Results 21 to 30 of about 9,115 (202)

Chronic progressive external ophthalmoplegia [PDF]

Journal of the Neurological Sciences, 1979
Chronic progressive external ophthalmoplegia (CPEO) was first described by Albrecht von Graefe in 1868 and it is appropriate that his photograph graces the cover of this new book. Dr von Graefe looks strangely unhappy in the photograph, as if he had anticipated how little important information would be added about this group of diseases in the 111 ...
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Exploring Outcome Measures for Mitochondrial Myopathies; Insights From a Longitudinal Study on TK2 Deficiency. [PDF]

J Inherit Metab Dis
ABSTRACT Thymidine kinase 2 deficiency (TK2d) is an ultra‐rare autosomal recessive mitochondrial myopathy with variable presentations, including late‐onset forms beginning after age 12. Unlike early‐onset disease, the natural history of late‐onset TK2d remains poorly defined.
Martín-Jimenez P, Bermejo-Guerrero L, Ochoa LE, Navarro-Riquelme M, Garrido-Moraga R, Hernández-Laín A, Hernández-Voth A, González Quintana A, Bermejo-Moriñigo A, González-Méndez V, Martín-Arriscado Arroba C, Smirnov D, Konstantinovskiy N, Arenas J, Martin MÁ, Blázquez A, Domínguez-González C.   +16 more
europepmc   +2 more sources

Mitochondrial neurogastrointestinal encephalomyopathy: approaches to diagnosis and treatment [PDF]

, 2020
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an ultra-rare disease caused by mutations in TYMP, the gene encoding for the enzyme thymidine phosphorylase.
Bax, BE
core   +1 more source

Extra-ocular muscle MRI in genetically-defined mitochondrial disease [PDF]

, 2015
Conventional and quantitative MRI was performed in patients with chronic progressive external ophthalmoplegia (CPEO), a common manifestation of mitochondrial disease, to characterise MRI findings in the extra-ocular muscles (EOMs) and investigate whether
Cathy Woodward, Christopher D. J. Sinclair, Fion Bremner, Gordon T. Plant, Indran Davagnanam, Jasper M. Morrow, John S. Thornton, Mary G. Sweeney, Michael G. Hanna, Nadeem Ali, Robert D. S. Pitceathly, Shamima Rahman, Tarek A. Yousry   +12 more
core   +1 more source

An autopsy study of a familial oculopharyngeal muscular dystrophy (OPMD) with distal spread and neurogenic involvement [PDF]

, 1981
An 81-year-old man from a family with a history of oculopharyngeal muscular dystrophy (OPMD) involving 6 members over 4 generations is described. The patient first noted drooping of his eyelids at the age of 65.
Aarli, Adams, Amyot, Barbeau, Bosch, Bray, Campanella, Cohen, Cox, Coërs, Croft, Direkze, Dutil, Fried, Fuchs, Goto, Graef von, Graf, Hartmann, Hayes, Julien, Kearns, Kiloh, Krause, Lakin, Lees, Lewis, Liversedge, Lundberg, Man, Maningand, Mater, Matsunaga, Murphy, Myrianthopoulos, Nicolaissen, Peterman, Radu, Rebeiz, Roberts, Satoyoshi, Saucier, Schmitt, Schmitt, Schotland, Schwarz, Szobar, Taylor, Victor, Zellweger   +49 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

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 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
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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