIncreased Sphingomyelin and Free Sialic Acid in Cerebrospinal Fluid of Kearns-Sayre Syndrome: New Findings Using Untargeted Metabolomics.
Pediatric neurologyIdentification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance pattern.
Journal of human genetics[One case of adult-onset dystonia presenting with chronic progressive external ophthalmoplegia].
[Zhonghua yan ke za zhi] Chinese journal of ophthalmologyProgressive external ophthalmoplegia.
Handbook of clinical neurologyMacrocytosis in Mitochondrial DNA Deletion Syndromes.
Acta haematologicaChronic mimics of myasthenia gravis: a retrospective case series.
Neuromuscular disorders : NMDKEARNS-SAYRE SYNDROME MASQUERADING AS MYASTHENIA GRAVIS.
Retinal cases & brief reportsChronic progressive external ophthalmoplegia plus syndrome due to homozygous missense variant in TOP3A gene.
Clinical geneticsChanging faces of mitochondrial disease: autosomal recessive POLG disease mimicking myasthenia gravis and progressive supranuclear palsy.
BMJ neurology open[Chronic progressive external ophthalmoplegia that could not be diagnosed by biceps muscle biopsy, but was genetically diagnosed by extraocular muscle biopsy].
Rinsho shinkeigaku = Clinical neurologyExophthalmos associated with chronic progressive external ophthalmoplegia.
Japanese journal of ophthalmologyDiagnosing myasthenia gravis using orthoptic measurements: assessing extraocular muscle fatiguability.
Journal of neurology, neurosurgery, and psychiatryKearns-Sayre syndrome case. Novel 5,9 kb mtDNA deletion.
Molecular genetics & genomic medicineA review of surgical management of progressive myogenic ptosis.
Orbit (Amsterdam, Netherlands)Clinical and imaging clues to the diagnosis and follow-up of ptosis and ophthalmoparesis.
Journal of cachexia, sarcopenia and musclePreventive migraine treatment in mitochondrial diseases: a case report of erenumab efficacy and literature review.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyCase report: A double pathogenic mutation in a patient with late-onset MELAS/PEO overlap syndrome.
Frontiers in neurologyPrimary mitochondrial myopathy: 12-month follow-up results of an Italian cohort.
Journal of neurologyStructural insight and characterization of human Twinkle helicase in mitochondrial disease.
Proceedings of the National Academy of Sciences of the United States of AmericaNovel TOP3A Variant Associated With Mitochondrial Disease: Expanding the Clinical Spectrum of Topoisomerase III Alpha-Related Diseases.
Neurology. GeneticsTWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study.
Movement disorders : official journal of the Movement Disorder SocietyHeterozygous p.Y955C mutation in DNA polymerase γ leads to alterations in bioenergetics, complex I subunit expression, and mtDNA replication.
The Journal of biological chemistryOphthalmologic school-based screening revealing Kearns-Sayre syndrome: a case report.
The Pan African medical journalCase Report: Rare Homozygous RNASEH1 Mutations Associated With Adult-Onset Mitochondrial Encephalomyopathy and Multiple Mitochondrial DNA Deletions.
Frontiers in geneticsKearns-Sayre Syndrome Minus: Two Cases of Identical Large-Scale Mitochondrial DNA Deletions with Presentations outside the Classical Triad.
Case reports in geneticsKearns-Sayre syndrome with rare imaging finding of SLC25A4 Mutation.
Neurosciences (Riyadh, Saudi Arabia)External Ophthalmoplegia and Brainstem White Matter Lesions: Presentation of Myotonic Dystrophy Type 1.
The neurologistFrontalis Suspension in Muscular Dystrophy: 16-years Follow-up.
Plastic and reconstructive surgery. Global openNeuropathic Pain as Main Manifestation of POLG-Related Disease: A Case Report.
Frontiers in neurologyBiallelic Variants in ENDOG Associated with Mitochondrial Myopathy and Multiple mtDNA Deletions.
