Fatal pneumonia in a patient with Kearns-Sayre syndrome case report and literature review [PDF]
Frontiers in MedicineKearns-Sayre syndrome is a mitochondrial DNA deletion disorder, classically characterized by a triad of onset before the age of 20, pigmentary retinopathy, and chronic progressive external ophthalmoplegia (CPEO).
Jiaqi Zhang +4 more
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Mitochondrial Chronic Progressive External Ophthalmoplegia [PDF]
Brain SciencesBackground: Chronic progressive external ophthalmoplegia (CPEO) is a rare disorder that can be at the forefront of several mitochondrial diseases. This review overviews mitochondrial CPEO encephalomyopathies to enhance accurate recognition and diagnosis ...
Ali Ali, Ali Esmaeil, Raed Behbehani
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Response to Letter to the Editor, re CPEO-BVH Case
Journal of Chiropractic Medicine, 2020 Brent S. Russell +3 more
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Comment on “CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions” [PDF]
Case Reports in Neurological Medicine, 2020 Josef Finsterer
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Saliva whole exome sequencing utility for the molecular diagnosis of CPEO
Arquivos de Neuro-PsiquiatriaBackground: Chronic progressive external ophthalmoplegia (CPEO) is the most common manifestation of mitochondrial diseases and is characterized by bilateral symmetrical progressive ptosis and reduced ocular motility. CPEO can be isolated or accompanied by a clinical feature of systemic involvement of mitochondrial dysfunction (CPEO plus syndrome). Both
Cristiane Araújo Martins Moreno +3 more
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Enhancing Postharvest Quality of Blackberries: Impact of Sonicated and Microwave-Assisted Pasteurized Edible Coating Gels at Different Storage Temperatures [PDF]
GelsBlackberries (Rubus fructicosus L.) are categorized as functional foods, as they are rich in bioactive compounds. Due to limited shelf life and susceptibility to postharvest quality deterioration, it is imperative to investigate postharvest interventions
Muhammad Nadeem +4 more
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Antioxidant, Anti-Inflammatory, and Anticancer Activities of Five Citrus Peel Essential Oils [PDF]
AntioxidantsCitrus peel essential oil (CPEO) is favored by people for its aromatic scent, while also possessing numerous bioactive compounds that are advantageous to human health.
Yurong Li +4 more
doaj +2 more sources
Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial [PDF]
Orphanet Journal of Rare DiseasesBackground As previously published, the MMPOWER-3 clinical trial did not demonstrate a significant benefit of elamipretide treatment in a genotypically diverse population of adults with primary mitochondrial myopathy (PMM).
Amel Karaa +34 more
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Mitochondrial DNA Pathogenic Variant Prevalence in Primary Mitochondrial Disease Patients With African (L) Mitochondrial Genome Haplogroups. [PDF]
JIMD RepABSTRACT Primary mitochondrial diseases (PMD) are caused by pathogenic variants in over 350 genes, 37 of which are located in mitochondrial DNA (mtDNA). While more than 100 mtDNA variants have confirmed disease associations, there are few reports of mtDNA‐related PMD in patients with African heritage, even in well‐studied populations.
Meldau S +9 more
europepmc +2 more sources
Kearns-Sayre Syndrome may be Mixed Up with CPEO Plus
Archives of Neurology and Neuro Disorders, 2018 Josef Finsterer, Sinda Zarrouk‐Mahjoub
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