Expanded‐Access Use of Elamipretide Improves Quality of Life in Patients With Rare Mitochondrial Disorders Characterized by Ophthalmic Symptoms: A Case Series [PDF]
Clinical Case ReportsThis case series presents the use of elamipretide in two patients with different progressive mitochondrial disorders (chronic progressive external ophthalmoplegia [CPEO] plus and neuropathy, ataxia, and retinitis pigmentosa [NARP] syndrome) characterized
Sharique Ansari, Mary Kay Koenig
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Superheated steam extraction and RSM-based optimization of antioxidant activity in Citrus paradisi essential oil and evaluation of antimicrobial activity [PDF]
Scientific ReportsIn this study, response surface methodology (RSM) based on central composite design (CCD) was employed to optimize the antioxidant activity of Citrus paradisi peel essential oil (CPEO) extracted by superheated steam extraction (SHSE).
Rameen Waseem +5 more
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Type and Frequency of Misdiagnosis and Time Lag to Diagnosis in Patients with Chronic Progressive External Ophthalmoplegia [PDF]
Journal of Ophthalmic & Vision ResearchPurpose: Since ptosis is an early feature of chronic progressive external ophthalmoplegia (CPEO), patients are commonly misdiagnosed with other causes of ptosis.
Nasser Karimi +7 more
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CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions [PDF]
Case Reports in Neurological Medicine, 2019 The classic features of deoxyguanosine kinase (DGUOK) deficiency are infantile onset hepatic failure with nystagmus and hypotonia; mitochondrial DNA studies on affected tissue reveal mitochondrial DNA depletion.
V. Montano +5 more
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eNeurologicalSci, 2021 A 25-year-old man complained of progressive diplopia and limb weakness for 3 years. Mitochondrial myopathy was suspected according to clinical presentation, elevated serum lactate concentration, and muscle histopathology.
Sung-Pin Fan +6 more
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Chronic progressive external ophthalmoplegia (CPEO) with 'ragged red fibers': a case report [PDF]
Journal of Korean Medical Science, 1989 Chronic progressive external ophthalmoplegia (CPEO) is a rare clinical syndrome characterized by slowly progressive paralysis of extraocular muscles. We report a male patient who had a 20 year history of CPEO. Histological examination of left deltoid muscle showed characteristic ragged red fibers.
Jong S. Kim +3 more
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Journal of Neuromuscular Diseases, 2023 Chronic progressive external ophthalmoplegia (CPEO) is symptom complex with progressive ptosis and restricted ocular motility without diplopia. MYH2 myopathy is rare disorder presenting with CPEO and muscle weakness. We report two Indian patients of MYH2 myopathy with unique features.
Dipti Baskar +11 more
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Living with chronic progressive external ophthalmoplegia alongside cataract, peptic ulcer disease, diabetes and hypertension in Ghana [PDF]
Clinical Case Reports, 2023 Key Clinical Message This is the case of a 51‐year‐old woman with chronic progressive external ophthalmoplegia (CPEO) alongside some comorbidities in a low‐resource setting.
Naa Adzoa Adzeley Boi‐Dsane +3 more
doaj +2 more sources
Chronic Progressive External Ophthalmoplegia(CPEO): A not so rare mitochondrial myopathy
Panacea Journal of Medical Sciences, 2016 Mitochondria myopathies have a variable clinical presentation and CPEO(chronic progressive external ophthalmoplegia) is the hallmark which should alert the clinician to this diagnosis. Herein we report a-40-year old lady with progressive ptosis without diplopia and without any similar family history who was diagnosed as having a mitochondrial myopathy ...
Shilpa Sachin Kuthe +2 more
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The First Heterozygous TWNK Nonsense Mutation Associated with Progressive External Ophthalmoplegia: Evidence for a New Piece in the Puzzle of Mitochondrial Diseases [PDF]
BiomoleculesBackground: The TWNK gene encodes a protein that colocalizes with mitochondrial DNA (mtDNA) in mitochondrial nucleoids. It acts as mtDNA helicase during replication, thus playing a pivotal role in the replication and maintenance of mtDNA stability.
Diego Lopergolo +6 more
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