CellsComplement C1q Binding Protein (C1QBP): Physiological Functions, Mutation-Associated Mitochondrial Cardiomyopathy and Current Disease Models.
Frontiers in cardiovascular medicineNovel and recurrent nuclear gene variations in a cohort of Chinese progressive external ophthalmoplegia patients with multiple mtDNA deletions.
Molecular genetics & genomic medicineA retrospective cohort study exploring the association between different mitochondrial diseases and hearing loss.
Molecular genetics and metabolismAtheromatosis of the Scalp: A Novel Feature of Chronic Progressive External Ophthalmoplegia Plus Due to a Single Mitochondrial DNA Deletion.
CureusKearns-Sayre syndrome with a novel large-scale deletion: a case report.
BMC ophthalmologyClinical, Histological, and Genetic Features of 25 Patients with Autosomal Dominant Progressive External Ophthalmoplegia (ad-PEO)/PEO-Plus Due to TWNK Mutations.
Journal of clinical medicineProgressive External Ophthalmoplegia Diagnosed in the Glaucoma Clinic: The Importance of a Complete Clinical Examination.
Clinical optometryClinical and molecular spectrum associated with Polymerase-γ related disorders.
Journal of child neurologyThe Phenotypic Spectrum of Progressive External Ophthalmoplegia Plus is Broader than Anticipated.
Neurology IndiaKearns Sayre syndrome: a rare etiology of complete atrioventricular block in children (case report).
The Pan African medical journalShould Patients with Kearns-Sayre Syndrome and Corneal Endothelial Failure Be Genotyped for a TCF4 Trinucleotide Repeat, Commonly Associated with Fuchs Endothelial Corneal Dystrophy?
GenesPhenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study.
Journal of medical geneticsSurgical Outcomes of Transposition Surgery for the Correction of Large-Angle Strabismus.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietyWhole-Exome Sequencing Identifies a Novel POLG Frameshift Variant in an Adult Patient Presenting with Progressive External Ophthalmoplegia and Mitochondrial DNA Depletion.
Case reports in geneticsMulti-Omics Approach to Mitochondrial DNA Damage in Human Muscle Fibers.
International journal of molecular sciencesWhole exome sequencing reveals a homozygous C1QBP deletion as the cause of progressive external ophthalmoplegia and multiple mtDNA deletions.
Neuromuscular disorders : NMDGWAS Hits for Bilateral Convergent Strabismus with Exophthalmos in Holstein Cattle Using Imputed Sequence Level Genotypes.
GenesLong-term Results of Palpebral Fissure Transfer With No Lower Eyelid Spacer in Chronic Progressive External Ophthalmoplegia.
American journal of ophthalmologyMitochondrial Retinopathy.
Ophthalmology. RetinaNovel biallelic mutations in POLG gene: large deletion and missense variant associated with PEO.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyMitochondrial Neurogastrointestinal Encephalopathy Disease: A Rare Disease Diagnosed in Siblings with Double Vision.
Case reports in ophthalmologyThe Spectrum of Maculopathy in Mitochondrial DNA A3243G Mutation: A Case Series of Six Patients.
Klinische Monatsblatter fur AugenheilkundePtosis, ophthalmoplegia and corneal endothelial disease - ocular manifestations of mitochondrial disease.
American journal of ophthalmology case reportsNeuro-ophthalmic manifestations of mitochondrial disorders and their management.
Taiwan journal of ophthalmologyMitophagy: An Emerging Target in Ocular Pathology.
Investigative ophthalmology & visual scienceClinical and molecular characterization of mitochondrial DNA disorders in a group of Argentinian pediatric patients.
Molecular genetics and metabolism reportsMITOL-dependent ubiquitylation negatively regulates the entry of PolγA into mitochondria.
PLoS biologyPOLRMT mutations impair mitochondrial transcription causing neurological disease.
Nature communicationsMitochondrial DNA maintenance disorders in 102 patients from different parts of Russia: Mutational spectrum and phenotypes.
