Results 31 to 40 of about 9,186 (248)

Novel POLG variants associated with late-onset de novo status epilepticus and progressive ataxia [PDF]

, 2017
Mitochondrial disease is phenotypically and genetically heterogeneous with an estimated prevalence of 1 in 4,300.1 Mutations in the POLG gene, encoding the catalytic subunit of DNA polymerase gamma, are an important cause of mitochondrial disease.
Hadjivassiliou, M., Hoggard, N., Ng, Y.S., Powell, H., Taylor, R.W., Turnbull, D.M.   +5 more
core   +1 more source

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., Klopstock, Thomas, Lauber, J., Marsac, C., Reichmann, Heinz, Seibel, P.   +5 more
core   +1 more source

[Chronic progressive external ophthalmoplegia that could not be diagnosed by biceps muscle biopsy, but was genetically diagnosed by extraocular muscle biopsy].

Rinshō shinkeigaku Clinical neurology, 2022
A 48-year-old Japanese male experienced slowly progressive diplopia. He had no family history and was negative for the edrophonium chloride test. Blood analysis showed elevated lactic acid and pyruvic acid levels, suggesting mitochondrial disease.
Wataru Shiraishi, T. Tateishi, Y. Hashimoto, R. Yamasaki, J. Kira, N. Isobe   +5 more
semanticscholar   +1 more source

Flux control of cytochrome c oxidase in human skeletal muscle [PDF]

, 2000
In the present work, by titrating cytochrome c oxidase (COX) with the specific inhibitor KCN, the flux control coefficient and the metabolic reserve capacity of COX have been determined in human saponin-permeabilized muscle fibers. In the presence of the
Attardi, Giuseppe, Elger, Christian E., Kudin, Alexei, Kunz, Wolfram S., Vielhaber, Stefan, Villani, Gaetano   +5 more
core   +1 more source

Oxidative phosphorylation in human muscle in patients with ocular myopathy and after general anaesthesia [PDF]

, 1990
The fuel preference of human muscle mitochondria has been given. Substrates which are oxidized with low velocity cannot be used to detect defects in oxidative phosphorylation.
Agsteribbe, E. (E.), Busch, H.F.M. (Herman), Hoogenraad, T.U. (T.), Jennekens, F.G.I. (Frans G.), Linge, B. (Bert) van, Luyt-Houwen, I.E.M. (I. E M), Ross, J.D. (John), Ruiters, M.H.J. (M. H J), Scholte, H.R. (Hans), Verduin, M.H.M. (M. H M)   +9 more
core   +5 more sources

Nonstandard cases of blepharoptosis in patients with subcutaneous dirofilariasis, chronic progressive external ophthalmoplegia, and blepharochalyasis of allergic origin (clinical observations)

Russian Pediatric Ophthalmology, 2023
The medico-social significance of upper eyelid omission is associated, on the one hand, with a relatively high frequency of occurrence (up to 32% among ophthalmic patients) and, on the other hand, with a significant decrease in the quality of life of ...
I. Filatova, Julia P. Kondratieva, S. A. Shemetov, M. S. Trefilova   +3 more
semanticscholar   +1 more source

The Eye on Mitochondrial Disorders. [PDF]

, 2015
Ophthalmologic manifestations of mitochondrial disorders are frequently neglected or overlooked because they are often not regarded as part of the phenotype.
Daruich, A., Finsterer, J., Zarrouk-Mahjoub, S.   +2 more
core   +2 more sources

Outcome of Ptosis Surgery in Patients with Chronic Progressive External Ophthalmoplegia

Türk Oftalmoloji Dergisi, 2014
Objectives: To evaluate the clinical features and the outcome of ptosis surgery in patients with chronic progressive external ophthalmoplegia (CPEO). Materials and Methods: The demographic features, surgical approaches, anatomic and functional outcomes,
Şeyda Uğurlu, Sevinç Atik, Mehmet Reşit Işık, Gülden Diniz   +3 more
doaj   +1 more source

Atheromatosis of the Scalp: A Novel Feature of Chronic Progressive External Ophthalmoplegia Plus Due to a Single Mitochondrial DNA Deletion

Cureus, 2021
Chronic progressive external ophthalmoplegia (CPEO) manifests phenotypically as ptosis with ophthalmoplegia or CPEO-plus, with the affection of muscles or organs other than the extra-ocular eye muscles.
J. Finsterer
semanticscholar   +1 more source

Ataxia in children: early recognition and clinical evaluation [PDF]

, 2017
Background: Ataxia is a sign of different disorders involving any level of the nervous system and consisting of impaired coordination of movement and balance.
Falsaperla, Raffaele, Lubrano, Riccardo, Pavone, Piero, Pavone, Vito, Praticò, Andrea D., Rizzo, Renata, Ruggieri, Martino   +6 more
core   +1 more source