Chronic Progressive External Ophthalmoplegia Is Associated with a Novel Mutation in the Mitochondrial tRNA(Asn) Gene [PDF]
, 1994 Chronic progressive external ophthalmoplegia (CPEO) is caused by a decreased oxidative phosphorylation (OXPHOS) activity due to large-scale deletions of the mitochondrial genome in 50 % of the patients.
Kadenbach, B. +5 more
core +3 more sources
Cognitive Profile of Patients With Mitochondrial Chronic Progressive External Ophthalmoplegia [PDF]
Frontiers in Neurology, 2020 Mitochondrial chronic progressive external ophthalmoplegia (CPEO) is a major manifestation of human mitochondrial encephalomyopathies. Previous studies have shown cognitive deficits in patients with mitochondrial diseases.
Guanyu Zhang +4 more
doaj +2 more sources
Faster Recovery of Internal Ophthalmoplegia than External Ophthalmoplegia in a Miller Fisher Variant of Guillain-Barre Syndrome [PDF]
Case Reports in Ophthalmological Medicine, 2020 We present a case of classic Miller Fisher Syndrome (MFS) variant of Guillain-Barre Syndrome (GBS) with detailed description in the difference between the internal and external ophthalmoplegia. They are different in their onset, duration, and recovery.
Golla Abhinav +5 more
doaj +2 more sources
Optical coherence tomography findings in chronic progressive external ophthalmoplegia [PDF]
Chinese Medical Journal, 2019 . Background:. Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial encephalomyopathy caused by multiple mtDNA abnormalities. There is little information about the changes of ocular fundus with CPEO.
Yuan Wu +5 more
doaj +2 more sources
Case Report: A Novel Homozygous Mutation in MYF5 Due to Paternal Uniparental Isodisomy of Chromosome 12 in a Case of External Ophthalmoplegia With Rib and Vertebral Anomalies [PDF]
Frontiers in Genetics, 2022 External ophthalmoplegia with rib and vertebral anomalies (EORVA) is characterized by congenital nonprogressive external ophthalmoplegia, ptosis, scoliosis, torticollis, vertebral, and rib anomalies, caused by homozygous mutations in the myogenic factor ...
Qianqian Li +8 more
doaj +2 more sources
Myosin myopathy presenting as chronic progressive external ophthalmoplegia [PDF]
Annals of Indian Academy of Neurology, 2023 Aamna M H. Maniyar +5 more
doaj +2 more sources
Unilateral ophthalmoplegia in anti-GQ1b antibody syndrome: case report and systematic literature review [PDF]
Frontiers in ImmunologyIntroductionAnti-GQ1b antibody syndrome encompasses immune-mediated neuropathies targeting ganglioside GQ1b, classically presenting as Miller Fisher syndrome (MFS) with the triad of ophthalmoplegia, ataxia, and areflexia.
Juyuan Pan +4 more
doaj +2 more sources
Anaesthesia Concepts in Patients with Chronic Progressive External Ophthalmoplegia Undergoing Ophthalmic Surgery-A Retrospective Cohort Analysis. [PDF]
J Clin MedLeister N +9 more
europepmc +3 more sources
Have 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. [PDF]
Front Neurol, 2023 Feng Z +8 more
europepmc +3 more sources
Progressive External Ophthalmoplegia in Polish Patients-From Clinical Evaluation to Genetic Confirmation. [PDF]
Genes (Basel), 2020 Kierdaszuk B +7 more
europepmc +3 more sources