MitochondrionClinico-pathological and Molecular Spectrum of Mitochondrial Polymerase γ Mutations in a Cohort from India.
Journal of molecular neuroscience : MNProgressive External Ophthalmoplegia in Polish Patients-From Clinical Evaluation to Genetic Confirmation.
GenesFourier-Transform Infrared Spectroscopy of Skeletal Muscle Tissue: Expanding Biomarkers in Primary Mitochondrial Myopathies.
GenesStrabismus in chronic progressive external ophthalmoplegia.
Acta ophthalmologicaMutation Load of Single, Large-Scale Deletions of mtDNA in Mitotic and Postmitotic Tissues.
Frontiers in geneticsComplete genome sequence and bioinformatics analysis of nine Egyptian females with clinical information from different geographic regions in Egypt.
GeneElectrophysiological study of neuromuscular junction in congenital myasthenic syndromes, congenital myopathies, and chronic progressive external ophthalmoplegia.
Neuromuscular disorders : NMDThe Phenotypic Spectrum of 47 Czech Patients with Single, Large-Scale Mitochondrial DNA Deletions.
Brain sciencesExtraocular Muscle Reveals Selective Vulnerability of Type IIB Fibers to Respiratory Chain Defects Induced by Mitochondrial DNA Alterations.
Investigative ophthalmology & visual scienceMitochondrial DNA deletion and duplication in Kearns-Sayre Syndrome (KSS) with initial presentation as Pearson Marrow-Pancreas Syndrome (PMPS): Two case reports in Barranquilla, Colombia.
Molecular genetics & genomic medicineSleep-Disordered Breathing in Adult Patients With Mitochondrial Diseases: A Cohort Study.
NeurologyClinical Profile and Outcome of Pediatric Mitochondrial Myopathy in China.
Frontiers in neurologyMitochondrial neurogastrointestinal encephalopathy disease (MNGIE).
Practical neurologyProgressive external ophthalmoplegia associated with novel MT-TN mutations.
Acta neurologica ScandinavicaScleral Lenses Versus Surgery for Ptosis in Progressive External Ophthalmoplegia Plus Respectively Kearns-Sayre Syndrome.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietySevere Chronic Progressive External Ophthalmoplegia-Associated Ptosis Successfully Treated With Scleral Lenses: Response.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietyClinicogenetical Variants of Progressive External Ophthalmoplegia - An Especial Review of Non-ophthalmic Manifestations.
Neurology IndiaSurgical management of ptosis in chronic progressive external ophthalmoplegia.
European journal of ophthalmologyClinical, neuroelectrophysiological and muscular pathological analysis of chronic progressive external ophthalmoplegia.
Experimental and therapeutic medicineHomozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions.
Human mutationUsing urine to diagnose large-scale mtDNA deletions in adult patients.
Annals of clinical and translational neurologyClinical Phenotype and Genetic Features of a Pair of Chinese Twins with Kearns-Sayre Syndrome.
DNA and cell biologyMRI findings in SANDO variety of the ataxia-neuropathy spectrum with a novel mutation in POLG (c.3287G>T): A case report.
Neuromuscular disorders : NMDRod bipolar cell dysfunction in POLG retinopathy.
Documenta ophthalmologica. Advances in ophthalmologySimplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases.
Journal of inherited metabolic diseaseSevere Chronic Progressive External Ophthalmoplegia-Associated Ptosis Successfully Treated With Scleral Lenses.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietyChronic Progressive External Ophthalmoplegia due to a Rare de novo m.12334G>A MT-TL2 Mitochondrial DNA Variant1.
Journal of neuromuscular diseasesProgressive external ophthalmoplegia due to a recurrent de novo m.15990C>T MT-TP (mt-tRNAPro) gene variant.
Neuromuscular disorders : NMDIncreased intra-mitochondrial lipofuscin aggregates with spherical dense body formation in mitochondrial myopathy.
