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Akademický článek
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Autor:
John Vissing, Ronald G. Haller, H. Orhan Akman, Stephen G. Kahler, Carlos A. Bacino, S. DiMauro, Jan Aasly
Publikováno v:
Neurology. 91(11)
ObjectiveTo study the variable clinical picture and exercise tolerance of patients with phosphoglycerate kinase (PGK) 1 deficiency and how it relates to residual PGK enzyme activity.MethodsIn this case series study, we evaluated 7 boys and men from 5
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 86:363-365
[Graphic][1] Like so many complex and incurable neurological disorders, the disease first described in this journal in 1951 by (Archibald) Denis Leigh (1915–1998; figure 1) as ‘Subacute Necrotising Encephalomyelopathy’ (SNE)1 remained for many
Autor:
Maaike de Vries, David C. Samuels, Bianca J.C. van den Bosch, Douglass M. Turnbull, Angela Abicht, Elke Holinski-Feder, Ireneus F. M. de Coo, Gavin Hudson, Rita Horvath, Hanns Lochmüller, Bart W. Smits, Anne Lombès, Laurence A. Bindoff, Robert W. Taylor, Michio Hirano, Vivienne C.M. Neeve, Bianca-Cortina Keiling, S. DiMauro, Jan A.M. Smeitink, Hubert J.M. Smeets, Carsten Saft, Thomas Klopstock, G. Gorman, Gert Van Goethem, Birgit Czermin, Claude Jardel, Patrick F. Chinnery
Publikováno v:
Brain, 135, 3614-26
Brain, 135, Pt 12, pp. 3614-26
Brain, 135, 3614-3626. Oxford University Press
Brain
Brain, 135(12), 3614-3626. Oxford University Press
Brain, 135, Pt 12, pp. 3614-26
Brain, 135, 3614-3626. Oxford University Press
Brain
Brain, 135(12), 3614-3626. Oxford University Press
Item does not contain fulltext Polymerase-gamma (POLG) is a major human disease gene and may account for up to 25% of all mitochondrial diseases in the UK and in Italy. To date, >150 different pathogenic mutations have been described in POLG. Some mu
Publikováno v:
DMW - Deutsche Medizinische Wochenschrift. 108:1058-1061
Deficiency in carnitine-palmityl-transferase (CPT) was demonstrated in a 20-year-old man with paroxysmal myoglobinuria, after failure to discover another cause. It is concluded that muscular CPT deficiency must be excluded before a recurrent myoglobi
Autor:
S. Dimauro, F A Kallfelz, Stephen C. Barr, Robin R. Wakshlag, Daryl V. Nydam, Barry J. Cooper, Joseph J. Wakshlag
Publikováno v:
American Journal of Veterinary Research. 65:480-484
Objective—To perform respiratory chain enzymatic activity assays on canine skeletal muscle biopsy specimens and establish reference range values of skeletal muscle enzyme activities for dogs. Sample Population—Biopsy specimens from the vastus lat
Publikováno v:
Neurology. 58:1282-1285
A 42-year-old woman presented with myopathy and without a family history of neuromuscular disorder. Muscle biopsy showed ragged red fibers and reduced activities of mitochondrial respiratory chain enzyme complexes I, III, and IV. Analysis of mitochon