Results 41 to 50 of about 9,186 (248)

Chronic progressive external ophthalmoplegia in a Saudi patient with a mutation in the POLG gene successfully managed with bilateral frontalis sling

Journal of genetic medicine, 2021
Chronic progressive external ophthalmoplegia (CPEO) is a complex slowly progressive mitochondrial disorder characterized by extraocular muscle weakness with or without multisystem involvement. The mainstay of therapy in a patient with CPEO is supportive.
H. Algahtani, B. Shirah, Khalid Alsaggaf, M. Al-Qahtani, A. Abdulkareem, M. Naseer, A. Abuzinadah   +6 more
semanticscholar   +1 more source

Clinical and magnetic resonance imaging features of idiopathic oculomotor neuropathy in 14 dogs: Canine Idiopathic Oculomotor Neuropathy [PDF]

, 2017
Ophthalmoplegia/ophthalmoparesis (internal, external, or both) has been reported in dogs secondary to neoplasia affecting the oculomotor nerve and is usually given a poor prognosis.
Beltran, E, Dennis, R, Freeman, C, Hartley, C, Tetas Pont, R   +4 more
core   +2 more sources

Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency [PDF]

, 2018
Background: The first subjects with deficiency of mitochondrial tryptophanyl-tRNA synthetase (WARS2) were reported in 2017. Their clinical characteristics can be subdivided into three phenotypes (neonatal phenotype, severe infantile onset phenotype ...
De Bruyne, Ruth, Menten, Björn, Roels, Frank, Roeyers, Herbert, Smet, Joél, Stepman, Hedwig, Van Coster, Rudy, Vanlander, Arnaud, Vantroys, Elise, Vergult, Sarah   +9 more
core   +1 more source

Chronic progressive external ophthalmoplegia: I. A quantitative histochemical study of skeletal muscles

Arquivos de Neuro-Psiquiatria, 1988
This study quantitates the major morphological and cytochemical changes in limb muscle biopsies from 37 patients with the, syndrome of chronic progressive external ophthalmoplegia (CPEO).
Elza Dias-Tosta
doaj   +1 more source

Late-onset thymidine kinase 2 deficiency: a review of 18 cases [PDF]

, 2019
BACKGROUND: TK2 gene encodes for mitochondrial thymidine kinase, which phosphorylates the pyrimidine nucleosides thymidine and deoxycytidine. Recessive mutations in the TK2 gene are responsible for the 'myopathic form' of the mitochondrial depletion ...
Caballero Eraso, Candelaria, Domínguez González, Cristina, Fernández Torrón, Roberto, Fuiza Luces, Carmen, García García, Jorge M., Hernández Laín, Aurelio, Hernández Voth, Ana R., Paradas, Carmen, Rivas, Eloy, Sayas Catalán, Javier   +9 more
core   +1 more source

Anesthetic management of a parturient with Kearns–Sayre syndrome, dual-chamber and VVI implantable defibrillator pacemaker/defibrillator, and preeclampsia for cesarean delivery: A case report and review of the literature

Saudi Journal of Anaesthesia, 2018
Kearns–Sayre syndrome (KSS), a rare form of mitochondrial myopathy, is a triad of chronic progressive external ophthalmoplegia, bilateral pigmentary retinopathy, and cardiac conduction abnormalities. In this report, we show how a combined spinal epidural
Abdulmohsen Al Ghamdi
doaj   +1 more source

Gaze-holding nystagmus in chronic progressive external ophthalmoplegia: a case report

Research in Vestibular Science
We report a patient with chronic progressive external ophthalmoplegia (CPEO) who developed bilateral horizontal gaze-holding nystagmus, a previously unreported phenomenon.
Eugene Jung, Seo-Young Choi, J. Choi, Kwang-Dong Choi   +3 more
semanticscholar   +1 more source

Mitochondrial myopathy and comorbid major depressive disorder. effectiveness of dTMS on gait and mood symptoms [PDF]

, 2015
Background: Mitochondrial myopathies (MMs) often present with leukoencephalopathy and psychiatric symptoms, which do not respond to or worsen with psychiatric drugs.
Angeletti, Gloria, Brugnoli, Roberto, Callovini, G, Dacquino, Claudia, Danese, E, DEL CASALE, Antonio, Ferracuti, Stefano, Ferri, Vr, Gentile, Giovanna, Girardi, Paolo, Janiri, D, Kotzalidis, Georgios, Manfredi, G, Raccah, Rn, Rapinesi, Chiara, Scatena, P, Serata, D, Simmaco, Maurizio, Zangen, A   +18 more
core   +1 more source

De Toni-Debré-Fanconi syndrome in a patient with Kearns-Sayre syndrome: a case report

Journal of Medical Case Reports, 2009
Introduction Kearns-Sayre syndrome is a mitochondrial myopathy that demonstrates chronic progressive ophthalmoplegia with onset before the age of 20 and pigmentary degeneration of the retina.
Mihai Cristina, Catrinoiu Doina, Toringhibel Marius, Stoicescu Ramona, Hancu Anca   +4 more
doaj   +1 more source

Neuropathic Pain as Main Manifestation of POLG-Related Disease: A Case Report

Frontiers in Neurology, 2022
Mutations in nuclear-encoded genes that are involved in mitochondrial DNA replication and maintenance (e.g., POLG) have been associated with chronic progressive external ophthalmoplegia (CPEO) phenotype.
Melanie Lang-Orsini, Paloma Gonzalez-Perez   +1 more
doaj   +1 more source