Journal of the neurological sciencesMiddle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report.
BMC medical geneticsClinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia.
Journal of medical geneticsCognitive Profile of Patients With Mitochondrial Chronic Progressive External Ophthalmoplegia.
Frontiers in neurologyDeep sequencing of mitochondrial DNA and characterization of a novel POLG mutation in a patient with arPEO.
Neurology. GeneticsProteomics of Cytochrome c Oxidase-Negative versus -Positive Muscle Fiber Sections in Mitochondrial Myopathy.
Cell reportsPediatric liver diseases and ocular changes: What hepatologists and ophthalmologists should know and share with each other.
Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the LiverCellular alterations identified in pluripotent stem cell-derived midbrain spheroids generated from a female patient with progressive external ophthalmoplegia and parkinsonism who carries a novel variation (p.Q811R) in the POLG1 gene.
Acta neuropathologica communicationsMitochondrial disorders and the eye.
Survey of ophthalmologyValue of insoluble PABPN1 accumulation in the diagnosis of oculopharyngeal muscular dystrophy.
European journal of neurologyNeurodegenerative Diseases Associated with Mitochondrial DNA Mutations.
Current pharmaceutical designAutosomal dominant optic atrophy with OPA1 gene mutations accompanied by auditory neuropathy and other systemic complications in a Japanese cohort.
Molecular visionNovel POLG mutation in a patient with early-onset parkinsonism, progressive external ophthalmoplegia and optic atrophy.
The International journal of neuroscienceIntrafamilial "DOA-plus" phenotype variability related to different OMI/HTRA2 expression.
American journal of medical genetics. Part AIdentification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance.
Clinical geneticsGenotypes of chronic progressive external ophthalmoplegia in a large adult-onset cohort.
MitochondrionA novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy.
Neuromuscular disorders : NMD[Mitochondrial DNA deletion syndrome: a case report and literature review].
Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgeryParkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism.
Movement disorders : official journal of the Movement Disorder SocietyChronic Progressive External Ophthalmoplegia and Bilateral Vestibular Hypofunction: Balance, Gait, and Eye Movement Before and After Multimodal Chiropractic Care: A Case Study.
Journal of chiropractic medicineA PRIMPOL mutation and variants in multiple genes may contribute to phenotypes in a familial case with chronic progressive external ophthalmoplegia symptoms.
Neuroscience researchAppendicular skeletal muscle mass: A more sensitive biomarker of disease severity than BMI in adults with mitochondrial diseases.
PloS oneA rare case of mitochondriopathy with autosomal dominant progressive external ophthalmoplegia diagnosed through skeletal muscle biopsy.
Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologieIdentification and Characterization of New RNASEH1 Mutations Associated With PEO Syndrome and Multiple Mitochondrial DNA Deletions.
Frontiers in geneticsExophthalmos in Kearns-Sayre syndrome.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusOptical coherence tomography findings in chronic progressive external ophthalmoplegia.
Chinese medical journalAssociações
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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.
- Exploring Outcome Measures for Mitochondrial Myopathies; Insights From a Longitudinal Study on TK2 Deficiency.
- Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort Study.
- RePOWER: An International, Prospective, Non-Interventional Registry of Patients With Primary Mitochondrial Myopathy.
- Integrated molecular and clinical profiling of primary mitochondrial oxidative phosphorylation disorders in an Indian cohort: Insights from genetics, neuroimaging, and machine learning.
- A Novel Truncating Pathogenic Variant in RRM2B in a Kurdish Family With Autosomal-Dominant Chronic Progressive External Ophthalmoplegia Plus (PEOA5).
- Chronic Progressive External Ophthalmoplegia Associated With the m.14484T>C Leber Hereditary Optic Neuropathy Mutation.
- Outcomes of kidney transplantation in three patients with single large-scale mitochondrial DNA deletion syndromes.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:520820(Orphanet)
- MONDO:0005181(MONDO)
- GARD:4503(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
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.
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